Disease	Integrated Phenotype
biotinidase deficiency	HP:0001317|Abnormality of the cerebellum;HP:0001263|Global developmental delay;HP:0000545|Myopia;HP:0000365|Hearing impairment;HP:0002883|Hyperventilation;HP:0001251|Ataxia;HP:0001254|Lethargy;HP:0007730|Iris hypopigmentation;HP:0006511|Laryngeal stridor;HP:0001276|Hypertonia;HP:0005979|Metabolic ketoacidosis;HP:0001510|Growth delay;HP:0011127|Perioral eczema;HP:0001259|Coma;HP:0000648|Optic atrophy;HP:0001096|Keratoconjunctivitis;HP:0001596|Alopecia;HP:0001123|Visual field defect;HP:0001324|Muscle weakness;HP:0002841|Recurrent fungal infections;HP:0001252|Muscular hypotonia;HP:0002123|Generalized myoclonic seizures;HP:0002104|Apnea
rett syndrome	HP:0010864|Intellectual disability, severe;HP:0100716|Self-injurious behavior;HP:0002186|Apraxia;HP:0004322|Short stature;HP:0000929|Abnormality of the skull;HP:0002376|Developmental regression;HP:0001257|Spasticity;HP:0001251|Ataxia;HP:0000733|Stereotypy;HP:0001332|Dystonia;HP:0000164|Abnormality of the teeth;HP:0002120|Cerebral cortical atrophy;HP:0002308|Arnold-Chiari malformation;HP:0004374|Hemiplegia/hemiparesis;HP:0002804|Arthrogryposis multiplex congenita;HP:0002353|EEG abnormality;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0003199|Decreased muscle mass;HP:0002093|Respiratory insufficiency;HP:0009738|Abnormality of the antihelix;HP:0002445|Tetraplegia;HP:0001163|Abnormality of the metacarpal bones;HP:0000252|Microcephaly;HP:0002650|Scoliosis;HP:0011675|Arrhythmia;HP:0100022|Abnormality of movement;HP:0001508|Failure to thrive;HP:0002240|Hepatomegaly;HP:0004209|Clinodactyly of the 5th finger;HP:0000717|Autism;HP:0001786|Narrow foot;HP:0012742|Thin fingernail;HP:0001324|Muscle weakness;HP:0001387|Joint stiffness;HP:0002357|Dysphasia;HP:0000716|Depression;HP:0000400|Macrotia;HP:0001063|Acrocyanosis
gaucher disease	HP:0001103|Abnormality of the macula;HP:0012378|Fatigue;HP:0002015|Dysphagia;HP:0001654|Abnormality of the heart valves;HP:0002653|Bone pain;HP:0002119|Ventriculomegaly;HP:0000365|Hearing impairment;HP:0000657|Oculomotor apraxia;HP:0002027|Abdominal pain;HP:0001000|Abnormality of skin pigmentation;HP:0001697|Abnormality of the pericardium;HP:0002376|Developmental regression;HP:0001373|Joint dislocation;HP:0000093|Proteinuria;HP:0002797|Osteolysis;HP:0001789|Hydrops fetalis;HP:0003330|Abnormal bone structure;HP:0001637|Abnormality of the myocardium;HP:0002829|Arthralgia;HP:0001251|Ataxia;HP:0001873|Thrombocytopenia;HP:0000486|Strabismus;HP:0002206|Pulmonary fibrosis;HP:0004322|Short stature;HP:0001522|Death in infancy;HP:0010729|Cherry red spot of the macula;HP:0000790|Hematuria;HP:0004374|Hemiplegia/hemiparesis;HP:0004380|Aortic valve calcification;HP:0002804|Arthrogryposis multiplex congenita;HP:0001903|Anemia;HP:0008872|Feeding difficulties in infancy;HP:0000924|Abnormality of the skeletal system;HP:0001876|Pancytopenia;HP:0002071|Abnormality of extrapyramidal motor function;HP:0002754|Osteomyelitis;HP:0007957|Corneal opacity;HP:0002093|Respiratory insufficiency;HP:0011001|Increased bone mineral density;HP:0000225|Gingival bleeding;HP:0002757|Recurrent fractures;HP:0000938|Osteopenia;HP:0100022|Abnormality of movement;HP:0002758|Osteoarthritis;HP:0001945|Fever;HP:0000823|Delayed puberty;HP:0002240|Hepatomegaly;HP:0002069|Generalized tonic-clonic seizures;HP:0001892|Abnormal bleeding;HP:0001744|Splenomegaly;HP:0001394|Cirrhosis;HP:0000488|Retinopathy;HP:0001337|Tremor;HP:0001387|Joint stiffness;HP:0002750|Delayed skeletal maturation;HP:0006530|Interstitial pulmonary disease;HP:0000716|Depression;HP:0010885|Aseptic necrosis;HP:0006824|Cranial nerve paralysis;HP:0011227|Elevated C-reactive protein level;HP:0012115|Hepatitis;HP:0001252|Muscular hypotonia;HP:0002092|Pulmonary arterial hypertension;HP:0002123|Generalized myoclonic seizures;HP:0000238|Hydrocephalus;HP:0010702|Increased antibody level in blood;HP:0008064|Ichthyosis;HP:0004382|Mitral valve calcification
achondroplasia	HP:0008873|Disproportionate short-limb short stature;HP:0011800|Midface retrusion;HP:0000944|Abnormality of the metaphyses;HP:0006487|Bowing of the long bones;HP:0002119|Ventriculomegaly;HP:0100818|Long thorax;HP:0005019|Diaphyseal thickening;HP:0000238|Hydrocephalus;HP:0000678|Dental crowding;HP:0002645|Wormian bones;HP:0005280|Depressed nasal bridge;HP:0001260|Dysarthria;HP:0002870|Obstructive sleep apnea;HP:0002970|Genu varum;HP:0008921|Neonatal short-limb short stature;HP:0002007|Frontal bossing;HP:0003307|Hyperlordosis;HP:0002167|Neurological speech impairment;HP:0005692|Joint hyperflexibility;HP:0001522|Death in infancy;HP:0000774|Narrow chest;HP:0001511|Intrauterine growth retardation;HP:0000772|Abnormality of the ribs;HP:0000975|Hyperhidrosis;HP:0003312|Abnormal form of the vertebral bodies;HP:0000256|Macrocephaly;HP:0008803|Narrow sacroiliac notch;HP:0003042|Elbow dislocation;HP:0000389|Chronic otitis media;HP:0002808|Kyphosis;HP:0003416|Spinal canal stenosis;HP:0000405|Conductive hearing impairment;HP:0009811|Abnormality of the elbow;HP:0002867|Abnormality of the ilium;HP:0001513|Obesity;HP:0001645|Sudden cardiac death;HP:0001387|Joint stiffness;HP:0000463|Anteverted nares;HP:0001252|Muscular hypotonia;HP:0000956|Acanthosis nigricans;HP:0000689|Dental malocclusion;HP:0002104|Apnea;HP:0008905|Rhizomelia
choroideremia	HP:0000504|Abnormality of vision;HP:0000505|Visual impairment;HP:0000662|Nyctalopia;HP:0000545|Myopia;HP:0000529|Progressive visual loss;HP:0007703|Abnormality of retinal pigmentation;HP:0000512|Abnormal electroretinogram;HP:0000478|Abnormality of the eye
polycythemia vera	HP:0001297|Stroke;HP:0002239|Gastrointestinal hemorrhage;HP:0012378|Fatigue;HP:0000978|Bruising susceptibility;HP:0002027|Abdominal pain;HP:0001824|Weight loss;HP:0030242|Portal vein thrombosis;HP:0002829|Arthralgia;HP:0002204|Pulmonary embolism;HP:0001409|Portal hypertension;HP:0000822|Hypertension;HP:0011974|Myelofibrosis;HP:0001681|Angina pectoris;HP:0002093|Respiratory insufficiency;HP:0004936|Venous thrombosis;HP:0000225|Gingival bleeding;HP:0002240|Hepatomegaly;HP:0004417|Intermittent claudication;HP:0001744|Splenomegaly;HP:0000421|Epistaxis;HP:0002321|Vertigo;HP:0002488|Acute leukemia;HP:0002863|Myelodysplasia;HP:0004420|Arterial thrombosis;HP:0000989|Pruritus;HP:0000360|Tinnitus;HP:0002639|Budd-Chiari syndrome;HP:0002315|Headache
pityriasis rubra pilaris	HP:0200039|Pustule;HP:0001597|Abnormality of the nail;HP:0002664|Neoplasm;HP:0008392|Subungual hyperkeratosis;HP:0000163|Abnormality of the oral cavity;HP:0007400|Irregular hyperpigmentation;HP:0001019|Erythroderma;HP:0200034|Papule;HP:0001072|Thickened skin;HP:0000989|Pruritus;HP:0000964|Eczema;HP:0100725|Lichenification;HP:0000982|Palmoplantar keratoderma;HP:0008064|Ichthyosis
hypoplastic left heart syndrome	HP:0002916|Abnormality of chromosome segregation;HP:0011560|Mitral atresia;HP:0004383|Underdeveloped left heart;HP:0001643|Patent ductus arteriosus;HP:0009800|Maternal diabetes;HP:0001718|Mitral stenosis;HP:0012304|Hypoplastic aortic arch;HP:0004383|Hypoplastic left heart;HP:0001631|Atrial septal defect
fanconi anemia	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0002023|Anal atresia;HP:0004322|Short stature;HP:0000027|Azoospermia;HP:0000365|Hearing impairment;HP:0000218|High palate;HP:0001871|Abnormality of blood and blood-forming tissues;HP:0000079|Abnormality of the urinary system;HP:0000347|Micrognathia;HP:0000130|Abnormality of the uterus;HP:0001636|Tetralogy of Fallot;HP:0001903|Anemia;HP:0000478|Abnormality of the eye;HP:0000175|Cleft palate;HP:0001646|Abnormality of the aortic valve;HP:0007400|Irregular hyperpigmentation;HP:0000252|Microcephaly;HP:0000813|Bicornuate uterus;HP:0001392|Abnormality of the liver;HP:0004209|Clinodactyly of the 5th finger;HP:0010293|Aplasia/Hypoplasia of the uvula;HP:0005344|Abnormality of the carotid arteries;HP:0012041|Decreased fertility in males;HP:0000520|Proptosis;HP:0002245|Meckel diverticulum;HP:0005522|Pyridoxine-responsive sideroblastic anemia;HP:0012745|Short palpebral fissure;HP:0100760|Clubbing of toes;HP:0000010|Recurrent urinary tract infections;HP:0000508|Ptosis;HP:0001631|Atrial septal defect;HP:0000047|Hypospadias;HP:0000582|Upslanted palpebral fissure;HP:0006101|Finger syndactyly;HP:0001873|Thrombocytopenia;HP:0002007|Frontal bossing;HP:0003220|Abnormality of chromosome stability;HP:0003022|Hypoplasia of the ulna;HP:0000286|Epicanthus;HP:0000324|Facial asymmetry;HP:0000483|Astigmatism;HP:0001760|Abnormality of the foot;HP:0012210|Abnormal renal morphology;HP:0001249|Intellectual disability;HP:0006501|Aplasia/Hypoplasia of the radius;HP:0001199|Triphalangeal thumb;HP:0100867|Duodenal stenosis;HP:0007565|Multiple cafe-au-lait spots;HP:0000238|Hydrocephalus;HP:0001671|Abnormality of the cardiac septa;HP:0000035|Abnormality of the testis;HP:0001263|Global developmental delay;HP:0000492|Abnormality of the eyelid;HP:0002119|Ventriculomegaly;HP:0000072|Hydroureter;HP:0000453|Choanal atresia;HP:0001562|Oligohydramnios;HP:0002251|Aganglionic megacolon;HP:0002575|Tracheoesophageal fistula;HP:0008678|Renal hypoplasia/aplasia;HP:0100587|Abnormality of the preputium;HP:0001882|Leukopenia;HP:0008053|Aplasia/Hypoplasia of the iris;HP:0000316|Hypertelorism;HP:0001643|Patent ductus arteriosus;HP:0002414|Spina bifida;HP:0002650|Scoliosis;HP:0001679|Abnormality of the aorta;HP:0006265|Aplasia/Hypoplasia of fingers;HP:0000504|Abnormality of vision;HP:0000505|Visual impairment;HP:0001347|Hyperreflexia;HP:0100542|Abnormal localization of kidney;HP:0000364|Hearing abnormality;HP:0002827|Hip dislocation;HP:0002863|Myelodysplasia;HP:0001763|Pes planus;HP:0012639|Abnormality of nervous system morphology;HP:0002817|Abnormality of the upper limb;HP:0004349|Reduced bone mineral density;HP:0000340|Sloping forehead;HP:0100026|Arteriovenous malformation;HP:0000568|Microphthalmia;HP:0000518|Cataract;HP:0007874|Almond-shaped palpebral fissure;HP:0001770|Toe syndactyly;HP:0001824|Weight loss;HP:0001000|Abnormality of skin pigmentation;HP:0000135|Hypogonadism;HP:0000083|Renal insufficiency;HP:0001537|Umbilical hernia;HP:0001053|Hypopigmented skin patches;HP:0000486|Strabismus;HP:0001172|Abnormality of the thumb;HP:0001639|Hypertrophic cardiomyopathy;HP:0001511|Intrauterine growth retardation;HP:0002823|Abnormality of the femur;HP:0001510|Growth delay;HP:0002664|Neoplasm;HP:0000268|Dolichocephaly;HP:0000864|Abnormality of the hypothalamus-pituitary axis;HP:0006824|Cranial nerve paralysis;HP:0008572|External ear malformation;HP:0010469|Aplasia of the testes;HP:0002997|Abnormality of the ulna
galactosemia	HP:0000044|Hypogonadotrophic hypogonadism;HP:0001263|Global developmental delay;HP:0002240|Enlarged liver;HP:0000518|Cataract;HP:0100543|Cognitive impairment;HP:0100806|Sepsis;HP:0001260|Dysarthria;HP:0000083|Renal insufficiency;HP:0001251|Ataxia;HP:0002014|Diarrhea;HP:0001254|Lethargy;HP:0002167|Neurological speech impairment;HP:0004918|Hyperchloremic metabolic acidosis;HP:0001531|Failure to thrive in infancy;HP:0001943|Hypoglycemia;HP:0012023|Galactosuria;HP:0001394|Hepatic cirrhosis;HP:0002017|Nausea and vomiting;HP:0000952|Jaundice;HP:0001541|Ascites;HP:0001249|Mental retardation;HP:0012024|Hypergalactosemia;HP:0001510|Growth delay;HP:0001878|Hemolytic anemia;HP:0008872|Feeding difficulties in infancy;HP:0001250|Seizures;HP:0001942|Metabolic acidosis;HP:0010741|Edema of the lower limbs;HP:0008209|Premature ovarian failure;HP:0001399|Hepatic failure;HP:0001878|Haemolytic anaemia;HP:0001608|Abnormality of the voice;HP:0001410|Decreased liver function;HP:0000252|Microcephaly;HP:0003355|Aminoaciduria;HP:0000939|Osteoporosis;HP:0001508|Weight faltering;HP:0000815|Primary hypogonadism;HP:0002240|Hepatomegaly;HP:0001939|Abnormality of metabolism/homeostasis;HP:0001249|Intellectual disability;HP:0011098|Speech apraxia;HP:0000505|Visual impairment;HP:0001928|Abnormality of coagulation;HP:0001337|Tremor;HP:0001252|Muscular hypotonia;HP:0002013|Emesis
incontinentia pigmenti	HP:0001263|Global developmental delay;HP:0001810|Dystrophic toenail;HP:0010978|Abnormality of immune system physiology;HP:0000568|Microphthalmia;HP:0000518|Cataract;HP:0000682|Abnormality of dental enamel;HP:0100543|Cognitive impairment;HP:0004322|Short stature;HP:0000541|Retinal detachment;HP:0100585|Telangiectasia of the skin;HP:0000592|Blue sclerae;HP:0001000|Abnormality of skin pigmentation;HP:0002637|Cerebral ischemia;HP:0100555|Asymmetric growth;HP:0002383|Encephalitis;HP:0002797|Osteolysis;HP:0200043|Verrucae;HP:0001635|Congestive heart failure;HP:0010783|Erythema;HP:0001257|Spasticity;HP:0006101|Finger syndactyly;HP:0001537|Umbilical hernia;HP:0000532|Chorioretinal abnormality;HP:0000486|Strabismus;HP:0001053|Hypopigmented skin patches;HP:0002558|Supernumerary nipple;HP:0003298|Spina bifida occulta;HP:0000668|Hypodontia;HP:0006482|Abnormality of dental morphology;HP:0000684|Delayed eruption of teeth;HP:0005815|Supernumerary ribs;HP:0002120|Cerebral cortical atrophy;HP:0001821|Broad nail;HP:0200042|Skin ulcer;HP:0004374|Hemiplegia/hemiparesis;HP:0005922|Abnormal hand morphology;HP:0004097|Deviation of finger;HP:0008066|Abnormal blistering of the skin;HP:0008402|Ridged fingernail;HP:0008388|Abnormality of the toenails;HP:0000962|Hyperkeratosis;HP:0001250|Seizures;HP:0000975|Hyperhidrosis;HP:0007957|Corneal opacity;HP:0000554|Uveitis;HP:0001288|Gait disturbance;HP:0007400|Irregular hyperpigmentation;HP:0002650|Scoliosis;HP:0007018|Attention deficit hyperactivity disorder;HP:0000491|Keratitis;HP:0001595|Abnormality of the hair;HP:0001249|Intellectual disability;HP:0000202|Oral cleft;HP:0000988|Skin rash;HP:0001597|Abnormality of the nail;HP:0004050|Absent hand;HP:0007850|Retinal vascular proliferation;HP:0000573|Retinal hemorrhage;HP:0000505|Visual impairment;HP:0001596|Alopecia;HP:0000364|Hearing abnormality;HP:0100490|Camptodactyly of finger;HP:0001804|Hypoplastic fingernail;HP:0001252|Muscular hypotonia;HP:0002092|Pulmonary arterial hypertension;HP:0001231|Abnormality of the fingernails;HP:0001880|Eosinophilia
wilson disease	HP:0001155|Abnormality of the hand;HP:0002653|Bone pain;HP:0000978|Bruising susceptibility;HP:0001824|Weight loss;HP:0002355|Difficulty walking;HP:0030214|Hypersexuality;HP:0001260|Dysarthria;HP:0006554|Acute hepatic failure;HP:0002829|Arthralgia;HP:0001873|Thrombocytopenia;HP:0002312|Clumsiness;HP:0000140|Abnormality of the menstrual cycle;HP:0000718|Aggressive behavior;HP:0000952|Jaundice;HP:0001903|Anemia;HP:0003418|Back pain;HP:0004324|Increased body weight;HP:0001386|Joint swelling;HP:0200119|Acute hepatitis;HP:0200032|Kayser-Fleischer ring;HP:0001508|Failure to thrive;HP:0001397|Hepatic steatosis;HP:0002240|Hepatomegaly;HP:0001249|Intellectual disability;HP:0002910|Elevated hepatic transaminases;HP:0001744|Splenomegaly;HP:0001394|Cirrhosis;HP:0001369|Arthritis;HP:0000716|Depression;HP:0000989|Pruritus;HP:0002756|Pathologic fracture;HP:0012115|Hepatitis;HP:0008994|Proximal muscle weakness in lower limbs
primary ciliary dyskinesia	HP:0002205|Recurrent respiratory infections
retinoblastoma	HP:0009919|Retinoblastoma
acute intermittent porphyria	HP:0012086|Abnormal urinary color;HP:0002385|Paraparesis;HP:0002019|Constipation;HP:0002027|Abdominal pain;HP:0001824|Weight loss;HP:0000083|Renal insufficiency;HP:0002829|Arthralgia;HP:0003401|Paresthesia;HP:0003326|Myalgia;HP:0000016|Urinary retention;HP:0001254|Lethargy;HP:0002902|Hyponatremia;HP:0000822|Hypertension;HP:0002017|Nausea and vomiting;HP:0100735|Hypertensive crisis;HP:0000739|Anxiety;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0000975|Hyperhidrosis;HP:0001402|Hepatocellular carcinoma;HP:0011675|Arrhythmia;HP:0003077|Hyperlipidemia;HP:0006597|Diaphragmatic paralysis;HP:0001324|Muscle weakness;HP:0000738|Hallucinations;HP:0000716|Depression;HP:0100785|Insomnia;HP:0006824|Cranial nerve paralysis;HP:0002039|Anorexia
cowden syndrome	HP:0012733|Macule;HP:0002858|Mengiomia;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0002858|Meningioma;HP:0000218|High palate;HP:0010619|Fibroadenoma of the breast;HP:0000821|Underactive thyroid;HP:0000130|Abnormality of the uterus;HP:0000836|Overactive thyroid;HP:0000771|Gynecomastia;HP:0000221|Furrowed tongue;HP:0000256|Macrocephaly;HP:0000138|Ovarian cyst;HP:0001508|Failure to thrive;HP:0100780|Conjunctival hamartoma;HP:0010609|Skin tags;HP:0000036|Abnormality of the penis;HP:0004481|Progressively abnormally enlarging cranium;HP:0100543|Cognitive impairment;HP:0000347|Hypoplasia of mandible;HP:0000545|Myopia;HP:0006731|Follicular thyroid carcinoma;HP:0100579|Mucosal telangiectasiae;HP:0000767|Pectus excavatum;HP:0001251|Ataxia;HP:0005374|Cellular immunodeficiency;HP:0000771|Gynaecomastia;HP:0012114|Endometrial carcinoma;HP:0002516|Increased intracranial pressure;HP:0000982|Palmoplantar keratoderma;HP:0100031|Neoplasm of the thyroid gland;HP:0005595|Generalized hyperkeratosis;HP:0000327|Maxillary micrognathia;HP:0004390|Hamartomatous polyps;HP:0000995|Melanocytic nevus;HP:0001249|Intellectual disability;HP:0008675|Enlarged polycystic ovaries;HP:0002597|Abnormality of blood vessels;HP:0000160|Small mouth;HP:0007565|Multiple cafe-au-lait spots;HP:0200034|Papule;HP:0003002|Breast carcinoma;HP:0001317|Abnormality of the cerebellum;HP:0001263|Global developmental delay;HP:0000767|Funnel chest;HP:0008069|Neoplasm of the skin;HP:0001156|Brachydactyly syndrome;HP:0010614|Fibroma;HP:0100646|Thyroiditis;HP:0001031|Subcutaneous lipoma;HP:0000221|Scrotal tongue;HP:0001250|Seizures;HP:0002080|Intention tremor;HP:0000218|Increased palatal height;HP:0002650|Scoliosis;HP:0002808|Kyphosis;HP:0012871|Varicocele;HP:0000853|Goiter;HP:0200063|Colorectal polyposis;HP:0000854|Thyroid adenoma;HP:0012740|Papilloma;HP:0004390|Hamartomatous polyposis;HP:0000518|Cataract;HP:0006740|Transitional cell bladder carcinoma;HP:0001048|Cavernous hemangioma;HP:0012032|Lipoma;HP:0001482|Subcutaneous nodule;HP:0000034|Testicular hydrocele;HP:0009720|Adenoma sebaceum;HP:0000853|Goitre;HP:0002808|Gibbus deformity;HP:0001053|Hypopigmented skin patches;HP:0000972|Thick palms and soles;HP:0001102|Angioid streaks;HP:0005584|Renal cell carcinoma;HP:0000158|Macroglossia;HP:0002861|Melanoma;HP:0002253|Colonic diverticulosis;HP:0002664|Neoplasm;HP:0000077|Abnormality of the kidney;HP:0000545|Near sightedness;HP:0000820|Abnormality of the thyroid gland;HP:0012062|Bone cyst;HP:0000717|Autism;HP:0001256|Mild mental retardation;HP:0100006|Neoplasm of the central nervous system
leigh syndrome	HP:0000639|Nystagmus;HP:0001250|Seizures;HP:0001251|Ataxia;HP:0002093|Respiratory insufficiency;HP:0008972|Decreased activity of mitochondrial respiratory chain;HP:0100543|Cognitive impairment;HP:0000486|Strabismus;HP:0100022|Abnormality of movement;HP:0001252|Muscular hypotonia;HP:0000648|Optic atrophy;HP:0004374|Hemiplegia/hemiparesis;HP:0007650|Progressive ophthalmoplegia;HP:0007020|Progressive spastic paraplegia
multiple myeloma	HP:0002202|Pleural effusion;HP:0012378|Fatigue;HP:0002653|Bone pain;HP:0003261|Increased IgA level;HP:0001824|Weight loss;HP:0002176|Spinal cord compression;HP:0003401|Paresthesia;HP:0002716|Lymphadenopathy;HP:0000098|Tall stature;HP:0004341|Abnormality of vitamin B12 metabolism;HP:0012719|Functional abnormality of the gastrointestinal tract;HP:0004313|Decreased antibody level in blood;HP:0000112|Nephropathy;HP:0002953|Vertebral compression fractures;HP:0001903|Anemia;HP:0000938|Osteopenia;HP:0003259|Elevated serum creatinine;HP:0001919|Acute kidney injury;HP:0003072|Hypercalcemia;HP:0001744|Splenomegaly;HP:0003237|Increased IgG level;HP:0000014|Abnormality of the bladder;HP:0002152|Hyperproteinemia;HP:0000100|Nephrotic syndrome;HP:0002756|Pathologic fracture;HP:0003324|Generalized muscle weakness
li-fraumeni syndrome	HP:0004375|Neoplasm of the nervous system;HP:0002664|Neoplasm;HP:0002665|Lymphoma;HP:0002894|Neoplasm of the pancreas;HP:0008069|Neoplasm of the skin;HP:0100242|Sarcoma;HP:0100641|Neoplasm of the adrenal cortex;HP:0002448|Progressive encephalopathy;HP:0100273|Neoplasm of the colon;HP:0003002|Breast carcinoma;HP:0002669|Osteosarcoma;HP:0002861|Melanoma
huntington disease	HP:0002353|EEG abnormality;HP:0000708|Behavioral abnormality;HP:0001257|Spasticity;HP:0001608|Abnormality of the voice;HP:0100022|Abnormality of movement;HP:0000726|Dementia;HP:0002120|Cerebral cortical atrophy;HP:0002376|Developmental regression
alpha-1-antitrypsin deficiency	HP:0001399|Hepatic failure;HP:0002097|Emphysema;HP:0000100|Nephrotic syndrome;HP:0012115|Hepatitis;HP:0002240|Hepatomegaly;HP:0000952|Jaundice
stevens-johnson syndrome	HP:0002239|Gastrointestinal hemorrhage;HP:0012733|Macule;HP:0002094|Dyspnea;HP:0012378|Fatigue;HP:0001733|Pancreatitis;HP:0002015|Dysphagia;HP:0002027|Abdominal pain;HP:0001824|Weight loss;HP:0100806|Sepsis;HP:0000083|Renal insufficiency;HP:0002205|Recurrent respiratory infections;HP:0001637|Abnormality of the myocardium;HP:0006554|Acute hepatic failure;HP:0002091|Restrictive lung disease;HP:0010783|Erythema;HP:0001873|Thrombocytopenia;HP:0100792|Acantholysis;HP:0002014|Diarrhea;HP:0001874|Abnormality of neutrophils;HP:0200020|Corneal erosion;HP:0002017|Nausea and vomiting;HP:0008066|Abnormal blistering of the skin;HP:0001903|Anemia;HP:0100518|Dysuria;HP:0001658|Myocardial infarction;HP:0001960|Hypokalemic metabolic alkalosis;HP:0003781|Excessive salivation;HP:0000795|Abnormality of the urethra;HP:0030016|Dyspareunia;HP:0001945|Fever;HP:0002043|Esophageal stricture;HP:0012735|Cough;HP:0002103|Abnormality of the pleura;HP:0002910|Elevated hepatic transaminases;HP:0001645|Sudden cardiac death;HP:0000505|Visual impairment;HP:0000613|Photophobia;HP:0000621|Entropion;HP:0000509|Conjunctivitis
cystinuria	HP:0000790|Hematuria;HP:0004337|Abnormality of amino acid metabolism;HP:0000787|Nephrolithiasis;HP:0002149|Hyperuricemia;HP:0000083|Renal insufficiency
bardet-biedl syndrome	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0000470|Short neck;HP:0004322|Short stature;HP:0001395|Hepatic fibrosis;HP:0000365|Hearing impairment;HP:0000512|Abnormal electroretinogram;HP:0000135|Hypogonadism;HP:0008736|Hypoplasia of penis;HP:0006101|Finger syndactyly;HP:0002167|Neurological speech impairment;HP:0000580|Pigmentary retinopathy;HP:0000822|Hypertension;HP:0001162|Postaxial hand polydactyly;HP:0000494|Downslanted palpebral fissures;HP:0000003|Multicystic kidney dysplasia;HP:0010747|Medial flaring of the eyebrow;HP:0002230|Generalized hirsutism;HP:0001249|Intellectual disability;HP:0008724|Hypoplasia of the ovary;HP:0000426|Prominent nasal bridge;HP:0001513|Obesity;HP:0000100|Nephrotic syndrome;HP:0000368|Low-set, posteriorly rotated ears;HP:0003202|Skeletal muscle atrophy
pseudoxanthoma elasticum	HP:0012508|Metamorphopsia;HP:0001061|Acne;HP:0002239|Gastrointestinal hemorrhage;HP:0001012|Multiple lipomas;HP:0001065|Striae distensae;HP:0000545|Myopia;HP:0007663|Central visual loss;HP:0000978|Bruising susceptibility;HP:0000592|Blue sclerae;HP:0000474|Thickened nuchal skin fold;HP:0001482|Subcutaneous nodule;HP:0001718|Mitral stenosis;HP:0000218|High palate;HP:0100585|Telangiectasia of the skin;HP:0100659|Abnormality of the cerebral vasculature;HP:0000974|Hyperextensible skin;HP:0100545|Arterial stenosis;HP:0000083|Renal insufficiency;HP:0001635|Congestive heart failure;HP:0001034|Hyperpigmented spots;HP:0007392|Excessive wrinkled skin;HP:0000153|Abnormal mouth;HP:0004306|Abnormality of the endocardium;HP:0002564|Malformation of the heart and great vessels;HP:0001102|Angioid streaks;HP:0005692|Joint hyperflexibility;HP:0000822|Hypertension;HP:0001723|Restrictive cardiomyopathy;HP:0004374|Hemiplegia/hemiparesis;HP:0002617|Aneurysm;HP:0001681|Angina pectoris;HP:0001102|Angioid streaks of the retina;HP:0000505|Poor vision;HP:0000121|Nephrocalcinosis;HP:0002650|Scoliosis;HP:0000951|Abnormality of the skin;HP:0002514|Cerebral calcification;HP:0100817|Renovascular hypertension;HP:0001297|Cerebral vascular events;HP:0004417|Intermittent claudication;HP:0000988|Skin rash;HP:0001634|Mitral valve prolapse;HP:0000573|Retinal hemorrhage;HP:0000505|Visual impairment;HP:0001645|Sudden cardiac death;HP:0000488|Retinopathy;HP:0001872|Abnormality of thrombocytes;HP:0002172|Postural instability;HP:0100679|Lack of skin elasticity;HP:0000765|Abnormality of the thorax;HP:0000608|Macular degeneration;HP:0000989|Pruritus;HP:0004943|Accelerated atherosclerosis;HP:0000821|Hypothyroidism;HP:0002621|Atherosclerosis
werner syndrome	HP:0002216|Premature graying of hair;HP:0002211|White forelock;HP:0002860|Squamous cell carcinoma;HP:0003777|Pili torti;HP:0000518|Cataract;HP:0012060|Acral lentiginous melanoma;HP:0004322|Short stature;HP:0001601|Laryngomalacia;HP:0100833|Neoplasm of the small intestine;HP:0100585|Telangiectasia of the skin;HP:0001533|Slender build;HP:0001838|Rocker bottom foot;HP:0007495|Prematurely aged appearance;HP:0002858|Meningioma;HP:0100659|Abnormality of the cerebral vasculature;HP:0000135|Hypogonadism;HP:0000869|Secondary amenorrhea;HP:0001635|Congestive heart failure;HP:0002672|Gastrointestinal carcinoma;HP:0100526|Neoplasm of the lung;HP:0010468|Aplasia/Hypoplasia of the testes;HP:0012056|Cutaneous melanoma;HP:0000855|Insulin resistance;HP:0007618|Subcutaneous calcification;HP:0000934|Chondrocalcinosis;HP:0000822|Hypertension;HP:0010721|Abnormal hair whorl;HP:0200042|Skin ulcer;HP:0100578|Lipoatrophy;HP:0009125|Lipodystrophy;HP:0002861|Melanoma;HP:0000962|Hyperkeratosis;HP:0005978|Type II diabetes mellitus;HP:0002664|Neoplasm;HP:0011001|Increased bone mineral density;HP:0001658|Myocardial infarction;HP:0100649|Neoplasm of the oral cavity;HP:0005268|Spontaneous abortion;HP:0001608|Abnormality of the voice;HP:0002209|Sparse scalp hair;HP:0000275|Narrow face;HP:0002621|Atherosclerosis;HP:0000939|Osteoporosis;HP:0004415|Pulmonary artery stenosis;HP:0100242|Sarcoma;HP:0009726|Renal neoplasm;HP:0007703|Abnormality of retinal pigmentation;HP:0200055|Small hand;HP:0100615|Ovarian neoplasm;HP:0002890|Thyroid carcinoma;HP:0001387|Joint stiffness;HP:0000444|Convex nasal ridge;HP:0100679|Lack of skin elasticity;HP:0000765|Abnormality of the thorax;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0000144|Decreased fertility;HP:0003002|Breast carcinoma;HP:0003202|Skeletal muscle atrophy;HP:0000035|Abnormality of the testis
maple syrup urine disease	HP:0001263|Global developmental delay;HP:0001507|Abnormal growth;HP:0000738|Sensory hallucination;HP:0001946|High levels of ketone bodies;HP:0000600|Abnormality of the pharynx;HP:0001251|Ataxia;HP:0001254|Lethargy;HP:0001943|Hypoglycemia;HP:0001315|Reduced tendon reflexes;HP:0004374|Hemiplegia/hemiparesis;HP:0001276|Hypertonia;HP:0001249|Mental retardation;HP:0008872|Feeding difficulties in infancy;HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0002093|Respiratory insufficiency;HP:0003128|Lactic acidosis;HP:0001733|Pancreatic inflammation;HP:0001259|Coma;HP:0001608|Abnormality of the voice;HP:0008344|Elevated plasma branched chain amino acids;HP:0002181|Cerebral edema;HP:0001249|Intellectual disability;HP:0001252|Muscular hypotonia;HP:0002013|Emesis
lynch syndrome	HP:0002239|Gastrointestinal hemorrhage;HP:0100576|Amaurosis fugax;HP:0010622|Neoplasm of the skeletal system;HP:0200008|Intestinal polyposis;HP:0012378|Fatigue;HP:0100571|Cardiac diverticulum;HP:0007256|Abnormal pyramidal signs;HP:0100660|Dyskinesia;HP:0002019|Constipation;HP:0002027|Abdominal pain;HP:0001824|Weight loss;HP:0002354|Memory impairment;HP:0002376|Developmental regression;HP:0001260|Dysarthria;HP:0002671|Basal cell carcinoma;HP:0003401|Paresthesia;HP:0001371|Flexion contracture;HP:0002167|Neurological speech impairment;HP:0002516|Increased intracranial pressure;HP:0002017|Nausea and vomiting;HP:0001522|Death in infancy;HP:0004374|Hemiplegia/hemiparesis;HP:0000739|Anxiety;HP:0001276|Hypertonia;HP:0003003|Colon cancer;HP:0002024|Malabsorption;HP:0100743|Neoplasm of the rectum;HP:0006725|Pancreatic adenocarcinoma;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0100031|Neoplasm of the thyroid gland;HP:0012113|Abnormality of creatine metabolism;HP:0001288|Gait disturbance;HP:0001402|Hepatocellular carcinoma;HP:0002893|Pituitary adenoma;HP:0010786|Urinary tract neoplasm;HP:0007018|Attention deficit hyperactivity disorder;HP:0100843|Glioblastoma;HP:0002076|Migraine;HP:0100615|Ovarian neoplasm;HP:0010526|Dysgraphia;HP:0003006|Neuroblastoma;HP:0000505|Visual impairment;HP:0001123|Visual field defect;HP:0002894|Neoplasm of the pancreas;HP:0000738|Hallucinations;HP:0000716|Depression;HP:0000737|Irritability;HP:0010524|Agnosia;HP:0001252|Muscular hypotonia;HP:0100835|Benign neoplasm of the central nervous system;HP:0100613|Death in early adulthood
epidermodysplasia verruciformis	HP:0002860|Squamous cell carcinoma;HP:0200039|Pustule;HP:0200035|Skin plaque;HP:0001939|Laboratory abnormality;HP:0001051|Seborrheic dermatitis;HP:0001053|Hypopigmented skin patches;HP:0002715|Abnormality of the immune system;HP:0100585|Telangiectasia of the skin;HP:0007565|Multiple cafe-au-lait spots;HP:0200034|Papule;HP:0200043|Verrucae;HP:0001581|Recurrent skin infections;HP:0002671|Basalioma
leber hereditary optic neuropathy	HP:0001112|Leber optic atrophy;HP:0003198|Myopathy;HP:0000572|Visual loss;HP:0004309|Ventricular preexcitation;HP:0000622|Blurred vision;HP:0002490|Increased CSF lactate;HP:0000648|Optic-nerve degeneration;HP:0002305|Involuntary writhing movements;HP:0001257|Spasticity;HP:0001251|Ataxia;HP:0000603|Central scotoma;HP:0009830|Peripheral neuropathy;HP:0001332|Dystonia;HP:0009830|Peripheral neuritis;HP:0200125|Mitochondrial respiratory chain defects;HP:0002174|Postural tremor;HP:0001249|Mental retardation;HP:0002067|Bradykinesia;HP:0007763|Retinal telangiectasia;HP:0000576|Centrocecal scotoma;HP:0003202|Neurogenic muscle atrophy, especially in the lower limbs;HP:0002650|Scoliosis;HP:0011675|Arrhythmia;HP:0000726|Dementia;HP:0001260|Dysarthric speech;HP:0000648|Optic atrophy;HP:0002015|Swallowing difficulty;HP:0012841|Retinal vascular tortuosity;HP:0000496|Ocular movement abnormalities;HP:0007924|Slow decrease in visual acuity;HP:0002151|Increased serum lactate
williams syndrome	HP:0004398|Peptic ulcer;HP:0000028|Cryptorchidism;HP:0001310|Dysmetria;HP:0000307|Pointed chin;HP:0004322|Short stature;HP:0004381|Supravalvular aortic stenosis;HP:0007495|Prematurely aged appearance;HP:0007477|Abnormal dermatoglyphics;HP:0100545|Arterial stenosis;HP:0001361|Nystagmus-induced head nodding;HP:0008736|Hypoplasia of penis;HP:0001257|Spasticity;HP:0000347|Micrognathia;HP:0000154|Wide mouth;HP:0003236|Elevated serum creatine phosphokinase;HP:0003119|Abnormality of lipid metabolism;HP:0006482|Abnormality of dental morphology;HP:0003298|Spina bifida occulta;HP:0002141|Gait imbalance;HP:0000343|Long philtrum;HP:0001636|Tetralogy of Fallot;HP:0004428|Elfin facies;HP:0000736|Short attention span;HP:0001249|Mental retardation;HP:0002024|Malabsorption;HP:0001052|Nevus flammeus;HP:0000632|Lacrimation abnormality;HP:0003312|Abnormal form of the vertebral bodies;HP:0007957|Corneal opacity;HP:0001288|Gait disturbance;HP:0001658|Myocardial infarction;HP:0011001|Increased bone mineral density;HP:0000252|Microcephaly;HP:0001647|Bicuspid aortic valve;HP:0004305|Involuntary movements;HP:0100817|Renovascular hypertension;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0003028|Abnormality of the ankles;HP:0001634|Mitral valve prolapse;HP:0000014|Abnormality of the bladder;HP:0004969|Peripheral pulmonary artery stenosis;HP:0005344|Abnormality of the carotid arteries;HP:0001136|Retinal arteriolar tortuosity;HP:0000716|Depression;HP:0001252|Muscular hypotonia;HP:0001231|Abnormality of the fingernails;HP:0000821|Hypothyroidism;HP:0000044|Hypogonadotrophic hypogonadism;HP:0000670|Carious teeth;HP:0005562|Multiple renal cysts;HP:0002183|Phonophobia;HP:0000545|Myopia;HP:0000722|Obsessive-compulsive behavior;HP:0003198|Myopathy;HP:0000232|Everted lower lip vermilion;HP:0000767|Pectus excavatum;HP:0000010|Recurrent urinary tract infections;HP:0001631|Atrial septal defect;HP:0001260|Dysarthria;HP:0002035|Rectal prolapse;HP:0002999|Patellar dislocation;HP:0002829|Arthralgia;HP:0001251|Ataxia;HP:0008661|Urethral stenosis;HP:0012433|Abnormal social behavior;HP:0000668|Hypodontia;HP:0000822|Hypertension;HP:0002120|Cerebral cortical atrophy;HP:0000125|Pelvic kidney;HP:0000147|Polycystic ovaries;HP:0000286|Epicanthus;HP:0001618|Dysphonia;HP:0001081|Cholelithiasis;HP:0001822|Hallux valgus;HP:0002150|Hypercalciuria;HP:0005113|Dilatation of the aortic arch;HP:0001388|Joint laxity;HP:0001608|Abnormality of the voice;HP:0002623|Overriding aorta;HP:0001181|Adducted thumb;HP:0000089|Renal hypoplasia;HP:0200021|Down-sloping shoulders;HP:0000023|Inguinal hernia;HP:0001249|Intellectual disability;HP:0010526|Dysgraphia;HP:0010807|Open bite;HP:0002750|Delayed skeletal maturation;HP:0000368|Low-set, posteriorly rotated ears;HP:0100785|Insomnia;HP:0000212|Gingival overgrowth;HP:0100539|Periorbital edema;HP:0100240|Synostosis of joints;HP:0001671|Abnormality of the cardiac septa;HP:0000787|Nephrolithiasis;HP:0000691|Decreased width of tooth;HP:0000682|Abnormality of dental enamel;HP:0000581|Blepharophimosis;HP:0003196|Short nose;HP:0001629|Ventricular septal defect;HP:0002027|Abdominal pain;HP:0002575|Tracheoesophageal fistula;HP:0000075|Renal duplication;HP:0000337|Broad forehead;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0004322|Stature below 3rd percentile;HP:0004306|Abnormality of the endocardium;HP:0003307|Hyperlordosis;HP:0008499|High-grade hypermetropia;HP:0002167|Neurological speech impairment;HP:0005692|Joint hyperflexibility;HP:0008053|Aplasia/Hypoplasia of the iris;HP:0001643|Patent ductus arteriosus;HP:0002308|Arnold-Chiari malformation;HP:0000407|Sensorineural hearing impairment;HP:0000739|Anxiety;HP:0000076|Vesicoureteral reflux;HP:0007372|Atrophy/Degeneration involving the corticospinal tracts;HP:0002020|Gastroesophageal reflux;HP:0000121|Nephrocalcinosis;HP:0000275|Narrow face;HP:0002650|Scoliosis;HP:0010662|Abnormality of the diencephalon;HP:0000389|Chronic otitis media;HP:0000939|Osteoporosis;HP:0000485|Megalocornea;HP:0000025|Functional abnormality of male internal genitalia;HP:0002808|Kyphosis;HP:0010780|Hyperacusis;HP:0002253|Colonic diverticula;HP:0100025|Overfriendliness;HP:0001626|Abnormality of the cardiovascular system;HP:0002974|Radioulnar synostosis;HP:0001800|Hypoplastic toenails;HP:0003072|Hypercalcemia;HP:0000691|Microdontia;HP:0001645|Sudden cardiac death;HP:0000505|Visual impairment;HP:0001582|Redundant skin;HP:0001347|Hyperreflexia;HP:0001763|Pes planus;HP:0000280|Coarse facial features;HP:0012639|Abnormality of nervous system morphology;HP:0001297|Stroke;HP:0000518|Cataract;HP:0000826|Precocious puberty;HP:0002019|Constipation;HP:0000464|Abnormality of the neck;HP:0002637|Cerebral ischemia;HP:0002376|Developmental regression;HP:0100659|Abnormality of the cerebral vasculature;HP:0000093|Proteinuria;HP:0004295|Abnormality of the gastric mucosa;HP:0000083|Renal insufficiency;HP:0001635|Congestive heart failure;HP:0002205|Recurrent respiratory infections;HP:0001653|Mitral regurgitation;HP:0007720|Flat cornea;HP:0001537|Umbilical hernia;HP:0000486|Strabismus;HP:0001531|Failure to thrive in infancy;HP:0000158|Macroglossia;HP:0000960|Sacral dimple;HP:0001969|Tubulointerstitial abnormality;HP:0000015|Bladder diverticulum;HP:0001639|Hypertrophic cardiomyopathy;HP:0001640|Cardiomegaly;HP:0002017|Nausea and vomiting;HP:0000232|Everted prominent lower lip;HP:0001642|Pulmonic stenosis;HP:0001609|Hoarse voice;HP:0002071|Abnormality of extrapyramidal motor function;HP:0005978|Type II diabetes mellitus;HP:0000635|Blue irides;HP:0000627|Posterior embryotoxon;HP:0000938|Osteopenia;HP:0007018|Attention deficit hyperactivity disorder;HP:0002857|Genu valgum;HP:0000717|Autism;HP:0000272|Depressed malar region;HP:0000411|Protruding ear;HP:0000179|Thick lower lip vermilion;HP:0001513|Obesity;HP:0003422|Vertebral segmentation defect;HP:0000348|High forehead;HP:0010880|Increased nuchal translucency;HP:0001387|Joint stiffness;HP:0001337|Tremor;HP:0000400|Macrotia;HP:0000501|Glaucoma;HP:0000689|Dental malocclusion;HP:0100613|Death in early adulthood;HP:0001650|Valvular aortic stenosis;HP:0010669|Cheekbone underdevelopment
malt lymphoma	HP:0002716|Lymphadenopathy;HP:0000975|Hyperhidrosis;HP:0000505|Visual impairment;HP:0012123|Posterior uveitis;HP:0012378|Fatigue;HP:0100721|Mediastinal lymphadenopathy;HP:0001903|Anemia;HP:0012191|B-cell lymphoma;HP:0002027|Abdominal pain;HP:0002113|Pulmonary infiltrates;HP:0000614|Abnormality of the nasolacrimal system;HP:0001824|Weight loss;HP:0001945|Fever;HP:0002017|Nausea and vomiting;HP:0002019|Constipation;HP:0000820|Abnormality of the thyroid gland;HP:0002205|Recurrent respiratory infections
essential thrombocythemia	HP:0011875|Abnormal platelet morphology;HP:0100576|Amaurosis fugax;HP:0100659|Abnormality of the cerebral vasculature;HP:0003401|Paresthesia;HP:0003010|Prolonged bleeding time;HP:0000822|Hypertension;HP:0011974|Myelofibrosis;HP:0001894|Thrombocytosis;HP:0000924|Abnormality of the skeletal system;HP:0005547|Myeloproliferative disorder;HP:0003540|Platelet aggregation defect;HP:0001658|Myocardial infarction;HP:0004936|Venous thrombosis;HP:0005513|Increased megakaryocyte count;HP:0001744|Splenomegaly;HP:0005561|Abnormality of bone marrow cell morphology;HP:0001872|Abnormality of thrombocytes;HP:0002326|Transient ischemic attack;HP:0002488|Acute leukemia;HP:0002863|Myelodysplasia;HP:0100749|Chest pain;HP:0004420|Arterial thrombosis;HP:0001063|Acrocyanosis
multiple endocrine neoplasia type 2	HP:0000157|Abnormality of the tongue;HP:0000843|Hyperparathyroidism;HP:0003639|Increased urinary epinephrine;HP:0001012|Multiple lipomas;HP:0008221|Adrenal hyperplasia;HP:0000492|Abnormality of the eyelid;HP:0000787|Nephrolithiasis;HP:0200008|Intestinal polyposis;HP:0012378|Fatigue;HP:0002653|Bone pain;HP:0001166|Arachnodactyly;HP:0002019|Constipation;HP:0001824|Weight loss;HP:0002027|Abdominal pain;HP:0002251|Aganglionic megacolon;HP:0003005|Ganglioneuroma;HP:0003198|Myopathy;HP:0000767|Pectus excavatum;HP:0012649|Increased inflammatory response;HP:0005214|Intestinal obstruction;HP:0002716|Lymphadenopathy;HP:0003401|Paresthesia;HP:0000098|Tall stature;HP:0004370|Abnormality of temperature regulation;HP:0003307|Hyperlordosis;HP:0002014|Diarrhea;HP:0005692|Joint hyperflexibility;HP:0002615|Hypotension;HP:0000822|Hypertension;HP:0001574|Abnormality of the integument;HP:0002017|Nausea and vomiting;HP:0009830|Peripheral neuropathy;HP:0004372|Reduced consciousness/confusion;HP:0001944|Dehydration;HP:0100735|Hypertensive crisis;HP:0000739|Anxiety;HP:0000175|Cleft palate;HP:0010741|Edema of the lower limbs;HP:0003528|Elevated calcitonin;HP:0002666|Pheochromocytoma;HP:0007400|Irregular hyperpigmentation;HP:0002650|Scoliosis;HP:0011675|Arrhythmia;HP:0001131|Corneal dystrophy;HP:0002808|Kyphosis;HP:0002251|Hirschsprung megacolon;HP:0006443|Patellar aplasia;HP:0002865|Medullary thyroid carcinoma;HP:0003118|Increased circulating cortisol level;HP:0001761|Pes cavus;HP:0000988|Skin rash;HP:0003100|Slender long bone;HP:0003072|Hypercalcemia;HP:0011830|Abnormality of oral mucosa;HP:0100631|Neoplasm of the adrenal gland;HP:0000179|Thick lower lip vermilion;HP:0000958|Dry skin;HP:0001324|Muscle weakness;HP:0001337|Tremor;HP:0000819|Diabetes mellitus;HP:0000716|Depression;HP:0000989|Pruritus;HP:0001252|Muscular hypotonia;HP:0002039|Anorexia;HP:0007565|Multiple cafe-au-lait spots;HP:0100835|Benign neoplasm of the central nervous system;HP:0000980|Pallor;HP:0002897|Parathyroid adenoma
neuroblastoma	HP:0002277|Horner's syndrome;HP:0010543|Opsoclonus;HP:0011977|Elevated urinary homovanillic acid;HP:0002653|Bone pain;HP:0011979|Elevated urinary dopamine;HP:0002027|Abdominal pain;HP:0001824|Weight loss;HP:0003005|Ganglioneuroma;HP:0002176|Spinal cord compression;HP:0001336|Myoclonic jerks;HP:0006747|Ganglioneuroblastoma;HP:0004375|Neoplasm of the nervous system;HP:0001251|Ataxia;HP:0002014|Diarrhea;HP:0000822|Hypertension;HP:0001903|Anemia;HP:0011976|Elevated urinary catecholamines;HP:0001508|Weight faltering;HP:0011978|Elevated urinary vanillylmandelic acid;HP:0001945|Fever;HP:0003006|Neuroblastoma;HP:0000765|Abnormality of the thorax;HP:0200036|Skin nodule
moyamoya disease	HP:0100659|Abnormality of the cerebral vasculature;HP:0001009|Telangiectasia;HP:0002119|Ventriculomegaly;HP:0001250|Seizures;HP:0001249|Intellectual disability
amyotrophic lateral sclerosis	HP:0030192|Fatigable weakness of bulbar muscles;HP:0002094|Dyspnea;HP:0012378|Fatigue;HP:0007354|Amyotrophic lateral sclerosis;HP:0012531|Pain;HP:0000217|Xerostomia;HP:0001257|Spasticity;HP:0030195|Fatigable weakness of swallowing muscles;HP:0002017|Nausea and vomiting;HP:0003394|Muscle cramps;HP:0000739|Anxiety;HP:0000713|Agitation;HP:0003470|Paralysis;HP:0030196|Fatigable weakness of respiratory muscles;HP:0005945|Laryngeal obstruction;HP:0002180|Neurodegeneration;HP:0000712|Emotional lability;HP:0002795|Functional respiratory abnormality;HP:0007373|Motor neuron atrophy;HP:0002878|Respiratory failure;HP:0000716|Depression;HP:0003324|Generalized muscle weakness;HP:0003202|Skeletal muscle atrophy
cystic fibrosis	HP:0001738|Exocrine pancreatic insufficiency;HP:0006532|Pneumonia, recurrent episodes;HP:0006528|Chronic lung disease;HP:0002240|Hepatomegaly;HP:0002110|Bronchiectasis;HP:0002721|Immunodeficiency;HP:0002613|Biliary cirrhosis;HP:0002206|Pulmonary fibrosis;HP:0004313|Decreased antibody level in blood;HP:0001648|Cor pulmonale;HP:0001508|Weight faltering;HP:0003251|Male infertility;HP:0002150|Hypercalcinuria;HP:0001944|Dehydration;HP:0006538|Recurrent bronchopulmonary infections;HP:0004401|Meconium ileus;HP:0012236|Elevated sweat chloride;HP:0002099|Asthma;HP:0002035|Rectal prolapse;HP:0002024|Malabsorption;HP:0002205|Recurrent respiratory infections
myasthenia gravis	HP:0002094|Dyspnea;HP:0002015|Dysphagia;HP:0012410|Pure red cell aplasia;HP:0000365|Hearing impairment;HP:0001283|Bulbar palsy;HP:0000508|Ptosis;HP:0001260|Dysarthria;HP:0030208|Acetylcholine receptor antibody positivity;HP:0003401|Paresthesia;HP:0000777|Abnormality of the thymus;HP:0000872|Hashimoto thyroiditis;HP:0001878|Hemolytic anemia;HP:0001250|Seizures;HP:0000709|Psychosis;HP:0003076|Glycosuria;HP:0030210|Muscle specific kinase antibody positivity;HP:0000651|Diplopia;HP:0002725|Systemic lupus erythematosus;HP:0001370|Rheumatoid arthritis;HP:0000597|Ophthalmoparesis;HP:0010780|Hyperacusis;HP:0100614|Myositis;HP:0001324|Muscle weakness;HP:0030006|Single fiber EMG abnormality;HP:0008207|Primary adrenal insufficiency;HP:0001063|Acrocyanosis;HP:0012115|Hepatitis;HP:0000836|Hyperthyroidism
progressive supranuclear palsy	HP:0000496|Abnormality of eye movement;HP:0100543|Cognitive impairment;HP:0002015|Dysphagia;HP:0002354|Memory impairment;HP:0002527|Falls;HP:0000643|Blepharospasm;HP:0002529|Neuronal loss in central nervous system;HP:0000623|Supranuclear ophthalmoplegia;HP:0000750|Delayed speech and language development;HP:0000514|Slow saccadic eye movements;HP:0002171|Gliosis;HP:0000605|Supranuclear gaze palsy;HP:0001332|Dystonia;HP:0002120|Cerebral cortical atrophy;HP:0002067|Bradykinesia;HP:0002063|Rigidity;HP:0000726|Dementia;HP:0012535|Abnormal synaptic transmission;HP:0100710|Impulsivity;HP:0002317|Unsteady gait;HP:0002172|Postural instability;HP:0000511|Vertical supranuclear gaze palsy;HP:0001337|Tremor;HP:0002200|Pseudobulbar signs;HP:0000716|Depression;HP:0002381|Aphasia
polycystic ovary syndrome	HP:0008675|Enlarged polycystic ovaries;HP:0000141|Abnormal absence of menstruation;HP:0001513|Obesity;HP:0001939|Laboratory abnormality;HP:0001007|Hirsutism;HP:0000876|Oligomenorrhea
granulomatosis with polyangiitis	HP:0000520|Proptosis;HP:0002239|Gastrointestinal hemorrhage;HP:0012378|Fatigue;HP:0000071|Ureteral stenosis;HP:0001733|Pancreatitis;HP:0000246|Sinusitis;HP:0000873|Diabetes insipidus;HP:0006510|Chronic obstructive pulmonary disease;HP:0002027|Abdominal pain;HP:0002960|Autoimmunity;HP:0001824|Weight loss;HP:0002637|Cerebral ischemia;HP:0006535|Recurrent intrapulmonary hemorrhage;HP:0001287|Meningitis;HP:0000366|Abnormality of the nose;HP:0000093|Proteinuria;HP:0012649|Increased inflammatory response;HP:0000083|Renal insufficiency;HP:0002205|Recurrent respiratory infections;HP:0002829|Arthralgia;HP:0002102|Pleuritis;HP:0002091|Restrictive lung disease;HP:0003326|Myalgia;HP:0003565|Elevated erythrocyte sedimentation rate;HP:0005214|Intestinal obstruction;HP:0100820|Glomerulopathy;HP:0100533|Inflammatory abnormality of the eye;HP:0000126|Hydronephrosis;HP:0002206|Pulmonary fibrosis;HP:0009830|Peripheral neuropathy;HP:0002113|Pulmonary infiltrates;HP:0000822|Hypertension;HP:0002017|Nausea and vomiting;HP:0200034|Papule;HP:0200042|Skin ulcer;HP:0000979|Purpura;HP:0000790|Hematuria;HP:0000407|Sensorineural hearing impairment;HP:0002105|Hemoptysis;HP:0001681|Angina pectoris;HP:0001250|Seizures;HP:0000388|Otitis media;HP:0002633|Vasculitis;HP:0000763|Sensory neuropathy;HP:0002955|Granulomatosis;HP:0002093|Respiratory insufficiency;HP:0000163|Abnormality of the oral cavity;HP:0002301|Hemiplegia;HP:0004936|Venous thrombosis;HP:0011675|Arrhythmia;HP:0000389|Chronic otitis media;HP:0001945|Fever;HP:0012735|Cough;HP:0001701|Pericarditis;HP:0000988|Skin rash;HP:0000864|Abnormality of the hypothalamus-pituitary axis;HP:0000421|Epistaxis;HP:0000505|Visual impairment;HP:0000488|Retinopathy;HP:0100749|Chest pain;HP:0000024|Prostatitis;HP:0006824|Cranial nerve paralysis;HP:0011227|Elevated C-reactive protein level;HP:0100758|Gangrene;HP:0100539|Periorbital edema;HP:0002315|Headache
brugada syndrome	HP:0001663|Ventricular fibrillation;HP:0001695|Cardiac arrest
rubinstein-taybi syndrome	HP:0000028|Cryptorchidism;HP:0000670|Carious teeth;HP:0001263|Global developmental delay;HP:0002553|Highly arched eyebrow;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0002019|Constipation;HP:0100760|Clubbing of toes;HP:0000218|High palate;HP:0000508|Ptosis;HP:0001156|Brachydactyly syndrome;HP:0000987|Atypical scarring of skin;HP:0000347|Micrognathia;HP:0006101|Finger syndactyly;HP:0000506|Telecanthus;HP:0000369|Low-set ears;HP:0002564|Malformation of the heart and great vessels;HP:0000486|Strabismus;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0001531|Failure to thrive in infancy;HP:0000164|Abnormality of the teeth;HP:0005306|Capillary hemangiomas;HP:0000739|Anxiety;HP:0000494|Downslanted palpebral fissures;HP:0008872|Feeding difficulties in infancy;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0010562|Keloids;HP:0002093|Respiratory insufficiency;HP:0000252|Microcephaly;HP:0002230|Generalized hirsutism;HP:0007018|Attention deficit hyperactivity disorder;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0010059|Broad hallux phalanx;HP:0001249|Intellectual disability;HP:0001385|Hip dysplasia;HP:0000579|Nasolacrimal duct obstruction;HP:0009832|Abnormality of the distal phalanx of finger;HP:0000444|Convex nasal ridge;HP:0011304|Broad thumb;HP:0000737|Irritability;HP:0000501|Glaucoma;HP:0001561|Polyhydramnios
peutz-jeghers syndrome	HP:0005562|Multiple renal cysts;HP:0002239|Gastrointestinal hemorrhage;HP:0012733|Macule;HP:0001003|Multiple lentigines;HP:0002013|Vomiting;HP:0100574|Biliary tract neoplasm;HP:0100833|Neoplasm of the small intestine;HP:0002027|Abdominal pain;HP:0000366|Abnormality of the nose;HP:0002035|Rectal prolapse;HP:0005214|Intestinal obstruction;HP:0002672|Gastrointestinal carcinoma;HP:0100526|Neoplasm of the lung;HP:0005584|Renal cell carcinoma;HP:0030079|Cervix cancer;HP:0100669|Abnormal pigmentation of the oral mucosa;HP:0000069|Abnormality of the ureter;HP:0006725|Pancreatic adenocarcinoma;HP:0001903|Anemia;HP:0100743|Neoplasm of the rectum;HP:0002664|Neoplasm;HP:0100582|Nasal polyposis;HP:0012126|Stomach cancer;HP:0100273|Neoplasm of the colon;HP:0005264|Abnormality of the gallbladder;HP:0008675|Enlarged polycystic ovaries;HP:0100751|Esophageal neoplasm;HP:0005244|Gastrointestinal infarctions;HP:0012720|Neoplasm of the nose;HP:0100644|Melanonychia;HP:0002086|Abnormality of the respiratory system;HP:0011024|Abnormality of the gastrointestinal tract;HP:0003002|Breast carcinoma
cone rod dystrophy	HP:0001133|Depressed visual field;HP:0000505|Visual impairment;HP:0000510|Retinitis pigmentosa;HP:0000662|Poor night vision;HP:0000551|Abnormality of color vision;HP:0000613|Photophobia;HP:0007703|Abnormality of retinal pigmentation;HP:0000662|Nyctalopia
22q11.2 deletion syndrome	HP:0000028|Cryptorchidism;HP:0002023|Anal atresia;HP:0001601|Laryngomalacia;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0002960|Autoimmunity;HP:0005435|Impaired T cell function;HP:0000347|Micrognathia;HP:0000130|Abnormality of the uterus;HP:0000506|Telecanthus;HP:0002564|Malformation of the heart and great vessels;HP:0000276|Long face;HP:0000343|Long philtrum;HP:0001636|Tetralogy of Fallot;HP:0100735|Hypertensive crisis;HP:0000396|Overfolded helix;HP:0008872|Feeding difficulties in infancy;HP:0000175|Cleft palate;HP:0001660|Truncus arteriosus;HP:0001281|Tetany;HP:0001646|Abnormality of the aortic valve;HP:0002607|Bowel incontinence;HP:0000252|Microcephaly;HP:0001508|Failure to thrive;HP:0000431|Wide nasal bridge;HP:0001744|Splenomegaly;HP:0000426|Prominent nasal bridge;HP:0001369|Arthritis;HP:0001136|Retinal arteriolar tortuosity;HP:0000113|Polycystic kidney dysplasia;HP:0000716|Depression;HP:0002566|Intestinal malrotation;HP:0001252|Muscular hypotonia;HP:0000821|Hypothyroidism;HP:0000836|Hyperthyroidism;HP:0000670|Carious teeth;HP:0002239|Gastrointestinal hemorrhage;HP:0005562|Multiple renal cysts;HP:0006525|Lung segmentation defects;HP:0001051|Seborrheic dermatitis;HP:0001166|Arachnodactyly;HP:0000929|Abnormality of the skull;HP:0002999|Patellar dislocation;HP:0000508|Ptosis;HP:0001631|Atrial septal defect;HP:0000047|Hypospadias;HP:0000582|Upslanted palpebral fissure;HP:0001873|Thrombocytopenia;HP:0001762|Talipes equinovarus;HP:0000164|Abnormality of the teeth;HP:0002435|Meningocele;HP:0001256|Intellectual disability, mild;HP:0000708|Behavioral abnormality;HP:0000286|Epicanthus;HP:0001081|Cholelithiasis;HP:0000089|Renal hypoplasia;HP:0000272|Malar flattening;HP:0000648|Optic atrophy;HP:0000023|Inguinal hernia;HP:0000405|Conductive hearing impairment;HP:0001249|Intellectual disability;HP:0000322|Short philtrum;HP:0000829|Hypoparathyroidism;HP:0002721|Immunodeficiency;HP:0001872|Abnormality of thrombocytes;HP:0002357|Dysphasia;HP:0100765|Abnormality of the tonsils;HP:0000414|Bulbous nose;HP:0000238|Hydrocephalus;HP:0001561|Polyhydramnios;HP:0001263|Global developmental delay;HP:0000160|Narrow mouth;HP:0000262|Turricephaly;HP:0001061|Acne;HP:0000492|Abnormality of the eyelid;HP:0000682|Abnormality of dental enamel;HP:0001629|Ventricular septal defect;HP:0000453|Choanal atresia;HP:0002251|Aganglionic megacolon;HP:0007271|Occipital myelomeningocele;HP:0000600|Abnormality of the pharynx;HP:0012732|Anorectal anomaly;HP:0000369|Low-set ears;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0001643|Patent ductus arteriosus;HP:0000778|Hypoplasia of the thymus;HP:0011324|Multiple suture craniosynostosis;HP:0000739|Anxiety;HP:0002414|Spina bifida;HP:0000076|Vesicoureteral reflux;HP:0012303|Abnormality of the aortic arch;HP:0000494|Downslanted palpebral fissures;HP:0002020|Gastroesophageal reflux;HP:0001250|Seizures;HP:0100750|Atelectasis;HP:0002650|Scoliosis;HP:0001641|Abnormality of the pulmonary valve;HP:0000389|Chronic otitis media;HP:0007302|Bipolar affective disorder;HP:0100753|Schizophrenia;HP:0000385|Small earlobe;HP:0000765|Abnormality of the thorax;HP:0001328|Specific learning disability;HP:0002619|Varicose veins;HP:0001611|Nasal speech;HP:0002139|Arrhinencephaly;HP:0000470|Short neck;HP:0000568|Microphthalmia;HP:0011662|Tricuspid atresia;HP:0000518|Cataract;HP:0006510|Chronic obstructive pulmonary disease;HP:0002019|Constipation;HP:0002099|Asthma;HP:0002691|Platybasia;HP:0003326|Myalgia;HP:0001537|Umbilical hernia;HP:0001053|Hypopigmented skin patches;HP:0000486|Strabismus;HP:0001511|Intrauterine growth retardation;HP:0000979|Purpura;HP:0001829|Foot polydactyly;HP:0002901|Hypocalcemia;HP:0000627|Posterior embryotoxon;HP:0001999|Abnormal facial shape;HP:0007018|Attention deficit hyperactivity disorder;HP:0000717|Autism;HP:0001513|Obesity;HP:0001161|Hand polydactyly;HP:0011496|Corneal neovascularization;HP:0000501|Glaucoma
hirschsprung disease	HP:0100031|Neoplasm of the thyroid gland;HP:0005214|Intestinal obstruction;HP:0012719|Functional abnormality of the gastrointestinal tract;HP:0100806|Sepsis;HP:0200008|Intestinal polyposis;HP:0002014|Diarrhea;HP:0004322|Short stature;HP:0001531|Failure to thrive in infancy;HP:0001181|Adducted thumb;HP:0001824|Weight loss;HP:0002017|Nausea and vomiting;HP:0002019|Constipation;HP:0002027|Abdominal pain;HP:0002251|Aganglionic megacolon;HP:0000407|Sensorineural hearing impairment;HP:0001249|Intellectual disability
mody	HP:0005978|Noninsulin dependent diabetes mellitus;HP:0000855|Insulin resistance
osteopetrosis	HP:0000639|Nystagmus;HP:0004576|Sclerotic vertebral endplates;HP:0000670|Carious teeth;HP:0100734|Abnormality of vertebral epiphysis morphology;HP:0002653|Bone pain;HP:0003103|Abnormal cortical bone morphology;HP:0000365|Hearing impairment;HP:0000978|Bruising susceptibility;HP:0000929|Abnormality of the skull;HP:0005930|Abnormality of epiphysis morphology;HP:0000967|Petechiae;HP:0002716|Lymphadenopathy;HP:0005528|Bone marrow hypocellularity;HP:0001873|Thrombocytopenia;HP:0000303|Mandibular prognathia;HP:0000532|Chorioretinal abnormality;HP:0001291|Abnormality of the cranial nerves;HP:0009830|Peripheral neuropathy;HP:0000164|Abnormality of the teeth;HP:0000772|Abnormality of the ribs;HP:0005106|Abnormality of the vertebral endplates;HP:0001510|Growth delay;HP:0004618|Sandwich appearance of vertebral bodies;HP:0000925|Abnormality of the vertebral column;HP:0002754|Osteomyelitis;HP:0006335|Persistence of primary teeth;HP:0011001|Increased bone mineral density;HP:0000256|Macrocephaly;HP:0002901|Hypocalcemia;HP:0002757|Recurrent fractures;HP:0001641|Abnormality of the pulmonary valve;HP:0002758|Osteoarthritis;HP:0001945|Fever;HP:0001947|Renal tubular acidosis;HP:0011002|Osteopetrosis;HP:0002857|Genu valgum;HP:0001249|Intellectual disability;HP:0001744|Splenomegaly;HP:0001974|Leukocytosis;HP:0001363|Craniosynostosis;HP:0009106|Abnormal pelvis bone ossification;HP:0000504|Abnormality of vision;HP:0002721|Immunodeficiency;HP:0010535|Sleep apnea;HP:0000765|Abnormality of the thorax;HP:0006824|Cranial nerve paralysis;HP:0004349|Reduced bone mineral density;HP:0002148|Hypophosphatemia;HP:0000940|Abnormal diaphysis morphology
dyskeratosis congenita	HP:0002216|Premature graying of hair;HP:0001263|Global developmental delay;HP:0000670|Carious teeth;HP:0012733|Macule;HP:0008404|Nail dystrophy;HP:0000518|Cataract;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0100585|Telangiectasia of the skin;HP:0002575|Tracheoesophageal fistula;HP:0000600|Abnormality of the pharynx;HP:0200037|Skin vesicle;HP:0012732|Anorectal anomaly;HP:0002205|Recurrent respiratory infections;HP:0005528|Bone marrow hypocellularity;HP:0001873|Thrombocytopenia;HP:0005374|Cellular immunodeficiency;HP:0008661|Urethral stenosis;HP:0000704|Periodontitis;HP:0001053|Hypopigmented skin patches;HP:0002745|Oral leukoplakia;HP:0001874|Abnormality of neutrophils;HP:0000668|Hypodontia;HP:0000164|Abnormality of the teeth;HP:0200042|Skin ulcer;HP:0001511|Intrauterine growth retardation;HP:0000008|Abnormality of female internal genitalia;HP:0008066|Abnormal blistering of the skin;HP:0000982|Palmoplantar keratoderma;HP:0001903|Anemia;HP:0002024|Malabsorption;HP:0010450|Esophageal stenosis;HP:0000975|Hyperhidrosis;HP:0002664|Neoplasm;HP:0002665|Lymphoma;HP:0001399|Hepatic failure;HP:0100627|Displacement of the external urethral meatus;HP:0000327|Hypoplasia of the maxilla;HP:0002650|Scoliosis;HP:0002757|Recurrent fractures;HP:0000939|Osteoporosis;HP:0000498|Blepharitis;HP:0002514|Cerebral calcification;HP:0008070|Sparse hair;HP:0002240|Hepatomegaly;HP:0000679|Taurodontia;HP:0001744|Splenomegaly;HP:0010624|Aplastic/hypoplastic toenail;HP:0001394|Cirrhosis;HP:0001596|Alopecia;HP:0002894|Neoplasm of the pancreas;HP:0001928|Abnormality of coagulation;HP:0011364|White hair;HP:0000819|Diabetes mellitus;HP:0000499|Abnormality of the eyelashes;HP:0001034|Hypermelanotic macule;HP:0010885|Aseptic necrosis;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0001231|Abnormality of the fingernails;HP:0100670|Rough bone trabeculation;HP:0000534|Abnormality of the eyebrow;HP:0000035|Abnormality of the testis
weill-marchesani syndrome	HP:0001256|Intellectual disability, mild;HP:0001650|Aortic valve stenosis;HP:0001653|Mitral regurgitation;HP:0001083|Ectopia lentis;HP:0000518|Cataract;HP:0002564|Malformation of the heart and great vessels;HP:0004322|Short stature;HP:0000572|Visual loss;HP:0001629|Ventricular septal defect;HP:0001376|Limitation of joint mobility;HP:0001072|Thickened skin;HP:0009778|Short thumb;HP:0000501|Glaucoma;HP:0001642|Pulmonic stenosis;HP:0011003|Severe Myopia;HP:0001156|Brachydactyly syndrome
charge syndrome	HP:0000044|Hypogonadotrophic hypogonadism;HP:0000066|Labial hypoplasia;HP:0000028|Cryptorchidism;HP:0000160|Narrow mouth;HP:0000639|Nystagmus;HP:0100736|Abnormality of the soft palate;HP:0010978|Abnormality of immune system physiology;HP:0000568|Microphthalmia;HP:0002553|Highly arched eyebrow;HP:0010751|Chin dimple;HP:0001601|Laryngomalacia;HP:0000722|Obsessive-compulsive behavior;HP:0000365|Hearing impairment;HP:0000453|Choanal atresia;HP:0001360|Holoprosencephaly;HP:0002575|Tracheoesophageal fistula;HP:0000625|Cleft eyelid;HP:0010628|Facial palsy;HP:0005280|Depressed nasal bridge;HP:0000508|Ptosis;HP:0008736|Hypoplasia of penis;HP:0001156|Brachydactyly syndrome;HP:0002937|Hemivertebrae;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0000126|Hydronephrosis;HP:0002564|Malformation of the heart and great vessels;HP:0000486|Strabismus;HP:0010443|Bifid femur;HP:0000316|Hypertelorism;HP:0000204|Cleft upper lip;HP:0001643|Patent ductus arteriosus;HP:0000359|Abnormality of the inner ear;HP:0000684|Delayed eruption of teeth;HP:0001636|Tetralogy of Fallot;HP:0001511|Intrauterine growth retardation;HP:0000772|Abnormality of the ribs;HP:0009906|Aplasia/Hypoplasia of the earlobes;HP:0000008|Abnormality of female internal genitalia;HP:0004348|Abnormality of bone mineral density;HP:0011611|Interrupted aortic arch;HP:0000384|Preauricular skin tag;HP:0000048|Bifid scrotum;HP:0000396|Overfolded helix;HP:0000076|Vesicoureteral reflux;HP:0000478|Abnormality of the eye;HP:0000612|Iris coloboma;HP:0000632|Lacrimation abnormality;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0000324|Facial asymmetry;HP:0000834|Abnormality of the adrenal glands;HP:0002020|Gastroesophageal reflux;HP:0002093|Respiratory insufficiency;HP:0001646|Abnormality of the aortic valve;HP:0005113|Dilatation of the aortic arch;HP:0000275|Narrow face;HP:0000252|Microcephaly;HP:0000458|Anosmia;HP:0000528|Anophthalmia;HP:0002650|Scoliosis;HP:0002992|Abnormality of the tibia;HP:0007018|Attention deficit hyperactivity disorder;HP:0000648|Optic atrophy;HP:0004209|Clinodactyly of the 5th finger;HP:0000830|Anterior hypopituitarism;HP:0000085|Horseshoe kidney;HP:0001249|Intellectual disability;HP:0001305|Dandy-Walker malformation;HP:0000717|Autism;HP:0001883|Talipes;HP:0000567|Chorioretinal coloboma;HP:0000504|Abnormality of vision;HP:0002410|Aqueductal stenosis;HP:0000368|Low-set, posteriorly rotated ears;HP:0006824|Cranial nerve paralysis;HP:0001252|Muscular hypotonia;HP:0008551|Microtia;HP:0008572|External ear malformation;HP:0001671|Abnormality of the cardiac septa;HP:0008872|Feeding difficulties in infancy;HP:0010669|Cheekbone underdevelopment;HP:0001561|Polyhydramnios
alkaptonuria	HP:0001507|Abnormal growth;HP:0000787|Nephrolithiasis;HP:0000598|Ear anomaly;HP:0001654|Abnormality of the heart valves;HP:0002948|Fusion of vertebral bodies;HP:0000592|Blue sclerae;HP:0001000|Abnormality of skin pigmentation;HP:0001373|Joint dislocation;HP:0000366|Abnormality of the nose;HP:0001724|Aortic dilatation;HP:0002829|Arthralgia;HP:0001939|Laboratory abnormality;HP:0001717|Coronary artery calcification;HP:0002808|Gibbus deformity;HP:0100593|Calcification of cartilage;HP:0000822|Hypertension;HP:0004380|Aortic valve calcification;HP:0008419|Degeneration of intervertebral disks;HP:0000478|Abnormality of the eye;HP:0003418|Back pain;HP:0001658|Myocardial infarction;HP:0007400|Irregular hyperpigmentation;HP:0001386|Joint swelling;HP:0004690|Thickened Achilles tendon;HP:0002621|Atherosclerosis;HP:0003355|Aminoaciduria;HP:0005645|Intervertebral disk calcification;HP:0100550|Tendon rupture;HP:0002758|Osteoarthritis;HP:0100773|Cartilage destruction;HP:0007832|Pigmentation of the sclera;HP:0003040|Arthropathy;HP:0001597|Abnormality of the nail;HP:0000504|Abnormality of vision;HP:0000079|Urinary tract anomalies;HP:0001369|Arthritis;HP:0001387|Joint stiffness;HP:0000364|Hearing abnormality;HP:0000024|Prostatitis;HP:0004349|Reduced bone mineral density;HP:0002829|Arthralgias;HP:0004382|Mitral valve calcification
cyclic neutropenia	HP:0000670|Carious teeth;HP:0002716|Lymphadenopathy;HP:0011107|Recurrent aphthous stomatitis;HP:0000153|Abnormal mouth;HP:0001873|Thrombocytopenia;HP:0012378|Fatigue;HP:0000704|Periodontitis;HP:0001845|Overlapping toe;HP:0001903|Anemia;HP:0000155|Oral ulcer;HP:0002027|Abdominal pain;HP:0001945|Fever;HP:0001875|Neutropenia;HP:0100806|Sepsis;HP:0001879|Abnormality of eosinophils;HP:0001581|Recurrent skin infections;HP:0002205|Recurrent respiratory infections
prolactinoma	HP:0000044|Hypogonadotrophic hypogonadism;HP:0002920|Decreased circulating ACTH level;HP:0002013|Vomiting;HP:0100639|Erectile abnormalities;HP:0011748|Adrenocorticotropic hormone deficiency;HP:0012378|Fatigue;HP:0007942|Internal ophthalmoplegia;HP:0000845|Growth hormone excess;HP:0001117|Sudden loss of visual acuity;HP:0000508|Ptosis;HP:0000135|Hypogonadism;HP:0000618|Blindness;HP:0030521|Bitemporal hemianopia;HP:0002615|Hypotension;HP:0000134|Female hypogonadism;HP:0002017|Nausea and vomiting;HP:0006897|Cranial nerve VI palsy;HP:0003335|Low gonadotropins (secondary hypogonadism);HP:0000140|Abnormality of the menstrual cycle;HP:0000858|Menstrual irregularities;HP:0007011|Fourth cranial nerve palsy;HP:0012246|Oculomotor nerve palsy;HP:0001250|Seizures;HP:0000771|Gynecomastia;HP:0011357|Abnormality of hair density;HP:0000026|Male hypogonadism;HP:0100829|Galactorrhea;HP:0011735|Adrenocorticotropin deficient adrenal insufficiency;HP:0003388|Easy fatigability;HP:0000868|Decreased fertility in females;HP:0000938|Osteopenia;HP:0000939|Osteoporosis;HP:0030016|Dyspareunia;HP:0030517|Heteronymous hemianopia;HP:0000823|Delayed puberty;HP:0000651|Diplopia;HP:0000529|Progressive visual loss;HP:0000830|Anterior hypopituitarism;HP:0000802|Impotence;HP:0012377|Hemianopsia;HP:0000141|Amenorrhea;HP:0002321|Vertigo;HP:0030018|Decreased female libido;HP:0012503|Abnormality of the pituitary gland;HP:0006767|Prolactin-secreting pituitary adenoma;HP:0006824|Cranial nerve paralysis;HP:0012041|Decreased fertility in males;HP:0000980|Pallor;HP:0002315|Headache;HP:0008240|Secondary growth hormone deficiency;HP:0008245|Pituitary hypothyroidism;HP:0011734|Central adrenal insufficiency
nijmegen breakage syndrome	HP:0010620|Malar prominence;HP:0006532|Pneumonia, recurrent episodes;HP:0000470|Short neck;HP:0000492|Abnormality of the eyelid;HP:0002023|Anal atresia;HP:0002110|Bronchiectasis;HP:0001480|Freckling;HP:0004322|Short stature;HP:0000347|Hypoplasia of mandible;HP:0001268|Mental deterioration;HP:0001890|Autoimmune hemolytic anemia;HP:0006532|Recurrent pneumonia;HP:0000453|Blockage of the rear opening of the nasal cavity;HP:0005280|Depressed nasal bridge;HP:0100515|Pollakisuria;HP:0003189|Elongated nose;HP:0012732|Anorectal anomaly;HP:0000957|Cafe-au-lait macules;HP:0002205|Recurrent respiratory infections;HP:0005403|Decreased numbers of circulating T cells;HP:0002269|Abnormality of neuronal migration;HP:0005602|Progressive vitiligo;HP:0004322|Stature below 3rd percentile;HP:0000582|Upslanted palpebral fissure;HP:0001873|Thrombocytopenia;HP:0003011|Abnormality of the musculature;HP:0002885|Medulloblastoma;HP:0000126|Hydronephrosis;HP:0002014|Diarrhea;HP:0012191|B-cell lymphoma;HP:0002837|Recurrent bronchitis;HP:0000204|Cleft upper lip;HP:0002028|Chronic diarrhea;HP:0010976|B lymphocytopenia;HP:0000175|Palatoschisis;HP:0003202|Skeletal muscle atrophy;HP:0003220|Abnormality of chromosome stability;HP:0001249|Mental retardation;HP:0000010|Frequent urinary tract infections;HP:0000271|Abnormality of the face;HP:0000265|Mastoiditis;HP:0001878|Hemolytic anemia;HP:0002025|Anal stenosis;HP:0100335|Non-midline cleft lip;HP:0000388|Otitis media;HP:0000252|Small head circumference;HP:0000175|Cleft palate;HP:0002664|Neoplasm;HP:0002665|Lymphoma;HP:0008209|Premature ovarian failure;HP:0000400|Large ears;HP:0002859|Rhabdomyosarcoma;HP:0000252|Microcephaly;HP:0000294|Low anterior hairline;HP:0012190|T-cell lymphoma;HP:0000582|Upward slanting of palpebral fissures;HP:0004798|Recurrent infection of the gastrointestinal tract;HP:0002025|Narrowing of anal opening;HP:0009733|Glioma;HP:0002180|Neurodegeneration;HP:0000448|Prominent nose;HP:0007018|Attention deficit hyperactivity disorder;HP:0000340|Receding forehead;HP:0001873|Low platelet count;HP:0001511|Prenatal onset growth retardation;HP:0001595|Abnormality of the hair;HP:0000278|Retrognathia;HP:0004326|Cachexia;HP:0000426|Prominent nasal bridge;HP:0000246|Sinus inflammation;HP:0011362|Abnormal hair quantity;HP:0001324|Muscle weakness;HP:0000992|Cutaneous photosensitivity;HP:0002878|Respiratory failure;HP:0000364|Hearing abnormality;HP:0000444|Convex nasal ridge;HP:0002488|Acute leukemia;HP:0005425|Recurrent sinopulmonary infections;HP:0000400|Macrotia;HP:0000340|Sloping forehead;HP:0002002|Deep philtrum;HP:0000752|Hyperactive behavior;HP:0002961|Dysgammaglobulinemia
amyloidosis	HP:0000071|Ureteral stenosis;HP:0002715|Abnormality of the immune system;HP:0001269|Hemiparesis;HP:0010628|Facial palsy;HP:0012718|Morphological abnormality of the gastrointestinal tract;HP:0000232|Everted lower lip vermilion;HP:0000083|Renal insufficiency;HP:0100820|Glomerulopathy;HP:0001762|Talipes equinovarus;HP:0200115|Scalp hair loss;HP:0000478|Abnormality of the eye;HP:0000962|Hyperkeratosis;HP:0001131|Corneal dystrophy;HP:0000023|Inguinal hernia;HP:0001626|Abnormality of the cardiovascular system;HP:0000411|Protruding ear;HP:0000504|Abnormality of vision;HP:0001582|Redundant skin;HP:0000100|Nephrotic syndrome;HP:0007328|Impaired pain sensation;HP:0012639|Abnormality of nervous system morphology;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0007440|Generalized hyperpigmentation;HP:0100540|Palpebral edema
hereditary hemorrhagic telangiectasia	HP:0100026|Arteriovenous malformation;HP:0002239|Gastrointestinal hemorrhage;HP:0000787|Nephrolithiasis;HP:0200008|Intestinal polyposis;HP:0000646|Amblyopia;HP:0001048|Cavernous hemangioma;HP:0100585|Telangiectasia of the skin;HP:0100659|Abnormality of the cerebral vasculature;HP:0100579|Mucosal telangiectasiae;HP:0001635|Congestive heart failure;HP:0002204|Pulmonary embolism;HP:0001409|Portal hypertension;HP:0011025|Abnormality of cardiovascular system physiology;HP:0100784|Peripheral arteriovenous fistula;HP:0002138|Subarachnoid hemorrhage;HP:0000790|Hematuria;HP:0002105|Hemoptysis;HP:0001250|Seizures;HP:0000524|Conjunctival telangiectasia;HP:0001081|Cholelithiasis;HP:0001399|Hepatic failure;HP:0007420|Spontaneous hematomas;HP:0004936|Venous thrombosis;HP:0007763|Retinal telangiectasia;HP:0100761|Visceral angiomatosis;HP:0001082|Cholecystitis;HP:0002076|Migraine;HP:0002040|Esophageal varix;HP:0000421|Epistaxis;HP:0001394|Cirrhosis;HP:0002326|Transient ischemic attack;HP:0002092|Pulmonary arterial hypertension;HP:0001342|Cerebral hemorrhage;HP:0001935|Microcytic anemia
abetalipoproteinemia	HP:0001251|Ataxia;HP:0000505|Visual impairment;HP:0100022|Abnormality of movement;HP:0001252|Muscular hypotonia;HP:0001315|Reduced tendon reflexes;HP:0007703|Abnormality of retinal pigmentation;HP:0002024|Malabsorption
familial mediterranean fever	HP:0100796|Orchitis;HP:0002240|Enlarged liver;HP:0001733|Pancreatitis;HP:0002027|Abdominal pain;HP:0002019|Constipation;HP:0001287|Meningitis;HP:0000093|Proteinuria;HP:0002586|Peritonitis;HP:0000083|Renal insufficiency;HP:0005214|Intestinal obstruction;HP:0001055|Erysipelas;HP:0002102|Pleuritis;HP:0002716|Lymphadenopathy;HP:0002829|Arthralgia;HP:0003326|Myalgia;HP:0003565|Elevated erythrocyte sedimentation rate;HP:0006554|Acute hepatic failure;HP:0010783|Erythema;HP:0001917|Renal amyloidosis;HP:0002014|Diarrhea;HP:0002745|Oral leukoplakia;HP:0000112|Nephropathy;HP:0002017|Nausea and vomiting;HP:0000100|Nephrosis;HP:0001541|Ascites;HP:0002024|Malabsorption;HP:0001250|Seizures;HP:0002633|Vasculitis;HP:0010741|Edema of the lower limbs;HP:0001658|Myocardial infarction;HP:0000121|Nephrocalcinosis;HP:0011675|Arrhythmia;HP:0002758|Osteoarthritis;HP:0001945|Fever;HP:0003565|Elevated sedimentation rate;HP:0001701|Pericarditis;HP:0000988|Skin rash;HP:0001974|Leukocytosis;HP:0001744|Splenomegaly;HP:0005244|Gastrointestinal infarctions;HP:0001369|Arthritis;HP:0100749|Chest pain;HP:0000100|Nephrotic syndrome;HP:0001954|Increased body temperature, episodic;HP:0002829|Arthralgias
fragile x syndrome	HP:0002050|Macroorchidism, postpubertal;HP:0000767|Funnel chest;HP:0002003|Large forehead;HP:0100716|Self-injurious behavior;HP:0000246|Sinusitis;HP:0000256|Macrocrania;HP:0007165|Subependymal neuronal heterotopia;HP:0002342|Intellectual disability, moderate;HP:0000303|Mandibular prognathia;HP:0002007|Frontal bossing;HP:0000276|Long face;HP:0003564|Folate-dependent fragile site at Xq28;HP:0000486|Strabismus;HP:0002167|Neurological speech impairment;HP:0002120|Cerebral cortical atrophy;HP:0000739|Anxiety;HP:0002020|Gastroesophageal reflux;HP:0001250|Seizures;HP:0000388|Otitis media;HP:0000256|Macrocephaly;HP:0000400|Large ears;HP:0001388|Joint laxity;HP:0002650|Scoliosis;HP:0000275|Narrow face;HP:0000389|Chronic otitis media;HP:0007018|Attention deficit hyperactivity disorder;HP:0000717|Autism;HP:0000303|Increased size of lower jaw;HP:0000053|Macroorchidism;HP:0000411|Protruding ear;HP:0001634|Mitral valve prolapse;HP:0002457|Abnormal head movements;HP:0001763|Pes planus;HP:0000280|Coarse facial features;HP:0000817|Poor eye contact;HP:0001252|Muscular hypotonia;HP:0008640|Congenital macroorchidism;HP:0005111|Dilatation of the ascending aorta;HP:0000752|Hyperactive behavior
cholangiocarcinoma	HP:0100574|Biliary tract neoplasm;HP:0012378|Fatigue;HP:0002027|Abdominal pain;HP:0000989|Pruritus;HP:0001945|Fever;HP:0000952|Jaundice;HP:0011985|Acholic stools;HP:0002039|Anorexia
fabry disease	HP:0011710|Bundle branch block;HP:0002571|Achalasia;HP:0002094|Dyspnea;HP:0000518|Cataract;HP:0012378|Fatigue;HP:0100543|Cognitive impairment;HP:0004322|Short stature;HP:0000873|Diabetes insipidus;HP:0006510|Chronic obstructive pulmonary disease;HP:0000365|Hearing impairment;HP:0001482|Subcutaneous nodule;HP:0002027|Abdominal pain;HP:0100585|Telangiectasia of the skin;HP:0002376|Developmental regression;HP:0100579|Mucosal telangiectasiae;HP:0001004|Lymphedema;HP:0000093|Proteinuria;HP:0000083|Renal insufficiency;HP:0001635|Congestive heart failure;HP:0001637|Abnormality of the myocardium;HP:0002829|Arthralgia;HP:0100820|Glomerulopathy;HP:0001653|Mitral regurgitation;HP:0003326|Myalgia;HP:0004306|Abnormality of the endocardium;HP:0002097|Emphysema;HP:0003119|Abnormality of lipid metabolism;HP:0000822|Hypertension;HP:0000112|Nephropathy;HP:0002017|Nausea and vomiting;HP:0001639|Hypertrophic cardiomyopathy;HP:0000790|Hematuria;HP:0000407|Sensorineural hearing impairment;HP:0002823|Abnormality of the femur;HP:0000739|Anxiety;HP:0001903|Anemia;HP:0002024|Malabsorption;HP:0001681|Angina pectoris;HP:0000708|Behavioral abnormality;HP:0000962|Hyperkeratosis;HP:0001250|Seizures;HP:0000524|Conjunctival telangiectasia;HP:0007957|Corneal opacity;HP:0002093|Respiratory insufficiency;HP:0001646|Abnormality of the aortic valve;HP:0001712|Left ventricular hypertrophy;HP:0000966|Hypohidrosis;HP:0011675|Arrhythmia;HP:0001131|Corneal dystrophy;HP:0003077|Hyperlipidemia;HP:0001945|Fever;HP:0000648|Optic atrophy;HP:0000823|Delayed puberty;HP:0000179|Thick lower lip vermilion;HP:0002321|Vertigo;HP:0001369|Arthritis;HP:0002326|Transient ischemic attack;HP:0000100|Nephrotic syndrome;HP:0000716|Depression;HP:0001678|Atrioventricular block;HP:0000280|Coarse facial features;HP:0001014|Angiokeratoma;HP:0004349|Reduced bone mineral density;HP:0002039|Anorexia;HP:0000091|Abnormality of the renal tubule
autoimmune thyroiditis	HP:0030057|Autoimmune antibody positivity;HP:0000872|Hashimoto's thyroiditis
bullous pemphigoid	HP:0010783|Erythema;HP:0001025|Urticaria;HP:0012733|Macule;HP:0008066|Abnormal blistering of the skin;HP:0000819|Diabetes mellitus;HP:0002960|Autoimmunity;HP:0003765|Psoriasis;HP:0001824|Weight loss;HP:0000964|Eczema;HP:0002719|Recurrent infections
hyperkalemic periodic paralysis	HP:0100021|Cerebral palsy;HP:0003752|Episodic flaccid weakness;HP:0003198|Myopathy;HP:0001635|Congestive heart failure;HP:0003401|Paresthesia;HP:0001371|Flexion contracture;HP:0003326|Myalgia;HP:0002380|Fasciculations;HP:0007215|Periodic hyperkalemic paralysis;HP:0003236|Elevated serum creatine phosphokinase;HP:0003712|Skeletal muscle hypertrophy;HP:0002902|Hyponatremia;HP:0001522|Death in infancy;HP:0001315|Reduced tendon reflexes;HP:0001276|Hypertonia;HP:0008872|Feeding difficulties in infancy;HP:0001288|Gait disturbance;HP:0002093|Respiratory insufficiency;HP:0002607|Bowel incontinence;HP:0002900|Hypokalemia;HP:0003457|EMG abnormality;HP:0011675|Arrhythmia;HP:0002153|Hyperkalemia;HP:0002486|Myotonia;HP:0000597|Ophthalmoparesis;HP:0002047|Malignant hyperthermia;HP:0100749|Chest pain;HP:0100613|Death in early adulthood;HP:0003202|Skeletal muscle atrophy
kabuki syndrome	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0003316|Butterfly vertebrae;HP:0007655|Eversion of lateral third of lower eyelids;HP:0009237|Short 5th finger;HP:0010978|Abnormality of immune system physiology;HP:0002553|Highly arched eyebrow;HP:0000826|Precocious puberty;HP:0004322|Short stature;HP:0002119|Ventriculomegaly;HP:0000592|Blue sclerae;HP:0000776|Congenital diaphragmatic hernia;HP:0000527|Long eyelashes;HP:0000218|High palate;HP:0005338|Sparse lateral eyebrow;HP:0007477|Abnormal dermatoglyphics;HP:0000508|Ptosis;HP:0000074|Ureteropelvic junction obstruction;HP:0008736|Hypoplasia of penis;HP:0002937|Hemivertebrae;HP:0000047|Hypospadias;HP:0008678|Renal hypoplasia/aplasia;HP:0000126|Hydronephrosis;HP:0001680|Coarctation of aorta;HP:0000486|Strabismus;HP:0006482|Abnormality of dental morphology;HP:0005692|Joint hyperflexibility;HP:0000668|Hypodontia;HP:0000081|Duplicated collecting system;HP:0000164|Abnormality of the teeth;HP:0002120|Cerebral cortical atrophy;HP:0004736|Crossed fused renal ectopia;HP:0000407|Sensorineural hearing impairment;HP:0002719|Recurrent infections;HP:0000384|Preauricular skin tag;HP:0002000|Short columella;HP:0011968|Feeding difficulties;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0000175|Cleft palate;HP:0000589|Coloboma;HP:0003312|Abnormal form of the vertebral bodies;HP:0000298|Mask-like facies;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0005819|Short middle phalanx of finger;HP:0001508|Failure to thrive;HP:0100267|Lip pit;HP:0200055|Small hand;HP:0000405|Conductive hearing impairment;HP:0000202|Oral cleft;HP:0000411|Protruding ear;HP:0000691|Microdontia;HP:0001513|Obesity;HP:0100542|Abnormal localization of kidney;HP:0002827|Hip dislocation;HP:0000400|Macrotia;HP:0000687|Widely spaced teeth;HP:0001252|Muscular hypotonia;HP:0000238|Hydrocephalus;HP:0001671|Abnormality of the cardiac septa;HP:0008428|Vertebral clefting;HP:0000482|Microcornea
dubin-johnson syndrome	HP:0000952|Yellow skin;HP:0012086|Abnormal urinary color;HP:0001928|Abnormality of coagulation;HP:0012378|Fatigue;HP:0002027|Abdominal pain;HP:0001080|Biliary tract abnormality;HP:0002908|Conjugated hyperbilirubinemia;HP:0001392|Abnormality of the liver;HP:0001945|Fever;HP:0000952|Jaundice;HP:0002240|Hepatomegaly;HP:0004295|Abnormality of the gastric mucosa
alpha-thalassemia	HP:0001744|Splenomegaly;HP:0004840|Hypochromic microcytic anemia;HP:0001081|Cholelithiasis;HP:0010978|Abnormality of immune system physiology;HP:0001935|Microcytic anemia;HP:0100543|Cognitive impairment;HP:0002863|Myelodysplasia;HP:0011902|Abnormal hemoglobin;HP:0000952|Jaundice;HP:0001971|Hypersplenism;HP:0011907|Reduced alpha/beta synthesis ratio;HP:0001903|Anemia;HP:0001878|Hemolytic anemia;HP:0001789|Hydrops fetalis
autosomal recessive polycystic kidney disease	HP:0005562|Multiple renal cysts;HP:0002240|Enlarged liver;HP:0002089|Hypoplastic lungs;HP:0000105|Renal enlargement;HP:0001562|Oligohydramnios;HP:0000083|Renal insufficiency;HP:0008678|Renal hypoplasia/aplasia;HP:0000347|Micrognathia;HP:0001409|Portal hypertension;HP:0000107|Renal cyst;HP:0001944|Dehydration;HP:0001737|Pancreatic cysts;HP:0005564|Loss of corticomedullary differentiation;HP:0002612|Congenital hepatic fibrosis;HP:0000457|Depressed nasal ridge;HP:0002093|Respiratory insufficiency;HP:0002009|Potter facies;HP:0001080|Biliary tract abnormality;HP:0100720|Hypoplasia of the ear cartilage;HP:0002040|Esophageal varix;HP:0001405|Periportal fibrosis;HP:0001407|Hepatic cysts;HP:0001744|Splenomegaly;HP:0005576|Renal interstitial fibrosis;HP:0000113|Polycystic kidney dysplasia;HP:0000400|Macrotia;HP:0000368|Low-set, posteriorly rotated ears
wagr syndrome	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0000347|Micrognathia;HP:0001513|Obesity;HP:0000505|Visual impairment;HP:0000518|Cataract;HP:0100627|Displacement of the external urethral meatus;HP:0004322|Short stature;HP:0000364|Hearing abnormality;HP:0000252|Microcephaly;HP:0002650|Scoliosis;HP:0008053|Aplasia/Hypoplasia of the iris;HP:0007299|Dysfunction of lateral corticospinal tracts;HP:0000062|Ambiguous genitalia;HP:0000501|Glaucoma;HP:0000232|Everted lower lip vermilion;HP:0000508|Ptosis;HP:0001249|Intellectual disability
kallmann syndrome	HP:0000044|Hypogonadotrophic hypogonadism;HP:0000028|Cryptorchidism;HP:0000639|Nystagmus;HP:0000786|Primary amenorrhea;HP:0100639|Erectile abnormalities;HP:0004409|Hyposmia;HP:0008734|Decreased testicular size;HP:0000508|Ptosis;HP:0001260|Dysarthria;HP:0008736|Hypoplasia of penis;HP:0010550|Paraplegia;HP:0001251|Ataxia;HP:0002652|Skeletal dysplasia;HP:0002564|Malformation of the heart and great vessels;HP:0000104|Renal agenesis;HP:0009804|Reduced number of teeth;HP:0000407|Sensorineural hearing impairment;HP:0000008|Abnormality of female internal genitalia;HP:0001250|Seizures;HP:0000175|Cleft palate;HP:0000771|Gynecomastia;HP:0001288|Gait disturbance;HP:0003187|Breast hypoplasia;HP:0001608|Abnormality of the voice;HP:0000458|Anosmia;HP:0000551|Abnormality of color vision;HP:0002757|Recurrent fractures;HP:0030016|Dyspareunia;HP:0000823|Delayed puberty;HP:0000830|Anterior hypopituitarism;HP:0001761|Pes cavus;HP:0001513|Obesity;HP:0000505|Visual impairment;HP:0003164|Hypothalamic gonadotropin-releasing hormone (GNRH) deficiency;HP:0001324|Muscle weakness;HP:0001337|Tremor;HP:0002750|Delayed skeletal maturation;HP:0001763|Pes planus;HP:0001252|Muscular hypotonia;HP:0000054|Micropenis;HP:0004349|Reduced bone mineral density;HP:0000144|Decreased fertility;HP:0001335|Bimanual synkinesia;HP:0008064|Ichthyosis
norrie disease	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0004327|Abnormality of the vitreous humor;HP:0011039|Abnormality of the helix;HP:0100716|Self-injurious behavior;HP:0010978|Abnormality of immune system physiology;HP:0000568|Microphthalmia;HP:0000615|Abnormality of the pupil;HP:0000518|Cataract;HP:0000647|Sclerocornea;HP:0008063|Aplasia/Hypoplasia of the lens;HP:0008046|Abnormality of the retinal vasculature;HP:0000541|Retinal detachment;HP:0100639|Erectile abnormalities;HP:0100742|Vascular neoplasm;HP:0006887|Intellectual disability, progressive;HP:0000601|Hypotelorism;HP:0002376|Developmental regression;HP:0000233|Thin vermilion border;HP:0007676|Hypoplasia of the iris;HP:0007833|Anterior chamber synechiae;HP:0000490|Deeply set eye;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0000618|Blindness;HP:0000532|Chorioretinal abnormality;HP:0000733|Stereotypy;HP:0002120|Cerebral cortical atrophy;HP:0000407|Sensorineural hearing impairment;HP:0000739|Anxiety;HP:0001276|Hypertonia;HP:0002353|EEG abnormality;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0100718|Uterine rupture;HP:0007957|Corneal opacity;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0002169|Clonus;HP:0005293|Venous insufficiency;HP:0007968|Persistent hyperplastic primary vitreous;HP:0000709|Psychosis;HP:0010662|Abnormality of the diencephalon;HP:0001508|Failure to thrive;HP:0000272|Malar flattening;HP:0000648|Optic atrophy;HP:0000823|Delayed puberty;HP:0000375|Abnormality of cochlea;HP:0002076|Migraine;HP:0007018|Attention deficit hyperactivity disorder;HP:0002360|Sleep disturbance;HP:0000717|Autism;HP:0004326|Cachexia;HP:0000411|Protruding ear;HP:0100012|Neoplasm of the eye;HP:0001083|Ectopia lentis;HP:0001324|Muscle weakness;HP:0001347|Hyperreflexia;HP:0000819|Diabetes mellitus;HP:0000738|Hallucinations;HP:0000400|Macrotia;HP:0000737|Irritability;HP:0001252|Muscular hypotonia;HP:0000446|Narrow nasal bridge;HP:0000501|Glaucoma
autoimmune lymphoproliferative syndrome	HP:0001973|Autoimmune thrombocytopenia;HP:0002240|Enlarged liver;HP:0001891|Iron-deficiency anemia;HP:0003453|Antineutrophil antibodies;HP:0001904|Autoimmune neutropenia;HP:0001890|Autoimmune hemolytic anemia;HP:0003261|Elevated IgA;HP:0002845|Increased number of peripheral CD3+ T cells;HP:0003613|Antiphospholipid antibodies;HP:0003454|Platelet antibody;HP:0002923|Rheumatoid factor positive;HP:0002729|Follicular hyperplasia;HP:0002851|Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors;HP:0002972|Decreased reactivity to skin test antigens;HP:0002853|Increased proportion of HLA DR+ and CD57+ T cells;HP:0002731|Defective lymphocyte apoptosis;HP:0002633|Vasculitis;HP:0003262|Smooth muscle antibody positivity;HP:0001025|Hives;HP:0002730|Chronic noninfectious lymphadenopathy;HP:0001744|Splenomegaly;HP:0003237|Increased IgG level;HP:0003496|Increased levels of IgM;HP:0004844|Coombs-positive hemolytic anemia;HP:0003493|Elevated antinuclear antibody;HP:0001880|Eosinophilia
metachromatic leukodystrophy	HP:0000639|Nystagmus;HP:0100576|Amaurosis fugax;HP:0002251|Aganglionic megacolon;HP:0002376|Developmental regression;HP:0001257|Spasticity;HP:0001251|Ataxia;HP:0003011|Abnormality of the musculature;HP:0002167|Neurological speech impairment;HP:0009830|Peripheral neuropathy;HP:0001315|Reduced tendon reflexes;HP:0002816|Genu recurvatum;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0001288|Gait disturbance;HP:0001259|Coma;HP:0000648|Optic atrophy;HP:0000762|Decreased nerve conduction velocity;HP:0001249|Intellectual disability;HP:0001324|Muscle weakness;HP:0001347|Hyperreflexia;HP:0001387|Joint stiffness;HP:0001252|Muscular hypotonia
allergic bronchopulmonary aspergillosis	HP:0002093|Respiratory insufficiency;HP:0002105|Hemoptysis;HP:0002110|Bronchiectasis;HP:0002097|Emphysema;HP:0011134|Low-grade fever;HP:0012735|Cough;HP:0002715|Abnormality of the immune system;HP:0001824|Weight loss;HP:0002109|Abnormality of the bronchi;HP:0002120|Cerebral cortical atrophy;HP:0002092|Pulmonary arterial hypertension;HP:0001231|Abnormality of the fingernails;HP:0002099|Asthma;HP:0001879|Abnormality of eosinophils
mantle cell lymphoma	HP:0002716|Lymphadenopathy;HP:0001744|Splenomegaly;HP:0005561|Abnormality of bone marrow cell morphology;HP:0012378|Fatigue;HP:0012191|B-cell lymphoma;HP:0001824|Weight loss;HP:0001945|Fever;HP:0011024|Abnormality of the gastrointestinal tract;HP:0002039|Anorexia
von willebrand disease	HP:0001633|Abnormality of the mitral valve;HP:0001928|Abnormality of coagulation;HP:0001872|Abnormality of thrombocytes;HP:0005293|Venous insufficiency;HP:0004097|Deviation of finger;HP:0011869|Abnormal platelet function
central diabetes insipidus	HP:0000938|Decreased bone mineral density;HP:0000445|Broad nose;HP:0003196|Short nose;HP:0000873|Diabetes insipidus;HP:0001824|Weight loss;HP:0000316|Increased distance between eye sockets;HP:0000343|Vertical hyperplasia of philtrum;HP:0001262|Excessive daytime somnolence;HP:0001939|Laboratory abnormality;HP:0000126|Hydronephrosis;HP:0001254|Lethargy;HP:0002014|Diarrhea;HP:0002902|Hyponatremia;HP:0000017|Nocturia;HP:0002017|Nausea and vomiting;HP:0001948|Alkalosis;HP:0001944|Dehydration;HP:0000863|Neurohypophyseal diabetes insipidus;HP:0000739|Anxiety;HP:0001250|Seizures;HP:0000103|Polyuria;HP:0002900|Hypokalemia;HP:0001945|Fever;HP:0001508|Failure to thrive;HP:0002171|Cerebral gliosis;HP:0001959|Polydipsia;HP:0000716|Depression;HP:0002039|Anorexia;HP:0002315|Headache
androgen insensitivity syndrome	HP:0000028|Cryptorchidism;HP:0000037|Male pseudohermaphroditism;HP:0000130|Abnormality of the uterus;HP:0000033|Ambiguous genitalia, male;HP:0010788|Testicular neoplasm;HP:0002215|Sparse axillary hair;HP:0002555|Absent pubic hair;HP:0008655|Aplasia/Hypoplasia of the fallopian tube;HP:0002221|Absent axillary hair;HP:0003251|Male infertility;HP:0000823|Delayed puberty;HP:0008684|Aplasia/hypoplasia of the uterus;HP:0000008|Abnormality of female internal genitalia;HP:0000023|Inguinal hernia;HP:0002225|Sparse pubic hair
phenylketonuria	HP:0003355|Aminoaciduria;HP:0010864|Intellectual disability, severe;HP:0002564|Malformation of the heart and great vessels
follicular lymphoma	HP:0002716|Lymphadenopathy;HP:0001744|Splenomegaly;HP:0002202|Pleural effusion;HP:0002665|Lymphoma;HP:0012378|Fatigue;HP:0100721|Mediastinal lymphadenopathy;HP:0030166|Night sweats;HP:0001824|Weight loss;HP:0001945|Fever;HP:0001287|Meningitis;HP:0002585|Abnormality of the peritoneum;HP:0200036|Skin nodule;HP:0001004|Lymphedema
multiple endocrine neoplasia type 1	HP:0004398|Peptic ulcer;HP:0000843|Hyperparathyroidism;HP:0000818|Abnormality of the endocrine system;HP:0001012|Multiple lipomas;HP:0003165|Elevated circulating parathyroid hormone level;HP:0008208|Parathyroid hyperplasia;HP:0000845|Growth hormone excess;HP:0000825|Hyperinsulinemic hypoglycemia;HP:0010615|Angiofibromas;HP:0011761|Pituitary null cell adenoma;HP:0012197|Insulinoma;HP:0010783|Erythema;HP:0100634|Neuroendocrine neoplasm;HP:0001031|Subcutaneous lipoma;HP:0030688|Increased glucagon level;HP:0002044|Zollinger-Ellison syndrome;HP:0012030|Increased urinary cortisol level;HP:0002014|Diarrhea;HP:0012334|Extrahepatic cholestasis;HP:0002574|Episodic abdominal pain;HP:0100570|Carcinoid tumor;HP:0006767|Pituitary prolactin cell adenoma;HP:0008283|Fasting hyperinsulinemia;HP:0007449|Confetti-like hypopigmented macules;HP:0008291|Pituitary corticotropic cell adenoma;HP:0008256|Adrenocortical adenoma;HP:0011760|Pituitary growth hormone cell adenoma;HP:0002893|Pituitary adenoma;HP:0100522|Thymoma;HP:0012091|Abnormality of pancreas physiology;HP:0100633|Esophagitis;HP:0001578|Hypercortisolism;HP:0030404|Glucagonoma;HP:0006744|Adrenocortical carcinoma;HP:0003072|Hypercalcemia;HP:0000854|Thyroid adenoma;HP:0002897|Parathyroid adenoma
x-linked agammaglobulinemia	HP:0012378|Fatigue;HP:0004322|Short stature;HP:0000246|Sinusitis;HP:0002960|Autoimmunity;HP:0001824|Weight loss;HP:0001287|Meningitis;HP:0006532|Recurrent pneumonia;HP:0100806|Sepsis;HP:0004432|Agammaglobulinemia;HP:0001873|Thrombocytopenia;HP:0001053|Hypopigmented skin patches;HP:0002028|Chronic diarrhea;HP:0200042|Skin ulcer;HP:0000407|Sensorineural hearing impairment;HP:0001903|Anemia;HP:0002024|Malabsorption;HP:0002088|Abnormality of lung morphology;HP:0002754|Osteomyelitis;HP:0002664|Neoplasm;HP:0002901|Hypocalcemia;HP:0100838|Recurrent cutaneous abscess formation;HP:0000162|Glossoptosis;HP:0000389|Chronic otitis media;HP:0001945|Fever;HP:0001508|Failure to thrive;HP:0100763|Abnormality of the lymphatic system;HP:0001875|Neutropenia;HP:0000988|Skin rash;HP:0100658|Cellulitis;HP:0001596|Alopecia;HP:0002721|Immunodeficiency;HP:0001369|Arthritis;HP:0100765|Abnormality of the tonsils;HP:0000509|Conjunctivitis;HP:0012115|Hepatitis
leprechaunism	HP:0000028|Cryptorchidism;HP:0000520|Proptosis;HP:0100543|Cognitive impairment;HP:0004322|Short stature;HP:0001395|Hepatic fibrosis;HP:0000474|Thickened nuchal skin fold;HP:0005280|Depressed nasal bridge;HP:0002205|Recurrent respiratory infections;HP:0010312|Asymmetry of the breasts;HP:0001537|Umbilical hernia;HP:0000316|Hypertelorism;HP:0001525|Severe failure to thrive;HP:0001943|Hypoglycemia;HP:0000040|Long penis;HP:0001511|Intrauterine growth retardation;HP:0100578|Lipoatrophy;HP:0004405|Prominent nipples;HP:0008872|Feeding difficulties in infancy;HP:0005978|Type II diabetes mellitus;HP:0000771|Gynecomastia;HP:0001396|Cholestasis;HP:0000842|Hyperinsulinemia;HP:0000252|Microcephaly;HP:0001999|Abnormal facial shape;HP:0002230|Generalized hirsutism;HP:0009928|Thick nasal alae;HP:0000023|Inguinal hernia;HP:0002705|High, narrow palate;HP:0004326|Cachexia;HP:0010458|Female pseudohermaphroditism;HP:0000179|Thick lower lip vermilion;HP:0002750|Delayed skeletal maturation;HP:0000364|Hearing abnormality;HP:0000400|Macrotia;HP:0000368|Low-set, posteriorly rotated ears;HP:0003202|Skeletal muscle atrophy
ornithine transcarbamylase deficiency	HP:0001744|Splenomegaly;HP:0001399|Hepatic failure;HP:0001987|Hyperammonemia;HP:0003355|Aminoaciduria;HP:0001943|Hypoglycemia;HP:0002021|Pyloric stenosis
pachydermoperiostosis	HP:0004398|Peptic ulcer;HP:0000938|Decreased bone mineral density;HP:0001061|Acne;HP:0000767|Funnel chest;HP:0002239|Gastrointestinal hemorrhage;HP:0001051|Seborrheic dermatitis;HP:0000239|Persistent wide fontanel;HP:0002653|Bone pain;HP:0010720|Abnormal hair pattern;HP:0100021|Cerebral palsy;HP:0003103|Abnormal cortical bone morphology;HP:0000845|Growth hormone excess;HP:0005930|Abnormality of epiphysis morphology;HP:0001519|Dolichostenomelia;HP:0100760|Clubbing of toes;HP:0001582|Loose redundant skin;HP:0001376|Limitation of joint mobility;HP:0010541|Cutis gyrata of scalp;HP:0002797|Osteolysis;HP:0000508|Ptosis;HP:0008069|Neoplasm of the skin;HP:0002829|Arthralgia;HP:0002684|Thickened calvarium;HP:0100526|Neoplasm of the lung;HP:0002970|Genu varum;HP:0009771|Acro-osteolysis;HP:0001217|Digital clubbing;HP:0000972|Thick palms and soles;HP:0000982|Palmoplantar keratoderma;HP:0001903|Anemia;HP:0002024|Malabsorption;HP:0000975|Increased sweating;HP:0002754|Osteomyelitis;HP:0000771|Gynecomastia;HP:0000975|Hyperhidrosis;HP:0000218|Increased palatal height;HP:0001643|Persistent ductus arteriosus;HP:0001386|Joint swelling;HP:0002650|Scoliosis;HP:0000939|Osteoporosis;HP:0002240|Hepatomegaly;HP:0003040|Arthropathy;HP:0200055|Small hand;HP:0001376|Decreased joint mobility;HP:0000890|Long collarbone;HP:0000976|Eczematoid dermatitis;HP:0010829|Impaired temperature sensation;HP:0001744|Splenomegaly;HP:0011362|Abnormal hair quantity;HP:0001369|Arthritis;HP:0005561|Abnormality of bone marrow cell morphology;HP:0002645|Extra bones within cranial sutures;HP:0001072|Thickened skin;HP:0000280|Coarse facial features;HP:0010885|Aseptic necrosis;HP:0000508|Drooping upper eyelid;HP:0001231|Abnormality of the fingernails;HP:0002829|Arthralgias;HP:0000969|Edema
pendred syndrome	HP:0000843|Hyperparathyroidism;HP:0002777|Tracheal stenosis;HP:0011387|Enlarged vestibular aqueduct;HP:0000853|Goitre;HP:0001251|Ataxia;HP:0001939|Laboratory abnormality;HP:0002167|Neurological speech impairment;HP:0000112|Nephropathy;HP:0000359|Abnormality of the inner ear;HP:0000407|Sensorineural hearing impairment;HP:0008554|Cochlear malformation;HP:0001249|Mental retardation;HP:0008223|Compensated hypothyroidism;HP:0008586|Hypoplasia of the cochlea;HP:0002093|Respiratory insufficiency;HP:0001751|Vestibular dysfunction;HP:0001249|Intellectual disability;HP:0002890|Thyroid carcinoma;HP:0000853|Goiter;HP:0002321|Vertigo;HP:0008527|Hearing loss, congenital sensorineural;HP:0000821|Hypothyroidism
ataxia-telangiectasia	HP:0000639|Nystagmus;HP:0002216|Premature graying of hair;HP:0000496|Abnormality of eye movement;HP:0100543|Cognitive impairment;HP:0004322|Short stature;HP:0002715|Abnormality of the immune system;HP:0100585|Telangiectasia of the skin;HP:0007495|Prematurely aged appearance;HP:0100579|Mucosal telangiectasiae;HP:0001260|Dysarthria;HP:0002205|Recurrent respiratory infections;HP:0001257|Spasticity;HP:0001251|Ataxia;HP:0005374|Cellular immunodeficiency;HP:0000486|Strabismus;HP:0002167|Neurological speech impairment;HP:0004313|Decreased antibody level in blood;HP:0001888|Lymphopenia;HP:0000147|Polycystic ovaries;HP:0003220|Abnormality of chromosome stability;HP:0001250|Seizures;HP:0005978|Type II diabetes mellitus;HP:0002664|Neoplasm;HP:0001288|Gait disturbance;HP:0005599|Hypopigmentation of hair;HP:0100022|Abnormality of movement;HP:0001508|Failure to thrive;HP:0000823|Delayed puberty;HP:0010515|Aplasia/Hypoplasia of the thymus;HP:0002910|Elevated hepatic transaminases;HP:0002721|Immunodeficiency;HP:0001337|Tremor;HP:0000819|Diabetes mellitus;HP:0007565|Multiple cafe-au-lait spots;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0003202|Skeletal muscle atrophy;HP:0000035|Abnormality of the testis
chronic inflammatory demyelinating polyneuropathy	HP:0003551|Difficulty climbing stairs;HP:0003401|Paresthesia;HP:0002317|Unsteady gait;HP:0003481|Segmental peripheral demyelination/remyelination;HP:0010871|Sensory ataxia;HP:0001284|Areflexia;HP:0009830|Peripheral neuropathy;HP:0030200|Fatiguable weakness of proximal limb muscles;HP:0040129|Abnormal nerve conduction velocity;HP:0003474|Sensory impairment;HP:0002355|Difficulty walking;HP:0002527|Falls;HP:0030237|Hand muscle weakness;HP:0010833|Spontaneous pain sensation;HP:0011096|Peripheral demyelination;HP:0000762|Decreased nerve conduction velocity;HP:0012078|Motor conduction block
sarcoidosis	HP:0002094|Dyspnea;HP:0002202|Pleural effusion;HP:0000787|Nephrolithiasis;HP:0002110|Bronchiectasis;HP:0000518|Cataract;HP:0012378|Fatigue;HP:0200035|Skin plaque;HP:0000873|Diabetes insipidus;HP:0001482|Subcutaneous nodule;HP:0001824|Weight loss;HP:0004756|Ventricular tachycardia;HP:0010628|Facial palsy;HP:0002733|Abnormality of the lymph nodes;HP:0002781|Upper airway obstruction;HP:0012243|Abnormal genital system morphology;HP:0000953|Hyperpigmentation of the skin;HP:0001880|Eosinophilia;HP:0001970|Tubulointerstitial nephritis;HP:0000083|Renal insufficiency;HP:0012219|Erythema nodosum;HP:0002716|Lymphadenopathy;HP:0001873|Thrombocytopenia;HP:0000618|Blindness;HP:0001882|Leukopenia;HP:0003011|Abnormality of the musculature;HP:0001409|Portal hypertension;HP:0000502|Abnormality of the conjunctiva;HP:0002097|Emphysema;HP:0002206|Pulmonary fibrosis;HP:0009830|Peripheral neuropathy;HP:0001010|Hypopigmentation of the skin;HP:0000620|Dacryocystitis;HP:0002105|Hemoptysis;HP:0001903|Anemia;HP:0001878|Hemolytic anemia;HP:0002088|Abnormality of lung morphology;HP:0011850|Parotitis;HP:0000834|Abnormality of the adrenal glands;HP:0010310|Chylothorax;HP:0003701|Proximal muscle weakness;HP:0000433|Abnormality of the nasal mucosa;HP:0000554|Uveitis;HP:0002150|Hypercalciuria;HP:0001399|Hepatic failure;HP:0002921|Abnormality of the cerebrospinal fluid;HP:0011801|Enlargement of parotid gland;HP:0000121|Nephrocalcinosis;HP:0001386|Joint swelling;HP:0001410|Decreased liver function;HP:0002107|Pneumothorax;HP:0011675|Arrhythmia;HP:0100828|Increase in T cell count;HP:0001945|Fever;HP:0002240|Hepatomegaly;HP:0011121|Abnormality of skin morphology;HP:0012735|Cough;HP:0002103|Abnormality of the pleura;HP:0012722|Heart block;HP:0012062|Bone cyst;HP:0003072|Hypercalcemia;HP:0030872|Abnormal cardiac ventricular function;HP:0002045|Hypothermia;HP:0001097|Keratoconjunctivitis sicca;HP:0001596|Alopecia;HP:0040186|Maculopapular exanthema;HP:0100749|Chest pain;HP:0000836|Hyperthyroidism;HP:0002922|Increased CSF protein;HP:0030146|Abnormal liver parenchyma morphology;HP:0200036|Skin nodule;HP:0011024|Abnormality of the gastrointestinal tract;HP:0000501|Glaucoma;HP:0007734|Enlarged lacrimal glands;HP:0000821|Hypothyroidism;HP:0100699|Scarring
systemic lupus erythematosus	HP:0000992|Skin photosensitivity;HP:0002102|Pleuritis;HP:0001250|Seizures;HP:0001882|Decreased blood leukocyte number;HP:0000123|Nephritis;HP:0001369|Arthritis;HP:0001878|Haemolytic anaemia;HP:0003493|Elevated antinuclear antibody;HP:0000709|Psychosis;HP:0002725|Systemic lupus erythematosus;HP:0001873|Low platelet count;HP:0001701|Pericarditis;HP:0003613|Antiphospholipid antibodies
b-cell chronic lymphocytic leukemia	HP:0005550|Chronic lymphatic leukemia
tay-sachs disease	HP:0001263|Global developmental delay;HP:0009058|Increased muscle lipid content;HP:0002421|Poor head control;HP:0002835|Aspiration;HP:0000365|Hearing impairment;HP:0002267|Exaggerated startle response;HP:0002376|Developmental regression;HP:0002205|Recurrent respiratory infections;HP:0001257|Spasticity;HP:0001251|Ataxia;HP:0000618|Blindness;HP:0002361|Psychomotor deterioration;HP:0010729|Cherry red spot of the macula;HP:0004374|Hemiplegia/hemiparesis;HP:0001252|Hypotonia;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0000256|Macrocephaly;HP:0000741|Apathy;HP:0100022|Abnormality of movement;HP:0000726|Dementia;HP:0000648|Optic atrophy;HP:0002240|Hepatomegaly;HP:0002486|Myotonia;HP:0001744|Splenomegaly;HP:0000505|Visual impairment;HP:0001347|Hyperreflexia;HP:0003495|GM2-ganglioside accumulation;HP:0010729|Macular cherry red spot;HP:0002361|Psychomotor degeneration;HP:0001252|Muscular hypotonia;HP:0006887|Intellectual disability, progressive
budd-chiari syndrome	HP:0002910|Elevated hepatic transaminases;HP:0001744|Splenomegaly;HP:0002239|Gastrointestinal hemorrhage;HP:0005244|Gastrointestinal infarctions;HP:0001394|Cirrhosis;HP:0001409|Portal hypertension;HP:0002027|Abdominal pain;HP:0002040|Esophageal varix;HP:0001824|Weight loss;HP:0001945|Fever;HP:0001082|Cholecystitis;HP:0000952|Jaundice;HP:0001541|Ascites;HP:0002240|Hepatomegaly;HP:0002586|Peritonitis;HP:0006554|Acute hepatic failure;HP:0002024|Malabsorption;HP:0005214|Intestinal obstruction
cleidocranial dysplasia	HP:0000894|Short clavicles;HP:0000670|Carious teeth;HP:0011800|Midface retrusion;HP:0001810|Dystrophic toenail;HP:0000682|Abnormality of dental enamel;HP:0000239|Large fontanelles;HP:0010751|Chin dimple;HP:0004322|Short stature;HP:0000246|Sinusitis;HP:0008821|Hypoplastic inferior ilia;HP:0000365|Hearing impairment;HP:0000248|Brachycephaly;HP:0005930|Abnormality of epiphysis morphology;HP:0002645|Wormian bones;HP:0005280|Depressed nasal bridge;HP:0000337|Broad forehead;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0001156|Brachydactyly syndrome;HP:0002205|Recurrent respiratory infections;HP:0011219|Short face;HP:0000347|Micrognathia;HP:0002652|Skeletal dysplasia;HP:0000303|Mandibular prognathia;HP:0002007|Frontal bossing;HP:0003298|Spina bifida occulta;HP:0000316|Hypertelorism;HP:0001172|Abnormality of the thumb;HP:0000164|Abnormality of the teeth;HP:0000684|Delayed eruption of teeth;HP:0000774|Narrow chest;HP:0000772|Abnormality of the ribs;HP:0004331|Decreased skull ossification;HP:0000175|Cleft palate;HP:0005107|Abnormality of the sacrum;HP:0000256|Macrocephaly;HP:0001163|Abnormality of the metacarpal bones;HP:0002650|Scoliosis;HP:0000162|Glossoptosis;HP:0000389|Chronic otitis media;HP:0000939|Osteoporosis;HP:0001182|Tapered finger;HP:0002757|Recurrent fractures;HP:0002857|Genu valgum;HP:0004209|Clinodactyly of the 5th finger;HP:0200021|Down-sloping shoulders;HP:0002705|High, narrow palate;HP:0008391|Dystrophic fingernails;HP:0002812|Coxa vara;HP:0010807|Open bite;HP:0000364|Hearing abnormality;HP:0010535|Sleep apnea;HP:0011069|Increased number of teeth;HP:0000882|Hypoplastic scapulae;HP:0010669|Cheekbone underdevelopment;HP:0000340|Sloping forehead
kaposi sarcoma	HP:0012733|Macule;HP:0200035|Skin plaque;HP:0012378|Fatigue;HP:0001824|Weight loss;HP:0001004|Lymphedema;HP:0008069|Neoplasm of the skin;HP:0001034|Hyperpigmented spots;HP:0005353|Susceptibility to herpesvirus;HP:0000479|Abnormality of the retina;HP:0005523|Lymphoproliferative disorder;HP:0002014|Diarrhea;HP:0011793|Neoplasm by anatomical site;HP:0008940|Generalized lymphadenopathy;HP:0001028|Hemangioma;HP:0002664|Neoplasia;HP:0002088|Abnormality of lung morphology;HP:0002814|Abnormality of the lower limb;HP:0005293|Venous insufficiency;HP:0001392|Abnormality of the liver;HP:0001945|Fever;HP:0000969|Dropsy;HP:0000988|Skin rash;HP:0001298|Encephalopathy;HP:0002721|Immunodeficiency;HP:0001034|Hypermelanotic macule;HP:0200036|Skin nodule;HP:0011024|Abnormality of the gastrointestinal tract;HP:0200034|Papule;HP:0001743|Abnormality of the spleen
dystrophic epidermolysis bullosa	HP:0002860|Squamous cell carcinoma;HP:0000670|Carious teeth;HP:0001297|Stroke;HP:0001810|Dystrophic toenail;HP:0001155|Abnormality of the hand;HP:0008404|Nail dystrophy;HP:0000682|Abnormality of dental enamel;HP:0000071|Ureteral stenosis;HP:0002015|Dysphagia;HP:0004378|Abnormality of the anus;HP:0000365|Hearing impairment;HP:0001770|Toe syndactyly;HP:0002019|Constipation;HP:0001644|Dilated cardiomyopathy;HP:0001741|Phimosis;HP:0100825|Cheilitis;HP:0000083|Renal insufficiency;HP:0001635|Congestive heart failure;HP:0100820|Glomerulopathy;HP:0006101|Finger syndactyly;HP:0000016|Urinary retention;HP:0001053|Hypopigmented skin patches;HP:0100326|Immunologic hypersensitivity;HP:0200020|Corneal erosion;HP:0001056|Milia;HP:0000164|Abnormality of the teeth;HP:0008066|Abnormal blistering of the skin;HP:0001903|Anemia;HP:0005830|Flexion contracture of toe;HP:0001602|Laryngeal stenosis;HP:0002664|Neoplasm;HP:0000221|Furrowed tongue;HP:0000656|Ectropion;HP:0000389|Chronic otitis media;HP:0000498|Blepharitis;HP:0001508|Failure to thrive;HP:0002043|Esophageal stricture;HP:0001760|Abnormality of the foot;HP:0008391|Dystrophic fingernails;HP:0001597|Abnormality of the nail;HP:0000579|Nasolacrimal duct obstruction;HP:0012451|Acute constipation;HP:0006530|Interstitial pulmonary disease;HP:0000100|Nephrotic syndrome;HP:0100490|Camptodactyly of finger;HP:0100758|Gangrene;HP:0000964|Eczema;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0001581|Recurrent skin infections;HP:0100699|Scarring
congenital glaucoma	HP:0000501|Glaucoma;HP:0000572|Visual loss;HP:0001052|Nevus flammeus;HP:0000541|Retinal detachment
cushing disease	HP:0001061|Acne;HP:0000132|Menorrhagia;HP:0008221|Adrenal hyperplasia;HP:0000787|Nephrolithiasis;HP:0000518|Cataract;HP:0012378|Fatigue;HP:0000978|Bruising susceptibility;HP:0002027|Abdominal pain;HP:0100585|Telangiectasia of the skin;HP:0003198|Myopathy;HP:0000572|Visual loss;HP:0000963|Thin skin;HP:0001254|Lethargy;HP:0000822|Hypertension;HP:0009125|Lipodystrophy;HP:0000739|Anxiety;HP:0002893|Pituitary adenoma;HP:0004936|Venous thrombosis;HP:0002900|Hypokalemia;HP:0002757|Recurrent fractures;HP:0100608|Metrorrhagia;HP:0100805|Precocious menopause;HP:0000939|Osteoporosis;HP:0000709|Psychosis;HP:0001508|Failure to thrive;HP:0002230|Generalized hirsutism;HP:0000311|Round face;HP:0007302|Bipolar affective disorder;HP:0002360|Sleep disturbance;HP:0001638|Cardiomyopathy;HP:0000789|Infertility;HP:0000505|Visual impairment;HP:0002721|Immunodeficiency;HP:0012203|Onychomycosis;HP:0000819|Diabetes mellitus;HP:0001956|Truncal obesity;HP:0000716|Depression;HP:0010885|Aseptic necrosis;HP:0007440|Generalized hyperpigmentation;HP:0002315|Headache;HP:0001581|Recurrent skin infections
congenital factor xi deficiency	HP:0001892|Abnormal bleeding;HP:0005261|Joint hemorrhage;HP:0000132|Menorrhagia;HP:0002239|Gastrointestinal hemorrhage;HP:0000421|Epistaxis;HP:0003645|Prolonged partial thromboplastin time;HP:0010989|Abnormality of the intrinsic pathway;HP:0006298|Prolonged bleeding after dental extraction;HP:0001929|Reduced factor XI activity
lcat deficiency	HP:0003233|Low HDL-cholesterol;HP:0002155|Increased triglycerides;HP:0001744|Splenomegaly;HP:0002716|Lymphadenopathy;HP:0007957|Corneal opacity;HP:0001878|Haemolytic anaemia;HP:0002621|Atherosclerosis;HP:0000822|Hypertension;HP:0001895|Normochromic anemia;HP:0007759|Cloudy cornea;HP:0002155|Hypertriglyceridemia;HP:0000790|Hematuria;HP:0000572|Visual loss;HP:0002240|Hepatomegaly;HP:0000093|Proteinuria;HP:0001878|Hemolytic anemia;HP:0000083|Renal insufficiency
neurofibromatosis type 1	HP:0000028|Cryptorchidism;HP:0000520|Proptosis;HP:0012733|Macule;HP:0001012|Multiple lipomas;HP:0000818|Abnormality of the endocrine system;HP:0000492|Abnormality of the eyelid;HP:0000518|Cataract;HP:0001480|Freckling;HP:0000826|Precocious puberty;HP:0004322|Short stature;HP:0000545|Myopia;HP:0000365|Hearing impairment;HP:0001482|Subcutaneous nodule;HP:0002354|Memory impairment;HP:0002858|Meningioma;HP:0008069|Neoplasm of the skin;HP:0010935|Abnormality of the upper urinary tract;HP:0100545|Arterial stenosis;HP:0000512|Abnormal electroretinogram;HP:0003401|Paresthesia;HP:0000098|Tall stature;HP:0001251|Ataxia;HP:0002652|Skeletal dysplasia;HP:0000707|Abnormality of the nervous system;HP:0002970|Genu varum;HP:0001909|Leukemia;HP:0001053|Hypopigmented skin patches;HP:0002167|Neurological speech impairment;HP:0000822|Hypertension;HP:0009732|Plexiform neurofibroma;HP:0009592|Astrocytoma;HP:0009735|Spinal neurofibromas;HP:0000478|Abnormality of the eye;HP:0001256|Intellectual disability, mild;HP:0000924|Abnormality of the skeletal system;HP:0001250|Seizures;HP:0007957|Corneal opacity;HP:0002664|Neoplasm;HP:0002666|Pheochromocytoma;HP:0009737|Lisch nodules;HP:0000256|Macrocephaly;HP:0010786|Urinary tract neoplasm;HP:0002650|Scoliosis;HP:0001100|Heterochromia iridis;HP:0002757|Recurrent fractures;HP:0003272|Abnormality of the hip bone;HP:0100242|Sarcoma;HP:0002808|Kyphosis;HP:0005506|Chronic myelogenous leukemia;HP:0007018|Attention deficit hyperactivity disorder;HP:0000823|Delayed puberty;HP:0002857|Genu valgum;HP:0007703|Abnormality of retinal pigmentation;HP:0000995|Melanocytic nevus;HP:0003100|Slender long bone;HP:0000567|Chorioretinal coloboma;HP:0000504|Abnormality of vision;HP:0000505|Visual impairment;HP:0011362|Abnormal hair quantity;HP:0001387|Joint stiffness;HP:0000364|Hearing abnormality;HP:0001328|Specific learning disability;HP:0002086|Abnormality of the respiratory system;HP:0007565|Multiple cafe-au-lait spots;HP:0007378|Neoplasm of the gastrointestinal tract;HP:0000501|Glaucoma;HP:0000238|Hydrocephalus;HP:0007440|Generalized hyperpigmentation;HP:0002315|Headache
hemophilia	HP:0005261|Joint hemorrhage;HP:0001934|Excessive bleeding after minor trauma;HP:0003125|Reduced factor VIII activity;HP:0003645|Delayed thromboplastin generation;HP:0002758|Osteoarthritis;HP:0001892|Bleeding diathesis;HP:0000978|Bruisability
nephroblastoma	HP:0002716|Lymphadenopathy;HP:0100526|Neoplasm of the lung;HP:0002664|Neoplasm;HP:0002667|Nephroblastoma;HP:0000526|Aniridia;HP:0002896|Neoplasm of the liver;HP:0002027|Abdominal pain;HP:0000822|Hypertension;HP:0001824|Weight loss;HP:0001945|Fever;HP:0000790|Hematuria;HP:0002667|Wilms tumor
cleft palate	HP:0000175|Cleft palate;HP:0100335|Non-midline cleft lip
sickle cell anemia	HP:0002240|Enlarged liver;HP:0001935|Microcytic anemia;HP:0000488|Noninflammatory retina disease;HP:0200023|Priapism;HP:0001923|Reticulocytosis;HP:0012531|Pain;HP:0000707|Abnormality of the nervous system;HP:0005518|Increased mean corpuscular volume;HP:0011981|Pigment gallstones;HP:0000790|Hematuria;HP:0002719|Recurrent infections;HP:0001894|Thrombocytosis;HP:0001081|Gallstones;HP:0001878|Hemolytic anemia;HP:0012418|Hypoxemia;HP:0002754|Osteomyelitis;HP:0001396|Cholestasis;HP:0001878|Haemolytic anaemia;HP:0045040|Abnormal lactate dehydrogenase activity;HP:0008346|Increased sickling of erythrocytes;HP:0000939|Osteoporosis;HP:0003259|Elevated serum creatinine;HP:0004870|Chronic hemolytic anemia;HP:0002597|Abnormality of the vasculature;HP:0001744|Splenomegaly;HP:0000952|Yellow skin;HP:0001974|Leukocytosis;HP:0100749|Chest pain;HP:0001891|Iron deficiency anemia;HP:0001640|Increased heart size;HP:0010885|Aseptic necrosis;HP:0011904|Persistence of hemoglobin F;HP:0008282|Unconjugated hyperbilirubinemia;HP:0001743|Abnormality of the spleen;HP:0001931|Hypochromic anemia
beta-thalassemia	HP:0000044|Hypogonadotrophic hypogonadism;HP:0000924|Abnormality of the skeletal system;HP:0001744|Splenomegaly;HP:0001081|Cholelithiasis;HP:0001873|Thrombocytopenia;HP:0002093|Respiratory insufficiency;HP:0004370|Abnormality of temperature regulation;HP:0001324|Muscle weakness;HP:0004936|Venous thrombosis;HP:0011031|Abnormality of iron homeostasis;HP:0000737|Irritability;HP:0000929|Abnormality of the skull;HP:0012115|Hepatitis;HP:0001639|Hypertrophic cardiomyopathy;HP:0004349|Reduced bone mineral density;HP:0002240|Hepatomegaly;HP:0011902|Abnormal hemoglobin;HP:0200042|Skin ulcer;HP:0000980|Pallor;HP:0001903|Anemia;HP:0001935|Microcytic anemia
alzheimer disease	HP:0002423|Long tract signs;HP:0002511|Late-onset form of familial Alzheimer disease;HP:0002185|Paired helical filaments;HP:0001300|Parkinsonism;HP:0000726|Dementia
erythromelalgia	HP:0010783|Erythema;HP:0002045|Hypothermia;HP:0002633|Vasculitis;HP:0001909|Leukemia;HP:0001872|Abnormality of thrombocytes;HP:0009830|Peripheral neuropathy;HP:0000989|Pruritus;HP:0002205|Recurrent respiratory infections
propionic acidemia	HP:0001263|Global developmental delay;HP:0010978|Abnormality of immune system physiology;HP:0011675|Arrhythmia;HP:0001987|Hyperammonemia;HP:0002019|Constipation;HP:0001943|Hypoglycemia;HP:0001249|Intellectual disability;HP:0003353|Propionyl-CoA carboxylase deficiency;HP:0002240|Hepatomegaly;HP:0001992|Organic aciduria;HP:0001638|Cardiomyopathy
severe combined immunodeficiency	HP:0000988|Skin rash;HP:0001744|Splenomegaly;HP:0001596|Alopecia;HP:0002721|Immunodeficiency;HP:0100806|Sepsis;HP:0000252|Microcephaly;HP:0000389|Chronic otitis media;HP:0002028|Chronic diarrhea;HP:0004430|Severe combined immunodeficiency;HP:0000164|Abnormality of the teeth;HP:0001888|Lymphopenia;HP:0001508|Failure to thrive;HP:0001945|Fever;HP:0002240|Hepatomegaly;HP:0000407|Sensorineural hearing impairment;HP:0100763|Abnormality of the lymphatic system;HP:0000010|Recurrent urinary tract infections;HP:0002205|Recurrent respiratory infections
lymphangioleiomyomatosis	HP:0005562|Multiple renal cysts;HP:0002239|Gastrointestinal hemorrhage;HP:0012733|Macule;HP:0002094|Dyspnea;HP:0012086|Abnormal urinary color;HP:0012798|Pulmonary lymphangiomyomatosis;HP:0012378|Fatigue;HP:0100543|Cognitive impairment;HP:0002027|Abdominal pain;HP:0001000|Abnormality of skin pigmentation;HP:0009594|Retinal hamartoma;HP:0001004|Lymphedema;HP:0002205|Recurrent respiratory infections;HP:0002716|Lymphadenopathy;HP:0002091|Restrictive lung disease;HP:0002097|Emphysema;HP:0009721|Shagreen patch;HP:0012798|Pulmonary myomatosis;HP:0002113|Pulmonary infiltrates;HP:0000790|Hematuria;HP:0002105|Hemoptysis;HP:0001541|Ascites;HP:0000008|Abnormality of female internal genitalia;HP:0001250|Seizures;HP:0010310|Chylothorax;HP:0100750|Atelectasis;HP:0002107|Pneumothorax;HP:0001945|Fever;HP:0100763|Abnormality of the lymphatic system;HP:0000648|Optic atrophy;HP:0009726|Renal neoplasm;HP:0011852|Chylopericardium;HP:0012735|Cough;HP:0100804|Ungual fibroma;HP:0100749|Chest pain;HP:0000238|Hydrocephalus;HP:0006772|Renal angiomyolipoma
epidermolysis bullosa simplex	HP:0008391|Dystrophic fingernails;HP:0000987|Atypical scarring of skin;HP:0000962|Hyperkeratosis;HP:0001597|Abnormality of the nail;HP:0001810|Dystrophic toenail;HP:0002664|Neoplasm;HP:0008386|Aplasia/Hypoplasia of the nails;HP:0001531|Failure to thrive in infancy;HP:0001000|Abnormality of skin pigmentation;HP:0002021|Pyloric stenosis;HP:0200042|Skin ulcer;HP:0001231|Abnormality of the fingernails;HP:0008066|Abnormal blistering of the skin;HP:0000982|Palmoplantar keratoderma
osteogenesis imperfecta	HP:0000670|Carious teeth;HP:0006487|Bowing of the long bones;HP:0000682|Abnormality of dental enamel;HP:0000239|Large fontanelles;HP:0004322|Short stature;HP:0003103|Abnormal cortical bone morphology;HP:0000365|Hearing impairment;HP:0000248|Brachycephaly;HP:0000592|Blue sclerae;HP:0005019|Diaphyseal thickening;HP:0002645|Wormian bones;HP:0000767|Pectus excavatum;HP:0000347|Micrognathia;HP:0001873|Thrombocytopenia;HP:0004306|Abnormality of the endocardium;HP:0001537|Umbilical hernia;HP:0002564|Malformation of the heart and great vessels;HP:0011073|Abnormality of dental color;HP:0005692|Joint hyperflexibility;HP:0000883|Thin ribs;HP:0000164|Abnormality of the teeth;HP:0000774|Narrow chest;HP:0001511|Intrauterine growth retardation;HP:0000772|Abnormality of the ribs;HP:0002823|Abnormality of the femur;HP:0004331|Decreased skull ossification;HP:0000703|Dentinogenesis imperfecta;HP:0000975|Hyperhidrosis;HP:0003312|Abnormal form of the vertebral bodies;HP:0007957|Corneal opacity;HP:0001288|Gait disturbance;HP:0000256|Macrocephaly;HP:0002650|Scoliosis;HP:0002757|Recurrent fractures;HP:0000938|Osteopenia;HP:0003179|Protrusio acetabuli;HP:0000939|Osteoporosis;HP:0003272|Abnormality of the hip bone;HP:0002808|Kyphosis;HP:0002992|Abnormality of the tibia;HP:0100761|Visceral angiomatosis;HP:0002857|Genu valgum;HP:0000023|Inguinal hernia;HP:0003100|Slender long bone;HP:0000269|Prominent occiput;HP:0000505|Visual impairment;HP:0000444|Convex nasal ridge;HP:0002980|Femoral bowing;HP:0000325|Triangular face;HP:0004586|Biconcave vertebral bodies;HP:0000501|Glaucoma;HP:0000768|Pectus carinatum;HP:0000944|Abnormality of the metaphyses;HP:0002983|Micromelia
frasier syndrome	HP:0008723|Gonadal dysgenesis with female appearance, male;HP:0003774|End-stage renal failure;HP:0000786|Primary amenorrhea;HP:0000037|Male pseudohermaphroditism;HP:0100820|Glomerulopathy;HP:0000033|Ambiguous genitalia, male;HP:0000815|Hypergonadotropic hypogonadism;HP:0002667|Nephroblastoma;HP:0010464|Streak ovary;HP:0000097|Focal segmental glomerulosclerosis;HP:0000149|Ovarian gonadoblastoma;HP:0000837|Increased circulating gonadotropin level;HP:0000097|focal glomerulosclerosis;HP:0000100|Nephrotic syndrome;HP:0000100|Nephrosis;HP:0008214|Decreased serum estradiol;HP:0000822|Hypertension;HP:0000133|Mixed gonadal dysgenesis;HP:0000150|Gonadoblastoma;HP:0000093|Proteinuria;HP:0000083|Renal insufficiency
porphyria cutanea tarda	HP:0000988|Skin rash;HP:0000963|Thin skin;HP:0000987|Atypical scarring of skin;HP:0010783|Erythema;HP:0001394|Cirrhosis;HP:0001402|Hepatocellular carcinoma;HP:0001645|Sudden cardiac death;HP:0200037|Skin vesicle;HP:0000992|Cutaneous photosensitivity;HP:0001053|Hypopigmented skin patches;HP:0100021|Cerebral palsy;HP:0002230|Generalized hirsutism;HP:0001397|Hepatic steatosis;HP:0000953|Hyperpigmentation of the skin;HP:0008066|Abnormal blistering of the skin;HP:0000969|Edema
oral submucous fibrosis	HP:0000160|Narrow mouth;HP:0001371|Flexion contracture;HP:0012182|Oropharyngeal squamous cell carcinoma;HP:0000163|Abnormality of the oral cavity;HP:0000211|Trismus;HP:0000600|Abnormality of the pharynx;HP:0100825|Cheilitis
schizencephaly	HP:0002353|EEG abnormality;HP:0001263|Global developmental delay;HP:0001250|Seizures;HP:0001257|Spasticity;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0000486|Strabismus;HP:0001269|Hemiparesis;HP:0002132|Porencephaly;HP:0010636|Schizencephaly;HP:0002510|Spastic tetraplegia;HP:0001249|Intellectual disability
alopecia universalis	HP:0002229|Alopecia areata;HP:0000561|Absent eyelashes;HP:0002223|Absent eyebrow;HP:0002289|Alopecia universalis
congenital hypothyroidism	HP:0001263|Global developmental delay;HP:0010864|Intellectual disability, severe;HP:0000492|Abnormality of the eyelid;HP:0000787|Nephrolithiasis;HP:0000518|Cataract;HP:0000239|Large fontanelles;HP:0004322|Short stature;HP:0000246|Sinusitis;HP:0001615|Hoarse cry;HP:0000365|Hearing impairment;HP:0002019|Constipation;HP:0001697|Abnormality of the pericardium;HP:0002575|Tracheoesophageal fistula;HP:0005930|Abnormality of epiphysis morphology;HP:0000135|Hypogonadism;HP:0005214|Intestinal obstruction;HP:0003401|Paresthesia;HP:0001537|Umbilical hernia;HP:0002615|Hypotension;HP:0000158|Macroglossia;HP:0000822|Hypertension;HP:0001315|Reduced tendon reflexes;HP:0000739|Anxiety;HP:0000271|Abnormality of the face;HP:0000478|Abnormality of the eye;HP:0006579|Prolonged neonatal jaundice;HP:0008872|Feeding difficulties in infancy;HP:0000457|Depressed nasal ridge;HP:0000080|Abnormality of reproductive system physiology;HP:0011675|Arrhythmia;HP:0000458|Anosmia;HP:0004491|Large posterior fontanelle;HP:0000648|Optic atrophy;HP:0000830|Anterior hypopituitarism;HP:0001595|Abnormality of the hair;HP:0000820|Abnormality of the thyroid gland;HP:0002360|Sleep disturbance;HP:0001249|Intellectual disability;HP:0000202|Oral cleft;HP:0000853|Goiter;HP:0003270|Abdominal distention;HP:0002045|Hypothermia;HP:0008188|Thyroid dysgenesis;HP:0000504|Abnormality of vision;HP:0100540|Palpebral edema;HP:0000716|Depression;HP:0000280|Coarse facial features;HP:0001071|Angiokeratoma corporis diffusum;HP:0001252|Muscular hypotonia;HP:0000821|Hypothyroidism
enchondromatosis	HP:0000826|Precocious puberty;HP:0002653|Bone pain;HP:0001482|Subcutaneous nodule;HP:0002797|Osteolysis;HP:0006765|Chondrosarcoma;HP:0200042|Skin ulcer;HP:0100764|Lymphangioma;HP:0001903|Anemia;HP:0002763|Abnormal cartilage morphology;HP:0001028|Hemangioma;HP:0002664|Neoplasm;HP:0004936|Venous thrombosis;HP:0005701|Multiple enchondromatosis;HP:0100242|Sarcoma;HP:0100761|Visceral angiomatosis;HP:0000926|Platyspondyly;HP:0001028|Strawberry mark;HP:0011314|Abnormal shape of long bone;HP:0001928|Abnormality of coagulation;HP:0001387|Joint stiffness;HP:0000944|Abnormality of the metaphyses;HP:0002983|Micromelia
prune belly syndrome	HP:0000028|Cryptorchidism;HP:0011100|Intestinal atresia;HP:0002023|Anal atresia;HP:0010957|Congenital posterior urethral valve;HP:0100543|Cognitive impairment;HP:0001629|Ventricular septal defect;HP:0000072|Hydroureter;HP:0001562|Oligohydramnios;HP:0002019|Constipation;HP:0008734|Decreased testicular size;HP:0000767|Pectus excavatum;HP:0000010|Recurrent urinary tract infections;HP:0001631|Atrial septal defect;HP:0000083|Renal insufficiency;HP:0002205|Recurrent respiratory infections;HP:0005199|Aplasia of the abdominal wall musculature;HP:0001374|Congenital hip dislocation;HP:0000130|Abnormality of the uterus;HP:0001762|Talipes equinovarus;HP:0001643|Patent ductus arteriosus;HP:0000069|Abnormality of the ureter;HP:0001636|Tetralogy of Fallot;HP:0002580|Volvulus;HP:0000772|Abnormality of the ribs;HP:0000076|Vesicoureteral reflux;HP:0000003|Multicystic kidney dysplasia;HP:0002650|Scoliosis;HP:0001508|Failure to thrive;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0000014|Abnormality of the bladder;HP:0003422|Vertebral segmentation defect;HP:0002566|Intestinal malrotation;HP:0100779|Urogenital sinus anomaly;HP:0000144|Decreased fertility
myotonia congenita	HP:0003198|Myopathic changes;HP:0000707|Neurological abnormality
marfan syndrome	HP:0002636|Aneurysm of an abdominal artery;HP:0001065|Striae distensae;HP:0002108|Spontaneous pneumothorax;HP:0000541|Retinal detachment;HP:0000545|Myopia;HP:0001166|Arachnodactyly;HP:0001519|Disproportionate tall stature;HP:0005294|Arterial dissection;HP:0001533|Slender build;HP:0012432|Chronic fatigue;HP:0000678|Dental crowding;HP:0007676|Hypoplasia of the iris;HP:0004933|Ascending aortic dissection;HP:0000767|Pectus excavatum;HP:0003302|Spondylolisthesis;HP:0001635|Congestive heart failure;HP:0012369|Malar anomaly;HP:0000347|Micrognathia;HP:0003326|Myalgia;HP:0007720|Flat cornea;HP:0002996|Limited elbow movement;HP:0006687|Aortic tortuosity;HP:0100775|Dural ectasia;HP:0002097|Emphysema;HP:0002435|Meningocele;HP:0002105|Hemoptysis;HP:0012019|Lens luxation;HP:0000494|Downslanted palpebral fissures;HP:0000175|Cleft palate;HP:0000275|Narrow face;HP:0002650|Scoliosis;HP:0003179|Protrusio acetabuli;HP:0000938|Osteopenia;HP:0000939|Osteoporosis;HP:0002808|Kyphosis;HP:0007018|Attention deficit hyperactivity disorder;HP:0000268|Dolichocephaly;HP:0000023|Inguinal hernia;HP:0002360|Sleep disturbance;HP:0002705|High, narrow palate;HP:0000278|Retrognathia;HP:0004927|Pulmonary artery dilatation;HP:0004326|Cachexia;HP:0001382|Joint hypermobility;HP:0001083|Ectopia lentis;HP:0001634|Mitral valve prolapse;HP:0000505|Visual impairment;HP:0005059|Arthralgia/arthritis;HP:0001132|Lens subluxation;HP:0007800|Increased axial globe length;HP:0010807|Open bite;HP:0001763|Pes planus;HP:0001252|Muscular hypotonia;HP:0012499|Descending aortic dissection;HP:0000501|Glaucoma;HP:0000768|Pectus carinatum;HP:0005111|Dilatation of the ascending aorta;HP:0003202|Skeletal muscle atrophy;HP:0004382|Mitral valve calcification
fibrodysplasia ossificans progressiva	HP:0010054|Abnormality of the first metatarsal bone;HP:0001250|Seizures;HP:0003306|Spinal rigidity;HP:0001596|Alopecia;HP:0000501|Glaucoma;HP:0001822|Hallux valgus;HP:0002093|Respiratory insufficiency;HP:0010109|Short hallux;HP:0011987|Ectopic ossification in muscle tissue;HP:0000365|Hearing impairment;HP:0001482|Subcutaneous nodule;HP:0003468|Abnormality of the vertebrae;HP:0001508|Failure to thrive;HP:0011989|Ectopic ossification in ligament tissue;HP:0001376|Limitation of joint mobility;HP:0100240|Synostosis of joints;HP:0004209|Clinodactyly of the 5th finger;HP:0001903|Anemia;HP:0010058|Aplasia/Hypoplasia of the phalanges of the hallux;HP:0001249|Intellectual disability
bloom syndrome	HP:0002860|Squamous cell carcinoma;HP:0000028|Cryptorchidism;HP:0002720|IgA deficiency;HP:0002110|Bronchiectasis;HP:0003196|Short nose;HP:0004322|Short stature;HP:0005585|Spotty increased pigmentation;HP:0000027|Azoospermia;HP:0000246|Sinusitis;HP:0100585|Telangiectasia of the skin;HP:0000275|Decreased width of face;HP:0008897|Postnatal growth retardation;HP:0000366|Abnormality of the nose;HP:0000957|Cafe-au-lait macules;HP:0002205|Recurrent respiratory infections;HP:0002850|Decreased IgM level;HP:0010783|Erythema;HP:0004209|Clinodactyly of fifth digit;HP:0006101|Finger syndactyly;HP:0008897|Growth retardation as children;HP:0001909|Leukemia;HP:0001053|Hypopigmented skin patches;HP:0002014|Diarrhea;HP:0004313|Decreased antibody level in blood;HP:0000960|Sacral dimple;HP:0001511|Intrauterine growth retardation;HP:0003220|Abnormality of chromosome stability;HP:0000271|Abnormality of the face;HP:0002720|Decreased immunoglobulin A;HP:0001256|Intellectual disability, mild;HP:0000992|Skin photosensitivity;HP:0005598|Facial telangiectasia in butterfly midface distribution;HP:0000975|Hyperhidrosis;HP:0000252|Small head circumference;HP:0001161|Polydactyly of the hand;HP:0005590|Spotty hypopigmentation;HP:0002665|Lymphoma;HP:0002664|Neoplasm;HP:0000411|Prominent ears;HP:0000252|Microcephaly;HP:0000868|Decreased fertility in females;HP:0000275|Narrow face;HP:0000951|Abnormality of the skin;HP:0000272|Malar flattening;HP:0005978|Noninsulin dependent diabetes mellitus;HP:0000268|Dolichocephaly;HP:0001511|Prenatal onset growth retardation;HP:0005585|Spotty hyperpigmentation;HP:0004315|IgG deficiency;HP:0000998|Hypertrichosis;HP:0001159|Webbed fingers or toes;HP:0000448|Big nose;HP:0000272|Depressed malar region;HP:0000690|Absent upper lateral incisors;HP:0006528|Chronic lung disease;HP:0000411|Protruding ear;HP:0002850|IgM deficiency;HP:0000992|Cutaneous photosensitivity;HP:0002750|Delayed skeletal maturation;HP:0002488|Acute leukemia;HP:0001328|Specific learning disability;HP:0001620|High pitched voice;HP:0001161|Hand polydactyly;HP:0001256|Mild mental retardation;HP:0007378|Neoplasm of the gastrointestinal tract;HP:0009804|Reduced number of teeth;HP:0008064|Ichthyosis;HP:0010669|Cheekbone underdevelopment
coats disease	HP:0001103|Abnormality of the macula;HP:0000518|Cataract;HP:0000593|Abnormality of the anterior chamber;HP:0000486|Strabismus;HP:0000541|Retinal detachment;HP:0008046|Abnormality of the retinal vasculature;HP:0008053|Aplasia/Hypoplasia of the iris;HP:0000501|Glaucoma
noonan syndrome	HP:0000044|Hypogonadotrophic hypogonadism;HP:0000028|Cryptorchidism;HP:0000639|Nystagmus;HP:0000520|Proptosis;HP:0000078|Abnormality of the genital system;HP:0011800|Midface retrusion;HP:0004322|Short stature;HP:0000474|Thickened nuchal skin fold;HP:0000218|High palate;HP:0007477|Abnormal dermatoglyphics;HP:0000767|Pectus excavatum;HP:0001004|Lymphedema;HP:0000508|Ptosis;HP:0001260|Dysarthria;HP:0001156|Brachydactyly syndrome;HP:0000347|Micrognathia;HP:0002564|Malformation of the heart and great vessels;HP:0000486|Strabismus;HP:0002167|Neurological speech impairment;HP:0000465|Webbed neck;HP:0000316|Hypertelorism;HP:0005692|Joint hyperflexibility;HP:0011381|Aplasia of the semicircular canal;HP:0010318|Aplasia/Hypoplasia of the abdominal wall musculature;HP:0000407|Sensorineural hearing impairment;HP:0002208|Coarse hair;HP:0000494|Downslanted palpebral fissures;HP:0000476|Cystic hygroma;HP:0008872|Feeding difficulties in infancy;HP:0002650|Scoliosis;HP:0004415|Pulmonary artery stenosis;HP:0011675|Arrhythmia;HP:0001641|Abnormality of the pulmonary valve;HP:0100763|Abnormality of the lymphatic system;HP:0002240|Hepatomegaly;HP:0004209|Clinodactyly of the 5th finger;HP:0100625|Enlarged thorax;HP:0000995|Melanocytic nevus;HP:0001892|Abnormal bleeding;HP:0002162|Low posterior hairline;HP:0002974|Radioulnar synostosis;HP:0006610|Wide intermamillary distance;HP:0000179|Thick lower lip vermilion;HP:0011362|Abnormal hair quantity;HP:0000348|High forehead;HP:0001324|Muscle weakness;HP:0001928|Abnormality of coagulation;HP:0002750|Delayed skeletal maturation;HP:0000325|Triangular face;HP:0000368|Low-set, posteriorly rotated ears;HP:0001252|Muscular hypotonia;HP:0000768|Pectus carinatum;HP:0000391|Thickened helices;HP:0001743|Abnormality of the spleen;HP:0011869|Abnormal platelet function
pheochromocytoma	HP:0000975|Increased sweating;HP:0000519|Cataracts, lenticular, bilateral;HP:0003072|Hypercalcemia;HP:0001635|Congestive heart failure;HP:0002666|Pheochromocytoma;HP:0001342|Intracerebral hemorrhage;HP:0001095|Hypertensive retinopathy;HP:0001920|Renal artery stenosis;HP:0000093|Proteinuria;HP:0003345|Elevated urinary norepinephrine;HP:0001649|Tachycardia;HP:0001028|Strawberry mark;HP:0003574|Positive regitine blocking test;HP:0000875|Intermittent high blood pressure;HP:0000957|Cafe-au-lait macules;HP:0002664|Neoplasia
walker-warburg syndrome	HP:0001263|Global developmental delay;HP:0007227|Macrogyria;HP:0040081|Abnormal levels of creatine kinase in blood;HP:0000028|Cryptorchidism;HP:0001274|Agenesis of corpus callosum;HP:0000176|Submucous cleft hard palate;HP:0000568|Microphthalmia;HP:0000518|Cataract;HP:0002334|Abnormality of the cerebellar vermis;HP:0000541|Retinal detachment;HP:0001331|Absent septum pellucidum;HP:0002119|Ventriculomegaly;HP:0001321|Cerebellar hypoplasia;HP:0000587|Abnormality of the optic nerve;HP:0000358|Posteriorly rotated ears;HP:0001339|Lissencephaly;HP:0007973|Retinal dysplasia;HP:0008736|Hypoplasia of penis;HP:0002269|Abnormality of neuronal migration;HP:0001460|Aplasia/Hypoplasia involving the skeletal musculature;HP:0007731|Chorioretinal dysplasia;HP:0002536|Abnormal cortical gyration;HP:0000369|Low-set ears;HP:0000193|Bifid uvula;HP:0001265|Hyporeflexia;HP:0001302|Pachygyria;HP:0000612|Iris coloboma;HP:0001250|Seizures;HP:0000175|Cleft palate;HP:0007957|Corneal opacity;HP:0000256|Macrocephaly;HP:0012400|Abnormal aldolase level;HP:0045040|Abnormal lactate dehydrogenase activity;HP:0010508|Metatarsus valgus;HP:0000528|Anophthalmia;HP:0001284|Areflexia;HP:0000252|Microcephaly;HP:0000648|Optic atrophy;HP:0003560|Muscular dystrophy;HP:0001305|Dandy-Walker malformation;HP:0001249|Intellectual disability;HP:0000556|Retinal dystrophy;HP:0000411|Protruding ear;HP:0001324|Muscle weakness;HP:0002126|Polymicrogyria;HP:0001328|Specific learning disability;HP:0001252|Muscular hypotonia;HP:0000501|Glaucoma;HP:0000238|Hydrocephalus;HP:0003202|Skeletal muscle atrophy;HP:0000482|Microcornea
pycnodysostosis	HP:0011800|Midface retrusion;HP:0000520|Proptosis;HP:0000670|Dental caries;HP:0006335|Delayed loss of primary teeth;HP:0002653|Bone pain;HP:0004474|Front fontanelle stays open;HP:0000347|Hypoplasia of mandible;HP:0003302|Spondylolithesis;HP:0004322|Short stature;HP:0100543|Cognitive impairment;HP:0009839|Osteolytic defects of the outermost finger bone of the hand;HP:0000248|Brachycephaly;HP:0000696|Delayed eruption of secondary dentition;HP:0000592|Blue sclerae;HP:0005930|Abnormality of epiphysis morphology;HP:0002645|Wormian bones;HP:0002793|Abnormal pattern of respiration;HP:0002797|Osteolysis;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0001807|Ridged nail;HP:0003304|Spondylolysis;HP:0001156|Brachydactyly syndrome;HP:0004322|Stature below 3rd percentile;HP:0002652|Skeletal dysplasia;HP:0002007|Frontal bossing;HP:0003307|Hyperlordosis;HP:0006482|Abnormality of dental morphology;HP:0000164|Abnormality of the teeth;HP:0000684|Delayed eruption of teeth;HP:0000774|Narrow chest;HP:0002007|Frontal protruberance;HP:0000189|Decreased transverse dimension of palate;HP:0001903|Anemia;HP:0000271|Abnormality of the face;HP:0000924|Abnormality of the skeletal system;HP:0000889|Abnormality of the clavicle;HP:0001831|Short toe;HP:0000925|Abnormality of the vertebral column;HP:0002754|Osteomyelitis;HP:0000269|Protruding occiput;HP:0011001|Increased bone mineral density;HP:0002688|Absent frontal sinuses;HP:0001807|Grooved nails;HP:0001156|Brachydactyly;HP:0002650|Scoliosis;HP:0000951|Abnormality of the skin;HP:0002757|Recurrent fractures;HP:0003468|Abnormality of the vertebrae;HP:0002808|Kyphosis;HP:0000272|Malar flattening;HP:0002240|Hepatomegaly;HP:0000680|Late eruption of primary teeth;HP:0001231|Abnormality of the fingernails;HP:0001597|Abnormality of the nail;HP:0001744|Splenomegaly;HP:0000448|Big nose;HP:0002644|Abnormal shape of pelvic girdle bone;HP:0009106|Abnormal pelvis bone ossification;HP:0000348|High forehead;HP:0002645|Extra bones within cranial sutures;HP:0000765|Abnormality of the thorax;HP:0004474|Persistent open anterior fontanelle;HP:0000189|Narrow palate;HP:0000238|Hydrocephalus;HP:0000668|Failure of development of between one and six teeth;HP:0009882|Short distal phalanx of finger
myelofibrosis	HP:0011974|Myelofibrosis;HP:0005547|Myeloproliferative disorder
refsum disease	HP:0000639|Nystagmus;HP:0001765|Hammertoe;HP:0010864|Intellectual disability, severe;HP:0002654|Multiple epiphyseal dysplasia;HP:0000568|Microphthalmia;HP:0000518|Cataract;HP:0000496|Abnormality of eye movement;HP:0000616|Miosis;HP:0007256|Abnormal pyramidal signs;HP:0012211|Renal functional abnormality;HP:0003474|Sensory impairment;HP:0002164|Nail dysplasia;HP:0002376|Developmental regression;HP:0005930|Abnormality of epiphysis morphology;HP:0000508|Ptosis;HP:0000083|Renal insufficiency;HP:0001635|Congestive heart failure;HP:0001251|Ataxia;HP:0002652|Skeletal dysplasia;HP:0009830|Peripheral neuropathy;HP:0007141|Mixed polyneuropathy;HP:0000407|Sensorineural hearing impairment;HP:0011675|Arrhythmias;HP:0003202|Skeletal muscle atrophy;HP:0004374|Hemiplegia/hemiparesis;HP:0010571|Elevated levels of phytanic acid;HP:0010049|Short metacarpal;HP:0000478|Abnormality of the eye;HP:0004689|Short 4th long bone of foot;HP:0002093|Respiratory insufficiency;HP:0000616|Constricted pupils;HP:0001265|Decreased tendon reflexes;HP:0000662|Poor night vision;HP:0000458|Anosmia;HP:0003690|Limb weakness;HP:0000529|Progressive visual loss;HP:0001760|Abnormality of the foot;HP:0007703|Abnormality of retinal pigmentation;HP:0001761|Pes cavus;HP:0001939|Abnormality of metabolism/homeostasis;HP:0001638|Cardiomyopathy;HP:0012722|Heart block;HP:0001744|Splenomegaly;HP:0000504|Abnormality of vision;HP:0000505|Visual impairment;HP:0000958|Dry skin;HP:0000488|Retinopathy;HP:0000510|Retinitis pigmentosa;HP:0002922|Increased CSF protein;HP:0001640|Increased heart size;HP:0000407|sensorineural hearing loss;HP:0000546|Retinal degeneration;HP:0001252|Muscular hypotonia;HP:0000508|Drooping upper eyelid;HP:0008064|Ichthyosis;HP:0000662|Nyctalopia
melkersson-rosenthal syndrome	HP:0000639|Nystagmus;HP:0000282|Facial puffiness;HP:0000221|Scrotal tongue;HP:0002459|Dysautonomia;HP:0002716|Lymphadenopathy;HP:0010471|Oligosacchariduria;HP:0000298|Mask-like facies;HP:0000221|Furrowed tongue;HP:0000158|Macroglossia;HP:0000478|Abnormal eye;HP:0006824|Cranial nerve paralysis;HP:0001945|Fever;HP:0010628|Facial palsy;HP:0011123|Inflammatory abnormality of the skin;HP:0100539|Periorbital edema;HP:0100825|Cheilitis;HP:0010628|Facial palsy, unilateral or bilateral;HP:0000969|Edema
angelman syndrome	HP:0010864|Intellectual disability, severe;HP:0001344|Absent speech;HP:0000248|Brachycephaly;HP:0001251|Ataxia;HP:0000154|Wide mouth;HP:0000303|Mandibular prognathia;HP:0000486|Strabismus;HP:0002167|Neurological speech impairment;HP:0000158|Macroglossia;HP:0002120|Cerebral cortical atrophy;HP:0000271|Abnormality of the face;HP:0002353|EEG abnormality;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0000635|Blue irides;HP:0000327|Hypoplasia of the maxilla;HP:0000252|Microcephaly;HP:0000023|Inguinal hernia;HP:0001347|Hyperreflexia;HP:0000687|Widely spaced teeth;HP:0001252|Muscular hypotonia;HP:0006887|Intellectual disability, progressive
kearns-sayre syndrome	HP:0008207|Addison's disease;HP:0003200|Ragged-red muscle fibers;HP:0002135|Basal ganglia calcification;HP:0003200|Ragged-red fibers;HP:0000365|Hearing impairment;HP:0001924|Hypersideremic anemia;HP:0000590|Progressive external ophthalmoplegia;HP:0001709|Complete heart block;HP:0004322|Stature below 3rd percentile;HP:0001251|Ataxia;HP:0000580|Pigmentary retinopathy;HP:0001315|Reduced tendon reflexes;HP:0004374|Hemiplegia/hemiparesis;HP:0001250|Seizures;HP:0004622|Progressive intervertebral space narrowing;HP:0000252|Small head circumference;HP:0000763|Sensory neuropathy;HP:0003128|Lactic acidosis;HP:0003457|EMG abnormality;HP:0001709|Third degree atrioventricular block;HP:0000726|Dementia;HP:0001324|Muscular weakness;HP:0001947|Renal tubular acidosis;HP:0007703|Abnormality of retinal pigmentation;HP:0000830|Anterior hypopituitarism;HP:0001638|Cardiomyopathy;HP:0000829|Hypoparathyroidism;HP:0002750|Delayed skeletal maturation;HP:0000819|Diabetes mellitus;HP:0002922|Increased CSF protein;HP:0000407|sensorineural hearing loss;HP:0001994|'de toni-fanconi-debre' syndrome;HP:0001252|Muscular hypotonia;HP:0000508|Drooping upper eyelid;HP:0003202|Skeletal muscle atrophy
chronic granulomatous disease	HP:0012733|Macule;HP:0000246|Sinusitis;HP:0006510|Chronic obstructive pulmonary disease;HP:0002575|Tracheoesophageal fistula;HP:0001287|Meningitis;HP:0100806|Sepsis;HP:0100523|Liver abscess;HP:0002205|Recurrent respiratory infections;HP:0100533|Inflammatory abnormality of the eye;HP:0100721|Mediastinal lymphadenopathy;HP:0001874|Abnormality of neutrophils;HP:0200042|Skin ulcer;HP:0002024|Malabsorption;HP:0000388|Otitis media;HP:0000230|Gingivitis;HP:0001945|Fever;HP:0002240|Hepatomegaly;HP:0002021|Pyloric stenosis;HP:0001744|Splenomegaly;HP:0000992|Cutaneous photosensitivity;HP:0001034|Hypermelanotic macule;HP:0000964|Eczema
rhizomelic chondrodysplasia punctata	HP:0010864|Intellectual disability, severe;HP:0000286|Epicanthus;HP:0009826|Limb undergrowth;HP:0001596|Alopecia;HP:0000958|Dry skin;HP:0000518|Cataract;HP:0008905|Rhizomelia;HP:0010655|Epiphyseal stippling;HP:0004322|Short stature;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0003298|Spina bifida occulta;HP:0012368|Flat face;HP:0000164|Abnormality of the teeth;HP:0002231|Sparse body hair;HP:0005930|Abnormality of epiphysis morphology;HP:0001376|Limitation of joint mobility;HP:0000944|Abnormality of the metaphyses;HP:0008064|Ichthyosis;HP:0001510|Growth delay
ovarian hyperstimulation syndrome	HP:0008675|Enlarged polycystic ovaries;HP:0003270|Abdominal distention;HP:0002018|Nausea;HP:0002202|Pleural effusion;HP:0030088|Increased serum testosterone level;HP:0012398|Peripheral edema;HP:0012886|Hemorrhagic ovarian cyst;HP:0000138|Ovarian cyst;HP:0011106|Hypovolemia;HP:0000119|Genitourinary abnormality;HP:0001007|Hirsutism;HP:0002027|Abdominal pain;HP:0000837|Increased circulating gonadotropin level;HP:0002017|Nausea and vomiting;HP:0007430|Generalized edema;HP:0100598|Pulmonary edema;HP:0030005|Capillary leak;HP:0001541|Ascites
cerebrotendinous xanthomatosis	HP:0003107|Abnormality of cholesterol metabolism;HP:0000787|Nephrolithiasis;HP:0001336|Myoclonus;HP:0000518|Cataract;HP:0000738|Sensory hallucination;HP:0007256|Abnormal pyramidal signs;HP:0000746|Delusions;HP:0003124|Hypercholesterolemia;HP:0002376|Developmental regression;HP:0001373|Joint dislocation;HP:0010845|EEG: generalised slow activity;HP:0001257|Spasticity;HP:0002059|Degeneration of cerebrum;HP:0001251|Ataxia;HP:0002014|Diarrhea;HP:0002167|Neurological speech impairment;HP:0009830|Peripheral neuropathy;HP:0001332|Dystonia;HP:0009830|Peripheral neuritis;HP:0002518|Abnormality of the periventricular white matter;HP:0001114|Fatty deposits on eyelids;HP:0001081|Gallstones;HP:0001249|Mental retardation;HP:0001681|Angina pectoris;HP:0000478|Abnormality of the eye;HP:0002024|Malabsorption;HP:0001250|Seizures;HP:0000708|Behavioral abnormality;HP:0002071|Abnormality of extrapyramidal motor function;HP:0002353|EEG abnormality;HP:0000543|Pale optic disc;HP:0001658|Myocardial infarction;HP:0001396|Cholestasis;HP:0100291|Abnormality of central somatosensory evoked potentials;HP:0001114|Xanthelasma;HP:0000939|Osteoporosis;HP:0000726|Dementia;HP:0002514|Cerebral calcification;HP:0000991|Xanthomatosis;HP:0001249|Intellectual disability;HP:0000504|Abnormality of vision;HP:0007024|Pseudobulbar palsy;HP:0001324|Muscle weakness;HP:0001347|Hyperreflexia;HP:0001337|Tremor;HP:0001387|Joint stiffness;HP:0003482|EMG: axonal abnormality;HP:0001272|Cerebellar atrophy;HP:0000716|Depression;HP:0000738|Hallucinations;HP:0010874|Tendon xanthomatosis;HP:0100321|Abnormality of the dentate nucleus;HP:0002093|progressive respiratory failure;HP:0002621|Atherosclerosis
menkes disease	HP:0002239|Gastrointestinal hemorrhage;HP:0006487|Bowing of the long bones;HP:0012378|Fatigue;HP:0000248|Brachycephaly;HP:0002376|Developmental regression;HP:0002072|Chorea;HP:0002645|Wormian bones;HP:0002224|Woolly hair;HP:0100806|Sepsis;HP:0000767|Pectus excavatum;HP:0000974|Hyperextensible skin;HP:0100545|Arterial stenosis;HP:0000987|Atypical scarring of skin;HP:0001257|Spasticity;HP:0000973|Dermatomegaly;HP:0004322|Stature below 3rd percentile;HP:0000347|Micrognathia;HP:0008368|Tarsal synostosis;HP:0001537|Umbilical hernia;HP:0005692|Joint hyperflexibility;HP:0000934|Chondrocalcinosis;HP:0001943|Hypoglycemia;HP:0001010|Hypopigmentation of the skin;HP:0000015|Bladder diverticulum;HP:0000774|Narrow chest;HP:0001511|Intrauterine growth retardation;HP:0002017|Nausea and vomiting;HP:0010318|Aplasia/Hypoplasia of the abdominal wall musculature;HP:0002617|Aneurysm;HP:0001276|Hypertonia;HP:0001249|Mental retardation;HP:0002024|Malabsorption;HP:0006579|Prolonged neonatal jaundice;HP:0008872|Feeding difficulties in infancy;HP:0001250|Seizures;HP:0000708|Behavioral abnormality;HP:0003016|Wide metaphyses;HP:0000252|Small head circumference;HP:0002754|Osteomyelitis;HP:0000298|Mask-like facies;HP:0007420|Spontaneous hematomas;HP:0005599|Hypopigmentation of hair;HP:0001388|Joint laxity;HP:0000252|Microcephaly;HP:0000293|Full cheeks;HP:0002757|Recurrent fractures;HP:0000939|Osteoporosis;HP:0005293|Venous insufficiency;HP:0008070|Sparse hair;HP:0000023|Inguinal hernia;HP:0001511|Prenatal onset growth retardation;HP:0001249|Intellectual disability;HP:0005054|Metaphyseal spurs;HP:0008070|Thinned hair;HP:0002045|Hypothermia;HP:0002045|Abnormally low body temperature;HP:0000269|Prominent occiput;HP:0000958|Dry skin;HP:0001324|Muscle weakness;HP:0002645|Extra bones within cranial sutures;HP:0005344|Abnormality of the carotid arteries;HP:0100777|Exostoses;HP:0001072|Thickened skin;HP:0100790|Hernia;HP:0000174|Abnormality of the palate;HP:0001252|Muscular hypotonia;HP:0002170|Intracranial hemorrhage;HP:0000944|Abnormality of the metaphyses;HP:0000271|Abnormal face
gastrointestinal stromal tumor	HP:0000988|Skin rash;HP:0006753|Neoplasm of the stomach;HP:0002239|Gastrointestinal hemorrhage;HP:0100751|Esophageal neoplasm;HP:0007400|Irregular hyperpigmentation;HP:0012378|Fatigue;HP:0002015|Dysphagia;HP:0100833|Neoplasm of the small intestine;HP:0002019|Constipation;HP:0100242|Sarcoma;HP:0002017|Nausea and vomiting;HP:0001392|Abnormality of the liver;HP:0100723|Gastrointestinal stroma tumor;HP:0007378|Neoplasm of the gastrointestinal tract;HP:0100743|Neoplasm of the rectum;HP:0100273|Neoplasm of the colon;HP:0001903|Anemia;HP:0005214|Intestinal obstruction
oculopharyngeal muscular dystrophy	HP:0000508|Ptosis;HP:0003200|Ragged-red muscle fibers;HP:0004303|Abnormality of muscle fibers;HP:0000298|Mask-like facies;HP:0003236|Elevated serum creatine phosphokinase;HP:0003805|Rimmed vacuoles;HP:0003198|Myopathy;HP:0000600|Abnormality of the pharynx;HP:0000602|Ophthalmoplegia;HP:0003302|Spondylolisthesis
central core disease	HP:0003803|Type 1 muscle fiber predominance;HP:0003198|Myopathy;HP:0003798|Nemaline bodies;HP:0001252|Muscular hypotonia
typhoid	HP:0002239|Gastrointestinal hemorrhage;HP:0012733|Macule;HP:0012378|Fatigue;HP:0002019|Constipation;HP:0002027|Abdominal pain;HP:0002383|Encephalitis;HP:0002829|Arthralgia;HP:0003326|Myalgia;HP:0001251|Ataxia;HP:0001254|Lethargy;HP:0002014|Diarrhea;HP:0001276|Hypertonia;HP:0004936|Venous thrombosis;HP:0001259|Coma;HP:0011675|Arrhythmia;HP:0001945|Fever;HP:0002240|Hepatomegaly;HP:0012735|Cough;HP:0000988|Skin rash;HP:0001744|Splenomegaly;HP:0000421|Epistaxis;HP:0001347|Hyperreflexia;HP:0001337|Tremor;HP:0001695|Cardiac arrest;HP:0006530|Interstitial pulmonary disease;HP:0100785|Insomnia;HP:0002315|Headache
cholesteryl ester storage disease	HP:0001744|Splenomegaly;HP:0010512|Adrenal calcification;HP:0001394|Cirrhosis;HP:0001399|Hepatic failure;HP:0002014|Diarrhea;HP:0002634|Arteriosclerosis;HP:0002017|Nausea and vomiting;HP:0000989|Pruritus;HP:0003124|Hypercholesterolemia;HP:0002155|Hypertriglyceridemia;HP:0000952|Jaundice;HP:0002240|Hepatomegaly;HP:0002040|Esophageal varix
glycine encephalopathy	HP:0002353|EEG abnormality;HP:0100247|Recurrent singultus;HP:0001250|Seizures;HP:0010851|EEG with burst suppression;HP:0002079|Hypoplasia of the corpus callosum;HP:0012705|Abnormal metabolic brain imaging by MRS;HP:0001254|Lethargy;HP:0002154|Hyperglycinemia;HP:0011398|Central hypotonia;HP:0002033|Poor suck;HP:0002123|Generalized myoclonic seizures;HP:0005957|Breathing dysregulation;HP:0005972|Respiratory acidosis
beckwith wiedemann syndrome	HP:0000028|Cryptorchidism;HP:0002240|Enlarged liver;HP:0000158|Abnormally large tongue;HP:0000239|Persistent wide fontanel;HP:0000105|Renal enlargement;HP:0002884|Hepatoblastoma;HP:0008186|Adrenocortical cytomegaly;HP:0001540|Diastasis recti;HP:0000150|Gonadoblastoma;HP:0003247|Overgrowth of external genitalia;HP:0001528|Hemihypertrophy;HP:0001548|Overgrowth;HP:0002667|Wilms tumor;HP:0001998|Low blood sugar in newborn;HP:0005487|Ridging of metopic suture;HP:0001305|Dandy-Walker cyst;HP:0000269|Protruding occiput;HP:0008523|Ear, posterior helical notch;HP:0001539|Omphalocele;HP:0005616|Early bone maturation;HP:0006744|Adrenal carcinoma;HP:0001638|Cardiomyopathy;HP:0000520|Anterior bulging of the globe of eye;HP:0006277|Pancreatic hyperplasia;HP:0001640|Increased heart size;HP:0000280|Coarse facial features
hypokalemic periodic paralysis	HP:0003470|Paralysis;HP:0008256|Adrenocortical adenoma;HP:0030196|Fatigable weakness of respiratory muscles;HP:0004303|Abnormality of muscle fibers;HP:0011998|Postprandial hyperglycemia;HP:0003694|Late-onset proximal muscle weakness;HP:0003457|EMG abnormality;HP:0002203|Respiratory paralysis;HP:0003752|Episodic flaccid weakness;HP:0012240|Increased intramyocellular lipid droplets;HP:0006670|Impaired myocardial contractility;HP:0012726|Episodic hypokalemia;HP:0008180|Mildly elevated creatine phosphokinase;HP:0002486|Myotonia;HP:0008153|Periodic hypokalemic paresis;HP:0009020|Exercise-induced muscle fatigue
tetralogy of fallot	HP:0000520|Anterior bulging of the globe of eye;HP:0000028|Cryptorchidism;HP:0000520|Proptosis;HP:0004209|Clinodactyly of fifth digit;HP:0004467|Pit in front of the ear;HP:0001636|Tetrology of fallot;HP:0001636|Tetralogy of Fallot;HP:0004467|Preauricular pit;HP:0005105|Abnormal nasal morphology;HP:0000233|Thin vermilion border;HP:0001511|Intrauterine growth retardation;HP:0000337|Increased bitemporal dimension;HP:0000268|Dolichocephaly;HP:0009891|Underdeveloped supraorbital ridges;HP:0004209|Clinodactyly of the 5th finger;HP:0000337|Broad forehead;HP:0001156|Brachydactyly syndrome
eosinophilic esophagitis	HP:0002020|Gastroesophageal reflux;HP:0002031|Abnormality of the esophagus;HP:0002015|Dysphagia;HP:0100749|Chest pain;HP:0005203|Spontaneous esophageal perforation;HP:0005240|Esophageal obstruction;HP:0002043|Esophageal stricture;HP:0000969|Edema
neuromyelitis optica	HP:0002459|Dysautonomia;HP:0001250|Seizures;HP:0011277|Abnormality of the urinary system physiology;HP:0030057|Autoimmune antibody positivity;HP:0002921|Abnormality of the cerebrospinal fluid;HP:0003113|Hypochloremia;HP:0100561|Spinal cord lesion;HP:0100543|Cognitive impairment;HP:0002152|Hyperproteinemia;HP:0002516|Increased intracranial pressure;HP:0002017|Nausea and vomiting;HP:0003474|Sensory impairment;HP:0002153|Hyperkalemia;HP:0000572|Visual loss;HP:0002273|Tetraparesis;HP:0000739|Anxiety;HP:0011893|Abnormal leukocyte count;HP:0000836|Hyperthyroidism
osteosarcoma	HP:0006489|Abnormality of the femoral metaphysis;HP:0001939|Laboratory abnormality;HP:0009919|Retinoblastoma;HP:0045040|Abnormal lactate dehydrogenase activity;HP:0001386|Joint swelling;HP:0003155|Elevated alkaline phosphatase;HP:0001824|Weight loss;HP:0012531|Pain;HP:0002756|Pathologic fracture;HP:0001945|Fever;HP:0006491|Abnormality of the tibial metaphysis;HP:0002797|Osteolysis;HP:0000944|Abnormality of the metaphyses;HP:0002669|Osteosarcoma
malaria	HP:0001871|Abnormality of blood and blood-forming tissues;HP:0001919|Acute kidney injury;HP:0003326|Myalgia;HP:0001873|Thrombocytopenia;HP:0100543|Cognitive impairment;HP:0000488|Retinopathy;HP:0002141|Gait imbalance;HP:0002904|Hyperbilirubinemia;HP:0002017|Nausea and vomiting;HP:0011227|Elevated C-reactive protein level;HP:0001945|Fever;HP:0002315|Headache;HP:0004372|Reduced consciousness/confusion;HP:0002011|Morphological abnormality of the central nervous system;HP:0002098|Respiratory distress;HP:0001903|Anemia
kawasaki disease	HP:0012378|Fatigue;HP:0001654|Abnormality of the heart valves;HP:0002027|Abdominal pain;HP:0001287|Meningitis;HP:0100825|Cheilitis;HP:0000093|Proteinuria;HP:0000508|Ptosis;HP:0010783|Erythema;HP:0001635|Congestive heart failure;HP:0002716|Lymphadenopathy;HP:0002829|Arthralgia;HP:0002014|Diarrhea;HP:0002017|Nausea and vomiting;HP:0000206|Glossitis;HP:0100776|Recurrent pharyngitis;HP:0000952|Jaundice;HP:0002633|Vasculitis;HP:0011675|Arrhythmia;HP:0100586|Aseptic leukocyturia;HP:0001945|Fever;HP:0001082|Cholecystitis;HP:0012819|Myocarditis;HP:0002076|Migraine;HP:0011658|Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis;HP:0001701|Pericarditis;HP:0000988|Skin rash;HP:0001974|Leukocytosis;HP:0001369|Arthritis;HP:0006530|Interstitial pulmonary disease;HP:0000509|Conjunctivitis;HP:0000737|Irritability;HP:0006824|Cranial nerve paralysis;HP:0012115|Hepatitis;HP:0100643|Abnormality of nail color;HP:0005111|Dilatation of the ascending aorta;HP:0000969|Edema
pre-eclampsia	HP:0002910|Elevated transaminases;HP:0100601|Eclampsia;HP:0001873|Low platelet count;HP:0001250|Seizures;HP:0000822|Hypertension;HP:0100602|Pre-eclampsia;HP:0000969|Dropsy;HP:0008071|Maternal hypertension;HP:0000093|Proteinuria;HP:0001511|Prenatal onset growth retardation
rheumatoid arthritis	HP:0001871|Abnormality of blood and blood-forming tissues;HP:0002633|Vasculitis;HP:0002715|Abnormality of the immune system;HP:0002086|Respiratory abnormality;HP:0000707|Neurological abnormality;HP:0001370|Rheumatoid arthritis
wiskott-aldrich syndrome	HP:0001025|Urticaria;HP:0011875|Abnormal platelet morphology;HP:0002094|Dyspnea;HP:0005558|Chronic leukemia;HP:0012378|Fatigue;HP:0000246|Sinusitis;HP:0006535|Recurrent intrapulmonary hemorrhage;HP:0006510|Chronic obstructive pulmonary disease;HP:0000978|Bruising susceptibility;HP:0002960|Autoimmunity;HP:0002037|Inflammation of the large intestine;HP:0001287|Meningitis;HP:0002573|Hematochezia;HP:0100806|Sepsis;HP:0002205|Recurrent respiratory infections;HP:0000967|Petechiae;HP:0100820|Glomerulopathy;HP:0001873|Thrombocytopenia;HP:0005537|Small platelet size;HP:0003010|Prolonged bleeding time;HP:0009830|Peripheral neuropathy;HP:0002248|Hematemesis;HP:0002028|Chronic diarrhea;HP:0000112|Nephropathy;HP:0001888|Lymphopenia;HP:0100774|Hyperostosis;HP:0000778|Hypoplasia of the thymus;HP:0002573|Bloody diarrhea;HP:0000140|Abnormality of the menstrual cycle;HP:0000979|Purpura;HP:0011029|Internal hemorrhage;HP:0200042|Skin ulcer;HP:0001879|Abnormality of eosinophils;HP:0001903|Anemia;HP:0001878|Hemolytic anemia;HP:0002664|Neoplasia;HP:0000388|Otitis media;HP:0002633|Vasculitis;HP:0002664|Neoplasm;HP:0002665|Lymphoma;HP:0007420|Spontaneous hematomas;HP:0000225|Gingival bleeding;HP:0011675|Arrhythmia;HP:0000389|Chronic otitis media;HP:0000498|Blepharitis;HP:0001945|Fever;HP:0000491|Keratitis;HP:0001875|Neutropenia;HP:0001873|Low platelet count;HP:0000421|Epistaxis;HP:0001645|Sudden cardiac death;HP:0002721|Immunodeficiency;HP:0001369|Arthritis;HP:0002488|Acute leukemia;HP:0100749|Chest pain;HP:0001328|Specific learning disability;HP:0000509|Conjunctivitis;HP:0000964|Eczema;HP:0002170|Intracranial hemorrhage;HP:0001935|Microcytic anemia;HP:0011869|Abnormal platelet function
leber congenital amaurosis	HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0001250|Seizures;HP:0004374|Hemiplegia/hemiparesis;HP:0012795|Abnormality of the optic disc;HP:0000518|Cataract;HP:0000563|Keratoconus;HP:0000365|Hearing impairment;HP:0006817|Aplasia/Hypoplasia of the cerebellar vermis;HP:0001141|Severe visual impairment;HP:0002084|Encephalocele;HP:0001252|Muscular hypotonia;HP:0002269|Abnormality of neuronal migration;HP:0007703|Abnormality of retinal pigmentation;HP:0000512|Abnormal electroretinogram;HP:0001249|Intellectual disability
congenital toxoplasmosis	HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0012733|Macule;HP:0000568|Microphthalmia;HP:0100543|Cognitive impairment;HP:0002119|Ventriculomegaly;HP:0000365|Hearing impairment;HP:0002716|Lymphadenopathy;HP:0001873|Thrombocytopenia;HP:0002014|Diarrhea;HP:0001531|Failure to thrive in infancy;HP:0001640|Cardiomegaly;HP:0001511|Intrauterine growth retardation;HP:0000952|Jaundice;HP:0001541|Ascites;HP:0001903|Anemia;HP:0001250|Seizures;HP:0000252|Microcephaly;HP:0002514|Cerebral calcification;HP:0001622|Premature birth;HP:0002240|Hepatomegaly;HP:0007703|Abnormality of retinal pigmentation;HP:0002910|Elevated hepatic transaminases;HP:0000505|Visual impairment;HP:0001252|Muscular hypotonia;HP:0000238|Hydrocephalus
mevalonic aciduria	HP:0001263|Global developmental delay;HP:0001250|Seizures;HP:0001744|Splenomegaly;HP:0001251|Ataxia;HP:0000518|Cataract;HP:0000239|Large fontanelles;HP:0002750|Delayed skeletal maturation;HP:0004322|Short stature;HP:0000252|Microcephaly;HP:0000325|Triangular face;HP:0000368|Low-set, posteriorly rotated ears;HP:0000592|Blue sclerae;HP:0001249|Intellectual disability;HP:0002120|Cerebral cortical atrophy;HP:0001252|Muscular hypotonia;HP:0000268|Dolichocephaly;HP:0000494|Downslanted palpebral fissures
guillain-barre syndrome	HP:0007131|Acute demyelinating polyneuropathy
von hippel-lindau disease	HP:0000639|Nystagmus;HP:0100026|Arteriovenous malformation;HP:0005562|Multiple renal cysts;HP:0100742|Vascular neoplasm;HP:0000518|Cataract;HP:0008046|Abnormality of the retinal vasculature;HP:0000541|Retinal detachment;HP:0000365|Hearing impairment;HP:0100585|Telangiectasia of the skin;HP:0000572|Visual loss;HP:0100659|Abnormality of the cerebral vasculature;HP:0100634|Neuroendocrine neoplasm;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0001251|Ataxia;HP:0005584|Renal cell carcinoma;HP:0002167|Neurological speech impairment;HP:0000822|Hypertension;HP:0002017|Nausea and vomiting;HP:0002516|Increased intracranial pressure;HP:0001737|Pancreatic cysts;HP:0000407|Sensorineural hearing impairment;HP:0004374|Hemiplegia/hemiparesis;HP:0005306|Capillary hemangiomas;HP:0000975|Hyperhidrosis;HP:0000003|Multicystic kidney dysplasia;HP:0002664|Neoplasm;HP:0000763|Sensory neuropathy;HP:0001288|Gait disturbance;HP:0002666|Pheochromocytoma;HP:0000077|Abnormality of the kidney;HP:0100799|Neoplasm of the middle ear;HP:0011675|Arrhythmia;HP:0100761|Visceral angiomatosis;HP:0009711|Retinal hemangioblastoma;HP:0100763|Abnormality of the lymphatic system;HP:0002076|Migraine;HP:0009715|Papillary cystadenoma of the epididymis;HP:0000505|Visual impairment;HP:0000113|Polycystic kidney dysplasia;HP:0001732|Abnormality of the pancreas;HP:0000501|Glaucoma;HP:0000238|Hydrocephalus
niemann-pick disease type c	HP:0001263|Global developmental delay;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0001618|Dysphonia;HP:0001744|Splenomegaly;HP:0001251|Ataxia;HP:0001288|Gait disturbance;HP:0100543|Cognitive impairment;HP:0001337|Tremor;HP:0002015|Dysphagia;HP:0002167|Neurological speech impairment;HP:0007256|Abnormal pyramidal signs;HP:0001332|Dystonia;HP:0010318|Aplasia/Hypoplasia of the abdominal wall musculature;HP:0002376|Developmental regression;HP:0002072|Chorea;HP:0000952|Jaundice;HP:0001541|Ascites;HP:0002240|Hepatomegaly;HP:0002360|Sleep disturbance;HP:0001260|Dysarthria
addison disease	HP:0001587|Primary ovarian failure;HP:0012378|Fatigue;HP:0008226|Androgen insufficiency;HP:0001045|Vitiligo;HP:0001278|Orthostatic hypotension;HP:0030083|Salt craving;HP:0008720|Primary testicular failure;HP:0002019|Constipation;HP:0002027|Abdominal pain;HP:0001824|Weight loss;HP:0002960|Autoimmunity;HP:0002608|Celiac disease;HP:0000953|Hyperpigmentation of the skin;HP:0000848|Increased circulating renin level;HP:0006462|Generalized bone demineralization;HP:0002829|Arthralgia;HP:0002014|Diarrhea;HP:0002215|Sparse axillary hair;HP:0002902|Hyponatremia;HP:0002615|Hypotension;HP:0002017|Nausea and vomiting;HP:0000872|Hashimoto thyroiditis;HP:0001943|Hypoglycemia;HP:0100651|Type I diabetes mellitus;HP:0003154|Increased circulating ACTH level;HP:0001250|Seizures;HP:0010512|Adrenal calcification;HP:0008209|Premature ovarian failure;HP:0100522|Thymoma;HP:0004860|Thiamine-responsive megaloblastic anemia;HP:0001897|Normocytic anemia;HP:0001508|Failure to thrive;HP:0002153|Hyperkalemia;HP:0000823|Delayed puberty;HP:0000835|Adrenal hypoplasia;HP:0002149|Hyperuricemia;HP:0005976|Hyperkalemic metabolic acidosis;HP:0003072|Hypercalcemia;HP:0002321|Vertigo;HP:0000127|Renal salt wasting;HP:0000829|Hypoparathyroidism;HP:0012364|Decreased urinary potassium;HP:0001324|Muscle weakness;HP:0000958|Dry skin;HP:0030018|Decreased female libido;HP:0008207|Primary adrenal insufficiency;HP:0008220|Hypocortisolemia;HP:0002039|Anorexia;HP:0004319|Hypoaldosteronism
hemophilia b	HP:0005261|Joint hemorrhage;HP:0001934|Excessive bleeding after minor trauma;HP:0011858|Reduced factor IX activity;HP:0002239|Gastrointestinal hemorrhage;HP:0040232|Delayed onset bleeding;HP:0003645|Prolonged partial thromboplastin time;HP:0003645|Delayed thromboplastin generation;HP:0003010|Prolonged bleeding time;HP:0005542|Prolonged whole-blood clotting time;HP:0004406|Spontaneous, recurrent epistaxis;HP:0012541|Cephalohematoma;HP:0004846|Prolonged bleeding after surgery;HP:0002758|Osteoarthritis;HP:0001892|Bleeding diathesis;HP:0400008|Menometrorrhagia;HP:0000790|Hematuria;HP:0002170|Intracranial hemorrhage;HP:0006298|Prolonged bleeding after dental extraction;HP:0012233|Intramuscular hematoma;HP:0001058|Poor wound healing
congenital short bowel syndrome	HP:0100627|Displacement of the external urethral meatus;HP:0001006|Hypotrichosis;HP:0100543|Cognitive impairment;HP:0004322|Short stature;HP:0002566|Intestinal malrotation;HP:0100578|Lipoatrophy;HP:0005245|Intestinal hypoplasia
darier disease	HP:0200016|Acral keratosis;HP:0012733|Macule;HP:0011801|Increased size of parotid gland;HP:0001000|Abnormality of skin pigmentation;HP:0200037|Skin vesicle;HP:0001034|Hyperpigmented spots;HP:0008410|Subungual hyperkeratotic fragments;HP:0007302|Bipolar disorder;HP:0010612|Plantar pits;HP:0200016|Acrokeratosis;HP:0000982|Palmoplantar keratoderma;HP:0001250|Seizures;HP:0010610|Palmar pits;HP:0001807|Grooved nails;HP:0001595|Abnormality of the hair;HP:0001597|Abnormality of the nail;HP:0100753|Schizophrenia;HP:0001034|Hypermelanotic macule;HP:0001072|Thickened skin;HP:0000989|Pruritus;HP:0001256|Mild mental retardation;HP:0000989|pruritis;HP:0005212|Anal mucosal leukoplakia
gestational trophoblastic neoplasm	HP:0400008|Menometrorrhagia;HP:0005268|Spontaneous abortion;HP:0011433|High maternal serum chorionic gonadotropin
acrocephalosyndactyly	HP:0000262|Turricephaly;HP:0000470|Short neck;HP:0000003|Multicystic kidney dysplasia;HP:0001363|Craniosynostosis;HP:0001513|Obesity;HP:0002089|Pulmonary hypoplasia;HP:0001539|Omphalocele;HP:0001072|Thickened skin;HP:0000474|Thickened nuchal skin fold;HP:0001080|Biliary tract abnormality;HP:0002240|Hepatomegaly;HP:0001743|Abnormality of the spleen;HP:0001028|Hemangioma
melas	HP:0001012|Multiple lipomas;HP:0010978|Abnormality of immune system physiology;HP:0004322|Short stature;HP:0002354|Memory impairment;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0002204|Pulmonary embolism;HP:0003236|Elevated serum creatine phosphokinase;HP:0002401|Stroke-like episodes;HP:0002578|Gastroparesis;HP:0003287|Abnormality of mitochondrial metabolism;HP:0002024|Malabsorption;HP:0008872|Feeding difficulties in infancy;HP:0002353|EEG abnormality;HP:0002093|Respiratory insufficiency;HP:0011675|Arrhythmia;HP:0000252|Microcephaly;HP:0002230|Generalized hirsutism;HP:0007703|Abnormality of retinal pigmentation;HP:0004326|Cachexia;HP:0012377|Hemianopsia;HP:0001123|Visual field defect;HP:0000100|Nephrotic syndrome;HP:0000716|Depression;HP:0000649|Abnormality of visual evoked potentials;HP:0001252|Muscular hypotonia;HP:0001716|Wolff-Parkinson-White syndrome;HP:0008064|Ichthyosis;HP:0003202|Skeletal muscle atrophy;HP:0000821|Hypothyroidism;HP:0000662|Nyctalopia;HP:0000836|Hyperthyroidism;HP:0000670|Carious teeth;HP:0100543|Cognitive impairment;HP:0001733|Pancreatitis;HP:0000508|Ptosis;HP:0001260|Dysarthria;HP:0001251|Ataxia;HP:0009830|Peripheral neuropathy;HP:0000822|Hypertension;HP:0000164|Abnormality of the teeth;HP:0002120|Cerebral cortical atrophy;HP:0002804|Arthrogryposis multiplex congenita;HP:0002150|Hypercalciuria;HP:0007420|Spontaneous hematomas;HP:0002514|Cerebral calcification;HP:0000648|Optic atrophy;HP:0000829|Hypoparathyroidism;HP:0001324|Muscle weakness;HP:0002750|Delayed skeletal maturation;HP:0008207|Primary adrenal insufficiency;HP:0000212|Gingival overgrowth;HP:0000377|Abnormality of the pinna;HP:0002151|Increased serum lactate;HP:0000091|Abnormality of the renal tubule;HP:0100576|Amaurosis fugax;HP:0012378|Fatigue;HP:0002119|Ventriculomegaly;HP:0002027|Abdominal pain;HP:0001724|Aortic dilatation;HP:0100646|Thyroiditis;HP:0100820|Glomerulopathy;HP:0002167|Neurological speech impairment;HP:0000316|Hypertelorism;HP:0000407|Sensorineural hearing impairment;HP:0000739|Anxiety;HP:0002647|Aortic dissection;HP:0100651|Type I diabetes mellitus;HP:0001250|Seizures;HP:0003457|EMG abnormality;HP:0002169|Clonus;HP:0000823|Delayed puberty;HP:0002069|Generalized tonic-clonic seizures;HP:0002076|Migraine;HP:0000597|Ophthalmoparesis;HP:0000853|Goiter;HP:0001645|Sudden cardiac death;HP:0000505|Visual impairment;HP:0002104|Apnea;HP:0001103|Abnormality of the macula;HP:0003200|Ragged-red muscle fibers;HP:0000518|Cataract;HP:0002019|Constipation;HP:0002637|Cerebral ischemia;HP:0002376|Developmental regression;HP:0000093|Proteinuria;HP:0000083|Renal insufficiency;HP:0001635|Congestive heart failure;HP:0002269|Abnormality of neuronal migration;HP:0003401|Paresthesia;HP:0005214|Intestinal obstruction;HP:0003326|Myalgia;HP:0001053|Hypopigmented skin patches;HP:0001332|Dystonia;HP:0001969|Tubulointerstitial abnormality;HP:0002017|Nausea and vomiting;HP:0001639|Hypertrophic cardiomyopathy;HP:0004372|Reduced consciousness/confusion;HP:0001315|Reduced tendon reflexes;HP:0005978|Type II diabetes mellitus;HP:0000298|Mask-like facies;HP:0003128|Lactic acidosis;HP:0001945|Fever;HP:0003737|Mitochondrial myopathy;HP:0007018|Attention deficit hyperactivity disorder;HP:0000762|Decreased nerve conduction velocity;HP:0000830|Anterior hypopituitarism;HP:0012722|Heart block;HP:0000717|Autism;HP:0000411|Protruding ear;HP:0001337|Tremor;HP:0000738|Hallucinations;HP:0000725|Psychotic episodes;HP:0002092|Pulmonary arterial hypertension;HP:0002381|Aphasia;HP:0002039|Anorexia;HP:0100613|Death in early adulthood
growth hormone insensitivity syndrome	HP:0000239|Large fontanelles;HP:0004322|Short stature;HP:0000873|Diabetes insipidus;HP:0002213|Fine hair;HP:0000365|Hearing impairment;HP:0003124|Hypercholesterolemia;HP:0000592|Bluish sclerae;HP:0003026|shortened long tubular bones;HP:0000232|Everted lower lip vermilion;HP:0000135|Hypogonadism;HP:0008736|Hypoplasia of penis;HP:0001939|Laboratory abnormality;HP:0000855|Insulin resistance;HP:0012569|Delayed menarche;HP:0000684|Delayed eruption of teeth;HP:0001943|Hypoglycemia;HP:0003510|Proportionate dwarfism;HP:0000924|Abnormality of the skeletal system;HP:0005978|Type II diabetes mellitus;HP:0000153|Abnormality of the mouth;HP:0000252|Microcephaly;HP:0002750|Delayed bone maturation;HP:0001999|Abnormal facial shape;HP:0001508|Failure to thrive;HP:0001249|Intellectual disability;HP:0001597|Abnormality of the nail;HP:0002721|Immunodeficiency;HP:0002750|Delayed skeletal maturation;HP:0000819|Diabetes mellitus;HP:0001956|Truncal obesity;HP:0001620|High pitched voice;HP:0000274|Hypoplasia of face;HP:0001367|Anomaly of the joints
glycogen storage disease ia	HP:0002240|Enlarged liver;HP:0000105|Renal enlargement;HP:0000823|Pubertal delay;HP:0000097|focal glomerulosclerosis;HP:0002910|Elevated transaminases;HP:0000093|Proteinuria;HP:0012213|Reduced creatinine clearance;HP:0001997|Gout;HP:0004322|Stature below 3rd percentile;HP:0000295|Doll-like facies;HP:0000822|Hypertension;HP:0001943|Hypoglycemia;HP:0001892|Bleeding diathesis;HP:0001538|Protuberant abdomen;HP:0000991|Xanthomata;HP:0003199|Decreased muscle mass;HP:0002254|Intermittent diarrhea;HP:0001402|Hepatocellular carcinoma;HP:0003128|Lactic acidosis;HP:0001733|Pancreatic inflammation;HP:0003077|Hyperlipidemia;HP:0000939|Osteoporosis;HP:0000787|Renal calculi;HP:0000660|Lipemia retinalis
hodgkin lymphoma	HP:0001871|Abnormality of blood and blood-forming tissues;HP:0002716|Lymphadenopathy;HP:0001744|Splenomegaly;HP:0000975|Hyperhidrosis;HP:0002094|Dyspnea;HP:0001251|Ataxia;HP:0002664|Neoplasm;HP:0002665|Lymphoma;HP:0002721|Immunodeficiency;HP:0012378|Fatigue;HP:0002653|Bone pain;HP:0009830|Peripheral neuropathy;HP:0100749|Chest pain;HP:0001824|Weight loss;HP:0000989|Pruritus;HP:0001945|Fever;HP:0002240|Hepatomegaly;HP:0002105|Hemoptysis;HP:0012735|Cough;HP:0002039|Anorexia;HP:0002315|Headache
small cell carcinoma	HP:0100526|Neoplasm of the lung
cherubism	HP:0012062|Bone cyst;HP:0000520|Proptosis;HP:0000505|Visual impairment;HP:0012802|Broad jaw;HP:0000293|Full cheeks;HP:0000277|Abnormality of the mandible;HP:0001608|Abnormality of the voice;HP:0006482|Abnormality of dental morphology;HP:0000164|Abnormality of the teeth;HP:0002781|Upper airway obstruction;HP:0000648|Optic atrophy;HP:0000529|Progressive visual loss;HP:0000677|Oligodontia;HP:0002870|Obstructive sleep apnea;HP:0008872|Feeding difficulties in infancy
histidinemia	HP:0002167|Speech disorder;HP:0000708|Behavioral problems;HP:0002927|Histidinuria;HP:0010906|Hyperhistidinemia;HP:0001249|Mental retardation
sandhoff disease	HP:0000158|Abnormally large tongue;HP:0001278|Orthostatic hypotension;HP:0000256|Macrocrania;HP:0000365|Hearing impairment;HP:0000020|Bladder incontinence;HP:0002205|Recurrent respiratory infections;HP:0001635|Congestive heart failure;HP:0001251|Ataxia;HP:0000618|Blindness;HP:0002652|Skeletal dysplasia;HP:0002028|Chronic diarrhea;HP:0010729|Cherry red spot of the macula;HP:0000966|Decreased sweating;HP:0002574|Episodic abdominal pain;HP:0001433|Enlarged liver and spleen;HP:0000975|Increased sweating;HP:0001250|Seizures;HP:0006901|Impaired thermal sensitivity;HP:0000256|Macrocephaly;HP:0003202|Neurogenic muscle atrophy, especially in the lower limbs;HP:0000293|Full cheeks;HP:0100022|Abnormality of movement;HP:0001324|Muscular weakness;HP:0002808|Kyphosis;HP:0001508|Failure to thrive;HP:0002240|Hepatomegaly;HP:0007272|Progressive psychomotor deterioration;HP:0002333|Motor deterioration;HP:0001744|Splenomegaly;HP:0002380|Muscle twitch;HP:0000802|Erectile dysfunction;HP:0001347|Hyperreflexia;HP:0001324|Muscle weakness;HP:0010729|Macular cherry red spot;HP:0001640|Increased heart size;HP:0000280|Coarse facial features;HP:0004343|Abnormality of glycosphingolipid metabolism;HP:0001260|Dysarthric speech
proteus syndrome	HP:0001012|Multiple lipomas;HP:0000873|Diabetes insipidus;HP:0000557|Buphthalmos;HP:0002858|Meningioma;HP:0002204|Pulmonary embolism;HP:0001528|Hemihypertrophy;HP:0002564|Malformation of the heart and great vessels;HP:0000276|Long face;HP:0000107|Renal cyst;HP:0003019|Abnormality of the wrist;HP:0001555|Asymmetry of the thorax;HP:0100764|Lymphangioma;HP:0005306|Capillary hemangiomas;HP:0000962|Hyperkeratosis;HP:0003312|Abnormal form of the vertebral bodies;HP:0100521|Neoplasm of the thymus;HP:0002751|Kyphoscoliosis;HP:0000256|Macrocephaly;HP:0007400|Irregular hyperpigmentation;HP:0002230|Generalized hirsutism;HP:0004209|Clinodactyly of the 5th finger;HP:0007703|Abnormality of retinal pigmentation;HP:0003764|Naevus;HP:0001597|Abnormality of the nail;HP:0001744|Splenomegaly;HP:0002753|Thin bony cortex;HP:0004326|Cachexia;HP:0004490|Calvarial hyperostosis;HP:0001072|Thickened skin;HP:0010516|Thymus hyperplasia;HP:0009804|Reduced number of teeth;HP:0000670|Carious teeth;HP:0000520|Proptosis;HP:0006525|Lung segmentation defects;HP:0005465|Excessive growth of facial bones;HP:0010788|Testicular neoplasm;HP:0000545|Myopia;HP:0009594|Retinal hamartoma;HP:0100555|Asymmetric growth;HP:0007483|Depigmentation/hyperpigmentation of skin;HP:0000508|Ptosis;HP:0004490|Hyperostosis of calvarial bones;HP:0100526|Neoplasm of the lung;HP:0006101|Finger syndactyly;HP:0002342|Intellectual disability, moderate;HP:0002652|Skeletal dysplasia;HP:0010566|Hamartoma;HP:0007818|Central heterochromia;HP:0000324|Facial asymmetry;HP:0005595|Generalized hyperkeratosis;HP:0001822|Hallux valgus;HP:0005280|Flat, nasal bridge;HP:0100761|Visceral angiomatosis;HP:0001140|Epibulbar dermoid;HP:0000995|Melanocytic nevus;HP:0001249|Intellectual disability;HP:0008675|Enlarged polycystic ovaries;HP:0010497|Sirenomelia;HP:0100730|Bronchogenic cyst;HP:0007565|Multiple cafe-au-lait spots;HP:0004418|Thrombophlebitis;HP:0000682|Abnormality of dental enamel;HP:0011276|Vascular skin abnormality;HP:0001519|Disproportionate tall stature;HP:0005280|Depressed nasal bridge;HP:0002625|Blood clot in a deep vein;HP:0000369|Low-set ears;HP:0000316|Hypertelorism;HP:0100774|Hyperostosis;HP:0011386|Narrow internal auditory canal;HP:0000494|Downslanted palpebral fissures;HP:0002282|Heterotopia;HP:0007552|Abnormal subcutaneous fat tissue distribution;HP:0001250|Seizures;HP:0003199|Decreased muscle mass;HP:0002650|Scoliosis;HP:0002808|Kyphosis;HP:0100560|Upper limb asymmetry;HP:0000311|Round face;HP:0003416|Spinal canal stenosis;HP:0001363|Craniosynostosis;HP:0001645|Sudden cardiac death;HP:0100777|Exostoses;HP:0000463|Anteverted nares;HP:0002827|Hip dislocation;HP:0000508|Drooping upper eyelid;HP:0007440|Generalized hyperpigmentation;HP:0100026|Arteriovenous malformation;HP:0000518|Cataract;HP:0012032|Lipoma;HP:0000256|Macrocrania;HP:0001482|Subcutaneous nodule;HP:0000464|Abnormality of the neck;HP:0001000|Abnormality of skin pigmentation;HP:0000194|Slack jawed appearance;HP:0002176|Spinal cord compression;HP:0001004|Lymphedema;HP:0003715|Myofibrillar myopathy;HP:0000486|Strabismus;HP:0004472|Mandibular hyperostosis;HP:0000040|Long penis;HP:0002719|Recurrent infections;HP:0002664|Neoplasm;HP:0010508|Metatarsus valgus;HP:0001163|Abnormality of the metacarpal bones;HP:0007403|Thick skin of soles;HP:0004099|Macrodactyly;HP:0009928|Thick nasal alae;HP:0000268|Dolichocephaly;HP:0001028|Strawberry mark;HP:0010816|Epidermal nevus;HP:0100615|Ovarian neoplasm;HP:0012721|Venous malformations;HP:0001167|Abnormality of finger;HP:0000053|Macroorchidism;HP:0000567|Chorioretinal coloboma;HP:0007899|Retinal nonattachment;HP:0001387|Joint stiffness;HP:0000400|Macrotia;HP:0004420|Arterial thrombosis;HP:0000494|Downward slanting palpebral fissures;HP:0100559|Lower limb asymmetry;HP:0000501|Glaucoma;HP:0100006|Neoplasm of the central nervous system
campomelic dysplasia	HP:0000470|Short neck;HP:0000037|Male pseudohermaphroditism;HP:0000520|Proptosis;HP:0006487|Bowing of the long bones;HP:0001601|Laryngomalacia;HP:0004322|Short stature;HP:0008821|Hypoplastic inferior ilia;HP:0000878|11 pairs of ribs;HP:0000365|Hearing impairment;HP:0002119|Ventriculomegaly;HP:0002786|Tracheobronchomalacia;HP:0010781|Skin dimples;HP:0005280|Depressed nasal bridge;HP:0002982|Tibial bowing;HP:0006584|Small abnormally formed scapulae;HP:0000347|Micrognathia;HP:0012368|Flat face;HP:0000126|Hydronephrosis;HP:0000369|Low-set ears;HP:0002564|Malformation of the heart and great vessels;HP:0001762|Talipes equinovarus;HP:0007036|Hypoplasia of olfactory tract;HP:0000316|Hypertelorism;HP:0000774|Narrow chest;HP:0000062|Ambiguous genitalia;HP:0004408|Abnormality of the sense of smell;HP:0002779|Tracheomalacia;HP:0000175|Cleft palate;HP:0002093|Respiratory insufficiency;HP:0000256|Macrocephaly;HP:0002650|Scoliosis;HP:0002757|Recurrent fractures;HP:0002808|Kyphosis;HP:0008477|Poorly ossified cervical vertebrae;HP:0002980|Femoral bowing;HP:0002827|Hip dislocation;HP:0003038|Fibular hypoplasia;HP:0003026|Short long bone
zellweger syndrome	HP:0000157|Abnormality of the tongue;HP:0000028|Cryptorchidism;HP:0000639|Nystagmus;HP:0000518|Cataract;HP:0100543|Cognitive impairment;HP:0004322|Short stature;HP:0001629|Ventricular septal defect;HP:0000474|Thickened nuchal skin fold;HP:0000218|High palate;HP:0005280|Depressed nasal bridge;HP:0001088|Brushfield spots;HP:0000047|Hypospadias;HP:0000582|Upslanted palpebral fissure;HP:0000347|Micrognathia;HP:0012736|Profound global developmental delay;HP:0002652|Skeletal dysplasia;HP:0012368|Flat face;HP:0000126|Hydronephrosis;HP:0000532|Chorioretinal abnormality;HP:0001522|Death in infancy;HP:0000952|Jaundice;HP:0000407|Sensorineural hearing impairment;HP:0001315|Reduced tendon reflexes;HP:0002024|Malabsorption;HP:0008872|Feeding difficulties in infancy;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000003|Multicystic kidney dysplasia;HP:0007957|Corneal opacity;HP:0002093|Respiratory insufficiency;HP:0000256|Macrocephaly;HP:0001399|Hepatic failure;HP:0005469|Flat occiput;HP:0000252|Microcephaly;HP:0000260|Wide anterior fontanel;HP:0000057|Clitoromegaly;HP:0000627|Posterior embryotoxon;HP:0001622|Premature birth;HP:0001508|Failure to thrive;HP:0000648|Optic atrophy;HP:0002240|Hepatomegaly;HP:0000431|Wide nasal bridge;HP:0002021|Pyloric stenosis;HP:0006829|Severe muscular hypotonia;HP:0000505|Visual impairment;HP:0000348|High forehead;HP:0001928|Abnormality of coagulation;HP:0010655|Epiphyseal stippling;HP:0002126|Polymicrogyria;HP:0008207|Primary adrenal insufficiency;HP:0009891|Underdeveloped supraorbital ridges;HP:0008572|External ear malformation;HP:0000501|Glaucoma;HP:0008167|Very long chain fatty acid accumulation
multiple epiphyseal dysplasia	HP:0004322|Short stature;HP:0000545|Myopia;HP:0001850|Abnormality of the tarsal bones;HP:0003103|Abnormal cortical bone morphology;HP:0005930|Abnormality of epiphysis morphology;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0008812|Flattened femoral head;HP:0001156|Brachydactyly syndrome;HP:0012368|Flat face;HP:0001798|Anonychia;HP:0002823|Abnormality of the femur;HP:0000407|Sensorineural hearing impairment;HP:0000478|Abnormality of the eye;HP:0003312|Abnormal form of the vertebral bodies;HP:0011840|Abnormality of T cell physiology;HP:0000311|Round face;HP:0200055|Small hand;HP:0001385|Hip dysplasia;HP:0000504|Abnormality of vision;HP:0001191|Abnormality of the carpal bones;HP:0001387|Joint stiffness;HP:0000463|Anteverted nares;HP:0002750|Delayed skeletal maturation;HP:0002997|Abnormality of the ulna;HP:0100670|Rough bone trabeculation;HP:0000944|Abnormality of the metaphyses;HP:0002983|Micromelia
mycosis fungoides	HP:0010783|Erythema;HP:0200035|Skin plaque;HP:0002665|Lymphoma;HP:0000964|Eczema;HP:0002716|Lymph node hyperplasia;HP:0000989|pruritis;HP:0008069|Neoplasm of the skin
citrullinemia	HP:0001250|Seizures;HP:0002240|Enlarged liver;HP:0001251|Ataxia;HP:0001263|Developmental retardation;HP:0001950|Respiratory alkalosis;HP:0003217|Hyperglutaminemia;HP:0002038|Protein avoidance;HP:0002181|Cerebral edema;HP:0001254|Lethargy;HP:0001259|Coma;HP:0005961|Low blood arginine levels;HP:0001987|Hyperammonemia;HP:0001951|Episodic ammonia intoxication;HP:0003218|Oroticaciduria;HP:0000737|Irritability;HP:0001394|Hepatic cirrhosis;HP:0001508|Weight faltering;HP:0001297|Cerebral vascular events;HP:0002013|Emesis;HP:0001249|Mental retardation
alexander disease	HP:0000639|Nystagmus;HP:0001274|Agenesis of corpus callosum;HP:0000470|Short neck;HP:0100716|Self-injurious behavior;HP:0004481|Progressively abnormally enlarging cranium;HP:0000496|Abnormality of eye movement;HP:0000826|Precocious puberty;HP:0002015|Dysphagia;HP:0007256|Abnormal pyramidal signs;HP:0002019|Constipation;HP:0002376|Loss of developmental milestones;HP:0010628|Facial palsy;HP:0002376|Developmental regression;HP:0000218|High palate;HP:0002072|Chorea;HP:0007162|Diffuse demyelination of the cerebral white matter;HP:0100729|Large face;HP:0001355|Megalencephaly;HP:0002383|Encephalitis;HP:0000508|Ptosis;HP:0001260|Dysarthria;HP:0100247|Recurrent singultus;HP:0001257|Spasticity;HP:0001251|Ataxia;HP:0002007|Frontal bossing;HP:0003307|Hyperlordosis;HP:0002167|Neurological speech impairment;HP:0002615|Hypotension;HP:0000822|Hypertension;HP:0002017|Nausea and vomiting;HP:0007481|Hyperpigmented nevi;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0001618|Dysphonia;HP:0000975|Hyperhidrosis;HP:0002483|Bulbar signs;HP:0001288|Gait disturbance;HP:0000256|Macrocephaly;HP:0002093|Respiratory insufficiency;HP:0002607|Bowel incontinence;HP:0002445|Tetraplegia;HP:0002650|Scoliosis;HP:0002169|Clonus;HP:0000938|Osteopenia;HP:0002514|Cerebral calcification;HP:0002808|Kyphosis;HP:0001508|Failure to thrive;HP:0000651|Diplopia;HP:0000712|Emotional lability;HP:0002360|Sleep disturbance;HP:0001249|Intellectual disability;HP:0002459|Dysautonomia;HP:0002045|Hypothermia;HP:0001645|Sudden cardiac death;HP:0001324|Muscle weakness;HP:0001347|Hyperreflexia;HP:0001337|Tremor;HP:0002357|Dysphasia;HP:0002410|Aqueductal stenosis;HP:0000819|Diabetes mellitus;HP:0000238|Nonsyndromal hydrocephalus;HP:0002922|Increased CSF protein;HP:0000716|Depression;HP:0010535|Sleep apnea;HP:0001252|Muscular hypotonia;HP:0000238|Hydrocephalus;HP:0000821|Hypothyroidism
canavan disease	HP:0002020|Gastroesophageal reflux;HP:0001263|Global developmental delay;HP:0001250|Seizures;HP:0001371|Flexion contracture;HP:0002353|EEG abnormality;HP:0000618|Blindness;HP:0000256|Macrocephaly;HP:0000505|Visual impairment;HP:0100543|Cognitive impairment;HP:0000365|Hearing impairment;HP:0000649|Abnormality of visual evoked potentials;HP:0002376|Developmental regression;HP:0000648|Optic atrophy;HP:0001252|Muscular hypotonia;HP:0004372|Reduced consciousness/confusion;HP:0007703|Abnormality of retinal pigmentation;HP:0001276|Hypertonia;HP:0008872|Feeding difficulties in infancy
focal dermal hypoplasia	HP:0012740|Papilloma;HP:0000894|Short clavicles;HP:0012733|Macule;HP:0000568|Microphthalmia;HP:0000682|Abnormality of dental enamel;HP:0000307|Pointed chin;HP:0100543|Cognitive impairment;HP:0001629|Ventricular septal defect;HP:0000365|Hearing impairment;HP:0001482|Subcutaneous nodule;HP:0001770|Toe syndactyly;HP:0001000|Abnormality of skin pigmentation;HP:0002027|Abdominal pain;HP:0005930|Abnormality of epiphysis morphology;HP:0100585|Telangiectasia of the skin;HP:0001540|Diastasis recti;HP:0007676|Hypoplasia of the iris;HP:0004930|Abnormality of the pulmonary vasculature;HP:0002247|Duodenal atresia;HP:0006554|Acute hepatic failure;HP:0008839|Hypoplastic pelvis;HP:0000963|Thin skin;HP:0000773|Short ribs;HP:0003758|Reduced subcutaneous fat;HP:0001171|Split hand;HP:0008678|Renal hypoplasia/aplasia;HP:0006101|Finger syndactyly;HP:0010783|Erythema;HP:0001537|Umbilical hernia;HP:0000126|Hydronephrosis;HP:0000369|Low-set ears;HP:0000486|Strabismus;HP:0006482|Abnormality of dental morphology;HP:0009124|Abnormality of adipose tissue;HP:0001643|Patent ductus arteriosus;HP:0000164|Abnormality of the teeth;HP:0011847|Giant cell tumor of bone;HP:0009804|Reduced number of teeth;HP:0002414|Spina bifida;HP:0000612|Iris coloboma;HP:0002020|Gastroesophageal reflux;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0000324|Facial asymmetry;HP:0000003|Multicystic kidney dysplasia;HP:0007957|Corneal opacity;HP:0002650|Scoliosis;HP:0001539|Omphalocele;HP:0000370|Abnormality of the middle ear;HP:0100560|Upper limb asymmetry;HP:0000023|Inguinal hernia;HP:0045026|Abnormality of the mediastinum;HP:0000085|Horseshoe kidney;HP:0001597|Abnormality of the nail;HP:0001018|Abnormal palmar dermatoglyphics;HP:0000567|Chorioretinal coloboma;HP:0001083|Ectopia lentis;HP:0001596|Alopecia;HP:0004334|Dermal atrophy;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0010807|Open bite;HP:0100490|Camptodactyly of finger;HP:0001161|Hand polydactyly;HP:0001839|Split foot;HP:0100559|Lower limb asymmetry;HP:0000446|Narrow nasal bridge;HP:0100790|Hernia;HP:0200036|Skin nodule;HP:0100670|Rough bone trabeculation;HP:0001671|Abnormality of the cardiac septa;HP:0000776|Congenital diaphragmatic hernia
congenital diaphragmatic hernia	HP:0000776|Diaphragmatic hernia;HP:0000776|Congenital diaphragmatic hernia
hereditary spherocytosis	HP:0001744|Splenomegaly;HP:0000952|Yellow skin;HP:0002904|High blood bilirubin levels;HP:0004444|Spherocytosis;HP:0001878|Haemolytic anaemia;HP:0001923|Reticulocytosis;HP:0001081|Gallstones
carney complex	HP:0001003|Multiple lentigines;HP:0009588|Vestibular Schwannoma;HP:0100008|Schwannoma;HP:0002331|Recurrent paroxysmal headache;HP:0000845|Growth hormone excess;HP:0010784|Uterine neoplasm;HP:0001676|Palpitations (with pheochromocytoma);HP:0100619|Sertoli cell neoplasm;HP:0010619|Fibroma of the breast;HP:0001635|Congestive heart failure;HP:0012030|Increased urinary cortisol level;HP:0040086|Abnormal prolactin level;HP:0012315|Histiocytoma;HP:0009593|Peripheral Schwannoma;HP:0006748|Adrenal pheochromocytoma;HP:0030431|Osteochondroma;HP:0000147|Polycystic ovaries;HP:0003003|Colon cancer;HP:0006767|Pituitary prolactin cell adenoma;HP:0011043|Abnormality of circulating adrenocorticotropin level;HP:0008225|Thyroid follicular hyperplasia;HP:0100814|Blue nevus;HP:0011760|Pituitary growth hormone cell adenoma;HP:0002893|Pituitary adenoma;HP:0000138|Ovarian cyst;HP:0005587|Profuse pigmented skin lesions;HP:0012126|Stomach cancer;HP:0007832|Pigmentation of the sclera;HP:0003764|Nevus;HP:0001578|Hypercortisolism;HP:0003118|Increased circulating cortisol level;HP:0008675|Enlarged polycystic ovaries;HP:0002890|Thyroid carcinoma;HP:0000957|Cafe-au-lait spot;HP:0001580|Pigmented micronodular adrenocortical disease;HP:0002640|Hypertension associated with pheochromocytoma;HP:0006744|Adrenocortical carcinoma;HP:0012028|Hepatocellular adenoma;HP:0002297|Red hair;HP:0002894|Neoplasm of the pancreas;HP:0001007|Hirsutism;HP:0011672|Cardiac myxoma;HP:0001034|Hypermelanotic macule;HP:0100730|Bronchogenic cyst;HP:0000854|Thyroid adenoma;HP:0002897|Parathyroid adenoma
hypophosphatasia	HP:0001250|Seizures;HP:0003072|Hypercalcemia;HP:0001363|Craniosynostosis;HP:0006487|Bowing of the long bones;HP:0001024|Skin dimple over apex of long bone angulation;HP:0002093|Respiratory insufficiency;HP:0000239|Large fontanelles;HP:0002097|Emphysema;HP:0004322|Short stature;HP:0001903|Anemia;HP:0002757|Recurrent fractures;HP:0001531|Failure to thrive in infancy;HP:0000737|Irritability;HP:0000164|Abnormality of the teeth;HP:0010781|Skin dimples;HP:0000774|Narrow chest;HP:0001252|Muscular hypotonia;HP:0000772|Abnormality of the ribs;HP:0000944|Abnormality of the metaphyses;HP:0008872|Feeding difficulties in infancy
gastroschisis	HP:0011100|Intestinal atresia;HP:0100016|Abnormality of the mesentery;HP:0001543|Gastroschisis
aniridia	HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0000078|Abnormality of the genital system;HP:0000588|Optic nerve coloboma;HP:0000518|Cataract;HP:0007988|Macular hypopigmentation;HP:0012745|Short palpebral fissure;HP:0007759|Cloudy cornea;HP:0001104|Macular hypoplasia;HP:0000508|Ptosis;HP:0000563|Keratoconus;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0001537|Umbilical hernia;HP:0000486|Strabismus;HP:0008053|Aplasia/Hypoplasia of the iris;HP:0200020|Corneal erosion;HP:0007730|Iris hypopigmentation;HP:0000164|Abnormality of the teeth;HP:0000407|Sensorineural hearing impairment;HP:0004408|Abnormality of the sense of smell;HP:0007750|Hypoplasia of the fovea;HP:0000708|Behavioral abnormality;HP:0000526|Absent iris;HP:0000491|Keratitis;HP:0001249|Intellectual disability;HP:0000609|Optic nerve hypoplasia;HP:0000864|Abnormality of the hypothalamus-pituitary axis;HP:0001083|Ectopia lentis;HP:0001097|Keratoconjunctivitis sicca;HP:0000505|Visual impairment;HP:0000613|Photophobia;HP:0011496|Corneal neovascularization;HP:0000501|Glaucoma;HP:0007759|Opacification of the corneal stroma;HP:0000482|Microcornea
wolfram syndrome	HP:0000639|Nystagmus;HP:0002239|Gastrointestinal hemorrhage;HP:0000873|Diabetes insipidus;HP:0002019|Constipation;HP:0003198|Myopathy;HP:0002376|Developmental regression;HP:0002871|Central apnea;HP:0000010|Recurrent urinary tract infections;HP:0000602|Ophthalmoplegia;HP:0001260|Dysarthria;HP:0000135|Hypogonadism;HP:0000079|Abnormality of the urinary system;HP:0001251|Ataxia;HP:0009830|Peripheral neuropathy;HP:0000112|Nephropathy;HP:0002120|Cerebral cortical atrophy;HP:0000407|Sensorineural hearing impairment;HP:0001903|Anemia;HP:0002024|Malabsorption;HP:0008872|Feeding difficulties in infancy;HP:0100518|Dysuria;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0000026|Male hypogonadism;HP:0002093|Respiratory insufficiency;HP:0000726|Dementia;HP:0000648|Optic atrophy;HP:0000823|Delayed puberty;HP:0002360|Sleep disturbance;HP:0001638|Cardiomyopathy;HP:0001249|Intellectual disability;HP:0001959|Polydipsia;HP:0002459|Dysautonomia;HP:0002592|Gastric ulcer;HP:0001387|Joint stiffness;HP:0000819|Diabetes mellitus;HP:0000738|Hallucinations;HP:0100016|Abnormality of the mesentery;HP:0000501|Glaucoma
tangier disease	HP:0008404|Nail dystrophy;HP:0003477|Peripheral axonal neuropathy;HP:0002027|Abdominal pain;HP:0001349|Facial diplegia;HP:0001433|Hepatosplenomegaly;HP:0001873|Thrombocytopenia;HP:0003396|Syringomyelia;HP:0002155|Hypertriglyceridemia;HP:0005145|Coronary artery stenosis;HP:0007133|Progressive peripheral neuropathy;HP:0001903|Anemia;HP:0006901|Impaired thermal sensitivity;HP:0007957|Corneal opacity;HP:0000656|Ectropion;HP:0001712|Left ventricular hypertrophy;HP:0100546|Carotid artery stenosis;HP:0003146|Hypocholesterolemia;HP:0002730|Chronic noninfectious lymphadenopathy;HP:0030814|Orange discoloured tonsils;HP:0000958|Dry skin;HP:0002460|Distal muscle weakness;HP:0004943|Accelerated atherosclerosis
holoprosencephaly	HP:0000028|Cryptorchidism;HP:0009914|Cyclopia;HP:0008501|Medial cleft lip and palate;HP:0000873|Diabetes insipidus;HP:0000437|Depressed nasal tip;HP:0002072|Chorea;HP:0008736|Hypoplasia of penis;HP:0001257|Spasticity;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0000079|Abnormality of the urinary system;HP:0001943|Hypoglycemia;HP:0000871|Panhypopituitarism;HP:0001636|Tetralogy of Fallot;HP:0008872|Feeding difficulties in infancy;HP:0003312|Abnormal form of the vertebral bodies;HP:0002093|Respiratory insufficiency;HP:0000256|Macrocephaly;HP:0011675|Arrhythmia;HP:0000252|Microcephaly;HP:0000835|Hypoplastic adrenal glands;HP:0000528|Anophthalmia;HP:0001883|Talipes;HP:0008501|Median cleft lip and palate;HP:0000819|Diabetes mellitus;HP:0000289|Broad philtrum;HP:0001252|Muscular hypotonia;HP:0009804|Reduced number of teeth;HP:0004409|Hyposmia;HP:0100543|Cognitive impairment;HP:0000929|Abnormality of the skull;HP:0001360|Holoprosencephaly;HP:0100336|Bilateral cleft lip;HP:0000508|Ptosis;HP:0000582|Upslanted palpebral fissure;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0002007|Frontal bossing;HP:0009794|Branchial anomaly;HP:0000612|Iris coloboma;HP:0000286|Epicanthus;HP:0009738|Abnormality of the antihelix;HP:0010301|Spinal dysraphism;HP:0000648|Optic atrophy;HP:0001324|Muscle weakness;HP:0000488|Retinopathy;HP:0002084|Encephalocele;HP:0000238|Hydrocephalus;HP:0000601|Closely spaced eyes;HP:0000776|Congenital diaphragmatic hernia;HP:0001263|Global developmental delay;HP:0011100|Intestinal atresia;HP:0002553|Highly arched eyebrow;HP:0000581|Blepharophimosis;HP:0001629|Ventricular septal defect;HP:0000453|Choanal atresia;HP:0000601|Hypotelorism;HP:0006315|Single median maxillary incisor;HP:0001156|Brachydactyly syndrome;HP:0009924|Aplasia/Hypoplasia involving the nose;HP:0002902|Hyponatremia;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0002020|Gastroesophageal reflux;HP:0001250|Seizures;HP:0000457|Depressed nasal ridge;HP:0005469|Flat occiput;HP:0002650|Scoliosis;HP:0000458|Anosmia;HP:0001641|Abnormality of the pulmonary valve;HP:0001679|Abnormality of the aorta;HP:0001305|Dandy-Walker malformation;HP:0000161|Median cleft lip;HP:0000463|Anteverted nares;HP:0012639|Abnormality of nervous system morphology;HP:0000054|Short penis;HP:0002002|Deep philtrum;HP:0000470|Short neck;HP:0000568|Microphthalmia;HP:0002019|Constipation;HP:0000093|Proteinuria;HP:0002269|Abnormality of neuronal migration;HP:0000490|Deeply set eye;HP:0010302|Spinal cord tumor;HP:0001531|Failure to thrive in infancy;HP:0001332|Dystonia;HP:0100596|Absent nares;HP:0000574|Thick eyebrow;HP:0002006|Tessier facial cleft;HP:0006988|Alobar holoprosencephaly;HP:0001539|Omphalocele;HP:0000664|Synophrys;HP:0001999|Abnormal facial shape;HP:0000830|Anterior hypopituitarism;HP:0000567|Chorioretinal coloboma;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0000400|Macrotia;HP:0001161|Hand polydactyly;HP:0008572|External ear malformation;HP:0001743|Abnormality of the spleen;HP:0010669|Cheekbone underdevelopment
roberts syndrome	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0000470|Short neck;HP:0000520|Proptosis;HP:0006487|Bowing of the long bones;HP:0000568|Microphthalmia;HP:0000518|Cataract;HP:0009943|Complete duplication of thumb phalanx;HP:0000248|Brachycephaly;HP:0000592|Blue sclerae;HP:0008846|Severe intrauterine growth retardation;HP:0000218|High palate;HP:0008897|Postnatal growth retardation;HP:0001156|Brachydactyly syndrome;HP:0007598|Bilateral single transverse palmar creases;HP:0000347|Micrognathia;HP:0006101|Finger syndactyly;HP:0001873|Thrombocytopenia;HP:0002564|Malformation of the heart and great vessels;HP:0000316|Hypertelorism;HP:0000204|Cleft upper lip;HP:0001239|Wrist flexion contracture;HP:0001561|Polyhydramnios;HP:0000040|Long penis;HP:0001852|Sandal gap;HP:0009829|Phocomelia;HP:0005876|Progressive flexion contractures;HP:0005011|Mesomelic arm shortening;HP:0000175|Cleft palate;HP:0002984|Hypoplasia of the radius;HP:0000252|Microcephaly;HP:0000057|Clitoromegaly;HP:0001622|Premature birth;HP:0008070|Sparse hair;HP:0009623|Proximal placement of thumb;HP:0000272|Malar flattening;HP:0004209|Clinodactyly of the 5th finger;HP:0006443|Patellar aplasia;HP:0001249|Intellectual disability;HP:0002974|Radioulnar synostosis;HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0001363|Craniosynostosis;HP:0007452|Midface capillary hemangioma;HP:0009466|Radial deviation of finger;HP:0005048|Synostosis of carpal bones;HP:0006380|Knee flexion contracture;HP:0000113|Polycystic kidney dysplasia;HP:0009891|Underdeveloped supraorbital ridges;HP:0002817|Abnormality of the upper limb;HP:0008572|External ear malformation;HP:0000501|Glaucoma;HP:0000387|Absent earlobe;HP:0000430|Underdeveloped nasal alae
pseudoachondroplasia	HP:0008873|Disproportionate short-limb short stature;HP:0004390|Hamartomatous polyposis;HP:0006487|Bowing of the long bones;HP:0200008|Intestinal polyposis;HP:0005930|Abnormality of epiphysis morphology;HP:0004236|Irregular carpal bones;HP:0003311|Hypoplasia of the odontoid process;HP:0002829|Arthralgia;HP:0002970|Genu varum;HP:0003307|Hyperlordosis;HP:0005692|Joint hyperflexibility;HP:0004279|Short palm;HP:0010049|Short metacarpal;HP:0001773|Short foot;HP:0001288|Gait disturbance;HP:0002650|Scoliosis;HP:0003272|Abnormality of the hip bone;HP:0002758|Osteoarthritis;HP:0002808|Kyphosis;HP:0000926|Platyspondyly;HP:0002857|Genu valgum;HP:0001379|Degenerative joint disease;HP:0002750|Delayed skeletal maturation;HP:0000944|Abnormality of the metaphyses;HP:0002983|Micromelia
sotos syndrome	HP:0001263|Global developmental delay;HP:0000028|Cryptorchidism;HP:0005562|Multiple renal cysts;HP:0010978|Abnormality of immune system physiology;HP:0000826|Precocious puberty;HP:0002119|Ventriculomegaly;HP:0000256|Macrocrania;HP:0000218|High palate;HP:0006288|Advanced eruption of teeth;HP:0000075|Renal duplication;HP:0000047|Hypospadias;HP:0001374|Congenital hip dislocation;HP:0000098|Tall stature;HP:0000347|Micrognathia;HP:0002970|Genu varum;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0000303|Mandibular prognathia;HP:0002007|Frontal bossing;HP:0004375|Neoplasm of the nervous system;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0001943|Hypoglycemia;HP:0000069|Abnormality of the ureter;HP:0001643|Patent ductus arteriosus;HP:0001249|Mental retardation;HP:0000076|Vesicoureteral reflux;HP:0008872|Feeding difficulties in infancy;HP:0000494|Downslanted palpebral fissures;HP:0002353|EEG abnormality;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0002664|Neoplasm;HP:0000457|Depressed nasal ridge;HP:0000256|Macrocephaly;HP:0002650|Scoliosis;HP:0005616|Early bone maturation;HP:0030736|Sacrococcygeal teratoma;HP:0002857|Genu valgum;HP:0000268|Dolichocephaly;HP:0000405|Conductive hearing impairment;HP:0005616|Accelerated skeletal maturation;HP:0001249|Intellectual disability;HP:0000303|Increased size of lower jaw;HP:0001363|Craniosynostosis;HP:0001513|Obesity;HP:0000348|High forehead;HP:0001347|Hyperreflexia;HP:0000463|Anteverted nares;HP:0000098|Increased body height;HP:0000400|Macrotia;HP:0000280|Coarse facial features;HP:0001252|Muscular hypotonia;HP:0011220|Prominent forehead;HP:0001231|Abnormality of the fingernails;HP:0001671|Abnormality of the cardiac septa
down syndrome	HP:0000160|Narrow mouth;HP:0000470|Short neck;HP:0010978|Abnormality of immune system physiology;HP:0002023|Anal atresia;HP:0000518|Cataract;HP:0001006|Hypotrichosis;HP:0003196|Short nose;HP:0000545|Myopia;HP:0000248|Brachycephaly;HP:0000474|Thickened nuchal skin fold;HP:0002251|Aganglionic megacolon;HP:0002376|Developmental regression;HP:0007495|Prematurely aged appearance;HP:0005280|Depressed nasal bridge;HP:0001156|Brachydactyly syndrome;HP:0008678|Renal hypoplasia/aplasia;HP:0000582|Upslanted palpebral fissure;HP:0007598|Bilateral single transverse palmar creases;HP:0012368|Flat face;HP:0001537|Umbilical hernia;HP:0002564|Malformation of the heart and great vessels;HP:0000486|Strabismus;HP:0001852|Sandal gap;HP:0000158|Macroglossia;HP:0100830|Round ear;HP:0000164|Abnormality of the teeth;HP:0000194|Open mouth;HP:0002714|Downturned corners of mouth;HP:0005978|Type II diabetes mellitus;HP:0000286|Epicanthus;HP:0000457|Depressed nasal ridge;HP:0001288|Gait disturbance;HP:0001388|Joint laxity;HP:0100763|Abnormality of the lymphatic system;HP:0004209|Clinodactyly of the 5th finger;HP:0000405|Conductive hearing impairment;HP:0001249|Intellectual disability;HP:0000691|Microdontia;HP:0000179|Thick lower lip vermilion;HP:0001513|Obesity;HP:0006733|Acute megakaryocytic leukemia;HP:0010808|Protruding tongue;HP:0000235|Abnormality of the fontanelles or cranial sutures;HP:0007328|Impaired pain sensation;HP:0001252|Muscular hypotonia;HP:0000189|Narrow palate;HP:0000144|Decreased fertility;HP:0000821|Hypothyroidism
prolidase deficiency	HP:0002211|White forelock;HP:0000670|Carious teeth;HP:0002240|Enlarged liver;HP:0006532|Pneumonia, recurrent episodes;HP:0000520|Proptosis;HP:0003196|Short nose;HP:0002715|Abnormality of the immune system;HP:0000365|Hearing impairment;HP:0001166|Arachnodactyly;HP:0000444|Polly beak nasal deformity;HP:0000316|Increased distance between eye sockets;HP:0006579|Neonatal jaundice;HP:0005280|Depressed nasal bridge;HP:0012786|Recurrent cystitis;HP:0002099|Asthma;HP:0002205|Recurrent respiratory infections;HP:0010783|Erythema;HP:0000963|Thin skin;HP:0000967|Petechiae;HP:0007598|Bilateral single transverse palmar creases;HP:0000347|Micrognathia;HP:0001939|Laboratory abnormality;HP:0000316|Hypertelorism;HP:0200034|Papule;HP:0200042|Skin ulcer;HP:0001903|Anemia;HP:0007473|Crusting erythematous dermatitis;HP:0000982|Palmoplantar keratoderma;HP:0007489|Telangiectases, random body distribution;HP:0000962|Hyperkeratosis;HP:0001999|Facial dysmorphism;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0001263|Developmental retardation;HP:0000457|Depressed nasal ridge;HP:0000294|Low anterior hairline;HP:0005280|Flat, nasal bridge;HP:0003272|Abnormality of the hip bone;HP:0001999|Abnormal facial shape;HP:0002230|Generalized hirsutism;HP:0000370|Abnormality of the middle ear;HP:0002240|Hepatomegaly;HP:0002725|Systemic lupus erythematosus;HP:0002857|Genu valgum;HP:0007703|Abnormality of retinal pigmentation;HP:0001873|Low platelet count;HP:0001249|Intellectual disability;HP:0000520|Anterior bulging of the globe of eye;HP:0002162|Low posterior hair line;HP:0001744|Splenomegaly;HP:0006528|Chronic lung disease;HP:0000505|Visual impairment;HP:0000958|Dry skin;HP:0000992|Cutaneous photosensitivity;HP:0001007|Hirsutism;HP:0000989|Pruritus;HP:0004349|Reduced bone mineral density;HP:0011220|Prominent forehead;HP:0000508|Drooping upper eyelid;HP:0001231|Abnormality of the fingernails;HP:0010669|Cheekbone underdevelopment
ichthyosis vulgaris	HP:0000976|Eczematoid dermatitis;HP:0002099|Asthma;HP:0008064|Ichthyosis
chondrosarcoma	HP:0006765|Chondrosarcoma
seckel syndrome	HP:0000363|Abnormality of earlobe;HP:0000682|Abnormality of dental enamel;HP:0100543|Cognitive impairment;HP:0004322|Short stature;HP:0007495|Prematurely aged appearance;HP:0000347|Micrognathia;HP:0005692|Joint hyperflexibility;HP:0001852|Sandal gap;HP:0001511|Intrauterine growth retardation;HP:0000494|Downslanted palpebral fissures;HP:0000275|Narrow face;HP:0000252|Microcephaly;HP:0002209|Sparse scalp hair;HP:0002650|Scoliosis;HP:0011342|Mild global developmental delay;HP:0004209|Clinodactyly of the 5th finger;HP:0001249|Intellectual disability;HP:0004326|Cachexia;HP:0001385|Hip dysplasia;HP:0001363|Craniosynostosis;HP:0002750|Delayed skeletal maturation;HP:0000444|Convex nasal ridge;HP:0010579|Cone-shaped epiphysis;HP:0009804|Reduced number of teeth;HP:0000501|Glaucoma;HP:0000387|Absent earlobe
costello syndrome	HP:0012740|Papilloma;HP:0000028|Cryptorchidism;HP:0000470|Short neck;HP:0000682|Abnormality of dental enamel;HP:0004322|Short stature;HP:0001629|Ventricular septal defect;HP:0000474|Thickened nuchal skin fold;HP:0005280|Depressed nasal bridge;HP:0002224|Woolly hair;HP:0007477|Abnormal dermatoglyphics;HP:0100729|Large face;HP:0000563|Keratoconus;HP:0000486|Strabismus;HP:0009748|Large earlobe;HP:0005692|Joint hyperflexibility;HP:0001531|Failure to thrive in infancy;HP:0000158|Macroglossia;HP:0000164|Abnormality of the teeth;HP:0009465|Ulnar deviation of finger;HP:0001639|Hypertrophic cardiomyopathy;HP:0002120|Cerebral cortical atrophy;HP:0001642|Pulmonic stenosis;HP:0008872|Feeding difficulties in infancy;HP:0002020|Gastroesophageal reflux;HP:0000962|Hyperkeratosis;HP:0000286|Epicanthus;HP:0000956|Acanthosis nigricans;HP:0000256|Macrocephaly;HP:0001814|Deep-set nails;HP:0000293|Full cheeks;HP:0004690|Thickened Achilles tendon;HP:0000951|Abnormality of the skin;HP:0001598|Concave nail;HP:0001595|Abnormality of the hair;HP:0001249|Intellectual disability;HP:0001800|Hypoplastic toenails;HP:0000179|Thick lower lip vermilion;HP:0001634|Mitral valve prolapse;HP:0001582|Redundant skin;HP:0002750|Delayed skeletal maturation;HP:0100679|Lack of skin elasticity;HP:0000368|Low-set, posteriorly rotated ears;HP:0000280|Coarse facial features;HP:0002033|Poor suck;HP:0000189|Narrow palate;HP:0001231|Abnormality of the fingernails;HP:0007440|Generalized hyperpigmentation;HP:0001561|Polyhydramnios
barth syndrome	HP:0008322|Abnormal mitochondrial morphology;HP:0001644|Dilated cardiomyopathy;HP:0001706|Endocardial fibroelastosis;HP:0001874|Abnormality of neutrophils
acromegaly	HP:0006191|Deep palmar crease;HP:0001061|Acne;HP:0000818|Abnormality of the endocrine system;HP:0012378|Fatigue;HP:0100021|Cerebral palsy;HP:0001176|Large hands;HP:0000445|Wide nose;HP:0000337|Broad forehead;HP:0002829|Arthralgia;HP:0003401|Paresthesia;HP:0000098|Tall stature;HP:0001653|Mitral regurgitation;HP:0000303|Mandibular prognathia;HP:0002007|Frontal bossing;HP:0000276|Long face;HP:0000158|Macroglossia;HP:0000822|Hypertension;HP:0000164|Abnormality of the teeth;HP:0000040|Long penis;HP:0001639|Hypertrophic cardiomyopathy;HP:0001869|Deep plantar creases;HP:0000739|Anxiety;HP:0100786|Hypersomnia;HP:0001609|Hoarse voice;HP:0100607|Dysmenorrhea;HP:0008388|Abnormality of the toenails;HP:0100518|Dysuria;HP:0006767|Pituitary prolactin cell adenoma;HP:0000975|Hyperhidrosis;HP:0100829|Galactorrhea;HP:0012802|Broad jaw;HP:0000080|Abnormality of reproductive system physiology;HP:0000293|Full cheeks;HP:0001386|Joint swelling;HP:0001182|Tapered finger;HP:0000664|Synophrys;HP:0002758|Osteoarthritis;HP:0003859|Cortical diaphyseal thickening of the upper limbs;HP:0002230|Generalized hirsutism;HP:0002808|Kyphosis;HP:0004099|Macrodactyly;HP:0002076|Migraine;HP:0000830|Anterior hypopituitarism;HP:0003416|Spinal canal stenosis;HP:0001769|Broad foot;HP:0000802|Impotence;HP:0001231|Abnormality of the fingernails;HP:0000179|Thick lower lip vermilion;HP:0000819|Diabetes mellitus;HP:0010535|Sleep apnea;HP:0000400|Macrotia;HP:0000687|Widely spaced teeth;HP:0000280|Coarse facial features;HP:0000716|Depression;HP:0001072|Thickened skin;HP:0000956|Acanthosis nigricans;HP:0007440|Generalized hyperpigmentation;HP:0100540|Palpebral edema
baller-gerold syndrome	HP:0000639|Nystagmus;HP:0000160|Narrow mouth;HP:0000520|Proptosis;HP:0006487|Bowing of the long bones;HP:0002023|Anal atresia;HP:0000239|Large fontanelles;HP:0003196|Short nose;HP:0004322|Short stature;HP:0000248|Brachycephaly;HP:0000601|Hypotelorism;HP:0000218|High palate;HP:0000337|Broad forehead;HP:0002669|Osteosarcoma;HP:0001545|Anteriorly placed anus;HP:0001029|Poikiloderma;HP:0000347|Micrognathia;HP:0002007|Frontal bossing;HP:0000126|Hydronephrosis;HP:0000316|Hypertelorism;HP:0001531|Failure to thrive in infancy;HP:0006498|Aplasia/Hypoplasia of the patella;HP:0000069|Abnormality of the ureter;HP:0001511|Intrauterine growth retardation;HP:0000076|Vesicoureteral reflux;HP:0001510|Growth delay;HP:0002024|Malabsorption;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0002665|Lymphoma;HP:0000275|Narrow face;HP:0001163|Abnormality of the metacarpal bones;HP:0002650|Scoliosis;HP:0000244|Brachyturricephaly;HP:0000405|Conductive hearing impairment;HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0000426|Prominent nasal bridge;HP:0006501|Aplasia/Hypoplasia of the radius;HP:0001191|Abnormality of the carpal bones;HP:0100542|Abnormal localization of kidney;HP:0000446|Narrow nasal bridge;HP:0001180|Oligodactyly (hands);HP:0100589|Urogenital fistula;HP:0001671|Abnormality of the cardiac septa
sclerosteosis	HP:0000098|Tall stature;HP:0006101|Finger syndactyly;HP:0011001|Increased bone mineral density;HP:0003103|Abnormal cortical bone morphology;HP:0100798|Fingernail dysplasia;HP:0005019|Diaphyseal thickening;HP:0004493|Craniofacial hyperostosis;HP:0010628|Facial palsy;HP:0000648|Optic atrophy;HP:0009838|Curved distal phalanges of the hand;HP:0000407|Sensorineural hearing impairment;HP:0000366|Abnormality of the nose;HP:0000508|Ptosis;HP:0001233|2-3 finger syndactyly
dengue fever	HP:0002239|Gastrointestinal hemorrhage;HP:0000978|Bruising susceptibility;HP:0002027|Abdominal pain;HP:0002829|Arthralgia;HP:0000967|Petechiae;HP:0001873|Thrombocytopenia;HP:0001882|Leukopenia;HP:0001254|Lethargy;HP:0002014|Diarrhea;HP:0002615|Hypotension;HP:0002017|Nausea and vomiting;HP:0001541|Ascites;HP:0000225|Gingival bleeding;HP:0003075|Hypoproteinemia;HP:0001945|Fever;HP:0002240|Hepatomegaly;HP:0000988|Skin rash;HP:0000421|Epistaxis;HP:0000989|Pruritus;HP:0006543|Cardiorespiratory arrest;HP:0001342|Cerebral hemorrhage;HP:0002315|Headache
sudden infant death syndrome	HP:0005949|Apneic episodes in infancy
congenital adrenal hyperplasia	HP:0000028|Cryptorchidism;HP:0000047|Hypospadias;HP:0010458|Female pseudohermaphroditism;HP:0005616|Accelerated skeletal maturation;HP:0001531|Failure to thrive in infancy;HP:0000822|Hypertension;HP:0001578|Hypercortisolism;HP:0001939|Abnormality of metabolism/homeostasis;HP:0008872|Feeding difficulties in infancy
joubert syndrome	HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0002553|Highly arched eyebrow;HP:0001320|Cerebellar vermis hypoplasia;HP:0000657|Oculomotor apraxia;HP:0002251|Aganglionic megacolon;HP:0002793|Abnormal pattern of respiration;HP:0001696|Situs inversus totalis;HP:0000508|Ptosis;HP:0002269|Abnormality of neuronal migration;HP:0001251|Ataxia;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0000369|Low-set ears;HP:0002564|Malformation of the heart and great vessels;HP:0000276|Long face;HP:0000486|Strabismus;HP:0001829|Foot polydactyly;HP:0000612|Iris coloboma;HP:0008872|Feeding difficulties in infancy;HP:0001250|Seizures;HP:0003312|Abnormal form of the vertebral bodies;HP:0001288|Gait disturbance;HP:0002650|Scoliosis;HP:0001249|Intellectual disability;HP:0000202|Oral cleft;HP:0000426|Prominent nasal bridge;HP:0000864|Abnormality of the hypothalamus-pituitary axis;HP:0001337|Tremor;HP:0000463|Anteverted nares;HP:0002876|Episodic tachypnea;HP:0002126|Polymicrogyria;HP:0004422|Biparietal narrowing;HP:0002084|Encephalocele;HP:0001161|Hand polydactyly;HP:0001252|Muscular hypotonia;HP:0000238|Hydrocephalus;HP:0002104|Apnea
krabbe disease	HP:0001263|Global developmental delay;HP:0000365|Hearing impairment;HP:0001824|Weight loss;HP:0002205|Recurrent respiratory infections;HP:0001257|Spasticity;HP:0001251|Ataxia;HP:0002676|Cloverleaf skull;HP:0009830|Peripheral neuropathy;HP:0001172|Abnormality of the thumb;HP:0010318|Aplasia/Hypoplasia of the abdominal wall musculature;HP:0004374|Hemiplegia/hemiparesis;HP:0000407|Sensorineural hearing impairment;HP:0011968|Feeding difficulties;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0000763|Sensory neuropathy;HP:0001288|Gait disturbance;HP:0003457|EMG abnormality;HP:0001945|Fever;HP:0001939|Abnormality of metabolism/homeostasis;HP:0000505|Visual impairment;HP:0000737|Irritability;HP:0002123|Generalized myoclonic seizures
thanatophoric dysplasia	HP:0008873|Disproportionate short-limb short stature;HP:0011800|Midface retrusion;HP:0000520|Proptosis;HP:0002089|Pulmonary hypoplasia;HP:0002119|Ventriculomegaly;HP:0000365|Hearing impairment;HP:0000238|Hydrocephalus;HP:0005280|Depressed nasal bridge;HP:0001631|Atrial septal defect;HP:0010306|Short thorax;HP:0001156|Brachydactyly syndrome;HP:0002652|Skeletal dysplasia;HP:0002007|Frontal bossing;HP:0002676|Cloverleaf skull;HP:0012368|Flat face;HP:0000369|Low-set ears;HP:0002564|Malformation of the heart and great vessels;HP:0005692|Joint hyperflexibility;HP:0001643|Patent ductus arteriosus;HP:0000774|Narrow chest;HP:0001511|Intrauterine growth retardation;HP:0000494|Downslanted palpebral fissures;HP:0002282|Heterotopia;HP:0100781|Abnormality of the sacroiliac joint;HP:0001250|Seizures;HP:0002093|Respiratory insufficiency;HP:0000256|Macrocephaly;HP:0000077|Abnormality of the kidney;HP:0002808|Kyphosis;HP:0000926|Platyspondyly;HP:0001385|Hip dysplasia;HP:0002867|Abnormality of the ilium;HP:0002187|Intellectual disability, profound;HP:0010880|Increased nuchal translucency;HP:0001582|Redundant skin;HP:0001387|Joint stiffness;HP:0001252|Muscular hypotonia;HP:0000956|Acanthosis nigricans;HP:0000944|Abnormality of the metaphyses;HP:0002983|Micromelia;HP:0001561|Polyhydramnios
usher syndrome	HP:0000639|Nystagmus;HP:0000670|Carious teeth;HP:0000518|Cataract;HP:0000682|Abnormality of dental enamel;HP:0100543|Cognitive impairment;HP:0000545|Myopia;HP:0003198|Myopathy;HP:0000512|Abnormal electroretinogram;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0001251|Ataxia;HP:0000618|Blindness;HP:0011073|Abnormality of dental color;HP:0008499|High-grade hypermetropia;HP:0011025|Abnormality of cardiovascular system physiology;HP:0001639|Hypertrophic cardiomyopathy;HP:0002120|Cerebral cortical atrophy;HP:0000407|Sensorineural hearing impairment;HP:0000739|Anxiety;HP:0003457|EMG abnormality;HP:0000483|Astigmatism;HP:0000709|Psychosis;HP:0000529|Progressive visual loss;HP:0007703|Abnormality of retinal pigmentation;HP:0000144|Decreased fertility;HP:0001751|Vestibular dysfunction;HP:0010780|Hyperacusis;HP:0000691|Microdontia;HP:0000505|Visual impairment;HP:0001123|Visual field defect;HP:0000738|Hallucinations;HP:0000716|Depression;HP:0008568|Vestibular areflexia;HP:0000360|Tinnitus;HP:0000662|Nyctalopia
galactokinase deficiency	HP:0002516|Intracranial pressure elevation;HP:0000518|Cataract;HP:0012023|Galactosuria;HP:0006579|Neonatal jaundice;HP:0004915|Impairment of galactose metabolism;HP:0012024|Hypergalactosemia
catecholaminergic polymorphic ventricular tachycardia	HP:0004756|Ventricular tachycardia;HP:0002321|Vertigo;HP:0001279|Syncope;HP:0001645|Sudden cardiac death
crimean-congo hemorrhagic fever	HP:0002239|Gastrointestinal hemorrhage;HP:0012378|Fatigue;HP:0002027|Abdominal pain;HP:0000967|Petechiae;HP:0003326|Myalgia;HP:0001873|Thrombocytopenia;HP:0001882|Leukopenia;HP:0002014|Diarrhea;HP:0002017|Nausea and vomiting;HP:0100776|Recurrent pharyngitis;HP:0000952|Jaundice;HP:0000554|Uveitis;HP:0000225|Gingival bleeding;HP:0001945|Fever;HP:0001397|Hepatic steatosis;HP:0012735|Cough;HP:0000988|Skin rash;HP:0001892|Abnormal bleeding;HP:0002910|Elevated hepatic transaminases;HP:0000421|Epistaxis;HP:0100749|Chest pain;HP:0006543|Cardiorespiratory arrest;HP:0002315|Headache
retinopathy of prematurity	HP:0001103|Abnormality of the macula;HP:0007917|Tractional retinal detachment;HP:0000618|Blindness;HP:0007902|Vitreous hemorrhage;HP:0001518|Small for gestational age;HP:0008046|Abnormality of the retinal vasculature;HP:0001136|Retinal arteriolar tortuosity;HP:0001622|Premature birth
hereditary coproporphyria	HP:0000963|Thin skin;HP:0000708|Behavioral abnormality;HP:0000998|Hypertrichosis;HP:0001250|Seizures;HP:0002367|Visual hallucinations;HP:0002829|Arthralgia;HP:0003326|Myalgia;HP:0008765|Auditory hallucinations;HP:0008066|Abnormal blistering of the skin;HP:0000992|Cutaneous photosensitivity;HP:0001289|Confusion;HP:0002902|Hyponatremia;HP:0002203|Respiratory paralysis;HP:0002019|Constipation;HP:0000716|Depression;HP:0000737|Irritability;HP:0001034|Hypermelanotic macule;HP:0002017|Nausea and vomiting;HP:0002027|Abdominal pain;HP:0001649|Tachycardia;HP:0000739|Anxiety
hepatoerythropoietic porphyria	HP:0000963|Thin skin;HP:0000992|Cutaneous photosensitivity;HP:0001878|Hemolytic anemia
dravet syndrome	HP:0002353|EEG abnormality;HP:0001263|Global developmental delay;HP:0001250|Seizures;HP:0000708|Behavioral abnormality;HP:0007334|Bilateral convulsive seizures;HP:0001251|Ataxia;HP:0002266|Focal clonic seizures;HP:0000992|Cutaneous photosensitivity;HP:0012758|Neurodevelopmental delay;HP:0001337|Tremor;HP:0011151|Obtundation status;HP:0002384|Focal seizures with impairment of consciousness or awareness;HP:0002373|Febrile seizures;HP:0002121|Absence seizures;HP:0001252|Muscular hypotonia;HP:0002123|Generalized myoclonic seizures;HP:0002197|Generalized seizures
omphalocele	HP:0001539|Omphalocele;HP:0001622|Premature birth
idiopathic intracranial hypertension	HP:0000822|Hypertension;HP:0002516|Intracranial pressure elevation;HP:0001085|Papilledema
fetal alcohol syndrome	HP:0001263|Global developmental delay;HP:0010978|Abnormality of immune system physiology;HP:0000568|Microphthalmia;HP:0003196|Short nose;HP:0004322|Short stature;HP:0100543|Cognitive impairment;HP:0007477|Abnormal dermatoglyphics;HP:0001631|Atrial septal defect;HP:0000508|Ptosis;HP:0000347|Micrognathia;HP:0000506|Telecanthus;HP:0000486|Strabismus;HP:0001511|Intrauterine growth retardation;HP:0100335|Non-midline cleft lip;HP:0000708|Behavioral abnormality;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0000275|Narrow face;HP:0000252|Microcephaly;HP:0000319|Smooth philtrum;HP:0100761|Visceral angiomatosis;HP:0002230|Generalized hirsutism;HP:0001249|Intellectual disability;HP:0000691|Microdontia;HP:0003422|Vertebral segmentation defect;HP:0000219|Thin upper lip vermilion;HP:0001387|Joint stiffness;HP:0000463|Anteverted nares;HP:0004422|Biparietal narrowing;HP:0001328|Specific learning disability;HP:0000368|Low-set, posteriorly rotated ears;HP:0000776|Congenital diaphragmatic hernia
camurati-engelmann disease	HP:0000670|Carious teeth;HP:0000520|Proptosis;HP:0005464|Craniofacial osteosclerosis;HP:0002653|Bone pain;HP:0002818|Abnormality of the radius;HP:0000365|Hearing impairment;HP:0000929|Abnormality of the skull;HP:0001533|Slender build;HP:0010628|Facial palsy;HP:0001376|Limitation of joint mobility;HP:0100255|Metaphyseal dysplasia;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0000135|Hypogonadism;HP:0002673|Coxa valga;HP:0003565|Elevated erythrocyte sedimentation rate;HP:0001251|Ataxia;HP:0002652|Skeletal dysplasia;HP:0002007|Frontal bossing;HP:0001882|Leukopenia;HP:0000016|Urinary retention;HP:0003063|Abnormality of the humerus;HP:0003307|Hyperlordosis;HP:0002167|Neurological speech impairment;HP:0100774|Hyperostosis;HP:0000684|Delayed eruption of teeth;HP:0001639|Hypertrophic cardiomyopathy;HP:0002823|Abnormality of the femur;HP:0003202|Skeletal muscle atrophy;HP:0001903|Anemia;HP:0008872|Feeding difficulties in infancy;HP:0007552|Abnormal subcutaneous fat tissue distribution;HP:0000925|Abnormality of the vertebral column;HP:0000763|Sensory neuropathy;HP:0002997|Abnormality of the ulna;HP:0002650|Scoliosis;HP:0001999|Abnormal facial shape;HP:0002808|Kyphosis;HP:0002992|Abnormality of the tibia;HP:0000648|Optic atrophy;HP:0000823|Delayed puberty;HP:0002240|Hepatomegaly;HP:0002857|Genu valgum;HP:0002515|Waddling gait;HP:0001744|Splenomegaly;HP:0004326|Cachexia;HP:0006501|Aplasia/Hypoplasia of the radius;HP:0007807|Optic nerve compression;HP:0001324|Muscle weakness;HP:0001763|Pes planus;HP:0005791|Cortical thickening of long bone diaphyses;HP:0012544|Elevated aldolase level;HP:0000501|Glaucoma;HP:0002039|Anorexia;HP:0000940|Abnormal diaphysis morphology
farber disease	HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0001601|Laryngomalacia;HP:0004322|Short stature;HP:0001615|Hoarse cry;HP:0001482|Subcutaneous nodule;HP:0002205|Recurrent respiratory infections;HP:0002829|Arthralgia;HP:0002206|Pulmonary fibrosis;HP:0010729|Cherry red spot of the macula;HP:0000478|Abnormality of the eye;HP:0003199|Decreased muscle mass;HP:0007957|Corneal opacity;HP:0002093|Respiratory insufficiency;HP:0001386|Joint swelling;HP:0000939|Osteoporosis;HP:0002808|Kyphosis;HP:0001508|Failure to thrive;HP:0002240|Hepatomegaly;HP:0001249|Intellectual disability;HP:0001744|Splenomegaly;HP:0000504|Abnormality of vision;HP:0001387|Joint stiffness;HP:0007470|Periarticular subcutaneous nodules
ellis van creveld syndrome	HP:0000028|Cryptorchidism;HP:0001830|Posterior polydactyly of foot;HP:0008921|Dwarfism, neonatal short-limbed;HP:0001651|Dextrocardia;HP:0001629|Ventricular septal defect;HP:0000039|Epispadias;HP:0001654|Abnormality of the heart valves;HP:0000072|Hydroureter;HP:0002164|Nail dysplasia;HP:0003026|shortened long tubular bones;HP:0011565|Common atrium;HP:0000233|Thin vermilion border;HP:0010454|Acetabular spurs;HP:0001696|Situs inversus totalis;HP:0001631|Atrial septal defect;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0010306|Short thorax;HP:0000047|Hypospadias;HP:0000968|Ectodermal dysplasia;HP:0008678|Renal hypoplasia/aplasia;HP:0008921|Neonatal short-limb short stature;HP:0002983|Micromelia;HP:0002097|Emphysema;HP:0001241|Capitate-hamate fusion;HP:0000486|Strabismus;HP:0001762|Talipes equinovarus;HP:0006035|Cone-shaped end part of digital bones 2 to 5;HP:0002564|Malformation of the heart and great vessels;HP:0000204|Cleft upper lip;HP:0000190|Abnormality of oral frenula;HP:0000684|Delayed eruption of teeth;HP:0006477|Defect in alveolar ridge;HP:0000069|Abnormality of the ureter;HP:0000164|Abnormality of the teeth;HP:0000668|Hypodontia;HP:0000774|Narrow chest;HP:0000008|Abnormality of female internal genitalia;HP:0000695|Natal teeth;HP:0001511|Intrauterine growth retardation;HP:0001829|Foot polydactyly;HP:0001249|Mental retardation;HP:0001162|Postaxial polydactyly of fingers;HP:0000924|Abnormality of the skeletal system;HP:0001305|Dandy-Walker cyst;HP:0000077|Abnormality of the kidney;HP:0000773|Rib hypoplasia;HP:0000668|Failure of development of between one and six teeth;HP:0000774|Low chest circumference;HP:0001241|Capitate-hamate fusions;HP:0001508|Failure to thrive;HP:0002857|Genu valgum;HP:0000888|Horizontal ribs;HP:0001595|Abnormality of the hair;HP:0001249|Intellectual disability;HP:0001231|Abnormality of the fingernails;HP:0001597|Abnormality of the nail;HP:0001800|Hypoplastic toenails;HP:0011065|Conical incisor;HP:0000691|Microdontia;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0011362|Abnormal hair quantity;HP:0005048|Synostosis of carpal bones;HP:0005561|Abnormality of bone marrow cell morphology;HP:0002967|Cubitus valgus;HP:0002866|Hypoplastic iliac alae;HP:0002488|Acute leukemia;HP:0002750|Delayed skeletal maturation;HP:0006695|Atrioventricular canal defect;HP:0001161|Hand polydactyly;HP:0011830|Abnormality of oral mucosa;HP:0000768|Pectus carinatum;HP:0001631|Atria septal defect;HP:0009882|Short distal phalanx of finger
diastrophic dwarfism	HP:0000028|Cryptorchidism;HP:0011800|Midface retrusion;HP:0006487|Bowing of the long bones;HP:0000365|Hearing impairment;HP:0000592|Blue sclerae;HP:0005930|Abnormality of epiphysis morphology;HP:0001373|Joint dislocation;HP:0005280|Depressed nasal bridge;HP:0000974|Hyperextensible skin;HP:0002205|Recurrent respiratory infections;HP:0008434|Hypoplastic cervical vertebrae;HP:0000347|Micrognathia;HP:0008921|Neonatal short-limb short stature;HP:0009748|Large earlobe;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0009465|Ulnar deviation of finger;HP:0001511|Intrauterine growth retardation;HP:0000772|Abnormality of the ribs;HP:0000396|Overfolded helix;HP:0000889|Abnormality of the clavicle;HP:0000175|Cleft palate;HP:0003312|Abnormal form of the vertebral bodies;HP:0002093|Respiratory insufficiency;HP:0000256|Macrocephaly;HP:0011001|Increased bone mineral density;HP:0000293|Full cheeks;HP:0001163|Abnormality of the metacarpal bones;HP:0002650|Scoliosis;HP:0003042|Elbow dislocation;HP:0100761|Visceral angiomatosis;HP:0002514|Cerebral calcification;HP:0002808|Kyphosis;HP:0009623|Proximal placement of thumb;HP:0001385|Hip dysplasia;HP:0001387|Joint stiffness;HP:0009381|Short finger;HP:0009773|Symphalangism affecting the phalanges of the hand;HP:0100490|Camptodactyly of finger;HP:0000368|Low-set, posteriorly rotated ears;HP:0001252|Muscular hypotonia;HP:0000944|Abnormality of the metaphyses;HP:0002983|Micromelia
thrombotic thrombocytopenic purpura	HP:0001297|Stroke;HP:0002094|Dyspnea;HP:0001923|Reticulocytosis;HP:0002027|Abdominal pain;HP:0012101|Decreased serum creatinine;HP:0001937|Microangiopathic hemolytic anemia;HP:0000093|Proteinuria;HP:0000083|Renal insufficiency;HP:0001873|Thrombocytopenia;HP:0000707|Abnormality of the nervous system;HP:0001289|Confusion;HP:0002014|Diarrhea;HP:0000790|Hematuria;HP:0001250|Seizures;HP:0001658|Myocardial infarction;HP:0045040|Abnormal lactate dehydrogenase activity;HP:0001259|Coma;HP:0011675|Arrhythmia;HP:0001945|Fever;HP:0001919|Acute kidney injury;HP:0003324|Generalized muscle weakness;HP:0002315|Headache
dermatomyositis	HP:0100539|Periorbital edema;HP:0000492|Abnormality of the eyelid;HP:0012378|Fatigue;HP:0002960|Autoimmunity;HP:0100585|Telangiectasia of the skin;HP:0001824|Weight loss;HP:0030078|Lung adenocarcinoma;HP:0002205|Recurrent respiratory infections;HP:0010783|Erythema;HP:0002829|Arthralgia;HP:0100723|Gastrointestinal stroma tumor;HP:0003326|Myalgia;HP:0002206|Pulmonary fibrosis;HP:0000934|Chondrocalcinosis;HP:0200034|Papule;HP:0200042|Skin ulcer;HP:0001879|Abnormality of eosinophils;HP:0008872|Feeding difficulties in infancy;HP:0001618|Dysphonia;HP:0003701|Proximal muscle weakness;HP:0002633|Vasculitis;HP:0002664|Neoplasm;HP:0002093|Respiratory insufficiency;HP:0001658|Myocardial infarction;HP:0002665|Lymphoma;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0001608|Abnormality of the voice;HP:0003457|EMG abnormality;HP:0011675|Arrhythmia;HP:0001945|Fever;HP:0012819|Myocarditis;HP:0001701|Pericarditis;HP:0001597|Abnormality of the nail;HP:0100658|Cellulitis;HP:0011362|Abnormal hair quantity;HP:0000958|Dry skin;HP:0001369|Arthritis;HP:0000992|Cutaneous photosensitivity;HP:0006530|Interstitial pulmonary disease;HP:0000989|Pruritus;HP:0001063|Acrocyanosis;HP:0100758|Gangrene;HP:0001252|Muscular hypotonia;HP:0002092|Pulmonary arterial hypertension;HP:0002207|Diffuse reticular or finely nodular infiltrations;HP:0011703|Sinus tachycardia;HP:0009071|Inflammatory myopathy;HP:0003002|Breast carcinoma;HP:0000969|Edema
otosclerosis	HP:0000362|Otosclerosis;HP:0000405|Conductive hearing loss
creutzfeldt jakob disease	HP:0000605|Supranuclear gaze paralysis;HP:0000505|Poor vision;HP:0007076|Extrapyramidal muscular rigidity;HP:0000738|Sensory hallucination;HP:0001289|Confusion;HP:0000741|Apathy;HP:0000746|Delusions;HP:0002922|Increased CSF protein;HP:0000716|Depression;HP:0001269|Hemiparesis;HP:0002066|Gait ataxia;HP:0000737|Irritability;HP:0000726|Dementia;HP:0005327|Loss of facial expression;HP:0002381|Aphasia;HP:0002354|Memory loss;HP:0000739|Anxiety;HP:0000751|Personality changes;HP:0001336|Myoclonic jerks
abdominal aortic aneurysm	HP:0004953|Abdominal aortic aneurysm
liddle syndrome	HP:0004319|Mineralocorticoid insufficiency;HP:0001324|Muscle weakness;HP:0002900|Hypokalemia;HP:0012378|Fatigue;HP:0011675|Arrhythmia;HP:0002019|Constipation;HP:0000822|Hypertension;HP:0003351|Decreased plasma renin activity;HP:0000112|Nephropathy;HP:0002637|Cerebral ischemia;HP:0001949|Hypokalemic alkalosis;HP:0000083|Renal insufficiency
wolff-parkinson-white syndrome	HP:0001962|Palpitations;HP:0004757|Paroxysmal atrial fibrillation;HP:0001645|Sudden cardiac death;HP:0006684|Ventricular preexcitation with multiple accessory pathways;HP:0001716|Wolff-Parkinson-White syndrome;HP:0006677|Prolonged QRS complex on EKG;HP:0001297|Cerebral vascular events;HP:0004763|Episodic supraventricular tachycardia;HP:0005165|Shortened PR interval on EKG;HP:0001638|Cardiomyopathy
sneddon syndrome	HP:0100576|Amaurosis fugax;HP:0003613|Antiphospholipid antibody positivity;HP:0001268|Mental deterioration;HP:0011276|Vascular skin abnormality;HP:0002354|Memory impairment;HP:0001269|Hemiparesis;HP:0002376|Developmental regression;HP:0002072|Chorea;HP:0100545|Arterial stenosis;HP:0003613|Antiphospholipid antibodies;HP:0000965|Cutis marmorata;HP:0001270|Motor delay;HP:0002381|Aphasia;HP:0000822|Hypertension;HP:0000112|Nephropathy;HP:0001250|Seizures;HP:0000708|Behavioral abnormality;HP:0000965|Livedo reticularis;HP:0002301|Hemiplegia;HP:0002315|Headaches;HP:0000726|Dementia;HP:0001297|Cerebral vascular events;HP:0002076|Migraine;HP:0001727|Thromboembolic stroke;HP:0002321|Vertigo;HP:0001123|Visual field defect;HP:0001324|Muscle weakness;HP:0001337|Tremor;HP:0001260|Dysarthric speech;HP:0002170|Intracranial hemorrhage;HP:0010628|Facial palsy, unilateral or bilateral
erdheim-chester disease	HP:0000639|Nystagmus;HP:0001317|Abnormality of the cerebellum;HP:0000520|Proptosis;HP:0002094|Dyspnea;HP:0002202|Pleural effusion;HP:0010978|Abnormality of immune system physiology;HP:0012378|Fatigue;HP:0002653|Bone pain;HP:0000873|Diabetes insipidus;HP:0002027|Abdominal pain;HP:0001824|Weight loss;HP:0001697|Abnormality of the pericardium;HP:0005930|Abnormality of epiphysis morphology;HP:0002797|Osteolysis;HP:0000508|Ptosis;HP:0001260|Dysarthria;HP:0000083|Renal insufficiency;HP:0001635|Congestive heart failure;HP:0001251|Ataxia;HP:0000126|Hydronephrosis;HP:0002206|Pulmonary fibrosis;HP:0002017|Nausea and vomiting;HP:0003335|Low gonadotropins (secondary hypogonadism);HP:0001903|Anemia;HP:0100518|Dysuria;HP:0002754|Osteomyelitis;HP:0000975|Hyperhidrosis;HP:0011001|Increased bone mineral density;HP:0001646|Abnormality of the aortic valve;HP:0001386|Joint swelling;HP:0001114|Xanthelasma;HP:0001945|Fever;HP:0012735|Cough;HP:0001959|Polydipsia;HP:0000988|Skin rash;HP:0005200|Retroperitoneal fibrosis;HP:0000505|Visual impairment;HP:0001347|Hyperreflexia;HP:0006530|Interstitial pulmonary disease;HP:0010885|Aseptic necrosis;HP:0000944|Abnormality of the metaphyses
van der woude syndrome	HP:0000175|Cleft palate;HP:0010286|Abnormality of the salivary glands;HP:0000204|Cleft upper lip;HP:0000196|Lower lip pit;HP:0000193|Uvula bifida;HP:0000668|Hypodontia;HP:0100267|Lip pit;HP:0000175|Palatoschisis;HP:0000668|Failure of development of between one and six teeth
coffin-lowry syndrome	HP:0100716|Self-injurious behavior;HP:0001633|Abnormality of the mitral valve;HP:0000518|Cataract;HP:0004322|Short stature;HP:0002119|Ventriculomegaly;HP:0001176|Large hands;HP:0000218|High palate;HP:0002868|Narrow iliac wings;HP:0005280|Depressed nasal bridge;HP:0000232|Everted lower lip vermilion;HP:0000767|Pectus excavatum;HP:0000445|Wide nose;HP:0006288|Advanced eruption of teeth;HP:0009193|Pseudoepiphyses of the metacarpals;HP:0001156|Brachydactyly syndrome;HP:0002269|Abnormality of neuronal migration;HP:0001702|Abnormality of the tricuspid valve;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0000154|Wide mouth;HP:0002007|Frontal bossing;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0001500|Broad finger;HP:0000486|Strabismus;HP:0002167|Neurological speech impairment;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0000668|Hypodontia;HP:0006482|Abnormality of dental morphology;HP:0000684|Delayed eruption of teeth;HP:0009882|Short distal phalanx of finger;HP:0002120|Cerebral cortical atrophy;HP:0011344|Severe global developmental delay;HP:0000407|Sensorineural hearing impairment;HP:0000194|Open mouth;HP:0001812|Hyperconvex fingernails;HP:0002191|Progressive spasticity;HP:0001276|Hypertonia;HP:0003202|Skeletal muscle atrophy;HP:0010049|Short metacarpal;HP:0000494|Downslanted palpebral fissures;HP:0008872|Feeding difficulties in infancy;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0003312|Abnormal form of the vertebral bodies;HP:0001288|Gait disturbance;HP:0001646|Abnormality of the aortic valve;HP:0000327|Hypoplasia of the maxilla;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0001182|Tapered finger;HP:0002808|Kyphosis;HP:0004493|Craniofacial hyperostosis;HP:0000648|Optic atrophy;HP:0009928|Thick nasal alae;HP:0007703|Abnormality of retinal pigmentation;HP:0001249|Intellectual disability;HP:0000411|Protruding ear;HP:0000179|Thick lower lip vermilion;HP:0001324|Muscle weakness;HP:0001582|Redundant skin;HP:0002750|Delayed skeletal maturation;HP:0000463|Anteverted nares;HP:0010535|Sleep apnea;HP:0000687|Widely spaced teeth;HP:0000280|Coarse facial features;HP:0001763|Pes planus;HP:0001804|Hypoplastic fingernail;HP:0001252|Muscular hypotonia;HP:0000189|Narrow palate;HP:0000768|Pectus carinatum;HP:0100613|Death in early adulthood;HP:0000940|Abnormal diaphysis morphology
thyroid hypoplasia	HP:0001263|Global developmental delay;HP:0003270|Abdominal distention;HP:0010864|Intellectual disability, severe;HP:0000239|Large fontanelles;HP:0012378|Fatigue;HP:0004322|Short stature;HP:0002019|Constipation;HP:0000158|Macroglossia;HP:0000280|Coarse facial features;HP:0001510|Growth delay;HP:0001252|Muscular hypotonia;HP:0000952|Jaundice;HP:0000821|Hypothyroidism;HP:0005990|Thyroid hypoplasia;HP:0000271|Abnormality of the face
burkitt lymphoma	HP:0000137|Abnormality of the ovary;HP:0002239|Gastrointestinal hemorrhage;HP:0100649|Neoplasm of the oral cavity;HP:0005561|Abnormality of bone marrow cell morphology;HP:0045040|Abnormal lactate dehydrogenase activity;HP:0002027|Abdominal pain;HP:0002017|Nausea and vomiting;HP:0001732|Abnormality of the pancreas;HP:0001392|Abnormality of the liver;HP:0002733|Abnormality of the lymph nodes;HP:0002149|Hyperuricemia;HP:0001743|Abnormality of the spleen;HP:0005214|Intestinal obstruction
friedreich ataxia	HP:0000639|Nystagmus;HP:0001310|Dysmetria;HP:0002015|Dysphagia;HP:0002839|Urinary bladder sphincter dysfunction;HP:0000365|Hearing impairment;HP:0002527|Falls;HP:0002522|Areflexia of lower limbs;HP:0002072|Chorea;HP:0009130|Hand muscle atrophy;HP:0001260|Dysarthria;HP:0003487|Babinski sign;HP:0001257|Spasticity;HP:0007010|Poor fine motor coordination;HP:0002141|Gait imbalance;HP:0010831|Impaired proprioception;HP:0001332|Dystonia;HP:0003431|Decreased motor nerve conduction velocity;HP:0002066|Gait ataxia;HP:0030183|Impaired visually enhanced vestibulo-ocular reflex;HP:0002070|Limb ataxia;HP:0002080|Intention tremor;HP:0002650|Scoliosis;HP:0000648|Optic atrophy;HP:0001760|Abnormality of the foot;HP:0010873|Cervical spinal cord atrophy;HP:0001761|Pes cavus;HP:0001638|Cardiomyopathy;HP:0002540|Inability to walk;HP:0003390|Sensory axonal neuropathy;HP:0001324|Muscle weakness;HP:0000819|Diabetes mellitus;HP:0002546|Incomprehensible speech;HP:0007663|Reduced visual acuity
caffey disease	HP:0006465|Periosteal thickening of long tubular bones;HP:0100963|Hyperesthesia;HP:0000708|Behavioral abnormality;HP:0000520|Proptosis;HP:0000324|Facial asymmetry;HP:0002982|Bowed tibia;HP:0004490|Calvarial hyperostosis;HP:0002093|Respiratory insufficiency;HP:0100658|Cellulitis;HP:0005731|Cortical irregularity;HP:0002650|Scoliosis;HP:0001945|Fever;HP:0005791|Cortical thickening of long bone diaphyses;HP:0010702|Increased antibody level in blood;HP:0004490|Hyperostosis of calvarial bones;HP:0008872|Feeding difficulties in infancy
sjogren-larsson syndrome	HP:0007305|Demyelination in central white matter;HP:0001257|Spasticity;HP:0001250|Seizures;HP:0004322|Stature below 3rd percentile;HP:0001249|Mental retardation;HP:0002942|Thoracic kyphosis;HP:0007727|Superficial corneal opacities;HP:0000608|Macular degeneration;HP:0000613|Extreme light sensitivity;HP:0006297|Hypoplasia of tooth enamel;HP:0008064|Ichthyosis
muir-torre syndrome	HP:0009720|Adenoma sebaceum;HP:0006753|Neoplasm of the stomach;HP:0006758|Malignant genitourinary tract tumor;HP:0004377|Hematological neoplasm;HP:0012114|Endometrial carcinoma;HP:0002896|Neoplasm of the liver;HP:0012118|Laryngeal carcinoma;HP:0008069|Neoplasm of the skin;HP:0009726|Renal neoplasm;HP:0003002|Breast carcinoma;HP:0100684|Salivary gland neoplasm;HP:0003003|Colon cancer
rothmund-thomson syndrome	HP:0002216|Premature graying of hair;HP:0001263|Global developmental delay;HP:0000670|Carious teeth;HP:0002860|Squamous cell carcinoma;HP:0006753|Neoplasm of the stomach;HP:0002110|Bronchiectasis;HP:0008066|Abnormal blistering of the skin;HP:0000535|Sparse eyebrow;HP:0006368|Forearm reduction defects;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0001373|Joint dislocation;HP:0000972|Palmoplantar hyperkeratosis;HP:0001376|Limitation of joint mobility;HP:0000508|Ptosis;HP:0002669|Osteosarcoma;HP:0000135|Hypogonadism;HP:0000563|Keratoconus;HP:0002671|Basal cell carcinoma;HP:0010783|Erythema;HP:0000490|Deeply set eye;HP:0001029|Poikiloderma;HP:0001371|Flexion contracture;HP:0001374|Congenital hip dislocation;HP:0000347|Micrognathia;HP:0002007|Frontal bossing;HP:0000965|Cutis marmorata;HP:0001053|Hypopigmented skin patches;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0000822|Hypertension;HP:0000112|Nephropathy;HP:0000164|Abnormality of the teeth;HP:0002017|Nausea and vomiting;HP:0001120|Abnormality of corneal size;HP:0200042|Skin ulcer;HP:0009804|Reduced number of teeth;HP:0000407|Sensorineural hearing impairment;HP:0002804|Arthrogryposis multiplex congenita;HP:0001903|Anemia;HP:0002024|Malabsorption;HP:0000271|Abnormality of the face;HP:0001510|Growth delay;HP:0000924|Abnormality of the skeletal system;HP:0007759|Opacification of the corneal stroma;HP:0000834|Abnormality of the adrenal glands;HP:0000286|Epicanthus;HP:0000962|Hyperkeratosis;HP:0005107|Abnormality of the sacrum;HP:0002664|Neoplasm;HP:0002665|Lymphoma;HP:0002997|Abnormality of the ulna;HP:0007400|Irregular hyperpigmentation;HP:0001163|Abnormality of the metacarpal bones;HP:0000252|Microcephaly;HP:0000938|Osteopenia;HP:0002650|Scoliosis;HP:0003065|Patellar hypoplasia;HP:0008070|Sparse hair;HP:0001875|Neutropenia;HP:0002021|Pyloric stenosis;HP:0001595|Abnormality of the hair;HP:0000653|Sparse eyelashes;HP:0001249|Intellectual disability;HP:0000202|Oral cleft;HP:0000322|Short philtrum;HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0001363|Craniosynostosis;HP:0006501|Aplasia/Hypoplasia of the radius;HP:0010701|Abnormal immunoglobulin level;HP:0000958|Dry skin;HP:0004334|Dermal atrophy;HP:0000992|Cutaneous photosensitivity;HP:0002863|Myelodysplasia;HP:0002648|Abnormality of calvarial morphology;HP:0001118|Juvenile cataract;HP:0008572|External ear malformation;HP:0000501|Glaucoma;HP:0001231|Abnormality of the fingernails
niemann-pick disease type b	HP:0003233|Low HDL-cholesterol;HP:0002155|Increased triglycerides;HP:0001744|Splenomegaly;HP:0004322|Stature below 3rd percentile;HP:0002094|Dyspnea;HP:0002240|Enlarged liver;HP:0003141|Hyperbetalipoproteinemia;HP:0001103|Macular abnormality;HP:0002205|Frequent respiratory infections;HP:0004333|Bone marrow foam cells;HP:0002207|Diffuse reticular or finely nodular infiltrations;HP:0003609|Foam cells with lamellar inclusion bodies;HP:0001982|Sea-blue histiocytosis
hutchinson-gilford progeria syndrome	HP:0000894|Short clavicles;HP:0004322|Short stature;HP:0004931|Arteriosclerosis of small cerebral arteries;HP:0000347|Micrognathia;HP:0008151|Prolonged prothrombin time;HP:0001894|Thrombocytosis;HP:0010665|Bilateral coxa valga;HP:0001658|Myocardial infarction;HP:0001657|Prolonged QT interval;HP:0001508|Failure to thrive;HP:0004417|Intermittent claudication;HP:0005461|Craniofacial disproportion;HP:0002753|Thin bony cortex;HP:0000789|Infertility;HP:0001596|Alopecia;HP:0004492|Widely patent fontanelles and sutures;HP:0002692|Hypoplastic facial bones;HP:0006224|Tapering pointed ends of distal finger phalanges;HP:0011703|Sinus tachycardia;HP:0000520|Proptosis;HP:0001006|Hypotrichosis;HP:0000347|Hypoplasia of mandible;HP:0007485|Absence of subcutaneous fat;HP:0002164|Nail dysplasia;HP:0000233|Thin vermilion border;HP:0001084|Corneal arcus;HP:0002557|Hypoplastic nipples;HP:0000883|Thin ribs;HP:0000668|Hypodontia;HP:0000822|Hypertension;HP:0000684|Delayed eruption of teeth;HP:0002828|Multiple joint contractures;HP:0000540|Hypermetropia;HP:0001681|Angina pectoris;HP:0004325|Decreased body weight;HP:0002905|Hyperphosphatemia;HP:0001712|Left ventricular hypertrophy;HP:0008230|Decreased testosterone in males;HP:0002797|Increased bone resorption;HP:0001043|Prominent scalp veins;HP:0003355|Aminoaciduria;HP:0001397|Hepatic steatosis;HP:0001249|Intellectual disability;HP:0001596|Hair loss;HP:0003300|Ovoid vertebral bodies;HP:0001097|Keratoconjunctivitis sicca;HP:0001510|Growth deficiency;HP:0008214|Decreased serum estradiol;HP:0000956|Acanthosis nigricans;HP:0002216|Premature graying of hair;HP:0000160|Narrow mouth;HP:0000535|Sparse eyebrow;HP:0011800|Midface, flat;HP:0000961|Cyanosis;HP:0011356|Regional abnormality of skin;HP:0003115|Abnormal EKG;HP:0009906|Aplasia/Hypoplasia of the earlobes;HP:0000407|Sensorineural hearing impairment;HP:0006660|Aplastic clavicles;HP:0000966|Hypohidrosis;HP:0000939|Osteoporosis;HP:0000726|Dementia;HP:0002758|Osteoarthritis;HP:0002808|Kyphosis;HP:0000823|Delayed puberty;HP:0003016|Metaphyseal widening;HP:0002326|Transient ischemic attack;HP:0002827|Hip dislocation;HP:0000765|Abnormality of the thorax;HP:0011220|Prominent forehead;HP:0001611|Nasal speech;HP:0001297|Stroke;HP:0040160|Generalized osteoporosis;HP:0000518|Cataract;HP:0004416|Precocious atherosclerosis;HP:0005181|Premature coronary artery disease;HP:0007427|Reticulated skin pigmentation;HP:0000561|Absent eyelashes;HP:0100671|Abnormal trabecular bone morphology;HP:0000678|Dental crowding;HP:0001635|Congestive heart failure;HP:0000963|Thin skin;HP:0003335|Low gonadotropins (secondary hypogonadism);HP:0100578|Lipoatrophy;HP:0002155|Hypertriglyceridemia;HP:0040113|Old-aged sensorineural hearing impairment;HP:0000877|Insulin-resistant diabetes mellitus at puberty;HP:0001510|Growth delay;HP:0002664|Neoplasm;HP:0000842|Hyperinsulinemia;HP:0000938|Osteopenia;HP:0100546|Carotid artery stenosis;HP:0008070|Sparse hair;HP:0011832|Narrow nasal tip;HP:0008197|Absence of pubertal development;HP:0000272|Depressed malar region;HP:0001816|Thin nail;HP:0001387|Joint stiffness;HP:0100679|Lack of skin elasticity;HP:0000400|Macrotia;HP:0001620|High pitched voice;HP:0000320|Bird-like facies;HP:0002136|Broad-based gait
vogt-koyanagi-harada disease	HP:0002216|Premature graying of hair;HP:0000407|Sensorineural hearing impairment;HP:0000505|Visual impairment;HP:0000518|Cataract;HP:0002290|Poliosis;HP:0001045|Vitiligo;HP:0000541|Retinal detachment;HP:0001053|Hypopigmented skin patches;HP:0002209|Sparse scalp hair;HP:0004322|Short stature;HP:0000499|Abnormality of the eyelashes;HP:0100543|Cognitive impairment;HP:0000501|Glaucoma;HP:0000534|Abnormality of the eyebrow
lipoid proteinosis	HP:0001061|Acne;HP:0002015|Dysphagia;HP:0001482|Subcutaneous nodule;HP:0000218|High palate;HP:0200043|Verrucae;HP:0002205|Recurrent respiratory infections;HP:0001332|Dystonia;HP:0008066|Abnormal blistering of the skin;HP:0001609|Hoarse voice;HP:0200115|Scalp hair loss;HP:0000962|Hyperkeratosis;HP:0001250|Seizures;HP:0100582|Nasal polyposis;HP:0002514|Cerebral calcification;HP:0011830|Abnormality of oral mucosa;HP:0000168|Abnormality of the gingiva;HP:0000179|Thick lower lip vermilion;HP:0000199|Tongue nodules;HP:0001072|Thickened skin;HP:0000171|Microglossia;HP:0200034|Papule;HP:0200039|Pustule;HP:0100699|Scarring
choreoacanthocytosis	HP:0000639|Nystagmus;HP:0100716|Self-injurious behavior;HP:0012086|Abnormal urinary color;HP:0000518|Cataract;HP:0000496|Abnormality of eye movement;HP:0012378|Fatigue;HP:0000183|Difficulty in tongue movements;HP:0004322|Short stature;HP:0100660|Dyskinesia;HP:0002119|Ventriculomegaly;HP:0002027|Abdominal pain;HP:0001824|Weight loss;HP:0002354|Memory impairment;HP:0003198|Myopathy;HP:0002376|Developmental regression;HP:0002072|Chorea;HP:0001260|Dysarthria;HP:0008959|Distal upper limb muscle weakness;HP:0002205|Recurrent respiratory infections;HP:0006554|Acute hepatic failure;HP:0002716|Lymphadenopathy;HP:0100295|Muscle fiber atrophy;HP:0001251|Ataxia;HP:0003236|Elevated serum creatine phosphokinase;HP:0002167|Neurological speech impairment;HP:0009830|Peripheral neuropathy;HP:0001332|Dystonia;HP:0002017|Nausea and vomiting;HP:0002310|Orofacial dyskinesia;HP:0001639|Hypertrophic cardiomyopathy;HP:0002120|Cerebral cortical atrophy;HP:0001541|Ascites;HP:0000739|Anxiety;HP:0002024|Malabsorption;HP:0011968|Feeding difficulties;HP:0000478|Abnormality of the eye;HP:0003110|Abnormality of urine homeostasis;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0003690|Limb muscle weakness;HP:0002633|Vasculitis;HP:0001288|Gait disturbance;HP:0003457|EMG abnormality;HP:0100022|Abnormality of movement;HP:0001284|Areflexia;HP:0007018|Attention deficit hyperactivity disorder;HP:0002240|Hepatomegaly;HP:0001760|Abnormality of the foot;HP:0000820|Abnormality of the thyroid gland;HP:0002360|Sleep disturbance;HP:0001892|Abnormal bleeding;HP:0001927|Acanthocytosis;HP:0001744|Splenomegaly;HP:0002910|Elevated hepatic transaminases;HP:0010526|Dysgraphia;HP:0000504|Abnormality of vision;HP:0008955|Progressive distal muscular atrophy;HP:0001324|Muscle weakness;HP:0001337|Tremor;HP:0010808|Protruding tongue;HP:0001252|Muscular hypotonia;HP:0000980|Pallor;HP:0100613|Death in early adulthood;HP:0001877|Abnormality of erythrocytes
glycogen storage disease ii	HP:0001252|Hypotonia;HP:0003701|Proximal limb muscle weakness;HP:0001744|Splenomegaly;HP:0011400|Abnormal CNS myelination;HP:0002240|Enlarged liver;HP:0002094|Dyspnea;HP:0000158|Abnormally large tongue;HP:0003236|Elevated creatine kinase;HP:0002093|progressive respiratory failure;HP:0001284|Areflexia;HP:0000365|Hearing impairment;HP:0002747|Respiratory distress due to muscle weakness;HP:0001640|Increased heart size;HP:0002205|Frequent respiratory infections;HP:0001945|Fever;HP:0001716|Wolff-Parkinson-White syndrome;HP:0005165|Shortened PR interval on EKG;HP:0004944|Cerebral artery aneurysm;HP:0006597|Paralyzed diaphragm;HP:0003725|Firm muscles
supravalvar aortic stenosis	HP:0004415|Pulmonary artery stenosis;HP:0001642|Pulmonic stenosis;HP:0004381|Supravalvular aortic stenosis;HP:0004928|Peripheral arterial stenosis
nasopharyngeal carcinoma	HP:0002664|Neoplasia
pyoderma gangrenosum	HP:0200039|Pustule;HP:0002829|Arthralgia;HP:0001075|Atrophic scars;HP:0003326|Myalgia;HP:0200037|Skin vesicle;HP:0008066|Abnormal blistering of the skin;HP:0002863|Myelodysplasia;HP:0002037|Inflammation of the large intestine;HP:0001945|Fever;HP:0012324|Myeloid leukemia;HP:0200042|Skin ulcer;HP:0200034|Papule;HP:0001370|Rheumatoid arthritis;HP:0010702|Increased antibody level in blood;HP:0100614|Myositis
lassa fever	HP:0002239|Gastrointestinal hemorrhage;HP:0002202|Pleural effusion;HP:0012378|Fatigue;HP:0000365|Hearing impairment;HP:0001482|Subcutaneous nodule;HP:0002027|Abdominal pain;HP:0400008|Menometrorrhagia;HP:0002829|Arthralgia;HP:0002716|Lymphadenopathy;HP:0003326|Myalgia;HP:0001873|Thrombocytopenia;HP:0001882|Leukopenia;HP:0001254|Lethargy;HP:0002014|Diarrhea;HP:0002516|Increased intracranial pressure;HP:0002017|Nausea and vomiting;HP:0012375|Chemosis;HP:0100776|Recurrent pharyngitis;HP:0001250|Seizures;HP:0005268|Spontaneous abortion;HP:0001945|Fever;HP:0012735|Cough;HP:0000988|Skin rash;HP:0002321|Vertigo;HP:0100749|Chest pain;HP:0000509|Conjunctivitis;HP:0006543|Cardiorespiratory arrest;HP:0002315|Headache;HP:0100540|Palpebral edema
alport syndrome	HP:0006756|Diffuse leiomyomatosis;HP:0002094|Dyspnea;HP:0002013|Vomiting;HP:0000518|Cataract;HP:0012378|Fatigue;HP:0002015|Dysphagia;HP:0000545|Myopia;HP:0001482|Subcutaneous nodule;HP:0001824|Weight loss;HP:0010784|Uterine neoplasm;HP:0007754|Macular dystrophy;HP:0000093|Proteinuria;HP:0011527|Lentiglobus;HP:0000083|Renal insufficiency;HP:0100820|Glomerulopathy;HP:0001873|Thrombocytopenia;HP:0001882|Leukopenia;HP:0011380|Morphological abnormality of the semicircular canal;HP:0000822|Hypertension;HP:0000790|Hematuria;HP:0000407|Sensorineural hearing impairment;HP:0010741|Edema of the lower limbs;HP:0003363|Abdominal situs inversus;HP:0001131|Corneal dystrophy;HP:0100273|Neoplasm of the colon;HP:0000958|Dry skin;HP:0000488|Retinopathy;HP:0000613|Photophobia;HP:0000100|Nephrotic syndrome;HP:0100539|Periorbital edema;HP:0000360|Tinnitus;HP:0000980|Pallor;HP:0002315|Headache
polymyositis	HP:0002239|Gastrointestinal hemorrhage;HP:0004303|Abnormality of muscle fibers;HP:0001633|Abnormality of the mitral valve;HP:0012378|Fatigue;HP:0002019|Constipation;HP:0002027|Abdominal pain;HP:0001824|Weight loss;HP:0001644|Dilated cardiomyopathy;HP:0002960|Autoimmunity;HP:0001635|Congestive heart failure;HP:0002829|Arthralgia;HP:0005150|Abnormal atrioventricular conduction;HP:0003326|Myalgia;HP:0003236|Elevated serum creatine phosphokinase;HP:0002206|Pulmonary fibrosis;HP:0000934|Chondrocalcinosis;HP:0001639|Hypertrophic cardiomyopathy;HP:0001315|Reduced tendon reflexes;HP:0002020|Gastroesophageal reflux;HP:0001618|Dysphonia;HP:0003701|Proximal muscle weakness;HP:0002633|Vasculitis;HP:0001288|Gait disturbance;HP:0001658|Myocardial infarction;HP:0002093|Respiratory insufficiency;HP:0002875|Exertional dyspnea;HP:0004936|Venous thrombosis;HP:0001608|Abnormality of the voice;HP:0003457|EMG abnormality;HP:0011675|Arrhythmia;HP:0001945|Fever;HP:0002240|Hepatomegaly;HP:0012735|Cough;HP:0001701|Pericarditis;HP:0001369|Arthritis;HP:0006530|Interstitial pulmonary disease;HP:0001252|Muscular hypotonia;HP:0012544|Elevated aldolase level;HP:0002039|Anorexia;HP:0000091|Abnormality of the renal tubule;HP:0003002|Breast carcinoma
argininosuccinic aciduria	HP:0002353|EEG abnormality;HP:0005961|Hypoargininemia;HP:0001251|Ataxia;HP:0011362|Abnormal hair quantity;HP:0003217|Hyperglutaminemia;HP:0009886|Trichorrhexis nodosa;HP:0004322|Short stature;HP:0001987|Hyperammonemia;HP:0003218|Oroticaciduria;HP:0003355|Aminoaciduria;HP:0001249|Intellectual disability
pulmonary alveolar microlithiasis	HP:0006520|Progressive pulmonary function impairment;HP:0006514|Intraalveolar nodular calcifications;HP:0002111|Restrictive respiratory insufficiency'
pachyonychia congenita	HP:0001597|Abnormality of the nail;HP:0000670|Carious teeth;HP:0000975|Hyperhidrosis;HP:0008404|Nail dystrophy;HP:0001596|Alopecia;HP:0001805|Thick nail;HP:0000518|Cataract;HP:0002093|Respiratory insufficiency;HP:0100543|Cognitive impairment;HP:0001601|Laryngomalacia;HP:0001798|Anonychia;HP:0002745|Oral leukoplakia;HP:0001131|Corneal dystrophy;HP:0000164|Abnormality of the teeth;HP:0002240|Hepatomegaly;HP:0100643|Abnormality of nail color;HP:0001231|Abnormality of the fingernails;HP:0001595|Abnormality of the hair;HP:0008066|Abnormal blistering of the skin;HP:0000982|Palmoplantar keratoderma;HP:0008064|Ichthyosis
xeroderma pigmentosum	HP:0012740|Papilloma;HP:0000028|Cryptorchidism;HP:0012733|Macule;HP:0000518|Cataract;HP:0001480|Freckling;HP:0012378|Fatigue;HP:0004322|Short stature;HP:0100543|Cognitive impairment;HP:0001059|Pterygium;HP:0000365|Hearing impairment;HP:0100585|Telangiectasia of the skin;HP:0001009|Telangiectasia;HP:0008734|Decreased testicular size;HP:0010649|Flat nasal alae;HP:0002376|Developmental regression;HP:0000135|Hypogonadism;HP:0010783|Erythema;HP:0000963|Thin skin;HP:0001257|Spasticity;HP:0002829|Arthralgia;HP:0001029|Poikiloderma;HP:0001251|Ataxia;HP:0001053|Hypopigmented skin patches;HP:0000486|Strabismus;HP:0009830|Peripheral neuropathy;HP:0000164|Abnormality of the teeth;HP:0002120|Cerebral cortical atrophy;HP:0001315|Reduced tendon reflexes;HP:0000407|Sensorineural hearing impairment;HP:0002861|Melanoma;HP:0002353|EEG abnormality;HP:0000962|Hyperkeratosis;HP:0001250|Seizures;HP:0002071|Abnormality of extrapyramidal motor function;HP:0000524|Conjunctival telangiectasia;HP:0002664|Neoplasm;HP:0000656|Ectropion;HP:0000252|Microcephaly;HP:0003355|Aminoaciduria;HP:0000498|Blepharitis;HP:0001945|Fever;HP:0001508|Failure to thrive;HP:0000648|Optic atrophy;HP:0000491|Keratitis;HP:0004493|Craniofacial hyperostosis;HP:0000995|Melanocytic nevus;HP:0100012|Neoplasm of the eye;HP:0001596|Alopecia;HP:0000958|Dry skin;HP:0004334|Dermal atrophy;HP:0000992|Cutaneous photosensitivity;HP:0002750|Delayed skeletal maturation;HP:0009755|Ankyloblepharon;HP:0000613|Photophobia;HP:0000621|Entropion;HP:0001034|Hypermelanotic macule;HP:0001072|Thickened skin;HP:0006887|Intellectual disability, progressive;HP:0007759|Opacification of the corneal stroma
rift valley fever	HP:0002239|Gastrointestinal hemorrhage;HP:0012378|Fatigue;HP:0000978|Bruising susceptibility;HP:0001824|Weight loss;HP:0001287|Meningitis;HP:0001376|Limitation of joint mobility;HP:0000572|Visual loss;HP:0002383|Encephalitis;HP:0002829|Arthralgia;HP:0003326|Myalgia;HP:0001254|Lethargy;HP:0002014|Diarrhea;HP:0002017|Nausea and vomiting;HP:0012375|Chemosis;HP:0000979|Purpura;HP:0000952|Jaundice;HP:0001250|Seizures;HP:0001396|Cholestasis;HP:0001399|Hepatic failure;HP:0001259|Coma;HP:0000630|Abnormality of retinal arteries;HP:0001945|Fever;HP:0012377|Hemianopsia;HP:0002321|Vertigo;HP:0000575|Scotoma;HP:0000488|Retinopathy;HP:0000613|Photophobia;HP:0000738|Hallucinations;HP:0001695|Cardiac arrest;HP:0002039|Anorexia;HP:0002315|Headache
dermatitis herpetiformis	HP:0010783|Erythema;HP:0001025|Urticaria;HP:0012733|Macule;HP:0200037|Skin vesicle;HP:0002653|Bone pain;HP:0002757|Recurrent fractures;HP:0002960|Autoimmunity;HP:0000989|Pruritus;HP:0000964|Eczema;HP:0100725|Lichenification;HP:0008066|Abnormal blistering of the skin;HP:0002024|Malabsorption;HP:0001935|Microcytic anemia;HP:0000969|Edema
holocarboxylase synthetase deficiency	HP:0001987|Hyperammonemia;HP:0002789|Tachypnea;HP:0001824|Weight loss;HP:0002789|Increased respiratory rate or depth of breathing;HP:0001992|Organic aciduria;HP:0002098|Respiratory distress;HP:0000988|Exanthem;HP:0001251|Ataxia;HP:0001873|Thrombocytopenia;HP:0001254|Lethargy;HP:0002017|Nausea and vomiting;HP:0001276|Hypertonia;HP:0001510|Growth delay;HP:0008872|Feeding difficulties in infancy;HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0001942|Metabolic acidosis;HP:0001263|Developmental retardation;HP:0011127|Perioral eczema;HP:0001259|Coma;HP:0001873|Low platelet count;HP:0001596|Hair loss;HP:0002883|Rapid breathing;HP:0001596|Alopecia;HP:0000737|Irritability;HP:0000964|Eczema;HP:0001252|Muscular hypotonia;HP:0001096|Keratoconjunctivitis;HP:0002013|Emesis;HP:0002039|Anorexia
babesiosis	HP:0012378|Fatigue;HP:0001376|Limitation of joint mobility;HP:0000083|Renal insufficiency;HP:0001635|Congestive heart failure;HP:0002829|Arthralgia;HP:0003326|Myalgia;HP:0001873|Thrombocytopenia;HP:0001882|Leukopenia;HP:0001289|Confusion;HP:0002017|Nausea and vomiting;HP:0100776|Recurrent pharyngitis;HP:0000952|Jaundice;HP:0100724|Hypercoagulability;HP:0002719|Recurrent infections;HP:0001878|Hemolytic anemia;HP:0001864|Clinodactyly of the 5th toe;HP:0000975|Hyperhidrosis;HP:0002093|Respiratory insufficiency;HP:0001658|Myocardial infarction;HP:0001399|Hepatic failure;HP:0004936|Venous thrombosis;HP:0001259|Coma;HP:0001945|Fever;HP:0002240|Hepatomegaly;HP:0012735|Cough;HP:0001744|Splenomegaly;HP:0005521|Disseminated intravascular coagulation;HP:0000613|Photophobia;HP:0000716|Depression;HP:0002039|Anorexia;HP:0002315|Headache
yellow nail syndrome	HP:0100574|Biliary tract neoplasm;HP:0002094|Dyspnea;HP:0002110|Bronchiectasis;HP:0011367|Yellow nails;HP:0000246|Sinusitis;HP:0012384|Rhinitis;HP:0001004|Lymphedema;HP:0002205|Recurrent respiratory infections;HP:0002102|Pleuritis;HP:0100526|Neoplasm of the lung;HP:0000112|Nephropathy;HP:0011354|Generalized abnormality of skin;HP:0008388|Abnormality of the toenails;HP:0002664|Neoplasm;HP:0100797|Toenail dysplasia;HP:0003759|Hypoplasia of lymphatic vessels;HP:0100242|Sarcoma;HP:0009726|Renal neoplasm;HP:0100798|Fingernail dysplasia;HP:0012735|Cough;HP:0002721|Immunodeficiency;HP:0002092|Pulmonary arterial hypertension;HP:0001231|Abnormality of the fingernails;HP:0001806|Onycholysis
turner syndrome	HP:0003186|Inverted nipples;HP:0004322|Short stature;HP:0001045|Vitiligo;HP:0000365|Hearing impairment;HP:0002960|Autoimmunity;HP:0002037|Inflammation of the large intestine;HP:0000218|High palate;HP:0007477|Abnormal dermatoglyphics;HP:0000347|Micrognathia;HP:0006709|Aplasia/Hypoplasia of the nipples;HP:0001812|Hyperconvex fingernails;HP:0002611|Cholestatic liver disease;HP:0000476|Cystic hygroma;HP:0001658|Myocardial infarction;HP:0001657|Prolonged QT interval;HP:0001647|Bicuspid aortic valve;HP:0100625|Enlarged thorax;HP:0004383|Hypoplastic left heart;HP:0000716|Depression;HP:0001231|Abnormality of the fingernails;HP:0000786|Primary amenorrhea;HP:0001395|Hepatic fibrosis;HP:0002608|Celiac disease;HP:0008897|Postnatal growth retardation;HP:0000767|Pectus excavatum;HP:0000508|Ptosis;HP:0001631|Atrial septal defect;HP:0000987|Atypical scarring of skin;HP:0012434|Delayed social development;HP:0001680|Coarctation of aorta;HP:0000465|Webbed neck;HP:0000822|Hypertension;HP:0000872|Hashimoto thyroiditis;HP:0000708|Behavioral abnormality;HP:0000286|Epicanthus;HP:0005113|Dilatation of the aortic arch;HP:0000403|Recurrent otitis media;HP:0001397|Hepatic steatosis;HP:0006610|Wide intermamillary distance;HP:0002705|High, narrow palate;HP:0000995|Melanocytic nevus;HP:0000137|Abnormality of the ovary;HP:0001394|Cirrhosis;HP:0002750|Delayed skeletal maturation;HP:0002613|Biliary cirrhosis;HP:0000471|Gastrointestinal angiodysplasia;HP:0005294|Arterial dissection;HP:0000474|Thickened nuchal skin fold;HP:0009759|Neck pterygia;HP:0010044|Short 4th metacarpal;HP:0000869|Secondary amenorrhea;HP:0000086|Ectopic kidney;HP:0100646|Thyroiditis;HP:0000369|Low-set ears;HP:0000837|Increased circulating gonadotropin level;HP:0009118|Aplasia/Hypoplasia of the mandible;HP:0000739|Anxiety;HP:0002647|Aortic dissection;HP:0001831|Short toe;HP:0002650|Scoliosis;HP:0100805|Precocious menopause;HP:0000939|Osteoporosis;HP:0000823|Delayed puberty;HP:0003764|Nevus;HP:0008356|Combined hyperlipidemia;HP:0000758|Impaired use of nonverbal behaviors;HP:0001800|Hypoplastic toenails;HP:0001385|Hip dysplasia;HP:0004349|Reduced bone mineral density;HP:0000470|Short neck;HP:0008222|Female infertility;HP:0000150|Gonadoblastoma;HP:0001004|Lymphedema;HP:0000486|Strabismus;HP:0001510|Growth delay;HP:0008209|Premature ovarian failure;HP:0000842|Hyperinsulinemia;HP:0000938|Osteopenia;HP:0007018|Attention deficit hyperactivity disorder;HP:0000085|Horseshoe kidney;HP:0002162|Low posterior hairline;HP:0002910|Elevated hepatic transaminases;HP:0001513|Obesity;HP:0012758|Neurodevelopmental delay;HP:0002967|Cubitus valgus;HP:0003492|High urinary gonadotropins (primary hypogonadism)
nephronophthisis	HP:0007703|Abnormality of retinal pigmentation;HP:0001903|Anemia;HP:0000083|Renal insufficiency
aceruloplasminemia	HP:0002354|Memory impairment;HP:0001300|Parkinsonism;HP:0000643|Blepharospasm;HP:0002072|Chorea;HP:0001260|Dysarthria;HP:0007863|Retinal lesions;HP:0000750|Delayed speech and language development;HP:0001635|Congestive heart failure;HP:0001251|Ataxia;HP:0010837|Decreased serum ceruloplasmin;HP:0001276|Hypertonia;HP:0003281|Increased serum ferritin;HP:0000708|Behavioral abnormality;HP:0000473|Torticollis;HP:0000726|Dementia;HP:0004305|Involuntary movements;HP:0005505|Refractory anemia;HP:0012465|Elevated hepatic iron concentration;HP:0001337|Tremor;HP:0000819|Diabetes mellitus;HP:0000716|Depression;HP:0000821|Hypothyroidism
isovaleric acidemia	HP:0001263|Global developmental delay;HP:0001250|Seizures;HP:0001942|Metabolic acidosis
weaver syndrome	HP:0000028|Cryptorchidism;HP:0009466|Radially deviated phalanges;HP:0000316|Increased distance between eye sockets;HP:0008736|Hypoplasia of penis;HP:0001257|Spasticity;HP:0000973|Dermatomegaly;HP:0000347|Micrognathia;HP:0002564|Malformation of the heart and great vessels;HP:0000343|Long philtrum;HP:0001249|Mental retardation;HP:0008872|Feeding difficulties in infancy;HP:0001252|Hypotonia;HP:0009473|Joint contracture of the hand;HP:0000256|Macrocephaly;HP:0000773|Rib hypoplasia;HP:0001350|Slurred speech;HP:0000708|Behavioral problems;HP:0005616|Accelerated skeletal maturation;HP:0001769|Broad foot;HP:0012385|Camptodactyly;HP:0001331|Agenesis of the septum pellucidum;HP:0002866|Hypoplastic iliac alae;HP:0001231|Abnormality of the fingernails;HP:0000311|Round facial shape;HP:0003911|Flared wide portion of long bone of upper arm;HP:0001848|Calcaneovalgus Foot;HP:0002213|Fine hair;HP:0003066|Limited knee extension;HP:0001176|Large hands;HP:0000343|Vertical hyperplasia of philtrum;HP:0000098|Tall stature;HP:0006101|Finger syndactyly;HP:0001762|Talipes equinovarus;HP:0030084|Clinodactyly;HP:0001276|Hypertonia;HP:0000750|Late-onset speech development;HP:0004689|Short 4th long bone of foot;HP:0001263|Developmental retardation;HP:0005280|Flat, nasal bridge;HP:0001537|Umbilical hernias;HP:0000023|Inguinal hernia;HP:0011304|Wide/broad thumb;HP:0001249|Intellectual disability;HP:0000368|Low-set, posteriorly rotated ears;HP:0000944|Abnormality of the metaphyses;HP:0001263|Global developmental delay;HP:0001176|large hand;HP:0001840|Forefoot varus;HP:0000337|Broad forehead;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0001852|Sandal gap;HP:0000494|Downslanted palpebral fissures;HP:0001250|Seizures;HP:0003186|Invaginated nipples;HP:0002834|Flared metaphysis of thigh bone;HP:0000400|Large ears;HP:0001814|Deep-set nails;HP:0002650|Scoliosis;HP:0005616|Early bone maturation;HP:0010300|Abnormally low-pitched voice;HP:0001212|Prominent finger pads;HP:0000311|Round face;HP:0001761|Pes cavus;HP:0000278|Retrognathia;HP:0001800|Hypoplastic toenails;HP:0001582|Redundant skin;HP:0011304|Broad thumb;HP:0001260|Dysarthric speech;HP:0010751|Gelasin of chin;HP:0002002|Deep philtrum;HP:0002673|Coxa valga;HP:0000486|Squint eyes;HP:0200000|Dysharmonic skeletal maturation;HP:0000256|Macrocrania;HP:0000034|Testicular hydrocele;HP:0001540|Diastasis recti;HP:0000286|Palpebronasal fold;HP:0002808|Gibbus deformity;HP:0006956|Lateral ventricle dilatation;HP:0001845|Overriding toes;HP:0001377|Restricted elbow extension;HP:0001609|Hoarse voice;HP:0008070|Thinned hair;HP:0000303|Increased size of lower jaw;HP:0001816|Thin nail;HP:0001387|Joint stiffness;HP:0000400|Macrotia;HP:0100490|Camptodactyly of finger;HP:0000278|Receding lower jaw;HP:0000494|Downward slanting palpebral fissures
mulibrey nanism	HP:0004326|Cachexia;HP:0000256|Macrocephaly;HP:0004322|Short stature;HP:0001315|Reduced tendon reflexes;HP:0001620|High pitched voice;HP:0002680|J-shaped sella turcica;HP:0001511|Intrauterine growth retardation;HP:0002240|Hepatomegaly;HP:0000431|Wide nasal bridge
cystinosis	HP:0002748|Rickets;HP:0002013|Vomiting;HP:0012378|Fatigue;HP:0004322|Short stature;HP:0007256|Abnormal pyramidal signs;HP:0003198|Myopathy;HP:0000093|Proteinuria;HP:0000124|Renal tubular dysfunction;HP:0000083|Renal insufficiency;HP:0001409|Portal hypertension;HP:0000733|Stereotypy;HP:0000112|Nephropathy;HP:0001944|Dehydration;HP:0009806|Nephrogenic diabetes insipidus;HP:0002024|Malabsorption;HP:0100651|Type I diabetes mellitus;HP:0001256|Intellectual disability, mild;HP:0007957|Corneal opacity;HP:0001288|Gait disturbance;HP:0002900|Hypokalemia;HP:0003355|Aminoaciduria;HP:0001945|Fever;HP:0001508|Failure to thrive;HP:0000823|Delayed puberty;HP:0001959|Polydipsia;HP:0000505|Visual impairment;HP:0001324|Muscle weakness;HP:0000488|Retinopathy;HP:0002357|Dysphasia;HP:0000613|Photophobia;HP:0006824|Cranial nerve paralysis;HP:0002148|Hypophosphatemia;HP:0000821|Hypothyroidism
dermatofibrosarcoma protuberans	HP:0010783|Erythema;HP:0100244|Fibrosarcoma;HP:0001482|Subcutaneous nodule;HP:0001072|Thickened skin;HP:0200042|Skin ulcer;HP:0008069|Neoplasm of the skin
fraser syndrome	HP:0000028|Cryptorchidism;HP:0004112|Midline nasal groove;HP:0002089|Pulmonary hypoplasia;HP:0000568|Microphthalmia;HP:0002023|Anal atresia;HP:0000068|Urethral atresia;HP:0002777|Tracheal stenosis;HP:0010720|Abnormal hair pattern;HP:0001126|Cryptophthalmos;HP:0001770|Toe syndactyly;HP:0000218|High palate;HP:0000678|Dental crowding;HP:0005280|Depressed nasal bridge;HP:0008736|Hypoplasia of penis;HP:0000047|Hypospadias;HP:0006101|Finger syndactyly;HP:0000618|Blindness;HP:0002101|Abnormal lung lobation;HP:0001537|Umbilical hernia;HP:0002564|Malformation of the heart and great vessels;HP:0007993|Malformed lacrimal ducts;HP:0001362|Skull defect;HP:0000316|Hypertelorism;HP:0000204|Cleft upper lip;HP:0007925|Lacrimal duct aplasia;HP:0001522|Death in infancy;HP:0003183|Wide pubic symphysis;HP:0010297|Bifid tongue;HP:0000062|Ambiguous genitalia;HP:0001602|Laryngeal stenosis;HP:0000413|Atresia of the external auditory canal;HP:0002025|Anal stenosis;HP:0000148|Vaginal atresia;HP:0000003|Multicystic kidney dysplasia;HP:0003191|Cleft ala nasi;HP:0000252|Microcephaly;HP:0000528|Anophthalmia;HP:0001539|Omphalocele;HP:0000046|Scrotal hypoplasia;HP:0000813|Bicornuate uterus;HP:0002475|Myelomeningocele;HP:0000089|Renal hypoplasia;HP:0000370|Abnormality of the middle ear;HP:0000431|Wide nasal bridge;HP:0000405|Conductive hearing impairment;HP:0001249|Intellectual disability;HP:0000202|Oral cleft;HP:0006610|Wide intermamillary distance;HP:0010458|Female pseudohermaphroditism;HP:0000142|Abnormality of the vagina;HP:0003422|Vertebral segmentation defect;HP:0000368|Low-set, posteriorly rotated ears;HP:0001607|Subglottic stenosis;HP:0002084|Encephalocele;HP:0008572|External ear malformation;HP:0000689|Dental malocclusion;HP:0004397|Ectopic anus;HP:0000430|Underdeveloped nasal alae
maffucci syndrome	HP:0002015|Dysphagia;HP:0002653|Bone pain;HP:0004322|Short stature;HP:0100021|Cerebral palsy;HP:0001482|Subcutaneous nodule;HP:0002797|Osteolysis;HP:0006765|Chondrosarcoma;HP:0100641|Neoplasm of the adrenal cortex;HP:0009592|Astrocytoma;HP:0001510|Growth delay;HP:0002893|Pituitary adenoma;HP:0004936|Venous thrombosis;HP:0002650|Scoliosis;HP:0002757|Recurrent fractures;HP:0005701|Multiple enchondromatosis;HP:0100242|Sarcoma;HP:0100615|Ovarian neoplasm;HP:0007461|Hemangiomatosis;HP:0000853|Goiter;HP:0100777|Exostoses;HP:0100733|Neoplasm of the parathyroid gland;HP:0006824|Cranial nerve paralysis;HP:0003002|Breast carcinoma;HP:0002897|Parathyroid adenoma
hartnup disease	HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0012086|Abnormal urinary color;HP:0004322|Short stature;HP:0002383|Encephalitis;HP:0000712|Emotional instability;HP:0004322|Stature below 3rd percentile;HP:0001251|Ataxia;HP:0001053|Hypopigmented skin patches;HP:0000486|Strabismus;HP:0000206|Glossitis;HP:0000739|Anxiety;HP:0002131|Intermittent cerebellar ataxia;HP:0001276|Hypertonia;HP:0008353|Neutral hyperaminoaciduria;HP:0000478|Abnormality of the eye;HP:0002024|Malabsorption;HP:0000992|Skin photosensitivity;HP:0001250|Seizures;HP:0002353|EEG abnormality;HP:0008066|Abnormal blistering of the skin;HP:0001263|Developmental retardation;HP:0000230|Gingivitis;HP:0007400|Irregular hyperpigmentation;HP:0000709|Psychosis;HP:0000712|Emotional lability;HP:0002076|Migraine;HP:0001249|Intellectual disability;HP:0000988|Skin rash;HP:0000504|Abnormality of vision;HP:0001347|Hyperreflexia;HP:0000992|Cutaneous photosensitivity;HP:0000613|Photophobia;HP:0000738|Hallucinations;HP:0000206|Inflammation of the tongue;HP:0001252|Muscular hypotonia
parathyroid carcinoma	HP:0004398|Peptic ulcer;HP:0000787|Nephrolithiasis;HP:0012378|Fatigue;HP:0002015|Dysphagia;HP:0003165|Elevated circulating parathyroid hormone level;HP:0001733|Pancreatitis;HP:0002653|Bone pain;HP:0002019|Constipation;HP:0010788|Testicular neoplasm;HP:0001824|Weight loss;HP:0012032|Lipoma;HP:0002315|Headache;HP:0000083|Renal insufficiency;HP:0010614|Fibroma;HP:0008696|Renal hamartoma;HP:0000107|Renal cyst;HP:0000934|Chondrocalcinosis;HP:0002017|Nausea and vomiting;HP:0002574|Episodic abdominal pain;HP:0008200|Primary hyperparathyroidism;HP:0006725|Pancreatic adenocarcinoma;HP:0001609|Hoarse voice;HP:0200025|Mandibular pain;HP:0011766|Abnormality of the parathyroid morphology;HP:0002150|Hypercalciuria;HP:0002667|Nephroblastoma;HP:0000121|Nephrocalcinosis;HP:0000939|Osteoporosis;HP:0008250|Infantile hypercalcemia;HP:0000131|Uterine leiomyoma;HP:0001959|Polydipsia;HP:0002890|Thyroid carcinoma;HP:0003072|Hypercalcemia;HP:0006780|Parathyroid carcinoma;HP:0001324|Muscle weakness;HP:0012232|Shortened QT interval;HP:0002148|Hypophosphatemia
galloway-mowat syndrome	HP:0001263|Global developmental delay;HP:0010978|Abnormality of immune system physiology;HP:0100543|Cognitive impairment;HP:0004322|Short stature;HP:0000601|Hypotelorism;HP:0000093|Proteinuria;HP:0002269|Abnormality of neuronal migration;HP:0000347|Micrognathia;HP:0000316|Hypertelorism;HP:0000112|Nephropathy;HP:0000164|Abnormality of the teeth;HP:0001511|Intrauterine growth retardation;HP:0004374|Hemiplegia/hemiparesis;HP:0005108|Abnormality of the intervertebral disk;HP:0001302|Pachygyria;HP:0001276|Hypertonia;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0000252|Microcephaly;HP:0001181|Adducted thumb;HP:0001622|Premature birth;HP:0100720|Hypoplasia of the ear cartilage;HP:0002410|Aqueductal stenosis;HP:0000100|Nephrotic syndrome;HP:0000400|Macrotia;HP:0100490|Camptodactyly of finger;HP:0001252|Muscular hypotonia;HP:0002036|Hiatus hernia
medulloblastoma	HP:0001263|Global developmental delay;HP:0001310|Dysmetria;HP:0008619|Bilateral sensorineural hearing impairment;HP:0100543|Cognitive impairment;HP:0002350|Cerebellar cyst;HP:0100526|Neoplasm of the lung;HP:0001251|Ataxia;HP:0011695|Cerebellar hemorrhage;HP:0002885|Medulloblastoma;HP:0010302|Spinal cord tumor;HP:0001254|Lethargy;HP:0001291|Abnormality of the cranial nerves;HP:0002516|Increased intracranial pressure;HP:0002017|Nausea and vomiting;HP:0005227|Adenomatous colonic polyposis;HP:0002073|Progressive cerebellar ataxia;HP:0003418|Back pain;HP:0002080|Intention tremor;HP:0004481|Progressive macrocephaly;HP:0012658|Abnormal brain FDG positron emission tomography;HP:0000651|Diplopia;HP:0000529|Progressive visual loss;HP:0009878|Cerebellar ataxia associated with quadrupedal gait;HP:0002910|Elevated hepatic transaminases;HP:0002321|Vertigo;HP:0003006|Neuroblastoma;HP:0005561|Abnormality of bone marrow cell morphology;HP:0007129|Cerebellar medulloblastoma;HP:0000737|Irritability;HP:0007824|Total ophthalmoplegia;HP:0007352|Cerebellar calcifications;HP:0000238|Hydrocephalus;HP:0002315|Headache;HP:0000270|Delayed cranial suture closure
whim syndrome	HP:0004315|IgG deficiency;HP:0004313|Decreased immunoglobulin level;HP:0000055|Abnormality of female external genitalia;HP:0002718|Recurrent pyogenic infections;HP:0005561|Abnormality of bone marrow cell morphology;HP:0002110|Bronchiectasis;HP:0001875|Neutropenia;HP:0000008|Abnormality of female internal genitalia;HP:0002788|Recurrent upper respiratory infection;HP:0200043|Verrucae
acrodysostosis	HP:0000028|Cryptorchidism;HP:0011800|Midface retrusion;HP:0010978|Abnormality of immune system physiology;HP:0003196|Short nose;HP:0010230|Cone-shaped epiphyses of the phalanges of the hand;HP:0002818|Abnormality of the radius;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0000248|Brachycephaly;HP:0005280|Depressed nasal bridge;HP:0000135|Hypogonadism;HP:0001156|Brachydactyly syndrome;HP:0000303|Mandibular prognathia;HP:0008843|Hip osteoarthritis;HP:0009830|Peripheral neuropathy;HP:0000316|Hypertelorism;HP:0000684|Delayed eruption of teeth;HP:0000194|Open mouth;HP:0000858|Menstrual irregularities;HP:0010049|Short metacarpal;HP:0003022|Hypoplasia of the ulna;HP:0001831|Short toe;HP:0000286|Epicanthus;HP:0003312|Abnormal form of the vertebral bodies;HP:0000457|Depressed nasal ridge;HP:0002984|Hypoplasia of the radius;HP:0000327|Hypoplasia of the maxilla;HP:0001163|Abnormality of the metacarpal bones;HP:0000431|Wide nasal bridge;HP:0003416|Spinal canal stenosis;HP:0005616|Accelerated skeletal maturation;HP:0001249|Intellectual disability;HP:0000995|Melanocytic nevus;HP:0001597|Abnormality of the nail;HP:0010743|Short metatarsal;HP:0009803|Hypoplastic/small phalanges of the hand;HP:0010655|Epiphyseal stippling;HP:0010807|Open bite;HP:0000463|Anteverted nares;HP:0010579|Cone-shaped epiphysis;HP:0002997|Abnormality of the ulna;HP:0000055|Abnormality of female external genitalia;HP:0002983|Micromelia
carnitine palmitoyltransferase ii deficiency	HP:0001250|Seizures;HP:0002910|Elevated hepatic transaminases;HP:0003326|Myalgia;HP:0000003|Multicystic kidney dysplasia;HP:0001645|Sudden cardiac death;HP:0001324|Muscle weakness;HP:0000077|Abnormality of the kidney;HP:0001259|Coma;HP:0011675|Arrhythmia;HP:0012071|Abnormality of acetylcarnitine metabolism;HP:0001943|Hypoglycemia;HP:0002514|Cerebral calcification;HP:0003198|Myopathy;HP:0004372|Reduced consciousness/confusion;HP:0010964|Abnormality of long-chain fatty-acid metabolism;HP:0002240|Hepatomegaly;HP:0012639|Abnormality of nervous system morphology;HP:0002383|Encephalitis;HP:0001638|Cardiomyopathy;HP:0000083|Renal insufficiency
succinic semialdehyde dehydrogenase deficiency	HP:0001263|Global developmental delay;HP:0000708|Behavioral abnormality;HP:0001251|Ataxia;HP:0002133|Status epilepticus;HP:0001252|Muscular hypotonia;HP:0002123|Generalized myoclonic seizures;HP:0002069|Generalized tonic-clonic seizures;HP:0001939|Abnormality of metabolism/homeostasis;HP:0001249|Intellectual disability
craniopharyngioma	HP:0001263|Global developmental delay;HP:0003508|Proportionate short stature;HP:0000863|Central diabetes insipidus;HP:0430000|Abnormality of the frontal bone;HP:0000365|Hearing impairment;HP:0007987|Progressive visual field defects;HP:0002637|Cerebral ischemia;HP:0012286|Abnormal hypothalamus morphology;HP:0008897|Postnatal growth retardation;HP:0001117|Sudden loss of visual acuity;HP:0001262|Excessive daytime somnolence;HP:0000135|Hypogonadism;HP:0012505|Enlarged pituitary gland;HP:0010576|Intracranial cystic lesion;HP:0002591|Polyphagia;HP:0040075|Hypopituitarism;HP:0002516|Increased intracranial pressure;HP:0002017|Nausea and vomiting;HP:0002659|Increased susceptibility to fractures;HP:0003335|Low gonadotropins (secondary hypogonadism);HP:0002719|Recurrent infections;HP:0001510|Growth delay;HP:0010939|Abnormality of the nasal bone;HP:0005978|Type II diabetes mellitus;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0001658|Myocardial infarction;HP:0001259|Coma;HP:0002514|Cerebral calcification;HP:0000648|Optic atrophy;HP:0030588|Abnormal visual field test;HP:0000823|Delayed puberty;HP:0002360|Sleep disturbance;HP:0001249|Intellectual disability;HP:0001085|Papilledema;HP:0011750|Neoplasm of the anterior pituitary;HP:0000870|Prolactin excess;HP:0001513|Obesity;HP:0002321|Vertigo;HP:0007924|Slow decrease in visual acuity;HP:0010535|Sleep apnea;HP:0000238|Hydrocephalus;HP:0030521|Bitemporal hemianopia;HP:0002315|Headache;HP:0008245|Pituitary hypothyroidism;HP:0011734|Central adrenal insufficiency
paraganglioma	HP:0000975|Increased sweating;HP:0030074|Chemodectoma;HP:0001962|Palpitations;HP:0002640|Hypertension associated with pheochromocytoma;HP:0002886|Vagal nerve tumors;HP:0000405|Conductive hearing loss;HP:0006737|Pheochromocytoma, extraadrenal;HP:0003001|Glomus jugulare tumor;HP:0003334|Elevated circulating catecholamine level;HP:0001605|Vocal cord paralysis;HP:0002331|Recurrent paroxysmal headache;HP:0006748|Adrenal pheochromocytoma;HP:0006824|Cranial nerve palsy;HP:0006715|Tympanic nerve tumor;HP:0001686|Loss of voice;HP:0001649|Tachycardia;HP:0000740|Episodic paroxysmal anxiety
alagille syndrome	HP:0000028|Cryptorchidism;HP:0000615|Abnormality of the pupil;HP:0000307|Pointed chin;HP:0001629|Ventricular septal defect;HP:0100585|Telangiectasia of the skin;HP:0000248|Brachycephaly;HP:0003189|Long nose;HP:0001631|Atrial septal defect;HP:0000563|Keratoconus;HP:0008678|Renal hypoplasia/aplasia;HP:0000490|Deeply set eye;HP:0000347|Micrognathia;HP:0012368|Flat face;HP:0002007|Frontal bossing;HP:0006571|Reduced number of intrahepatic bile ducts;HP:0000486|Strabismus;HP:0003298|Spina bifida occulta;HP:0000316|Hypertelorism;HP:0000822|Hypertension;HP:0000069|Abnormality of the ureter;HP:0001511|Intrauterine growth retardation;HP:0000772|Abnormality of the ribs;HP:0000494|Downslanted palpebral fissures;HP:0001256|Intellectual disability, mild;HP:0003022|Hypoplasia of the ulna;HP:0003312|Abnormal form of the vertebral bodies;HP:0001396|Cholestasis;HP:0001131|Corneal dystrophy;HP:0001508|Failure to thrive;HP:0000823|Delayed puberty;HP:0002240|Hepatomegaly;HP:0004209|Clinodactyly of the 5th finger;HP:0000311|Round face;HP:0000322|Short philtrum;HP:0004617|Butterfly vertebral arch;HP:0000411|Protruding ear;HP:0003422|Vertebral segmentation defect;HP:0004969|Peripheral pulmonary artery stenosis;HP:0002750|Delayed skeletal maturation;HP:0000100|Nephrotic syndrome;HP:0001328|Specific learning disability;HP:0000280|Coarse facial features;HP:0009882|Short distal phalanx of finger
hereditary angioedema	HP:0010783|Erythema;HP:0011855|Pharyngeal edema;HP:0002960|Autoimmune condition;HP:0005225|Intestinal edema;HP:0005214|Intestinal obstruction;HP:0003477|Peripheral axonal neuropathy;HP:0002014|Diarrhea;HP:0001600|Laryngeal anomalies;HP:0002027|Abdominal pain;HP:0012027|Laryngeal edema;HP:0000282|Facial edema;HP:0001541|Ascites;HP:0100665|Angiooedema;HP:0100665|Angioedema;HP:0002013|Emesis;HP:0000969|Edema
chronic mucocutaneous candidiasis	HP:0000682|Abnormality of dental enamel;HP:0002715|Abnormality of the immune system;HP:0000010|Recurrent urinary tract infections;HP:0100825|Cheilitis;HP:0002205|Recurrent respiratory infections;HP:0010783|Erythema;HP:0004370|Abnormality of temperature regulation;HP:0004306|Abnormality of the endocardium;HP:0200042|Skin ulcer;HP:0001821|Broad nail;HP:0000790|Hematuria;HP:0002105|Hemoptysis;HP:0002719|Recurrent infections;HP:0000478|Abnormality of the eye;HP:0008388|Abnormality of the toenails;HP:0008872|Feeding difficulties in infancy;HP:0000962|Hyperkeratosis;HP:0001250|Seizures;HP:0000153|Abnormality of the mouth;HP:0000159|Abnormality of the lip;HP:0000951|Abnormality of the skin;HP:0030016|Dyspareunia;HP:0012735|Cough;HP:0000988|Skin rash;HP:0001597|Abnormality of the nail;HP:0000142|Abnormality of the vagina;HP:0000504|Abnormality of vision;HP:0000989|Pruritus;HP:0012115|Hepatitis;HP:0200034|Papule;HP:0001231|Abnormality of the fingernails
neurofibroma	HP:0100527|Neoplasia of the pleura;HP:0003406|Peripheral nerve compression;HP:0100551|Neoplasm of the trachea;HP:0100010|Spinal meningioma;HP:0001067|Neurofibromas;HP:0100013|Neoplasm of the breast;HP:0009593|Peripheral Schwannoma;HP:0001291|Abnormality of the cranial nerves;HP:0002584|Intestinal bleeding;HP:0012645|Enlarged peripheral nerve;HP:0009732|Plexiform neurofibroma;HP:0006751|Paraspinal neurofibromas;HP:0012289|Facial neoplasm;HP:0009735|Spinal neurofibromas;HP:0012440|Abnormal biliary tract morphology;HP:0005220|Multiple intestinal neurofibromatosis;HP:0100698|Subcutaneous neurofibromas;HP:0002751|Kyphoscoliosis;HP:0011801|Enlargement of parotid gland;HP:0000256|Macrocephaly;HP:0000403|Recurrent otitis media;HP:0003416|Spinal canal stenosis;HP:0000995|Melanocytic nevus;HP:0006851|Symmetric spinal nerve root neurofibromas;HP:0010609|Skin tags;HP:0007524|Atypical neurofibromatosis;HP:0007470|Periarticular subcutaneous nodules;HP:0007576|Palmar neurofibromas
aicardi syndrome	HP:0000639|Nystagmus;HP:0001357|Plagiocephaly;HP:0003316|Butterfly vertebrae;HP:0010864|Intellectual disability, severe;HP:0012469|Infantile spasms;HP:0001012|Multiple lipomas;HP:0000588|Optic nerve coloboma;HP:0000568|Microphthalmia;HP:0002884|Hepatoblastoma;HP:0200008|Intestinal polyposis;HP:0000826|Precocious puberty;HP:0000541|Retinal detachment;HP:0002119|Ventriculomegaly;HP:0002019|Constipation;HP:0001000|Abnormality of skin pigmentation;HP:0005338|Sparse lateral eyebrow;HP:0001257|Spasticity;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0002342|Intellectual disability, moderate;HP:0000921|Missing ribs;HP:0000204|Cleft upper lip;HP:0010759|Premaxillary Prominence;HP:0005815|Supernumerary ribs;HP:0011344|Severe global developmental delay;HP:0004374|Hemiplegia/hemiparesis;HP:0001302|Pachygyria;HP:0001276|Hypertonia;HP:0001338|Partial agenesis of the corpus callosum;HP:0002024|Malabsorption;HP:0008872|Feeding difficulties in infancy;HP:0002020|Gastroesophageal reflux;HP:0002353|EEG abnormality;HP:0000175|Cleft palate;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0011343|Moderate global developmental delay;HP:0000648|Optic atrophy;HP:0000823|Delayed puberty;HP:0000902|Rib fusion;HP:0000892|Bifid ribs;HP:0007703|Abnormality of retinal pigmentation;HP:0200055|Small hand;HP:0003305|Block vertebrae;HP:0000322|Short philtrum;HP:0000411|Protruding ear;HP:0000567|Chorioretinal coloboma;HP:0001385|Hip dysplasia;HP:0002126|Polymicrogyria;HP:0001252|Muscular hypotonia;HP:0002036|Hiatus hernia
whipple disease	HP:0000520|Proptosis;HP:0002239|Gastrointestinal hemorrhage;HP:0001336|Myoclonus;HP:0100639|Erectile abnormalities;HP:0012378|Fatigue;HP:0007256|Abnormal pyramidal signs;HP:0002027|Abdominal pain;HP:0002376|Developmental regression;HP:0002383|Encephalitis;HP:0002829|Arthralgia;HP:0002102|Pleuritis;HP:0003326|Myalgia;HP:0001251|Ataxia;HP:0100721|Mediastinal lymphadenopathy;HP:0000855|Insulin resistance;HP:0002014|Diarrhea;HP:0002902|Hyponatremia;HP:0009830|Peripheral neuropathy;HP:0002615|Hypotension;HP:0002516|Increased intracranial pressure;HP:0001903|Anemia;HP:0002024|Malabsorption;HP:0001250|Seizures;HP:0010741|Edema of the lower limbs;HP:0100829|Galactorrhea;HP:0000554|Uveitis;HP:0001658|Myocardial infarction;HP:0002093|Respiratory insufficiency;HP:0001945|Fever;HP:0012819|Myocarditis;HP:0002240|Hepatomegaly;HP:0012735|Cough;HP:0002360|Sleep disturbance;HP:0001701|Pericarditis;HP:0100614|Myositis;HP:0001959|Polydipsia;HP:0001744|Splenomegaly;HP:0004326|Cachexia;HP:0001369|Arthritis;HP:0001324|Muscle weakness;HP:0100749|Chest pain;HP:0000716|Depression;HP:0006824|Cranial nerve paralysis;HP:0000238|Hydrocephalus;HP:0007440|Generalized hyperpigmentation;HP:0002039|Anorexia;HP:0000821|Hypothyroidism
uveal melanoma	HP:0012508|Metamorphopsia;HP:0001098|Abnormality of the fundus;HP:0030786|Photopsia;HP:0010920|Zonular cataract;HP:0007906|Increased intraocular pressure;HP:0011499|Mydriasis;HP:0007902|Vitreous hemorrhage;HP:0030800|Abnormal visual accommodation;HP:0100533|Inflammatory abnormality of the eye;HP:0000541|Retinal detachment;HP:0007716|Intraocular melanoma;HP:0012055|Ciliary body melanoma;HP:0008494|Inferior lens subluxation;HP:0200026|Ocular pain;HP:0000572|Visual loss;HP:0011524|Iris melanoma;HP:0000539|Abnormality of refraction;HP:0012054|Choroidal melanoma
inclusion body myositis	HP:0003701|Proximal limb muscle weakness;HP:0003200|Ragged-red muscle fibers;HP:0003326|Myalgia;HP:0003701|Proximal muscle weakness;HP:0004303|Abnormality of muscle fibers;HP:0003236|Elevated serum creatine phosphokinase;HP:0003805|Rimmed vacuoles;HP:0001265|Decreased tendon reflexes;HP:0003457|EMG abnormality;HP:0002960|Autoimmunity;HP:0003731|Quadriceps muscle weakness;HP:0002460|Weakness of distal muscles;HP:0001315|Reduced tendon reflexes;HP:0002015|Swallowing difficulty;HP:0009071|Inflammatory myopathy;HP:0003202|Skeletal muscle atrophy;HP:0008872|Feeding difficulties in infancy
sapho syndrome	HP:0001061|Acne;HP:0010622|Neoplasm of the skeletal system;HP:0005464|Craniofacial osteosclerosis;HP:0002653|Bone pain;HP:0002027|Abdominal pain;HP:0002037|Inflammation of the large intestine;HP:0002797|Osteolysis;HP:0002829|Arthralgia;HP:0100769|Synovitis;HP:0003765|Psoriasis;HP:0002028|Chronic diarrhea;HP:0100774|Hyperostosis;HP:0100686|Enthesitis;HP:0002024|Malabsorption;HP:0100781|Abnormality of the sacroiliac joint;HP:0000925|Abnormality of the vertebral column;HP:0002754|Osteomyelitis;HP:0002633|Vasculitis;HP:0004936|Venous thrombosis;HP:0002757|Recurrent fractures;HP:0100847|Palmoplantar pustulosis;HP:0000988|Skin rash;HP:0002570|Steatorrhea;HP:0001369|Arthritis;HP:0100749|Chest pain;HP:0000765|Abnormality of the thorax;HP:0006824|Cranial nerve paralysis;HP:0200039|Pustule;HP:0001581|Recurrent skin infections;HP:0000969|Edema
ebstein anomaly	HP:0001645|Sudden cardiac death;HP:0004309|Pre-excitation syndrome;HP:0011712|Right bundle-branch block;HP:0005110|Atrial fibrillation;HP:0001631|Atria septal defect;HP:0010316|Ebstein's anomaly of the tricuspid valve
erythrokeratodermia variabilis	HP:0012733|Macule;HP:0000518|Cataract;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0001824|Weight loss;HP:0008069|Neoplasm of the skin;HP:0001156|Brachydactyly syndrome;HP:0010783|Erythema;HP:0002564|Malformation of the heart and great vessels;HP:0008066|Abnormal blistering of the skin;HP:0000962|Hyperkeratosis;HP:0007957|Corneal opacity;HP:0005588|Patchy palmoplantar keratoderma;HP:0007400|Irregular hyperpigmentation;HP:0000252|Microcephaly;HP:0001182|Tapered finger;HP:0002230|Generalized hirsutism;HP:0001595|Abnormality of the hair;HP:0001249|Intellectual disability;HP:0000988|Skin rash;HP:0001597|Abnormality of the nail;HP:0000411|Protruding ear;HP:0001596|Alopecia;HP:0000958|Dry skin;HP:0000992|Cutaneous photosensitivity;HP:0000819|Diabetes mellitus;HP:0001034|Hypermelanotic macule;HP:0000501|Glaucoma;HP:0000035|Abnormality of the testis
oculocutaneous albinism	HP:0000639|Nystagmus;HP:0000505|Visual impairment;HP:0006739|Squamous cell carcinoma of the skin;HP:0000992|Cutaneous photosensitivity;HP:0005599|Hypopigmentation of hair;HP:0000486|Strabismus;HP:0000545|Myopia;HP:0000613|Photophobia;HP:0007513|Generalized hypopigmentation;HP:0007730|Iris hypopigmentation;HP:0000483|Astigmatism;HP:0007750|Hypoplasia of the fovea;HP:0008499|High-grade hypermetropia;HP:0011364|White hair;HP:0002227|White eyelashes;HP:0002861|Melanoma;HP:0002671|Basal cell carcinoma
feingold syndrome	HP:0000202|Oral cleft;HP:0003312|Abnormal form of the vertebral bodies;HP:0000347|Micrognathia;HP:0001822|Hallux valgus;HP:0004322|Short stature;HP:0000463|Anteverted nares;HP:0000252|Microcephaly;HP:0001734|Annular pancreas;HP:0002247|Duodenal atresia;HP:0001770|Toe syndactyly;HP:0001249|Intellectual disability;HP:0001643|Patent ductus arteriosus;HP:0005280|Depressed nasal bridge;HP:0012745|Short palpebral fissure;HP:0008572|External ear malformation;HP:0002032|Esophageal atresia;HP:0000407|Sensorineural hearing impairment;HP:0009468|Deviation of the 2nd finger;HP:0004209|Clinodactyly of the 5th finger;HP:0001743|Abnormality of the spleen;HP:0001156|Brachydactyly syndrome
crest syndrome	HP:0000214|Lip telangiectasia;HP:0001211|Abnormality of the fingertips;HP:0002094|Dyspnea;HP:0011159|Epigastric auras;HP:0002015|Dysphagia;HP:0002206|Pulmonary fibrosis;HP:0003761|Calcinosis;HP:0002960|Autoimmunity;HP:0100585|Telangiectasia of the skin;HP:0002017|Nausea and vomiting;HP:0030053|Stiff skin;HP:0100679|Lack of skin elasticity;HP:0200042|Skin ulcer;HP:0011838|Sclerodactyly;HP:0002092|Pulmonary arterial hypertension;HP:0000969|Edema
leishmaniasis	HP:0200035|Skin plaque;HP:0012378|Fatigue;HP:0030166|Night sweats;HP:0001824|Weight loss;HP:0000980|Pallor;HP:0001954|Episodic fever;HP:0000366|Abnormality of the nose;HP:0002829|Arthralgia;HP:0002716|Lymphadenopathy;HP:0001873|Thrombocytopenia;HP:0001882|Leukopenia;HP:0200042|Skin ulcer;HP:0001903|Anemia;HP:0001876|Pancytopenia;HP:0000163|Abnormality of the oral cavity;HP:0002240|Hepatomegaly;HP:0001892|Abnormal bleeding;HP:0011830|Abnormality of oral mucosa;HP:0002910|Elevated hepatic transaminases;HP:0001744|Splenomegaly;HP:0004311|Abnormality of macrophages;HP:0002039|Anorexia;HP:0200034|Papule;HP:0003073|Hypoalbuminemia;HP:0010702|Increased antibody level in blood
reactive arthritis	HP:0100543|Cognitive impairment;HP:0002027|Abdominal pain;HP:0001824|Weight loss;HP:0002037|Inflammation of the large intestine;HP:0001659|Aortic regurgitation;HP:0000010|Recurrent urinary tract infections;HP:0002829|Arthralgia;HP:0002014|Diarrhea;HP:0002206|Pulmonary fibrosis;HP:0100686|Enthesitis;HP:0000962|Hyperkeratosis;HP:0002754|Osteomyelitis;HP:0002093|Respiratory insufficiency;HP:0001386|Joint swelling;HP:0001945|Fever;HP:0002103|Abnormality of the pleura;HP:0001701|Pericarditis;HP:0008391|Dystrophic fingernails;HP:0001597|Abnormality of the nail;HP:0011107|Recurrent aphthous stomatitis;HP:0001369|Arthritis;HP:0001387|Joint stiffness;HP:0000613|Photophobia;HP:0000509|Conjunctivitis;HP:0200039|Pustule;HP:0100773|Cartilage destruction
progressive myoclonus epilepsy	HP:0002123|Myoclonus seizures
porphyria	HP:0012086|Abnormal urinary color;HP:0012378|Fatigue;HP:0100021|Cerebral palsy;HP:0002019|Constipation;HP:0002027|Abdominal pain;HP:0001000|Abnormality of skin pigmentation;HP:0003401|Paresthesia;HP:0010472|Abnormality of the heme biosynthetic pathway;HP:0002014|Diarrhea;HP:0000822|Hypertension;HP:0002017|Nausea and vomiting;HP:0008066|Abnormal blistering of the skin;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0005679|Dupuytren contracture;HP:0001945|Fever;HP:0002360|Sleep disturbance;HP:0001324|Muscle weakness;HP:0000992|Cutaneous photosensitivity;HP:0100749|Chest pain;HP:0000738|Hallucinations;HP:0000989|Pruritus;HP:0002039|Anorexia
infantile refsum disease	HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0003323|Progressive muscle weakness;HP:0000518|Cataract;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0010628|Facial palsy;HP:0005930|Abnormality of epiphysis morphology;HP:0001257|Spasticity;HP:0001251|Ataxia;HP:0000407|Sensorineural hearing impairment;HP:0000271|Abnormality of the face;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0011675|Arrhythmia;HP:0000510|Rod-cone dystrophy;HP:0001508|Failure to thrive;HP:0000648|Optic atrophy;HP:0002240|Hepatomegaly;HP:0001638|Cardiomyopathy;HP:0000505|Visual impairment;HP:0007981|Concentric narrowing of visual fields;HP:0001252|Muscular hypotonia;HP:0010571|Elevated levels of phytanic acid;HP:0008064|Ichthyosis;HP:0000662|Nyctalopia;HP:0008167|Very long chain fatty acid accumulation
interstitial cystitis	HP:0000078|Abnormality of the genital system;HP:0000142|Abnormality of the vagina;HP:0000014|Abnormality of the bladder;HP:0100577|Urinary bladder inflammation;HP:0000140|Abnormality of the menstrual cycle;HP:0000017|Nocturia;HP:0000795|Abnormality of the urethra;HP:0030016|Dyspareunia;HP:0012531|Pain;HP:0000012|Urinary urgency;HP:0000009|Functional abnormality of the bladder;HP:0100515|Pollakisuria;HP:0000058|Abnormality of the labia
pyruvate carboxylase deficiency	HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0006970|Periventricular leukomalacia;HP:0002240|Enlarged liver;HP:0007190|Neuronal loss in the cerebral cortex;HP:0003542|Increased serum pyruvate;HP:0001263|Developmental retardation;HP:0003128|Lactic acidosis;HP:0003348|Increased blood alanine;HP:0002169|Clonus;HP:0002049|Proximal renal tubular acidosis;HP:0001943|Hypoglycemia;HP:0002151|Increased serum lactate;HP:0001249|Mental retardation
lichen sclerosus	HP:0002860|Squamous cell carcinoma
glycogen storage disease type v	HP:0003710|Muscle cramps following exercise;HP:0003738|Muscle pain on exercise;HP:0003236|Elevated creatine kinase;HP:0003201|Rhabdomyolysis;HP:0001324|Muscular weakness;HP:0002913|Myoglobinuria
peyronie's disease	HP:0000924|Abnormality of the skeletal system;HP:0000119|Genitourinary abnormality
mucous membrane pemphigoid	HP:0000987|Atypical scarring of skin;HP:0007957|Corneal opacity;HP:0000618|Blindness;HP:0000230|Gingivitis;HP:0200097|Oral mucosal blisters;HP:0002960|Autoimmunity;HP:0008066|Abnormal blistering of the skin
dyschondrosteosis	HP:0002986|Bowed radii;HP:0006459|Dorsal subluxation of ulna;HP:0003102|Increased carrying angle;HP:0001832|Abnormality of the metatarsal bones;HP:0008873|Dwarfism, short-limbed;HP:0003063|Abnormality of the humerus;HP:0005736|Short tibia;HP:0001831|Short toes;HP:0001191|Carpal bone anomalies;HP:0003712|Hypertrophic muscles;HP:0003022|Short ulna;HP:0002982|Bowed tibia;HP:0006248|Limited wrist movement;HP:0002996|Decreased elbow mobility;HP:0003038|Hypoplastic fibula;HP:0000218|Increased palatal height;HP:0002650|Scoliosis;HP:0003027|Mesomelia;HP:0010044|Shortened 4th long bone of hand;HP:0003067|Madelung wrist deformity;HP:0002984|Hypoplastic radius;HP:0002673|Coxa valga;HP:0002762|Multiple exostoses
jervell and lange-nielsen syndrome	HP:0008527|Hearing loss, congenital sensorineural;HP:0001664|Torsade de pointes;HP:0001657|Prolonged QT interval;HP:0001279|Syncope;HP:0001645|Sudden cardiac death
cri du chat syndrome	HP:0000028|Cryptorchidism;HP:0010049|Metacarpal hypoplasia;HP:0000486|Squint eyes;HP:0000311|Round facial shape;HP:0000518|Cataract;HP:0000402|Stenosis of the external auditory canal;HP:0030680|Abnormality of cardiovascular system morphology;HP:0000365|Hearing impairment;HP:0002020|Heartburn;HP:0000336|Prominent supraorbital ridges;HP:0000316|Increased distance between eye sockets;HP:0002355|Difficulty walking;HP:0001840|Forefoot varus;HP:0000275|Decreased width of face;HP:0000202|Oral clefting;HP:0001540|Diastasis recti;HP:0200046|Cat cry;HP:0002216|Premature hair graying;HP:0000648|Optic-nerve degeneration;HP:0000470|Decreased cervical height;HP:0000954|Simian creases;HP:0000733|Repetitive movements;HP:0000286|Palpebronasal fold;HP:0000047|Hypospadias;HP:0000369|Low-set ears;HP:0000377|Malformation of auricle;HP:0000276|Long face;HP:0010529|Echophrasia;HP:0100024|Happy aspect;HP:0005437|Recurrent infections in infancy and early childhood;HP:0000179|Plump lower lip;HP:0000739|Anxiety;HP:0000384|Preauricular skin tag;HP:0001249|Mental retardation;HP:0002714|Downturned corners of mouth;HP:0000736|Short attention span;HP:0000750|Late-onset speech development;HP:0001276|Hypertonia;HP:0000077|Renal anomaly;HP:0008872|Feeding difficulties in infancy;HP:0000324|Asymmetry of face;HP:0000252|Small head circumference;HP:0000545|Near sightedness;HP:0010865|Oppositional defiant disorder;HP:0002650|Scoliosis;HP:0000218|Increased palatal height;HP:0009102|Gap between upper and lower front teeth when biting;HP:0001518|Small for gestational age;HP:0001042|High axial triradius;HP:0000431|Broad nasal root;HP:0000023|Inguinal hernia;HP:0010780|Hyperacusis;HP:0002795|Functional respiratory abnormality;HP:0000308|Retromicrognathia;HP:0000273|Facial grimacing;HP:0100025|Overfriendliness;HP:0000717|Autism;HP:0001159|Webbed fingers or toes;HP:0000322|Short philtrum;HP:0010743|Shortened metatarsals;HP:0000742|Self-mutilation;HP:0001510|Growth deficiency;HP:0001763|Pes planus;HP:0000193|Uvula bifida;HP:0000494|Downward slanting palpebral fissures;HP:0001319|Hypotonia, in neonatal onset;HP:0000752|Hyperactive behavior;HP:0000718|Aggressive behaviour
meningioma	HP:0000044|Hypogonadotrophic hypogonadism;HP:0001317|Abnormality of the cerebellum;HP:0030532|Visual acuity test abnormality;HP:0000520|Proptosis;HP:0008202|Prolactin deficiency;HP:0002920|Decreased circulating ACTH level;HP:0030591|Abnormal kinetic perimetry test;HP:0100543|Cognitive impairment;HP:0000020|Urinary incontinence;HP:0010534|Transient global amnesia;HP:0004302|Functional motor problems;HP:0030344|Decreased circulating luteinizing hormone level;HP:0001269|Hemiparesis;HP:0002354|Memory impairment;HP:0002355|Difficulty walking;HP:0010628|Facial palsy;HP:0011752|Neoplasm of the posterior pituitary;HP:0008069|Neoplasm of the skin;HP:0012691|Focal T2 hypointense thalamic lesion;HP:0030341|Decreased circulating follicle stimulating hormone level;HP:0008163|Decreased circulating cortisol level;HP:0000602|Ophthalmoplegia;HP:0012505|Enlarged pituitary gland;HP:0100661|Trigeminal neuralgia;HP:0001262|Excessive daytime somnolence;HP:0100010|Spinal meningioma;HP:0011133|Increased sensitivity to ionizing radiation;HP:0001251|Ataxia;HP:0001067|Neurofibromas;HP:0007715|Weak extraocular muscles;HP:0000618|Blindness;HP:0007340|Lower limb muscle weakness;HP:0002167|Neurological speech impairment;HP:0002516|Increased intracranial pressure;HP:0002017|Nausea and vomiting;HP:0011730|Abnormality of central sensory function;HP:0030766|Ear pain;HP:0004408|Abnormality of the sense of smell;HP:0007359|Focal seizures;HP:0012246|Oculomotor nerve palsy;HP:0001250|Seizures;HP:0003418|Back pain;HP:0003484|Upper limb muscle weakness;HP:0006520|Progressive pulmonary function impairment;HP:0008230|Decreased testosterone in males;HP:0001279|Syncope;HP:0012658|Abnormal brain FDG positron emission tomography;HP:0000712|Emotional lability;HP:0100009|Intracranial meningioma;HP:0012285|Abnormal hypothalamus physiology;HP:0045026|Abnormality of the mediastinum;HP:0002512|Brain stem compression;HP:0000802|Impotence;HP:0001085|Papilledema;HP:0010997|Chromosomal breakage induced by ionizing radiation;HP:0011750|Neoplasm of the anterior pituitary;HP:0000141|Amenorrhea;HP:0000870|Prolactin excess;HP:0001513|Obesity;HP:0007924|Slow decrease in visual acuity;HP:0100648|Neoplasm of the tongue;HP:0008237|Hypothalamic hypothyroidism;HP:0006824|Cranial nerve paralysis;HP:0008214|Decreased serum estradiol;HP:0011442|Abnormality of central motor function;HP:0010828|Hemifacial spasm;HP:0001342|Cerebral hemorrhage;HP:0000238|Hydrocephalus;HP:0000360|Tinnitus;HP:0030521|Bitemporal hemianopia;HP:0002315|Headache;HP:0008240|Secondary growth hormone deficiency;HP:0008245|Pituitary hypothyroidism;HP:0030878|Abnormality on pulmonary function testing
antiphospholipid syndrome	HP:0001973|Autoimmune thrombocytopenia;HP:0004420|Arterial thrombosis;HP:0004936|Blood clot in vein
bronchopulmonary dysplasia	HP:0002094|Dyspnea;HP:0100632|Pulmonary sequestration;HP:0002786|Tracheobronchomalacia;HP:0002871|Central apnea;HP:0002098|Respiratory distress;HP:0012419|Hyperoxemia;HP:0002097|Emphysema;HP:0001667|Right ventricular hypertrophy;HP:0002088|Abnormality of lung morphology;HP:0004887|Respiratory failure requiring assisted ventilation;HP:0100750|Atelectasis;HP:0001518|Small for gestational age;HP:0001622|Premature birth;HP:0006597|Diaphragmatic paralysis;HP:0003546|Exercise intolerance;HP:0012735|Cough;HP:0002360|Sleep disturbance;HP:0002795|Functional respiratory abnormality;HP:0030828|Wheezing;HP:0006528|Chronic lung disease;HP:0012252|Abnormal respiratory system morphology;HP:0001708|Right ventricular failure
nail-patella syndrome	HP:0000518|Cataract;HP:0000365|Hearing impairment;HP:0001373|Joint dislocation;HP:0002999|Patellar dislocation;HP:0000093|Proteinuria;HP:0001807|Ridged nail;HP:0000083|Renal insufficiency;HP:0009780|Iliac horns;HP:0100820|Glomerulopathy;HP:0006650|Thickening of the lateral border of the scapula;HP:0002652|Skeletal dysplasia;HP:0005692|Joint hyperflexibility;HP:0000822|Hypertension;HP:0000112|Nephropathy;HP:0006498|Aplasia/Hypoplasia of the patella;HP:0000790|Hematuria;HP:0008388|Abnormality of the toenails;HP:0002633|Vasculitis;HP:0001386|Joint swelling;HP:0002814|Abnormality of the lower limb;HP:0002758|Osteoarthritis;HP:0001598|Concave nail;HP:0009811|Abnormality of the elbow;HP:0001800|Hypoplastic toenails;HP:0010624|Aplastic/hypoplastic toenail;HP:0001387|Joint stiffness;HP:0002967|Cubitus valgus;HP:0100777|Exostoses;HP:0000100|Nephrotic syndrome;HP:0002817|Abnormality of the upper limb;HP:0000501|Glaucoma;HP:0001231|Abnormality of the fingernails
temporal arteritis	HP:0008030|Retinal arteritis;HP:0003565|Elevated sedimentation rate;HP:0000618|Blindness
muckle-wells syndrome	HP:0001025|Urticaria;HP:0000078|Abnormality of the genital system;HP:0004322|Short stature;HP:0002027|Abdominal pain;HP:0000366|Abnormality of the nose;HP:0002829|Arthralgia;HP:0002091|Restrictive lung disease;HP:0003326|Myalgia;HP:0003565|Elevated erythrocyte sedimentation rate;HP:0004299|Hernia of the abdominal wall;HP:0001917|Renal amyloidosis;HP:0100534|Episcleritis;HP:0000112|Nephropathy;HP:0001903|Anemia;HP:0002633|Vasculitis;HP:0000554|Uveitis;HP:0000256|Macrocephaly;HP:0001608|Abnormality of the voice;HP:0001945|Fever;HP:0000648|Optic atrophy;HP:0000408|Progressive sensorineural hearing impairment;HP:0000823|Delayed puberty;HP:0002240|Hepatomegaly;HP:0001761|Pes cavus;HP:0001939|Abnormality of metabolism/homeostasis;HP:0000988|Skin rash;HP:0001769|Broad foot;HP:0011107|Recurrent aphthous stomatitis;HP:0001744|Splenomegaly;HP:0001369|Arthritis;HP:0000100|Nephrotic syndrome;HP:0000509|Conjunctivitis;HP:0100490|Camptodactyly of finger;HP:0006824|Cranial nerve paralysis;HP:0000174|Abnormality of the palate;HP:0000501|Glaucoma;HP:0008064|Ichthyosis
charcot-marie-tooth disease	HP:0003470|Paralysis;HP:0003693|Distal amyotrophy;HP:0001251|Ataxia;HP:0001288|Gait disturbance;HP:0001601|Laryngomalacia;HP:0001608|Abnormality of the voice;HP:0002650|Scoliosis;HP:0003457|EMG abnormality;HP:0002808|Kyphosis;HP:0007328|Impaired pain sensation;HP:0001315|Reduced tendon reflexes;HP:0000762|Decreased nerve conduction velocity;HP:0000600|Abnormality of the pharynx
localized scleroderma	HP:0004552|Scarring alopecia of scalp;HP:0002829|Arthralgia;HP:0001171|Split hand;HP:0001371|Flexion contracture;HP:0003326|Myalgia;HP:0004334|Dermal atrophy;HP:0100557|Hemiatrophy of lower limb;HP:0001073|Cigarette-paper scars;HP:0001010|Hypopigmentation of the skin;HP:0030053|Stiff skin;HP:0100578|Lipoatrophy;HP:0000953|Hyperpigmentation of the skin;HP:0100556|Hemiatrophy;HP:0100558|Hemiatrophy of upper limb;HP:0005830|Flexion contracture of toe;HP:0003202|Skeletal muscle atrophy
hydatidiform mole	HP:0005268|Spontaneous abortion;HP:0000119|Genitourinary abnormality;HP:0100602|Preeclampsia;HP:0100878|Enlarged uterus;HP:0400008|Menometrorrhagia;HP:0002017|Nausea and vomiting;HP:0001903|Anemia;HP:0000836|Hyperthyroidism
diffuse cutaneous systemic sclerosis	HP:0000670|Carious teeth;HP:0002094|Dyspnea;HP:0002015|Dysphagia;HP:0002960|Autoimmunity;HP:0100585|Telangiectasia of the skin;HP:0000217|Xerostomia;HP:0030142|Abnormal bowel sounds;HP:0002797|Osteolysis;HP:0000083|Renal insufficiency;HP:0001635|Congestive heart failure;HP:0002829|Arthralgia;HP:0001371|Flexion contracture;HP:0002206|Pulmonary fibrosis;HP:0100520|Oliguria;HP:0002113|Pulmonary infiltrates;HP:0002017|Nausea and vomiting;HP:0200042|Skin ulcer;HP:0100735|Hypertensive crisis;HP:0002024|Malabsorption;HP:0002020|Gastroesophageal reflux;HP:0100958|Narrow foramen obturatorium;HP:0000951|Abnormality of the skin;HP:0030016|Dyspareunia;HP:0001369|Arthritis;HP:0001324|Muscle weakness;HP:0002092|Pulmonary arterial hypertension
becker muscular dystrophy	HP:0003551|Difficulty climbing stairs;HP:0002910|Elevated hepatic transaminases;HP:0003326|Myalgia;HP:0012086|Abnormal urinary color;HP:0003236|Elevated serum creatine phosphokinase;HP:0001324|Muscle weakness;HP:0012378|Fatigue;HP:0002814|Abnormality of the lower limb;HP:0001763|Pes planus;HP:0002355|Difficulty walking;HP:0002527|Falls;HP:0002913|Myoglobinuria;HP:0003394|Muscle cramps;HP:0003546|Exercise intolerance;HP:0003202|Skeletal muscle atrophy;HP:0040083|Toe walking
cartilage-hair hypoplasia	HP:0008921|Dwarfism, neonatal short-limbed;HP:0000248|Brachycephaly;HP:0004810|Congenital hypoplastic anemia;HP:0010306|Short thorax;HP:0008450|Narrow vertebral interpedicular distance;HP:0004279|Hypoplastic hands;HP:0005871|Metaphyseal chondrodysplasia;HP:0000774|Narrow chest;HP:0100569|Abnormal vertebral ossification;HP:0001903|Anemia;HP:0002024|Malabsorption;HP:0002353|EEG abnormality;HP:0003312|Abnormal form of the vertebral bodies;HP:0011849|Abnormal bone ossification;HP:0002093|Respiratory insufficiency;HP:0002665|Lymphoma;HP:0003272|Abnormality of the hip bone;HP:0001972|Macrocytic anemia;HP:0001508|Failure to thrive;HP:0000431|Wide nasal bridge;HP:0007703|Abnormality of retinal pigmentation;HP:0005616|Accelerated skeletal maturation;HP:0001638|Cardiomyopathy;HP:0000174|Abnormality of the palate;HP:0001252|Muscular hypotonia;HP:0006589|Flaring of lower rib cage;HP:0005360|Susceptibility to chickenpox;HP:0008873|Disproportionate short-limb short stature;HP:0001888|Lymphocytopenia;HP:0100543|Cognitive impairment;HP:0000545|Myopia;HP:0005930|Abnormality of epiphysis morphology;HP:0002032|Esophageal atresia;HP:0100255|Metaphyseal dysplasia;HP:0002652|Skeletal dysplasia;HP:0005374|Cellular immunodeficiency;HP:0002938|Exaggerated lumbar lordosis;HP:0002024|Intestinal malabsorption;HP:0004279|Short palm;HP:0003220|Abnormality of chromosome stability;HP:0000286|Epicanthus;HP:0003016|Wide metaphyses;HP:0010301|Spinal dysraphism;HP:0003027|Mesomelia;HP:0002240|Hepatomegaly;HP:0200055|Small hand;HP:0001382|Hyperextensible joints;HP:0002750|Delayed skeletal maturation;HP:0008155|Mucopolysacchariduria;HP:0000368|Low-set, posteriorly rotated ears;HP:0000212|Gingival overgrowth;HP:0001671|Abnormality of the cardiac septa;HP:0000944|Abnormality of the metaphyses;HP:0002983|Micromelia;HP:0008905|Rhizomelia;HP:0007464|Sparse facial hair;HP:0002777|Tracheal stenosis;HP:0000535|Sparse eyebrow;HP:0000592|Blue sclerae;HP:0004625|Biconvex vertebral bodies;HP:0002251|Aganglionic megacolon;HP:0003347|Impaired lymphocyte transformation with phytohemagglutinin;HP:0005019|Diaphyseal thickening;HP:0005280|Depressed nasal bridge;HP:0100729|Large face;HP:0008069|Neoplasm of the skin;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0002982|Tibial bowing;HP:0003307|Hyperlordosis;HP:0008499|High-grade hypermetropia;HP:0005692|Joint hyperflexibility;HP:0004313|Decreased antibody level in blood;HP:0008056|Aplasia/Hypoplasia affecting the eye;HP:0000535|Thin, sparse eyebrows;HP:0010318|Aplasia/Hypoplasia of the abdominal wall musculature;HP:0001377|Limited elbow extension;HP:0002213|Thin hair shaft;HP:0000457|Depressed nasal ridge;HP:0002650|Scoliosis;HP:0002286|Fair hair;HP:0002251|Hirschsprung megacolon;HP:0009832|Abnormality of the distal phalanx of finger;HP:0000505|Visual impairment;HP:0000444|Convex nasal ridge;HP:0000463|Anteverted nares;HP:0001732|Abnormality of the pancreas;HP:0011220|Prominent forehead;HP:0000768|Pectus carinatum;HP:0000940|Abnormal diaphysis morphology;HP:0000470|Short neck;HP:0006487|Bowing of the long bones;HP:0000486|Strabismus;HP:0000960|Sacral dimple;HP:0000772|Abnormality of the ribs;HP:0001315|Reduced tendon reflexes;HP:0001377|Restricted elbow extension;HP:0002901|Hypocalcemia;HP:0008070|Sparse hair;HP:0001875|Neutropenia;HP:0012722|Heart block;HP:0000653|Hypotrichosis of eyelashes;HP:0002644|Abnormal shape of pelvic girdle bone;HP:0000400|Macrotia;HP:0003021|Metaphyseal cupping
panhypopituitarism	HP:0000044|Hypogonadotrophic hypogonadism;HP:0002920|Decreased circulating ACTH level;HP:0012378|Fatigue;HP:0004322|Short stature;HP:0002019|Constipation;HP:0008734|Decreased testicular size;HP:0000824|Growth hormone deficiency;HP:0012731|Ectopic anterior pituitary gland;HP:0040086|Abnormal prolactin level;HP:0011755|Ectopic posterior pituitary;HP:0040075|Hypopituitarism;HP:0002615|Hypotension;HP:0001943|Hypoglycemia;HP:0010627|Anterior pituitary hypoplasia;HP:0001510|Growth delay;HP:0000457|Depressed nasal ridge;HP:0000839|Pituitary dwarfism;HP:0000938|Osteopenia;HP:0008187|Absence of secondary sex characteristics;HP:0005625|Osteoporosis of vertebrae;HP:0010311|Aplasia/Hypoplasia of the breasts;HP:0000823|Delayed puberty;HP:0009888|Abnormality of secondary sexual hair;HP:0000141|Amenorrhea;HP:0000789|Infertility;HP:0002750|Delayed skeletal maturation;HP:0008245|Pituitary hypothyroidism
peters anomaly	HP:0000639|Nystagmus;HP:0000486|Squint eyes;HP:0007957|Corneal clouding;HP:0001087|Childhood glaucoma;HP:0000659|Peters anomaly
brittle cornea syndrome	HP:0009887|Abnormality of hair pigmentation;HP:0007517|Wrinkled palms and soles;HP:0000541|Retinal detachment;HP:0003302|Spondylolithesis;HP:0000365|Hearing impairment;HP:0000256|Macrocrania;HP:0000592|Blue sclerae;HP:0000978|Bruising susceptibility;HP:0001166|Arachnodactyly;HP:0000592|Bluish sclerae;HP:0001519|Dolichostenomelia;HP:0005930|Abnormality of epiphysis morphology;HP:0000572|Visual loss;HP:0000559|Corneal scarring;HP:0000974|Hyperextensible skin;HP:0011003|Severe Myopia;HP:0000987|Atypical scarring of skin;HP:0000286|Palpebronasal fold;HP:0001374|Congenital hip dislocation;HP:0003326|Myalgia;HP:0005692|Joint hyperflexibility;HP:0200020|Corneal erosion;HP:0000563|Conical cornea;HP:0000164|Abnormality of the teeth;HP:0002659|Increased susceptibility to fractures;HP:0000407|Sensorineural hearing impairment;HP:0001642|Pulmonic stenosis;HP:0000993|Molluscoid pseudotumor;HP:0000175|Cleft palate;HP:0001288|Gait disturbance;HP:0001822|Hallux valgus;HP:0000545|Near sightedness;HP:0100689|Decreased corneal thickness;HP:0001388|Joint laxity;HP:0002650|Scoliosis;HP:0001131|Corneal dystrophy;HP:0000939|Osteoporosis;HP:0001119|Keratoglobus;HP:0000405|Conductive hearing impairment;HP:0001319|Neonatal hypotonia;HP:0012385|Camptodactyly;HP:0001385|Hip dysplasia;HP:0001634|Mitral valve prolapse;HP:0002297|Red hair;HP:0000977|Soft skin;HP:0001763|Pes planus;HP:0100790|Hernia;HP:0000501|Glaucoma;HP:0000703|Dentinogenesis imperfecta
cutaneous mastocytoma	HP:0001025|Urticaria;HP:0200151|Cutaneous mastocytosis;HP:0002027|Abdominal pain;HP:0001482|Subcutaneous nodule;HP:0001034|Hypermelanotic macule;HP:0000989|Pruritus;HP:0001000|Abnormality of skin pigmentation;HP:0001072|Thickened skin;HP:0008066|Abnormal blistering of the skin;HP:0002315|Headache
balkan nephropathy	HP:0000112|Nephropathy
mowat-wilson syndrome	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0000568|Microphthalmia;HP:0000307|Pointed chin;HP:0004322|Short stature;HP:0001629|Ventricular septal defect;HP:0002119|Ventriculomegaly;HP:0002019|Constipation;HP:0002213|Fine hair;HP:0000358|Posteriorly rotated ears;HP:0002251|Aganglionic megacolon;HP:0000218|High palate;HP:0000232|Everted lower lip vermilion;HP:0010761|Broad columella;HP:0000086|Ectopic kidney;HP:0000047|Hypospadias;HP:0000490|Deeply set eye;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0006101|Finger syndactyly;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0002007|Frontal bossing;HP:0000126|Hydronephrosis;HP:0002558|Supernumerary nipple;HP:0000486|Strabismus;HP:0002564|Malformation of the heart and great vessels;HP:0009748|Large earlobe;HP:0000316|Hypertelorism;HP:0000204|Cleft upper lip;HP:0001643|Patent ductus arteriosus;HP:0001636|Tetralogy of Fallot;HP:0002120|Cerebral cortical atrophy;HP:0000194|Open mouth;HP:0001869|Deep plantar creases;HP:0000048|Bifid scrotum;HP:0000076|Vesicoureteral reflux;HP:0000612|Iris coloboma;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0001822|Hallux valgus;HP:0000252|Microcephaly;HP:0001182|Tapered finger;HP:0000431|Wide nasal bridge;HP:0010059|Broad hallux phalanx;HP:0000348|High forehead;HP:0100490|Camptodactyly of finger;HP:0009909|Uplifted earlobe;HP:0001252|Muscular hypotonia;HP:0008572|External ear malformation;HP:0000534|Abnormality of the eyebrow
langer-giedion syndrome	HP:0002653|Bone pain;HP:0004322|Short stature;HP:0010230|Cone-shaped epiphyses of the phalanges of the hand;HP:0002119|Ventriculomegaly;HP:0005039|Multiple long-bone exostoses;HP:0001373|Joint dislocation;HP:0000010|Recurrent urinary tract infections;HP:0001156|Brachydactyly syndrome;HP:0007598|Bilateral single transverse palmar creases;HP:0002564|Malformation of the heart and great vessels;HP:0005743|Avascular necrosis of the capital femoral epiphysis;HP:0005692|Joint hyperflexibility;HP:0000343|Long philtrum;HP:0000164|Abnormality of the teeth;HP:0000574|Thick eyebrow;HP:0009118|Aplasia/Hypoplasia of the mandible;HP:0000076|Vesicoureteral reflux;HP:0001510|Growth delay;HP:0002209|Sparse scalp hair;HP:0000252|Microcephaly;HP:0002857|Genu valgum;HP:0000431|Wide nasal bridge;HP:0009928|Thick nasal alae;HP:0000405|Conductive hearing impairment;HP:0001249|Intellectual disability;HP:0000411|Protruding ear;HP:0001385|Hip dysplasia;HP:0001883|Talipes;HP:0000219|Thin upper lip vermilion;HP:0001582|Redundant skin;HP:0002750|Delayed skeletal maturation;HP:0100777|Exostoses;HP:0000368|Low-set, posteriorly rotated ears;HP:0000174|Abnormality of the palate;HP:0001252|Muscular hypotonia;HP:0000414|Bulbous nose;HP:0002002|Deep philtrum;HP:0011069|Increased number of teeth
factor xii deficiency	HP:0003645|Delayed thromboplastin generation;HP:0005542|Prolonged whole-blood clotting time;HP:0004841|Factor XII deficiency
cadasil	HP:0100576|Amaurosis fugax;HP:0000365|Hearing impairment;HP:0002354|Memory impairment;HP:0002637|Cerebral ischemia;HP:0002376|Developmental regression;HP:0006532|Recurrent pneumonia;HP:0001257|Spasticity;HP:0003236|Elevated serum creatine phosphokinase;HP:0001289|Confusion;HP:0009830|Peripheral neuropathy;HP:0000822|Hypertension;HP:0001943|Hypoglycemia;HP:0002120|Cerebral cortical atrophy;HP:0000407|Sensorineural hearing impairment;HP:0001276|Hypertonia;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0002071|Abnormality of extrapyramidal motor function;HP:0000763|Sensory neuropathy;HP:0001288|Gait disturbance;HP:0002301|Hemiplegia;HP:0001259|Coma;HP:0000726|Dementia;HP:0001945|Fever;HP:0002076|Migraine;HP:0001933|Subcutaneous hemorrhage;HP:0000505|Visual impairment;HP:0100309|Subdural hemorrhage;HP:0001136|Retinal arteriolar tortuosity;HP:0000716|Depression;HP:0006824|Cranial nerve paralysis;HP:0007328|Impaired pain sensation;HP:0002619|Varicose veins;HP:0012639|Abnormality of nervous system morphology;HP:0002381|Aphasia;HP:0002315|Headache;HP:0002621|Atherosclerosis
familial benign chronic pemphigus	HP:0010783|Erythema;HP:0000962|Hyperkeratosis;HP:0200041|Skin erosion;HP:0200037|Skin vesicle;HP:0100792|Acantholysis
systemic mastocytosis	HP:0001025|Urticaria;HP:0005789|Generalized osteosclerosis;HP:0005558|Chronic leukemia;HP:0002653|Bone pain;HP:0002027|Abdominal pain;HP:0002099|Asthma;HP:0002797|Osteolysis;HP:0004295|Abnormality of the gastric mucosa;HP:0001871|Abnormality of blood and blood-forming tissues;HP:0002829|Arthralgia;HP:0002716|Lymphadenopathy;HP:0003326|Myalgia;HP:0005528|Bone marrow hypocellularity;HP:0001409|Portal hypertension;HP:0001873|Thrombocytopenia;HP:0001882|Leukopenia;HP:0100326|Immunologic hypersensitivity;HP:0002017|Nausea and vomiting;HP:0001541|Ascites;HP:0001903|Anemia;HP:0001879|Abnormality of eosinophils;HP:0002024|Malabsorption;HP:0011675|Arrhythmia;HP:0002757|Recurrent fractures;HP:0000939|Osteoporosis;HP:0002240|Hepatomegaly;HP:0000988|Skin rash;HP:0010829|Impaired temperature sensation;HP:0001744|Splenomegaly;HP:0001394|Cirrhosis;HP:0001645|Sudden cardiac death;HP:0002488|Acute leukemia;HP:0100495|Mastocytosis;HP:0002315|Headache
porphyria variegata	HP:0002027|Abdominal pain;HP:0002019|Constipation;HP:0012531|Pain;HP:0002019|Dyschezia;HP:0000963|Thin skin;HP:0001289|Confusion;HP:0001053|Hypopigmented skin patches;HP:0002017|Nausea and vomiting;HP:0009830|Peripheral neuritis;HP:0001649|Tachycardia;HP:0002367|Visual hallucinations;HP:0008066|Abnormal blistering of the skin;HP:0000739|Anxiety;HP:0000992|Skin photosensitivity;HP:0001250|Seizures;HP:0000709|Psychosis;HP:0010473|Porphyrinuria;HP:0001324|Muscle weakness;HP:0000992|Cutaneous photosensitivity;HP:0007178|Motor polyneuropathy;HP:0000716|Depression;HP:0002013|Emesis;HP:0100699|Scarring
buerger disease	HP:0002829|Arthralgia;HP:0003401|Paresthesia;HP:0000975|Hyperhidrosis;HP:0002633|Vasculitis;HP:0000763|Sensory neuropathy;HP:0004420|Arterial thrombosis;HP:0100785|Insomnia;HP:0001063|Acrocyanosis;HP:0100758|Gangrene;HP:0200042|Skin ulcer
clear cell renal carcinoma	HP:0005584|Renal cell carcinoma
isolated polycystic liver disease	HP:0002020|Gastroesophageal reflux;HP:0003418|Back pain;HP:0003270|Abdominal distention;HP:0002239|Gastrointestinal hemorrhage;HP:0005562|Multiple renal cysts;HP:0006557|Polycystic liver disease;HP:0002093|Respiratory insufficiency;HP:0002617|Aneurysm;HP:0000107|Renal cyst;HP:0003155|Hyperphosphatasia;HP:0002027|Abdominal pain;HP:0003573|Increased bilirubin;HP:0001732|Abnormality of the pancreas;HP:0001626|Cardiovascular abnormality;HP:0003270|Distended abdomen;HP:0000707|Neurological abnormality;HP:0002086|Abnormality of the respiratory system;HP:0003573|Increased total bilirubin;HP:0001541|Ascites;HP:0002240|Hepatomegaly;HP:0008872|Feeding difficulties in infancy
berardinelli-seip congenital lipodystrophy	HP:0000826|Precocious puberty;HP:0001733|Pancreatitis;HP:0000336|Prominent supraorbital ridges;HP:0002119|Ventriculomegaly;HP:0000845|Growth hormone excess;HP:0001000|Abnormality of skin pigmentation;HP:0001176|Large hands;HP:0100545|Arterial stenosis;HP:0000876|Oligomenorrhea;HP:0000083|Renal insufficiency;HP:0100820|Glomerulopathy;HP:0000303|Mandibular prognathia;HP:0000855|Insulin resistance;HP:0003712|Skeletal muscle hypertrophy;HP:0009830|Peripheral neuropathy;HP:0000112|Nephropathy;HP:0001639|Hypertrophic cardiomyopathy;HP:0002155|Hypertriglyceridemia;HP:0009125|Lipodystrophy;HP:0100578|Lipoatrophy;HP:0000147|Polycystic ovaries;HP:0000975|Hyperhidrosis;HP:0001658|Myocardial infarction;HP:0001399|Hepatic failure;HP:0000163|Abnormality of the oral cavity;HP:0000842|Hyperinsulinemia;HP:0002757|Recurrent fractures;HP:0002230|Generalized hirsutism;HP:0001397|Hepatic steatosis;HP:0002240|Hepatomegaly;HP:0001760|Abnormality of the foot;HP:0001595|Abnormality of the hair;HP:0005616|Accelerated skeletal maturation;HP:0001249|Intellectual disability;HP:0001769|Broad foot;HP:0012062|Bone cyst;HP:0000141|Amenorrhea;HP:0001394|Cirrhosis;HP:0002721|Immunodeficiency;HP:0000819|Diabetes mellitus;HP:0001072|Thickened skin;HP:0002092|Pulmonary arterial hypertension;HP:0000956|Acanthosis nigricans
crouzon disease	HP:0011800|Midface retrusion;HP:0000262|Turricephaly;HP:0000520|Proptosis;HP:0000646|Amblyopia;HP:0000365|Hearing impairment;HP:0000453|Choanal atresia;HP:0000248|Brachycephaly;HP:0000929|Abnormality of the skull;HP:0001321|Cerebellar hypoplasia;HP:0000238|Hydrocephalus;HP:0000508|Ptosis;HP:0002007|Frontal bossing;HP:0001053|Hypopigmented skin patches;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0002516|Increased intracranial pressure;HP:0002308|Arnold-Chiari malformation;HP:0011324|Multiple suture craniosynostosis;HP:0011386|Narrow internal auditory canal;HP:0000612|Iris coloboma;HP:0005107|Abnormality of the sacrum;HP:0002093|Respiratory insufficiency;HP:0000327|Hypoplasia of the maxilla;HP:0001999|Abnormal facial shape;HP:0000648|Optic atrophy;HP:0000405|Conductive hearing impairment;HP:0000995|Melanocytic nevus;HP:0000348|High forehead;HP:0000444|Convex nasal ridge;HP:0000509|Conjunctivitis;HP:0000189|Narrow palate;HP:0000956|Acanthosis nigricans;HP:0002315|Headache
merrf	HP:0003198|Myopathic changes;HP:0001257|Spasticity;HP:0001250|Seizures;HP:0000407|Sensorineural hearing impairment;HP:0003542|Increased serum pyruvate;HP:0001251|Ataxia;HP:0003200|Ragged-red fibers;HP:0001012|Multiple lipomas;HP:0003200|Ragged-red muscle fibers;HP:0002123|Myoclonus seizures;HP:0100543|Cognitive impairment;HP:0002123|Generalized myoclonic seizures;HP:0003457|EMG abnormality;HP:0004322|Short stature;HP:0100022|Abnormality of movement;HP:0000407|sensorineural hearing loss;HP:0001324|Muscular weakness;HP:0003198|Myopathy;HP:0000648|Optic atrophy;HP:0002151|Increased serum lactate;HP:0001336|Myoclonic jerks
multiple acyl-coa dehydrogenase deficiency	HP:0002240|Enlarged liver;HP:0002089|Hypoplastic lungs;HP:0001325|Coma caused by low blood sugar;HP:0000256|Macrocrania;HP:0003490|Defective dehydrogenation of isovaleryl CoA and butyryl CoA;HP:0002098|Respiratory distress;HP:0002018|Nausea;HP:0000506|Telecanthus;HP:0000377|Malformation of auricle;HP:0002614|Hepatic periportal necrosis;HP:0001302|Cerebral pachygyria;HP:0001943|Hypoglycemia;HP:0000519|Cataracts, lenticular, bilateral;HP:0000803|Cortical cysts;HP:0001252|Hypotonia;HP:0001999|Facial dysmorphism;HP:0003219|Ethylmalonic aciduria;HP:0005280|Flat, nasal bridge;HP:0000260|Wide anterior fontanel;HP:0002909|Generalized nonspecific aminoaciduria;HP:0001324|Muscular weakness;HP:0000078|Genital abnormalities;HP:0001397|Hepatic steatosis;HP:0002171|Cerebral gliosis;HP:0003150|Glutaric aciduria;HP:0000114|Proximal tubular defect;HP:0000952|Yellow skin;HP:0003530|Glutaric acidemia;HP:0000348|High forehead;HP:0003647|Electron transfer flavoprotein-ubiquinone oxidoreductase defect;HP:0003076|Glucosuria;HP:0000113|Polycystic kidney dysplasia;HP:0002013|Emesis
congenital lymphedema	HP:0001597|Abnormality of the nail;HP:0001790|Nonimmune hydrops fetalis;HP:0007448|Hyperkeratosis over edematous areas;HP:0003550|Predominantly lower limb lymphedema;HP:0000034|Testicular hydrocele;HP:0001560|Abnormality of the amniotic fluid;HP:0001028|Strawberry mark;HP:0003759|Underdeveloped lymphatic vessels
vesicoureteral reflux	HP:0000924|Abnormality of the skeletal system;HP:0000076|Vesicoureteric reflux
microscopic polyangiitis	HP:0002239|Gastrointestinal hemorrhage;HP:0001733|Pancreatitis;HP:0000246|Sinusitis;HP:0008046|Abnormality of the retinal vasculature;HP:0002027|Abdominal pain;HP:0001482|Subcutaneous nodule;HP:0002960|Autoimmunity;HP:0002586|Peritonitis;HP:0012649|Increased inflammatory response;HP:0000083|Renal insufficiency;HP:0001635|Congestive heart failure;HP:0002829|Arthralgia;HP:0003401|Paresthesia;HP:0010783|Erythema;HP:0000965|Cutis marmorata;HP:0003326|Myalgia;HP:0100820|Glomerulopathy;HP:0002014|Diarrhea;HP:0009830|Peripheral neuropathy;HP:0100520|Oliguria;HP:0100534|Episcleritis;HP:0002017|Nausea and vomiting;HP:0200042|Skin ulcer;HP:0000790|Hematuria;HP:0002105|Hemoptysis;HP:0002633|Vasculitis;HP:0000554|Uveitis;HP:0004936|Venous thrombosis;HP:0011675|Arrhythmia;HP:0001945|Fever;HP:0001933|Subcutaneous hemorrhage;HP:0001701|Pericarditis;HP:0000988|Skin rash;HP:0005244|Gastrointestinal infarctions;HP:0000421|Epistaxis;HP:0001369|Arthritis;HP:0100758|Gangrene
kniest dysplasia	HP:0011800|Midface retrusion;HP:0000520|Proptosis;HP:0000311|Round facial shape;HP:0002777|Tracheal stenosis;HP:0000518|Cataract;HP:0003417|Coronal vertebral clefts;HP:0000541|Retinal detachment;HP:0003521|Disproportionate short-trunk short stature;HP:0000545|Myopia;HP:0000365|Hearing impairment;HP:0011800|Midface, flat;HP:0005930|Abnormality of epiphysis morphology;HP:0006172|Flattened, squared-off epiphyses of tubular bones;HP:0001373|Joint dislocation;HP:0005280|Depressed nasal bridge;HP:0002098|Respiratory distress;HP:0000508|Ptosis;HP:0000470|Decreased cervical height;HP:0010306|Short thorax;HP:0008839|Hypoplastic pelvis;HP:0000541|Detached retina;HP:0003015|Flared metaphysis;HP:0000347|Micrognathia;HP:0002652|Skeletal dysplasia;HP:0200003|Splayed end part of bone;HP:0003307|Hyperlordosis;HP:0000655|Vitreoretinal degeneration;HP:0002663|Delayed opacification of the epiphyses;HP:0000175|Palatoschisis;HP:0003015|Metaphyseal splaying;HP:0003037|Enlarged joints;HP:0001270|Motor retardation;HP:0002779|Tracheomalacia;HP:0000175|Cleft palate;HP:0001288|Gait disturbance;HP:0000545|Near sightedness;HP:0002650|Scoliosis;HP:0005280|Flat, nasal bridge;HP:0000162|Glossoptosis;HP:0000403|Otitis media, recurrent;HP:0004619|Lumbar kyphoscoliosis;HP:0001537|Umbilical hernias;HP:0002758|Osteoarthritis;HP:0002808|Kyphosis;HP:0000926|Platyspondyly;HP:0100625|Enlarged thorax;HP:0000311|Round face;HP:0000023|Inguinal hernia;HP:0000926|Flattened vertebral bodies;HP:0008271|Abnormal cartilage collagen;HP:0000520|Anterior bulging of the globe of eye;HP:0000272|Depressed malar region;HP:0002812|Coxa vara;HP:0001083|Ectopia lentis;HP:0000947|Dumbbell-shaped long bone;HP:0000405|Conductive hearing loss;HP:0008905|Rhizomelia;HP:0000488|Retinopathy;HP:0003273|Flexion contracture of hips;HP:0001387|Joint stiffness;HP:0002827|Hip dislocation;HP:0008839|Hypoplastic pelvic bones;HP:0000501|Glaucoma;HP:0000944|Abnormality of the metaphyses;HP:0002983|Micromelia
cockayne syndrome	HP:0000028|Cryptorchidism;HP:0000670|Carious teeth;HP:0000568|Microphthalmia;HP:0000518|Cataract;HP:0012378|Fatigue;HP:0004322|Short stature;HP:0001268|Mental deterioration;HP:0002213|Fine hair;HP:0000365|Hearing impairment;HP:0100585|Telangiectasia of the skin;HP:0001176|Large hands;HP:0007495|Prematurely aged appearance;HP:0000366|Abnormality of the nose;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0010783|Erythema;HP:0000987|Atypical scarring of skin;HP:0001257|Spasticity;HP:0000490|Deeply set eye;HP:0100820|Glomerulopathy;HP:0001251|Ataxia;HP:0000532|Chorioretinal abnormality;HP:0000486|Strabismus;HP:0009830|Peripheral neuropathy;HP:0001531|Failure to thrive in infancy;HP:0000822|Hypertension;HP:0000684|Delayed eruption of teeth;HP:0001639|Hypertrophic cardiomyopathy;HP:0002120|Cerebral cortical atrophy;HP:0000407|Sensorineural hearing impairment;HP:0004408|Abnormality of the sense of smell;HP:0002804|Arthrogryposis multiplex congenita;HP:0008066|Abnormal blistering of the skin;HP:0011968|Feeding difficulties;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0000077|Abnormality of the kidney;HP:0000252|Microcephaly;HP:0100022|Abnormality of movement;HP:0002514|Cerebral calcification;HP:0002808|Kyphosis;HP:0008070|Sparse hair;HP:0000648|Optic atrophy;HP:0000926|Platyspondyly;HP:0000762|Decreased nerve conduction velocity;HP:0001595|Abnormality of the hair;HP:0001760|Abnormality of the foot;HP:0007703|Abnormality of retinal pigmentation;HP:0001249|Intellectual disability;HP:0000202|Oral cleft;HP:0000488|Retinopathy;HP:0000992|Cutaneous photosensitivity;HP:0001015|Prominent superficial veins;HP:0001337|Tremor;HP:0001347|Hyperreflexia;HP:0000100|Nephrotic syndrome;HP:0000400|Macrotia;HP:0001387|Joint stiffness;HP:0010807|Open bite;HP:0100783|Breast aplasia;HP:0000174|Abnormality of the palate;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0007440|Generalized hyperpigmentation
acanthosis nigricans	HP:0000956|Keratosis nigricans
porokeratosis	HP:0000962|Hyperkeratosis;HP:0004334|Dermal atrophy;HP:0006739|Squamous cell carcinoma of the skin;HP:0000992|Cutaneous photosensitivity;HP:0000989|Pruritus;HP:0001000|Abnormality of skin pigmentation
achromatopsia	HP:0007793|Granular macular appearance;HP:0012043|Pendular nystagmus;HP:0007722|Loss of retinal pigment epithelium;HP:0000505|Visual impairment;HP:0000577|Exotropia;HP:0007641|Dyschromatopsia;HP:0000613|Photophobia;HP:0000603|Central scotoma;HP:0007803|Monochromacy;HP:0007843|Attenuation of retinal blood vessels;HP:0000540|Hypermetropia;HP:0007939|Blue cone monochromacy;HP:0000512|Abnormal electroretinogram;HP:0007750|Hypoplasia of the fovea
scleroderma	HP:0002034|Abnormality of the rectum;HP:0001025|Urticaria;HP:0000160|Narrow mouth;HP:0002239|Gastrointestinal hemorrhage;HP:0100639|Erectile abnormalities;HP:0012378|Fatigue;HP:0004378|Abnormality of the anus;HP:0002027|Abdominal pain;HP:0001482|Subcutaneous nodule;HP:0001824|Weight loss;HP:0001000|Abnormality of skin pigmentation;HP:0001697|Abnormality of the pericardium;HP:0002354|Memory impairment;HP:0001373|Joint dislocation;HP:0002575|Tracheoesophageal fistula;HP:0002793|Abnormal pattern of respiration;HP:0000217|Xerostomia;HP:0012718|Morphological abnormality of the gastrointestinal tract;HP:0000010|Recurrent urinary tract infections;HP:0002797|Osteolysis;HP:0100579|Mucosal telangiectasiae;HP:0100825|Cheilitis;HP:0000083|Renal insufficiency;HP:0001635|Congestive heart failure;HP:0001637|Abnormality of the myocardium;HP:0002829|Arthralgia;HP:0002091|Restrictive lung disease;HP:0003326|Myalgia;HP:0100526|Neoplasm of the lung;HP:0001053|Hypopigmented skin patches;HP:0002206|Pulmonary fibrosis;HP:0009830|Peripheral neuropathy;HP:0000934|Chondrocalcinosis;HP:0002113|Pulmonary infiltrates;HP:0000112|Nephropathy;HP:0002017|Nausea and vomiting;HP:0002577|Abnormality of the stomach;HP:0001639|Hypertrophic cardiomyopathy;HP:0011354|Generalized abnormality of skin;HP:0000790|Hematuria;HP:0200042|Skin ulcer;HP:0002024|Malabsorption;HP:0008872|Feeding difficulties in infancy;HP:0002020|Gastroesophageal reflux;HP:0000708|Behavioral abnormality;HP:0000962|Hyperkeratosis;HP:0001250|Seizures;HP:0002754|Osteomyelitis;HP:0000230|Gingivitis;HP:0001658|Myocardial infarction;HP:0002607|Bowel incontinence;HP:0000225|Gingival bleeding;HP:0011675|Arrhythmia;HP:0100585|Telangiectasia of the skin;HP:0000762|Decreased nerve conduction velocity;HP:0012735|Cough;HP:0001701|Pericarditis;HP:0100614|Myositis;HP:0012722|Heart block;HP:0004326|Cachexia;HP:0001394|Cirrhosis;HP:0000958|Dry skin;HP:0001369|Arthritis;HP:0001324|Muscle weakness;HP:0100261|Abnormal tendon morphology;HP:0100679|Lack of skin elasticity;HP:0100749|Chest pain;HP:0002960|Autoimmunity;HP:0001072|Thickened skin;HP:0006824|Cranial nerve paralysis;HP:0001063|Acrocyanosis;HP:0100758|Gangrene;HP:0002092|Pulmonary arterial hypertension;HP:0200034|Papule;HP:0003202|Skeletal muscle atrophy
boomerang dysplasia	HP:0000028|Cryptorchidism;HP:0008824|Small iliac bodies;HP:0006492|Aplasia/Hypoplasia of the fibula;HP:0002818|Abnormality of the radius;HP:0000824|Growth hormone deficiency;HP:0000430|Nasal cartilage hypoplasia;HP:0001789|Hydrops fetalis;HP:0006101|Finger syndactyly;HP:0003063|Abnormality of the humerus;HP:0010318|Aplasia/Hypoplasia of the abdominal wall musculature;HP:0003510|Proportionate dwarfism;HP:0000774|Narrow chest;HP:0002823|Abnormality of the femur;HP:0100569|Abnormal vertebral ossification;HP:0005104|Decreased size of septum of nose;HP:0011849|Abnormal bone ossification;HP:0001163|Abnormality of the metacarpal bones;HP:0001539|Omphalocele;HP:0100856|Poorly ossified vertebrae;HP:0002992|Abnormality of the tibia;HP:0000431|Broad nasal root;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0003974|Absent ossification/absence of radius;HP:0008890|Severe short-limb dwarfism;HP:0002990|Absent calf bone;HP:0002997|Abnormality of the ulna;HP:0002983|Micromelia;HP:0001561|Polyhydramnios
paroxysmal nocturnal hemoglobinuria	HP:0001915|Aplastic anemia;HP:0001977|Abnormal thrombosis;HP:0012378|Fatigue;HP:0002015|Dysphagia;HP:0002027|Abdominal pain;HP:0012492|Cerebral artery stenosis;HP:0002204|Pulmonary embolism;HP:0005528|Bone marrow hypocellularity;HP:0012211|Abnormal renal physiology;HP:0100724|Hypercoagulability;HP:0001681|Angina pectoris;HP:0001878|Hemolytic anemia;HP:0001876|Pancytopenia;HP:0001658|Myocardial infarction;HP:0001908|Hypoplastic anemia;HP:0004808|Acute myeloid leukemia;HP:0001892|Abnormal bleeding;HP:0003641|Hemoglobinuria;HP:0001324|Muscle weakness;HP:0002326|Transient ischemic attack;HP:0002863|Myelodysplasia;HP:0002092|Pulmonary arterial hypertension;HP:0001907|Thromboembolism;HP:0000980|Pallor
cushing syndrome	HP:0001061|Acne;HP:0001065|Striae distensae;HP:0000787|Nephrolithiasis;HP:0010978|Abnormality of immune system physiology;HP:0000518|Cataract;HP:0012378|Fatigue;HP:0100639|Erectile abnormalities;HP:0000978|Bruising susceptibility;HP:0002027|Abdominal pain;HP:0100585|Telangiectasia of the skin;HP:0001644|Dilated cardiomyopathy;HP:0003124|Hypercholesterolemia;HP:0003198|Myopathy;HP:0004295|Abnormality of the gastric mucosa;HP:0000869|Secondary amenorrhea;HP:0000963|Thin skin;HP:0002902|Hyponatremia;HP:0000822|Hypertension;HP:0004372|Reduced consciousness/confusion;HP:0000979|Purpura;HP:0000858|Menstrual irregularities;HP:0000739|Anxiety;HP:0001510|Growth delay;HP:0007552|Abnormal subcutaneous fat tissue distribution;HP:0002900|Hypokalemia;HP:0002757|Recurrent fractures;HP:0000939|Osteoporosis;HP:0000709|Psychosis;HP:0002230|Generalized hirsutism;HP:0001578|Hypercortisolism;HP:0000311|Round face;HP:0002360|Sleep disturbance;HP:0003072|Hypercalcemia;HP:0100631|Neoplasm of the adrenal gland;HP:0001324|Muscle weakness;HP:0000819|Diabetes mellitus;HP:0001956|Truncal obesity;HP:0000716|Depression;HP:0000737|Irritability;HP:0010885|Aseptic necrosis;HP:0000144|Decreased fertility
rapadilino syndrome	HP:0002705|High, narrow palate;HP:0006501|Absent/underdeveloped radius;HP:0001373|Joint dislocations;HP:0004322|Stature below 3rd percentile;HP:0005198|Stiff interphalangeal joints;HP:0009777|Absent thumbs;HP:0000581|Blepharophimosis;HP:0002014|Diarrhea;HP:0000276|Long face;HP:0000365|Hearing impairment;HP:0001070|Mottled pigmentation;HP:0000175|Palatoschisis;HP:0000331|Decreased height of chin;HP:0006498|Absent/underdeveloped kneecap;HP:0000417|Slender nose
piebaldism	HP:0002211|White forelock;HP:0012733|Macule;HP:0007544|Piebaldism;HP:0001251|Ataxia;HP:0001053|Hypopigmented skin patches;HP:0005599|Hypopigmentation of hair;HP:0000252|Microcephaly;HP:0001100|Heterochromia iridis;HP:0000343|Long philtrum;HP:0000365|Hearing impairment;HP:0002226|White eyebrow;HP:0000664|Synophrys;HP:0002251|Aganglionic megacolon;HP:0002648|Abnormality of calvarial morphology;HP:0001252|Muscular hypotonia;HP:0000431|Wide nasal bridge;HP:0002227|White eyelashes;HP:0008069|Neoplasm of the skin;HP:0001249|Intellectual disability
felty syndrome	HP:0000246|Sinusitis;HP:0004332|Abnormality of lymphocytes;HP:0002960|Autoimmunity;HP:0001482|Subcutaneous nodule;HP:0001824|Weight loss;HP:0012384|Rhinitis;HP:0006532|Recurrent pneumonia;HP:0001376|Limitation of joint mobility;HP:0100806|Sepsis;HP:0000010|Recurrent urinary tract infections;HP:0002797|Osteolysis;HP:0002205|Recurrent respiratory infections;HP:0002829|Arthralgia;HP:0002102|Pleuritis;HP:0002716|Lymphadenopathy;HP:0005528|Bone marrow hypocellularity;HP:0001873|Thrombocytopenia;HP:0002206|Pulmonary fibrosis;HP:0009830|Peripheral neuropathy;HP:0100769|Synovitis;HP:0100534|Episcleritis;HP:0100776|Recurrent pharyngitis;HP:0002719|Recurrent infections;HP:0001903|Anemia;HP:0002665|Lymphoma;HP:0007400|Irregular hyperpigmentation;HP:0001367|Abnormal joint morphology;HP:0000389|Chronic otitis media;HP:0001875|Neutropenia;HP:0002240|Hepatomegaly;HP:0001370|Rheumatoid arthritis;HP:0001701|Pericarditis;HP:0001744|Splenomegaly;HP:0100658|Cellulitis;HP:0002721|Immunodeficiency;HP:0001369|Arthritis;HP:0007440|Generalized hyperpigmentation
fibrochondrogenesis	HP:0001357|Plagiocephaly;HP:0000160|Narrow mouth;HP:0000470|Short neck;HP:0000520|Proptosis;HP:0004322|Short stature;HP:0005280|Depressed nasal bridge;HP:0001156|Brachydactyly syndrome;HP:0000773|Short ribs;HP:0002983|Micromelia;HP:0000369|Low-set ears;HP:0000316|Hypertelorism;HP:0000774|Narrow chest;HP:0000772|Abnormality of the ribs;HP:0000494|Downslanted palpebral fissures;HP:0000175|Cleft palate;HP:0003312|Abnormal form of the vertebral bodies;HP:0002093|Respiratory insufficiency;HP:0000260|Wide anterior fontanel;HP:0001539|Omphalocele;HP:0000311|Round face;HP:0001591|Bell-shaped thorax;HP:0000364|Hearing abnormality;HP:0000463|Anteverted nares;HP:0000885|Broad ribs;HP:0100490|Camptodactyly of finger;HP:0001804|Hypoplastic fingernail;HP:0000944|Abnormality of the metaphyses;HP:0000882|Hypoplastic scapulae;HP:0000940|Abnormal diaphysis morphology
pyomyositis	HP:0100616|Testicular teratoma;HP:0001974|Leukocytosis;HP:0003326|Myalgia;HP:0001645|Sudden cardiac death;HP:0100838|Recurrent cutaneous abscess formation;HP:0001482|Subcutaneous nodule;HP:0001824|Weight loss;HP:0001945|Fever;HP:0100806|Sepsis;HP:0002719|Recurrent infections;HP:0100614|Myositis;HP:0000083|Renal insufficiency
aspartylglucosaminuria	HP:0008430|Anterior beaking of lumbar vertebrae;HP:0000670|Carious teeth;HP:0004337|Abnormality of amino acid metabolism;HP:0003196|Short nose;HP:0011276|Vascular skin abnormality;HP:0003103|Abnormal cortical bone morphology;HP:0100660|Dyskinesia;HP:0012068|Aspartylglucosaminuria;HP:0100729|Large face;HP:0000750|Delayed speech and language development;HP:0002205|Recurrent respiratory infections;HP:0000303|Mandibular prognathia;HP:0001537|Umbilical hernia;HP:0002167|Neurological speech impairment;HP:0000316|Hypertelorism;HP:0000158|Macroglossia;HP:0000164|Abnormality of the teeth;HP:0012471|Thick vermilion border;HP:0002024|Malabsorption;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0002650|Scoliosis;HP:0000389|Chronic otitis media;HP:0003468|Abnormality of the vertebrae;HP:0001999|Abnormal facial shape;HP:0002240|Hepatomegaly;HP:0000431|Wide nasal bridge;HP:0000023|Inguinal hernia;HP:0002360|Sleep disturbance;HP:0001249|Intellectual disability;HP:0000053|Macroorchidism;HP:0001744|Splenomegaly;HP:0001369|Arthritis;HP:0001387|Joint stiffness;HP:0002750|Delayed skeletal maturation;HP:0001763|Pes planus;HP:0000280|Coarse facial features;HP:0004568|Beaking of vertebral bodies;HP:0000212|Gingival overgrowth;HP:0008551|Microtia;HP:0002997|Abnormality of the ulna;HP:0000768|Pectus carinatum;HP:0002684|Thickened calvaria
pulmonary arterial hypertension	HP:0001635|Congestive heart failure;HP:0001962|Palpitations;HP:0001702|Abnormality of the tricuspid valve;HP:0002094|Dyspnea;HP:0002321|Vertigo;HP:0001645|Sudden cardiac death;HP:0002105|Hemoptysis;HP:0010741|Edema of the lower limbs;HP:0012378|Fatigue;HP:0100749|Chest pain;HP:0001063|Acrocyanosis;HP:0002240|Hepatomegaly;HP:0001541|Ascites;HP:0005306|Capillary hemangiomas;HP:0002205|Recurrent respiratory infections
waardenburg syndrome	HP:0002216|Premature graying of hair;HP:0002211|White forelock;HP:0000365|Hearing impairment;HP:0001000|Abnormality of skin pigmentation;HP:0002251|Aganglionic megacolon;HP:0100811|Aplasia/Hypoplasia of the colon;HP:0000508|Ptosis;HP:0005214|Intestinal obstruction;HP:0000130|Abnormality of the uterus;HP:0000506|Telecanthus;HP:0001053|Hypopigmented skin patches;HP:0000271|Abnormality of the face;HP:0000478|Abnormality of the eye;HP:0000632|Lacrimation abnormality;HP:0000153|Abnormality of the mouth;HP:0000159|Abnormality of the lip;HP:0005599|Hypopigmentation of hair;HP:0001100|Heterochromia iridis;HP:0002475|Myelomeningocele;HP:0000664|Synophrys;HP:0001999|Abnormal facial shape;HP:0000431|Wide nasal bridge;HP:0000405|Conductive hearing impairment;HP:0000202|Oral cleft;HP:0000426|Prominent nasal bridge;HP:0000142|Abnormality of the vagina;HP:0000504|Abnormality of vision;HP:0011024|Abnormality of the gastrointestinal tract;HP:0000534|Abnormality of the eyebrow;HP:0000430|Underdeveloped nasal alae
tardive dyskinesia	HP:0000707|Neurological abnormality;HP:0040141|Tardive dyskinesia
myositis	HP:0003701|Proximal limb muscle weakness;HP:0100614|Muscle inflammation
cogan syndrome	HP:0001974|Leukocytosis;HP:0003565|Elevated erythrocyte sedimentation rate;HP:0002633|Vasculitis;HP:0002321|Vertigo;HP:0000554|Uveitis;HP:0000618|Blindness;HP:0100532|Scleritis;HP:0100533|Inflammatory abnormality of the eye;HP:0001903|Anemia;HP:0000613|Photophobia;HP:0000509|Conjunctivitis;HP:0100534|Episcleritis;HP:0001659|Aortic regurgitation;HP:0005310|Large vessel vasculitis;HP:0000491|Keratitis;HP:0000407|Sensorineural hearing impairment;HP:0000360|Tinnitus;HP:0007663|Reduced visual acuity;HP:0001894|Thrombocytosis
complete androgen insensitivity syndrome	HP:0000028|Cryptorchidism;HP:0000786|Primary amenorrhea;HP:0000037|Male pseudohermaphroditism;HP:0000771|Gynecomastia;HP:0000763|Sensory neuropathy;HP:0000787|Nephrolithiasis;HP:0000789|Infertility;HP:0000151|Aplasia of the uterus;HP:0001337|Tremor;HP:0002555|Absent pubic hair;HP:0008655|Aplasia/Hypoplasia of the fallopian tube;HP:0000939|Osteoporosis;HP:0002221|Absent axillary hair;HP:0003394|Muscle cramps;HP:0000030|Testicular gonadoblastoma;HP:0000023|Inguinal hernia
evans syndrome	HP:0000967|Petechiae;HP:0001973|Autoimmune thrombocytopenia;HP:0002094|Dyspnea;HP:0000421|Epistaxis;HP:0001324|Muscle weakness;HP:0012378|Fatigue;HP:0001254|Lethargy;HP:0001904|Autoimmune neutropenia;HP:0001279|Syncope;HP:0000978|Bruising susceptibility;HP:0001890|Autoimmune hemolytic anemia;HP:0000952|Jaundice;HP:0000980|Pallor
fucosidosis	HP:0008430|Anterior beaking of lumbar vertebrae;HP:0001263|Global developmental delay;HP:0010864|Intellectual disability, severe;HP:0007256|Abnormal pyramidal signs;HP:0011276|Vascular skin abnormality;HP:0000943|Dysostosis multiplex;HP:0000365|Hearing impairment;HP:0000248|Brachycephaly;HP:0001257|Spasticity;HP:0000164|Abnormality of the teeth;HP:0001640|Cardiomegaly;HP:0100578|Lipoatrophy;HP:0001250|Seizures;HP:0003199|Decreased muscle mass;HP:0000975|Hyperhidrosis;HP:0007957|Corneal opacity;HP:0005595|Generalized hyperkeratosis;HP:0001999|Abnormal facial shape;HP:0002808|Kyphosis;HP:0001508|Failure to thrive;HP:0002240|Hepatomegaly;HP:0005264|Abnormality of the gallbladder;HP:0002510|Spastic tetraplegia;HP:0001597|Abnormality of the nail;HP:0001626|Abnormality of the cardiovascular system;HP:0008155|Mucopolysacchariduria;HP:0000280|Coarse facial features;HP:0001063|Acrocyanosis;HP:0001252|Muscular hypotonia;HP:0011220|Prominent forehead;HP:0000821|Hypothyroidism
cohen syndrome	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0000492|Abnormality of the eyelid;HP:0000568|Microphthalmia;HP:0100874|Thick hair;HP:0004322|Short stature;HP:0001629|Ventricular septal defect;HP:0000545|Myopia;HP:0001166|Arachnodactyly;HP:0001612|Weak cry;HP:0001000|Abnormality of skin pigmentation;HP:0000527|Long eyelashes;HP:0200046|Cat cry;HP:0000767|Pectus excavatum;HP:0010295|Aplasia/Hypoplasia of the tongue;HP:0000347|Micrognathia;HP:0006101|Finger syndactyly;HP:0000486|Strabismus;HP:0002167|Neurological speech impairment;HP:0005692|Joint hyperflexibility;HP:0001531|Failure to thrive in infancy;HP:0001852|Sandal gap;HP:0000164|Abnormality of the teeth;HP:0009906|Aplasia/Hypoplasia of the earlobes;HP:0000574|Thick eyebrow;HP:0001511|Intrauterine growth retardation;HP:0004283|Narrow palm;HP:0000407|Sensorineural hearing impairment;HP:0000194|Open mouth;HP:0000384|Preauricular skin tag;HP:0000612|Iris coloboma;HP:0000494|Downslanted palpebral fissures;HP:0008872|Feeding difficulties in infancy;HP:0001250|Seizures;HP:0000327|Hypoplasia of the maxilla;HP:0000294|Low anterior hairline;HP:0000252|Microcephaly;HP:0002650|Scoliosis;HP:0001182|Tapered finger;HP:0003272|Abnormality of the hip bone;HP:0002808|Kyphosis;HP:0000648|Optic atrophy;HP:0000823|Delayed puberty;HP:0001875|Neutropenia;HP:0002857|Genu valgum;HP:0004209|Clinodactyly of the 5th finger;HP:0001572|Macrodontia;HP:0007703|Abnormality of retinal pigmentation;HP:0001135|Chorioretinal dystrophy;HP:0011308|Slender toe;HP:0001249|Intellectual disability;HP:0002705|High, narrow palate;HP:0000322|Short philtrum;HP:0000426|Prominent nasal bridge;HP:0001558|Decreased fetal movement;HP:0001634|Mitral valve prolapse;HP:0001513|Obesity;HP:0002967|Cubitus valgus;HP:0000499|Abnormality of the eyelashes;HP:0000212|Gingival overgrowth;HP:0001252|Muscular hypotonia;HP:0009804|Reduced number of teeth;HP:0010669|Cheekbone underdevelopment
anencephaly	HP:0002414|Spina bifida;HP:0002323|Anencephaly
klatskin tumor	HP:0002716|Lymphadenopathy;HP:0004936|Venous thrombosis;HP:0012378|Fatigue;HP:0030153|Cholangiocarcinoma;HP:0002027|Abdominal pain;HP:0001824|Weight loss;HP:0012334|Extrahepatic cholestasis;HP:0001945|Fever;HP:0002240|Hepatomegaly;HP:0000952|Jaundice
thymic carcinoma	HP:0005345|Abnormality of the vena cava;HP:0003473|Fatigable weakness;HP:0000975|Hyperhidrosis;HP:0002094|Dyspnea;HP:0100521|Neoplasm of the thymus;HP:0012378|Fatigue;HP:0100721|Mediastinal lymphadenopathy;HP:0100749|Chest pain;HP:0001824|Weight loss;HP:0006597|Diaphragmatic paralysis;HP:0012735|Cough;HP:0100540|Palpebral edema;HP:0000969|Edema
scrub typhus	HP:0012733|Macule;HP:0002094|Dyspnea;HP:0002027|Abdominal pain;HP:0001287|Meningitis;HP:0002383|Encephalitis;HP:0000083|Renal insufficiency;HP:0002716|Lymphadenopathy;HP:0002091|Restrictive lung disease;HP:0003326|Myalgia;HP:0001254|Lethargy;HP:0002615|Hypotension;HP:0002017|Nausea and vomiting;HP:0004372|Reduced consciousness/confusion;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0000975|Hyperhidrosis;HP:0012122|Anterior uveitis;HP:0001945|Fever;HP:0012819|Myocarditis;HP:0012735|Cough;HP:0000988|Skin rash;HP:0001892|Abnormal bleeding;HP:0001744|Splenomegaly;HP:0001337|Tremor;HP:0000613|Photophobia;HP:0100758|Gangrene;HP:0002315|Headache
opsismodysplasia	HP:0008905|Rhizomelic short limbs;HP:0000239|Persistent wide fontanel;HP:0000239|Large fontanelles;HP:0003196|Short nose;HP:0000463|Nostrils anteverted;HP:0000256|Macrocrania;HP:0000592|Blue sclerae;HP:0000316|Increased distance between eye sockets;HP:0002205|Frequent respiratory infections;HP:0005930|Abnormality of epiphysis morphology;HP:0003026|shortened long tubular bones;HP:0000343|Vertical hyperplasia of philtrum;HP:0004565|Severe platyspondyly;HP:0005280|Depressed nasal bridge;HP:0000767|Pectus excavatum;HP:0001561|Hydramnios;HP:0000470|Decreased cervical height;HP:0001156|Brachydactyly syndrome;HP:0002205|Recurrent respiratory infections;HP:0008479|Hypoplastic vertebral bodies;HP:0000117|Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate;HP:0008873|Dwarfism, short-limbed;HP:0002007|Frontal bossing;HP:0004279|Hypoplastic hands;HP:0003177|Squared iliac bones;HP:0000774|Narrow chest;HP:0002007|Frontal protruberance;HP:0003175|Hypoplastic ischia;HP:0100569|Abnormal vertebral ossification;HP:0001538|Protuberant abdomen;HP:0001252|Hypotonia;HP:0000907|Anteriorly splayed ribs;HP:0002093|Respiratory insufficiency;HP:0000256|Macrocephaly;HP:0008479|Small vertebrae;HP:0005469|Flat occiput;HP:0003180|Flat acetabular roof;HP:0005280|Flat, nasal bridge;HP:0000774|Low chest circumference;HP:0001182|Tapered finger;HP:0000969|Dropsy;HP:0002240|Hepatomegaly;HP:0003173|Hypoplastic pubic bones;HP:0001591|Narrow, bell-shaped thorax;HP:0002148|Hypophosphataemia;HP:0001744|Splenomegaly;HP:0000922|Anterior and posterior rib cupping;HP:0003510|Severe short stature;HP:0001387|Joint stiffness;HP:0002750|Delayed skeletal maturation;HP:0011304|Broad thumb;HP:0001773|Small feet;HP:0003177|Squaring of iliac bones;HP:0003021|Metaphyseal cupping;HP:0001252|Muscular hypotonia;HP:0000944|Abnormality of the metaphyses;HP:0003175|Hypoplastic ischium;HP:0003173|Hypoplastic pubic bone
bruck syndrome	HP:0006487|Bowing of the long bones;HP:0002093|Respiratory insufficiency;HP:0001387|Joint stiffness;HP:0004322|Short stature;HP:0002650|Scoliosis;HP:0001762|Talipes equinovarus;HP:0001059|Pterygium;HP:0002757|Recurrent fractures;HP:0000939|Osteoporosis;HP:0000325|Triangular face;HP:0002808|Kyphosis;HP:0002645|Wormian bones;HP:0000926|Platyspondyly;HP:0002804|Arthrogryposis multiplex congenita
schnitzler syndrome	HP:0000988|Skin rash;HP:0001025|Urticaria;HP:0002716|Lymphadenopathy;HP:0001744|Splenomegaly;HP:0001974|Leukocytosis;HP:0002633|Vasculitis;HP:0002829|Arthralgia;HP:0003326|Myalgia;HP:0002665|Lymphoma;HP:0001369|Arthritis;HP:0011001|Increased bone mineral density;HP:0012378|Fatigue;HP:0002653|Bone pain;HP:0003496|Increased IgM level;HP:0009830|Peripheral neuropathy;HP:0000989|Pruritus;HP:0001945|Fever;HP:0002240|Hepatomegaly;HP:0200034|Papule;HP:0012733|Macule;HP:0001903|Anemia
monilethrix	HP:0001597|Abnormality of the nail;HP:0000518|Cataract;HP:0001006|Hypotrichosis;HP:0100543|Cognitive impairment;HP:0100753|Schizophrenia;HP:0002217|Slow-growing hair;HP:0002213|Fine hair;HP:0000499|Abnormality of the eyelashes;HP:0000164|Abnormality of the teeth;HP:0007502|Follicular hyperkeratosis;HP:0002299|Brittle hair;HP:0002232|Patchy alopecia;HP:0000534|Abnormality of the eyebrow;HP:0001249|Intellectual disability
infantile myofibromatosis	HP:0001482|Subcutaneous nodule;HP:0000929|Abnormality of the skull;HP:0002575|Tracheoesophageal fistula;HP:0001376|Limitation of joint mobility;HP:0002797|Osteolysis;HP:0008069|Neoplasm of the skin;HP:0000169|Gingival fibromatosis;HP:0005214|Intestinal obstruction;HP:0010614|Fibroma;HP:0100526|Neoplasm of the lung;HP:0003011|Abnormality of the musculature;HP:0000934|Chondrocalcinosis;HP:0200042|Skin ulcer;HP:0004374|Hemiplegia/hemiparesis;HP:0000271|Abnormality of the face;HP:0000478|Abnormality of the eye;HP:0005107|Abnormality of the sacrum;HP:0000077|Abnormality of the kidney;HP:0007400|Irregular hyperpigmentation;HP:0100242|Sarcoma;HP:0001595|Abnormality of the hair;HP:0012062|Bone cyst;HP:0003072|Hypercalcemia;HP:0002894|Neoplasm of the pancreas;HP:0002242|Abnormality of the intestine;HP:0000765|Abnormality of the thorax;HP:0100835|Benign neoplasm of the central nervous system;HP:0000944|Abnormality of the metaphyses
thymoma	HP:0002094|Dyspnea;HP:0012378|Fatigue;HP:0002015|Dysphagia;HP:0004332|Abnormality of lymphocytes;HP:0001376|Limitation of joint mobility;HP:0000217|Xerostomia;HP:0000508|Ptosis;HP:0002716|Lymphadenopathy;HP:0100646|Thyroiditis;HP:0003473|Fatigable weakness;HP:0004313|Decreased antibody level in blood;HP:0010976|B lymphocytopenia;HP:0002585|Abnormality of the peritoneum;HP:0001878|Hemolytic anemia;HP:0001876|Pancytopenia;HP:0100521|Neoplasm of the thymus;HP:0012819|Myocarditis;HP:0000651|Diplopia;HP:0012735|Cough;HP:0002103|Abnormality of the pleura;HP:0001701|Pericarditis;HP:0045026|Abnormality of the mediastinum;HP:0100614|Myositis;HP:0000988|Skin rash;HP:0001097|Keratoconjunctivitis sicca;HP:0001596|Alopecia;HP:0001369|Arthritis;HP:0006530|Interstitial pulmonary disease;HP:0000100|Nephrotic syndrome;HP:0100749|Chest pain
tarsal-carpal coalition syndrome	HP:0008368|Tarsal synostosis;HP:0004322|Short stature;HP:0003028|Abnormality of the ankles
placental site trophoblastic tumor	HP:0005268|Spontaneous abortion;HP:0011434|Low maternal serum chorionic gonadotropin;HP:0000141|Amenorrhea;HP:0100608|Metrorrhagia
acrodermatitis enteropathica	HP:0000157|Abnormality of the tongue;HP:0002240|Enlarged liver;HP:0000492|Abnormality of the eyelid;HP:0004322|Short stature;HP:0001824|Weight loss;HP:0008734|Decreased testicular size;HP:0005435|Impaired T cell function;HP:0100825|Cheilitis;HP:0001807|Ridged nail;HP:0000135|Hypogonadism;HP:0010783|Erythema;HP:0000712|Emotional instability;HP:0004322|Stature below 3rd percentile;HP:0001251|Ataxia;HP:0002014|Diarrhea;HP:0001254|Lethargy;HP:0200020|Corneal erosion;HP:0002028|Chronic diarrhea;HP:0000206|Glossitis;HP:0011354|Generalized abnormality of skin;HP:0002120|Cerebral cortical atrophy;HP:0002293|Scalp hair loss;HP:0200042|Skin ulcer;HP:0000224|Decreased taste;HP:0008066|Abnormal blistering of the skin;HP:0008402|Ridged fingernail;HP:0002024|Malabsorption;HP:0000221|Furrowed tongue;HP:0008230|Decreased testosterone in males;HP:0005401|Recurrent candida infections;HP:0000498|Blepharitis;HP:0001508|Weight faltering;HP:0003282|Decreased serum alkaline phosphatase;HP:0001508|Failure to thrive;HP:0000712|Emotional lability;HP:0001597|Abnormality of the nail;HP:0004396|Poor appetite;HP:0001744|Splenomegaly;HP:0001596|Alopecia;HP:0000505|Visual impairment;HP:0000958|Dry skin;HP:0001337|Tremor;HP:0001818|Paronychia;HP:0000613|Photophobia;HP:0000509|Conjunctivitis;HP:0000737|Irritability;HP:0002039|Anorexia;HP:0200039|Pustule;HP:0000534|Abnormality of the eyebrow
laurence-moon syndrome	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0000518|Cataract;HP:0004322|Short stature;HP:0000248|Brachycephaly;HP:0008736|Hypoplasia of penis;HP:0001156|Brachydactyly syndrome;HP:0000083|Renal insufficiency;HP:0007598|Bilateral single transverse palmar creases;HP:0001251|Ataxia;HP:0006101|Finger syndactyly;HP:0002564|Malformation of the heart and great vessels;HP:0000486|Strabismus;HP:0000407|Sensorineural hearing impairment;HP:0000612|Iris coloboma;HP:0002612|Congenital hepatic fibrosis;HP:0005978|Type II diabetes mellitus;HP:0000286|Epicanthus;HP:0100627|Displacement of the external urethral meatus;HP:0009896|Abnormality of the antitragus;HP:0001249|Intellectual disability;HP:0001513|Obesity;HP:0000368|Low-set, posteriorly rotated ears;HP:0001161|Hand polydactyly
hypochondroplasia	HP:0001831|Short toe;HP:0009811|Abnormality of the elbow;HP:0000944|Abnormality of the metaphyses;HP:0003312|Abnormal form of the vertebral bodies;HP:0002970|Genu varum;HP:0002652|Skeletal dysplasia;HP:0000256|Macrocephaly;HP:0006487|Bowing of the long bones;HP:0003307|Hyperlordosis;HP:0003416|Spinal canal stenosis;HP:0002650|Scoliosis;HP:0005692|Joint hyperflexibility;HP:0010535|Sleep apnea;HP:0002758|Osteoarthritis;HP:0001156|Brachydactyly syndrome;HP:0002823|Abnormality of the femur;HP:0011405|Childhood onset short-limb short stature;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0002983|Micromelia;HP:0001249|Intellectual disability
megalencephaly	HP:0000053|Macroorchidism;HP:0000470|Short neck;HP:0000490|Deeply set eye;HP:0000256|Macrocephaly;HP:0000269|Prominent occiput;HP:0002007|Frontal bossing;HP:0001355|Macrencephaly;HP:0000307|Pointed chin;HP:0002750|Delayed skeletal maturation;HP:0000431|Wide nasal bridge;HP:0000235|Abnormality of the fontanelles or cranial sutures;HP:0001956|Truncal obesity;HP:0000040|Long penis;HP:0002857|Genu valgum;HP:0000268|Dolichocephaly;HP:0001631|Atrial septal defect;HP:0001249|Mental retardation;HP:0001249|Intellectual disability
nance-horan syndrome	HP:0000639|Nystagmus;HP:0000708|Behavioral abnormality;HP:0000411|Protruding ear;HP:0000426|Prominent nasal bridge;HP:0000568|Microphthalmia;HP:0000303|Mandibular prognathia;HP:0000501|Glaucoma;HP:0000505|Visual impairment;HP:0000518|Cataract;HP:0000276|Long face;HP:0000486|Strabismus;HP:0000541|Retinal detachment;HP:0000572|Visual loss;HP:0001249|Intellectual disability;HP:0000164|Abnormality of the teeth;HP:0000448|Prominent nose;HP:0011069|Increased number of teeth;HP:0010049|Short metacarpal;HP:0000482|Microcornea
blau syndrome	HP:0000585|Band keratopathy;HP:0002094|Dyspnea;HP:0000518|Cataract;HP:0004942|Aortic aneurysm;HP:0008046|Abnormality of the retinal vasculature;HP:0000598|Ear anomaly;HP:0000587|Abnormality of the optic nerve;HP:0010628|Facial palsy;HP:0000572|Visual loss;HP:0000217|Xerostomia;HP:0000953|Hyperpigmentation of the skin;HP:0001376|Limitation of joint mobility;HP:0010783|Erythema;HP:0002829|Arthralgia;HP:0002716|Lymphadenopathy;HP:0012219|Erythema nodosum;HP:0007432|Intermittent generalized erythematous papular rash;HP:0100769|Synovitis;HP:0001291|Abnormality of the cranial nerves;HP:0000822|Hypertension;HP:0000112|Nephropathy;HP:0200042|Skin ulcer;HP:0007813|Nongranulomatous uveitis;HP:0003774|Stage 5 chronic kidney disease;HP:0005310|Large vessel vasculitis;HP:0005764|Polyarticular arthritis;HP:0012647|Abnormal inflammatory response;HP:0200034|Papule;HP:0001903|Anemia;HP:0005830|Flexion contracture of toe;HP:0000554|Uveitis;HP:0100654|Retrobulbar optic neuritis;HP:0001094|Iridocyclitis;HP:0010286|Abnormality of the salivary glands;HP:0001386|Joint swelling;HP:0001392|Abnormality of the liver;HP:0001945|Fever;HP:0000491|Keratitis;HP:0001701|Pericarditis;HP:0011505|Cystoid macular edema;HP:0006770|Clear cell renal cell carcinoma;HP:0000988|Skin rash;HP:0001744|Splenomegaly;HP:0000958|Dry skin;HP:0001369|Arthritis;HP:0012123|Posterior uveitis;HP:0000488|Retinopathy;HP:0000610|Abnormality of the choroid;HP:0001291|Cranial nerve disease;HP:0000613|Photophobia;HP:0100490|Camptodactyly of finger;HP:0001101|Iritis;HP:0000964|Eczema;HP:0002092|Pulmonary arterial hypertension;HP:0000501|Glaucoma;HP:0008064|Ichthyosis
early myoclonic encephalopathy	HP:0002353|EEG abnormality;HP:0001263|Global developmental delay;HP:0012469|Infantile spasms;HP:0001336|Myoclonus;HP:0001347|Hyperreflexia;HP:0001254|Lethargy;HP:0002015|Dysphagia;HP:0011968|Feeding difficulties;HP:0011167|Focal tonic seizures;HP:0002521|Hypsarrhythmia;HP:0001252|Muscular hypotonia;HP:0002033|Poor suck;HP:0002123|Generalized myoclonic seizures;HP:0011168|Eyelid myoclonias;HP:0011153|Focal motor seizures;HP:0200134|Epileptic encephalopathy;HP:0002205|Recurrent respiratory infections
adenine phosphoribosyltransferase deficiency	HP:0100518|Dysuria;HP:0000787|Nephrolithiasis;HP:0003774|Stage 5 chronic kidney disease;HP:0000790|Hematuria;HP:0000010|Recurrent urinary tract infections;HP:0000083|Renal insufficiency
chylomicron retention disease	HP:0002910|Elevated hepatic transaminases;HP:0002570|Steatorrhea;HP:0003270|Abdominal distention;HP:0006565|Increased hepatocellular lipid droplets;HP:0002013|Vomiting;HP:0100508|Abnormality of vitamin metabolism;HP:0000505|Visual impairment;HP:0001927|Acanthocytosis;HP:0000488|Retinopathy;HP:0002014|Diarrhea;HP:0001284|Areflexia;HP:0010831|Impaired proprioception;HP:0002630|Fat malabsorption;HP:0001508|Failure to thrive;HP:0001397|Hepatic steatosis;HP:0003458|EMG: myopathic abnormalities;HP:0003146|Hypocholesterolemia;HP:0003198|Myopathy;HP:0002155|Hypertriglyceridemia;HP:0001510|Growth delay
purine nucleoside phosphorylase deficiency	HP:0001973|Autoimmune thrombocytopenia;HP:0003537|Low blood uric acid levels;HP:0001888|Lymphocytopenia;HP:0001904|Autoimmune neutropenia;HP:0005409|Markedly reduced T cell function;HP:0001890|Autoimmune hemolytic anemia;HP:0004429|Recurrent viral infections;HP:0001251|Ataxia;HP:0002783|Chronic lung infections;HP:0001264|Spastic diplegia;HP:0001270|Motor retardation;HP:0001249|Mental retardation;HP:0000010|Frequent urinary tract infections;HP:0001252|Hypotonia;HP:0000388|Otitis media;HP:0005372|Reduced B cell function;HP:0002718|Recurrent pyogenic infections;HP:0002665|Lymphoma;HP:0000708|Behavioral problems;HP:0001508|Weight faltering;HP:0005318|Cerebral vasculitis;HP:0002788|Recurrent upper respiratory infection;HP:0001744|Splenomegaly;HP:0005390|Recurrent opportunistic infections;HP:0000246|Sinus inflammation;HP:0001337|Tremor;HP:0002090|Pneumonia;HP:0002273|Tetraparesis;HP:0002732|Lymph node hypoplasia
hepatic veno-occlusive disease	HP:0002910|Elevated hepatic transaminases;HP:0003645|Prolonged partial thromboplastin time;HP:0001928|Abnormality of coagulation;HP:0002878|Respiratory failure;HP:0004324|Increased body weight;HP:0002480|Hepatic encephalopathy;HP:0002027|Abdominal pain;HP:0002240|Hepatomegaly;HP:0003573|Increased total bilirubin;HP:0001541|Ascites;HP:0000952|Jaundice;HP:0000083|Renal insufficiency
timothy syndrome	HP:0001159|Webbed fingers or toes;HP:0001657|Prolonged QT interval
infantile neuroaxonal dystrophy	HP:0000639|Nystagmus;HP:0001250|Seizures;HP:0004326|Cachexia;HP:0000505|Visual impairment;HP:0000496|Abnormality of eye movement;HP:0002376|Developmental regression;HP:0001252|Muscular hypotonia;HP:0000648|Optic atrophy
cardiofaciocutaneous syndrome	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0000470|Short neck;HP:0006191|Deep palmar crease;HP:0001003|Multiple lentigines;HP:0003196|Short nose;HP:0001048|Cavernous hemangioma;HP:0001654|Abnormality of the heart valves;HP:0000545|Myopia;HP:0002213|Fine hair;HP:0004322|Short stature;HP:0002299|Brittle hair;HP:0000218|High palate;HP:0005280|Depressed nasal bridge;HP:0000767|Pectus excavatum;HP:0000974|Hyperextensible skin;HP:0000508|Ptosis;HP:0001004|Lymphedema;HP:0001260|Dysarthria;HP:0001631|Atrial septal defect;HP:0009891|Underdeveloped supraorbital ridges;HP:0007392|Excessive wrinkled skin;HP:0010669|Cheekbone underdevelopment;HP:0002007|Frontal bossing;HP:0012719|Functional abnormality of the gastrointestinal tract;HP:0000126|Hydronephrosis;HP:0002564|Malformation of the heart and great vessels;HP:0000276|Long face;HP:0000486|Strabismus;HP:0000465|Webbed neck;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0001531|Failure to thrive in infancy;HP:0002167|Neurological speech impairment;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0001639|Hypertrophic cardiomyopathy;HP:0002120|Cerebral cortical atrophy;HP:0001642|Pulmonic stenosis;HP:0000982|Palmoplantar keratoderma;HP:0000494|Downslanted palpebral fissures;HP:0000478|Abnormality of the eye;HP:0002353|EEG abnormality;HP:0000962|Hyperkeratosis;HP:0000286|Epicanthus;HP:0008872|Feeding difficulties in infancy;HP:0000256|Macrocephaly;HP:0000293|Full cheeks;HP:0002650|Scoliosis;HP:0001622|Premature birth;HP:0008070|Sparse hair;HP:0000648|Optic atrophy;HP:0002857|Genu valgum;HP:0001249|Intellectual disability;HP:0008391|Dystrophic fingernails;HP:0002162|Low posterior hairline;HP:0011024|Abnormality of the gastrointestinal tract;HP:0000504|Abnormality of vision;HP:0000958|Dry skin;HP:0000348|High forehead;HP:0001582|Redundant skin;HP:0002967|Cubitus valgus;HP:0000463|Anteverted nares;HP:0002217|Slow-growing hair;HP:0004422|Biparietal narrowing;HP:0000400|Macrotia;HP:0000368|Low-set, posteriorly rotated ears;HP:0000280|Coarse facial features;HP:0000499|Abnormality of the eyelashes;HP:0000637|Long palpebral fissure;HP:0001252|Muscular hypotonia;HP:0007565|Multiple cafe-au-lait spots;HP:0002997|Abnormality of the ulna;HP:0000238|Hydrocephalus;HP:0007440|Generalized hyperpigmentation;HP:0000391|Thickened helices;HP:0008064|Ichthyosis;HP:0000176|Submucous cleft hard palate;HP:0200102|Sparse or absent eyelashes
juvenile xanthogranuloma	HP:0011830|Abnormality of oral mucosa;HP:0005547|Myeloproliferative disorder;HP:0000520|Proptosis;HP:0000554|Uveitis;HP:0000572|Visual loss;HP:0000498|Blepharitis;HP:0001101|Iritis;HP:0002086|Abnormality of the respiratory system;HP:0200064|Asymmetry of iris pigmentation;HP:0007565|Multiple cafe-au-lait spots;HP:0000501|Glaucoma;HP:0011886|Hyphema
lyme disease	HP:0100576|Amaurosis fugax;HP:0012378|Fatigue;HP:0002354|Memory impairment;HP:0001287|Meningitis;HP:0002383|Encephalitis;HP:0002829|Arthralgia;HP:0003401|Paresthesia;HP:0003326|Myalgia;HP:0009830|Peripheral neuropathy;HP:0002017|Nausea and vomiting;HP:0000708|Behavioral abnormality;HP:0000554|Uveitis;HP:0001386|Joint swelling;HP:0011675|Arrhythmia;HP:0001945|Fever;HP:0004334|Dermal atrophy;HP:0001369|Arthritis;HP:0001324|Muscle weakness;HP:0000613|Photophobia;HP:0001678|Atrioventricular block;HP:0006824|Cranial nerve paralysis;HP:0100785|Insomnia;HP:0200036|Skin nodule;HP:0002315|Headache
hypereosinophilic syndrome	HP:0005547|Myeloproliferative disorder;HP:0002240|Enlarged liver;HP:0001744|Splenomegaly;HP:0001880|Eosinophilia;HP:0006685|Endocardial fibrosis;HP:0002113|Pulmonary infiltrates;HP:0001723|Restrictive cardiomyopathy;HP:0000707|Neurological abnormality;HP:0000989|pruritis;HP:0004936|Blood clot in vein;HP:0003326|Muscle pain
adamantinoma	HP:0003072|Hypercalcemia;HP:0002756|Pathologic fracture;HP:0002653|Bone pain
autoimmune hemolytic anemia	HP:0001635|Congestive heart failure;HP:0001744|Splenomegaly;HP:0002094|Dyspnea;HP:0012086|Abnormal urinary color;HP:0002721|Immunodeficiency;HP:0001939|Laboratory abnormality;HP:0002665|Lymphoma;HP:0001324|Muscle weakness;HP:0012378|Fatigue;HP:0011675|Arrhythmia;HP:0001881|Abnormality of leukocytes;HP:0002027|Abdominal pain;HP:0001890|Autoimmune hemolytic anemia;HP:0002960|Autoimmunity;HP:0001945|Fever;HP:0000980|Pallor;HP:0002315|Headache;HP:0001878|Hemolytic anemia
cornelia de lange syndrome	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0010864|Intellectual disability, severe;HP:0004322|Short stature;HP:0000248|Brachycephaly;HP:0000527|Long eyelashes;HP:0000218|High palate;HP:0008736|Hypoplasia of penis;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0000347|Micrognathia;HP:0000130|Abnormality of the uterus;HP:0002564|Malformation of the heart and great vessels;HP:0000343|Long philtrum;HP:0001557|Prenatal movement abnormality;HP:0008872|Feeding difficulties in infancy;HP:0000175|Cleft palate;HP:0000252|Microcephaly;HP:0001508|Failure to thrive;HP:0002230|Generalized hirsutism;HP:0004209|Clinodactyly of the 5th finger;HP:0001883|Talipes;HP:0002566|Intestinal malrotation;HP:0001252|Muscular hypotonia;HP:0012165|Oligodactyly;HP:0000786|Primary amenorrhea;HP:0000501|Glaucoma;HP:0000545|Myopia;HP:0000722|Obsessive-compulsive behavior;HP:0000233|Thin vermilion border;HP:0000767|Pectus excavatum;HP:0000508|Ptosis;HP:0001631|Atrial septal defect;HP:0002557|Hypoplastic nipples;HP:0000047|Hypospadias;HP:0000965|Cutis marmorata;HP:0009830|Peripheral neuropathy;HP:0000684|Delayed eruption of teeth;HP:0002120|Cerebral cortical atrophy;HP:0001276|Hypertonia;HP:0000003|Multicystic kidney dysplasia;HP:0000294|Low anterior hairline;HP:0003042|Elbow dislocation;HP:0002021|Pyloric stenosis;HP:0200055|Small hand;HP:0000405|Conductive hearing impairment;HP:0001249|Intellectual disability;HP:0008850|Severe postnatal growth retardation;HP:0002750|Delayed skeletal maturation;HP:0000667|Phthisis bulbi;HP:0001956|Truncal obesity;HP:0000368|Low-set, posteriorly rotated ears;HP:0002983|Micromelia;HP:0000776|Congenital diaphragmatic hernia;HP:0002553|Highly arched eyebrow;HP:0003196|Short nose;HP:0001629|Ventricular septal defect;HP:0002119|Ventriculomegaly;HP:0000453|Choanal atresia;HP:0005280|Depressed nasal bridge;HP:0007598|Bilateral single transverse palmar creases;HP:0002167|Neurological speech impairment;HP:0000407|Sensorineural hearing impairment;HP:0000059|Hypoplastic labia majora;HP:0000739|Anxiety;HP:0002714|Downturned corners of mouth;HP:0000076|Vesicoureteral reflux;HP:0001773|Short foot;HP:0000413|Atresia of the external auditory canal;HP:0002020|Gastroesophageal reflux;HP:0001250|Seizures;HP:0000498|Blepharitis;HP:0001622|Premature birth;HP:0010300|Abnormally low-pitched voice;HP:0000823|Delayed puberty;HP:0002360|Sleep disturbance;HP:0007665|Curly eyelashes;HP:0002974|Radioulnar synostosis;HP:0001385|Hip dysplasia;HP:0000463|Anteverted nares;HP:0002827|Hip dislocation;HP:0000687|Widely spaced teeth;HP:0000470|Short neck;HP:0000518|Cataract;HP:0001770|Toe syndactyly;HP:0000083|Renal insufficiency;HP:0000486|Strabismus;HP:0000574|Thick eyebrow;HP:0001511|Intrauterine growth retardation;HP:0002580|Volvulus;HP:0000664|Synophrys;HP:0009623|Proximal placement of thumb;HP:0007018|Attention deficit hyperactivity disorder;HP:0002162|Low posterior hairline;HP:0000717|Autism;HP:0010034|Short 1st metacarpal;HP:0010880|Increased nuchal translucency;HP:0001387|Joint stiffness;HP:0000400|Macrotia;HP:0002997|Abnormality of the ulna;HP:0000482|Microcornea
endocardial fibroelastosis	HP:0001635|Congestive heart failure;HP:0000028|Cryptorchidism;HP:0001999|Facial dysmorphism;HP:0000707|Neurological abnormality;HP:0001706|Endocardial fibroelastosis;HP:0001638|Cardiomyopathy
dyschromatosis symmetrica hereditaria	HP:0007441|Hyperpigmented/hypopigmented macules;HP:0012733|Macule;HP:0001304|Torsion dystonia;HP:0007988|Macular hypopigmentation;HP:0011509|Macular hyperpigmentation
1p36 deletion syndrome	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0012733|Macule;HP:0000307|Pointed chin;HP:0004322|Short stature;HP:0001654|Abnormality of the heart valves;HP:0000878|11 pairs of ribs;HP:0000490|Sunken eyes;HP:0001344|Absent speech;HP:0000248|Brachycephaly;HP:0000316|Increased distance between eye sockets;HP:0001009|Telangiectasia;HP:0012817|Noncompaction of the ventricular myocardium;HP:0001629|Ventricular septal defects;HP:0008736|Hypoplasia of penis;HP:0002101|Lung segmentation defects;HP:0004209|Clinodactyly of fifth digit;HP:0002564|Malformation of the heart and great vessels;HP:0000107|Renal cyst;HP:0000343|Long philtrum;HP:0000733|Stereotypy;HP:0001636|Tetralogy of Fallot;HP:0008066|Abnormal blistering of the skin;HP:0001249|Mental retardation;HP:0008872|Feeding difficulties in infancy;HP:0001252|Hypotonia;HP:0002353|EEG abnormality;HP:0000077|Renal anomaly;HP:0001288|Gait disturbance;HP:0001647|Bicuspid aortic valve;HP:0000252|Microcephaly;HP:0001392|Abnormality of the liver;HP:0001508|Failure to thrive;HP:0002230|Generalized hirsutism;HP:0000902|Rib fusion;HP:0000431|Wide nasal bridge;HP:0004209|Clinodactyly of the 5th finger;HP:0002616|Aortic root dilatation;HP:0003006|Neuroblastoma;HP:0001734|Annular pancreas;HP:0002242|Abnormality of the intestine;HP:0000407|sensorineural hearing loss;HP:0001252|Muscular hypotonia;HP:0000821|Hypothyroidism;HP:0001655|Patent foramen ovale;HP:0000270|Delayed cranial suture closure;HP:0100716|Self-injurious behavior;HP:0002015|Dysphagia;HP:0004378|Abnormality of the anus;HP:0003198|Myopathy;HP:0000343|Vertical hyperplasia of philtrum;HP:0000648|Optic-nerve degeneration;HP:0009553|Abnormality of the hairline;HP:0000047|Hypospadias;HP:0002591|Polyphagia;HP:0002007|Frontal bossing;HP:0000126|Hydronephrosis;HP:0002120|Cerebral cortical atrophy;HP:0002007|Frontal protruberance;HP:0000540|Hypermetropia;HP:0009237|Short little finger;HP:0000750|Late-onset speech development;HP:0000708|Behavioral abnormality;HP:0000286|Epicanthus;HP:0000588|Optic disk coloboma;HP:0001476|Late closure of the bregma sutures;HP:0001263|Developmental retardation;HP:0001107|Ocular albinism;HP:0005113|Dilatation of the aortic arch;HP:0005280|Flat, nasal bridge;HP:0002750|Delayed bone maturation;HP:0000582|Upward slanting of palpebral fissures;HP:0000648|Optic atrophy;HP:0001397|Hepatic steatosis;HP:0002021|Pyloric stenosis;HP:0001644|Congestive cardiomyopathy;HP:0000405|Conductive hearing impairment;HP:0001249|Intellectual disability;HP:0001773|Small feet;HP:0000238|Nonsyndromal hydrocephalus;HP:0001510|Growth deficiency;HP:0000193|Uvula bifida;HP:0002591|Voracious appetite;HP:0000368|Low-set, posteriorly rotated ears;HP:0008551|Microtia;HP:0000055|Abnormality of female external genitalia;HP:0000391|Thickened helices;HP:0008551|Hypoplasia of the external ear;HP:0000664|Unibrow;HP:0001671|Abnormality of the cardiac septa;HP:0000718|Aggressive behaviour;HP:0001263|Global developmental delay;HP:0012469|Infantile spasms;HP:0000160|Narrow mouth;HP:0011800|Midface retrusion;HP:0002079|Hypoplasia of the corpus callosum;HP:0000581|Blepharophimosis;HP:0002119|Ventriculomegaly;HP:0000851|Congenital hypothyroidism;HP:0011800|Midface, flat;HP:0002020|Heartburn;HP:0001840|Forefoot varus;HP:0001644|Dilated cardiomyopathy;HP:0001274|Absent corpus callosum;HP:0005280|Depressed nasal bridge;HP:0002019|Dyschezia;HP:0000750|Delayed speech and language development;HP:0001156|Brachydactyly syndrome;HP:0000735|Impaired social interaction;HP:0000369|Low-set ears;HP:0008499|High-grade hypermetropia;HP:0002167|Neurological speech impairment;HP:0001302|Cerebral pachygyria;HP:0000204|Cleft upper lip;HP:0001643|Patent ductus arteriosus;HP:0002188|Delayed CNS myelination;HP:0000407|Sensorineural hearing impairment;HP:0001773|Short foot;HP:0002020|Gastroesophageal reflux;HP:0001250|Seizures;HP:0000307|Small pointed chin;HP:0000543|Pale optic disc;HP:0000457|Depressed nasal ridge;HP:0001643|Persistent ductus arteriosus;HP:0002650|Scoliosis;HP:0000260|Wide anterior fontanel;HP:0000218|Increased palatal height;HP:0002808|Kyphosis;HP:0002015|Swallowing difficulty;HP:0000892|Bifid ribs;HP:0003416|Spinal canal stenosis;HP:0001761|Pes cavus;HP:0002352|Leukoencephalopathy;HP:0001385|Congenital hip dysplasia;HP:0001385|Hip dysplasia;HP:0000504|Abnormality of vision;HP:0000505|Visual impairment;HP:0000742|Self-mutilation;HP:0011228|Horizontal eyebrow;HP:0002126|Polymicrogyria;HP:0011220|Prominent forehead;HP:0000457|Flat dorsum of nose;HP:0002521|Hypsarrhythmia by EEG;HP:0001156|Brachydactyly;HP:0000176|Submucous cleft hard palate;HP:0000534|Abnormality of the eyebrow;HP:0001274|Agenesis of corpus callosum;HP:0000486|Squint eyes;HP:0000518|Cataract;HP:0002715|Abnormality of the immune system;HP:0002019|Constipation;HP:0000464|Abnormality of the neck;HP:0010316|Ebstein's anomaly of the tricuspid valve;HP:0000135|Hypogonadism;HP:0000286|Palpebronasal fold;HP:0000490|Deeply set eye;HP:0000486|Strabismus;HP:0006956|Lateral ventricle dilatation;HP:0006897|Cranial nerve VI palsy;HP:0001829|Foot polydactyly;HP:0004374|Hemiplegia/hemiparesis;HP:0000358|Ear, posterior angulation, increased;HP:0011228|Straight eyebrow;HP:0000252|Small head circumference;HP:0000505|Poor vision;HP:0010722|Asymmetry of the ears;HP:0000545|Near sightedness;HP:0010865|Oppositional defiant disorder;HP:0000077|Abnormality of the kidney;HP:0002465|Poor speech;HP:0000717|Autism;HP:0000272|Depressed malar region;HP:0001513|Obesity;HP:0000405|Conductive hearing loss;HP:0001387|Joint stiffness;HP:0100490|Camptodactyly of finger;HP:0006824|Cranial nerve paralysis;HP:0000494|Downward slanting palpebral fissures;HP:0100559|Lower limb asymmetry;HP:0001743|Abnormality of the spleen
desmoid tumor	HP:0002829|Arthralgia;HP:0002239|Gastrointestinal hemorrhage;HP:0003326|Myalgia;HP:0003011|Abnormality of the musculature;HP:0100806|Sepsis;HP:0000126|Hydronephrosis;HP:0200008|Intestinal polyposis;HP:0100749|Chest pain;HP:0002027|Abdominal pain;HP:0001482|Subcutaneous nodule;HP:0008069|Neoplasm of the skin;HP:0004298|Abnormality of the abdominal wall;HP:0010614|Fibroma;HP:0010935|Abnormality of the upper urinary tract;HP:0001376|Limitation of joint mobility;HP:0007703|Abnormality of retinal pigmentation;HP:0002797|Osteolysis;HP:0002024|Malabsorption;HP:0100245|Desmoid tumors;HP:0005214|Intestinal obstruction
mandibuloacral dysplasia	HP:0000894|Short clavicles;HP:0000831|Insulin-resistant diabetes mellitus;HP:0030809|Abnormal tongue morphology;HP:0005781|Contractures of the large joints;HP:0000685|Hypoplasia of teeth;HP:0001000|Abnormality of skin pigmentation;HP:0003124|Hypercholesterolemia;HP:0000218|High palate;HP:0000678|Dental crowding;HP:0000460|Narrow nose;HP:0008897|Postnatal growth retardation;HP:0008993|Increased intraabdominal fat;HP:0009839|Osteolytic defects of the distal phalanges of the hand;HP:0011334|Facial shape deformation;HP:0000963|Thin skin;HP:0000347|Micrognathia;HP:0003635|Loss of subcutaneous adipose tissue in limbs;HP:0000855|Insulin resistance;HP:0030781|Increased circulating free fatty acid level;HP:0100578|Lipoatrophy;HP:0002155|Hypertriglyceridemia;HP:0000833|Glucose intolerance;HP:0000842|Hyperinsulinemia;HP:0000293|Full cheeks;HP:0000468|Increased adipose tissue around the neck;HP:0008070|Sparse hair;HP:0001596|Alopecia;HP:0001090|Large eyes;HP:0003809|Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic);HP:0009003|Increased subcutaneous truncal adipose tissue;HP:0001870|Acroosteolysis of distal phalanges (feet);HP:0001804|Hypoplastic fingernail;HP:0000956|Acanthosis nigricans;HP:0000270|Delayed cranial suture closure
congenital fiber type disproportion	HP:0001612|Weak cry;HP:0000275|Decreased width of face;HP:0000602|Ophthalmoplegia;HP:0001374|Congenital hip dislocation;HP:0002938|Exaggerated lumbar lordosis;HP:0000276|Long face;HP:0001283|Bulbar palsies;HP:0003324|Muscle weakness, diffuse;HP:0011968|Feeding difficulties;HP:0002747|Respiratory distress due to muscle weakness;HP:0003701|Proximal limb muscle weakness;HP:0000218|Increased palatal height;HP:0002650|Scoliosis;HP:0003755|Type 1 fibers relatively smaller than type 2 fibers;HP:0001508|Weight faltering;HP:0002015|Swallowing difficulty;HP:0001644|Congestive cardiomyopathy;HP:0001558|Decreased fetal movement;HP:0003121|Limb joint contracture;HP:0002093|progressive respiratory failure;HP:0000508|Drooping upper eyelid;HP:0001319|Hypotonia, in neonatal onset;HP:0010628|Facial palsy, unilateral or bilateral;HP:0003687|Central nuclei
nelson syndrome	HP:0001065|Striae distensae;HP:0030591|Abnormal kinetic perimetry test;HP:0010788|Testicular neoplasm;HP:0000873|Diabetes insipidus;HP:0011744|Secondary hypercorticolism;HP:0200026|Ocular pain;HP:0012030|Increased urinary cortisol level;HP:0007340|Lower limb muscle weakness;HP:0000822|Hypertension;HP:0002516|Increased intracranial pressure;HP:0012246|Oculomotor nerve palsy;HP:0008291|Pituitary corticotropic cell adenoma;HP:0005978|Type II diabetes mellitus;HP:0002900|Hypokalemia;HP:0011763|Pituitary carcinoma;HP:0011749|Adrenocorticotropic hormone excess;HP:0000830|Anterior hypopituitarism;HP:0430022|Abnormality of the sphenoid sinus;HP:0003118|Increased circulating cortisol level;HP:0009050|Quadriceps muscle atrophy;HP:0000870|Prolactin excess;HP:0007807|Optic nerve compression;HP:0000505|Visual impairment;HP:0007924|Slow decrease in visual acuity;HP:0002170|Intracranial hemorrhage;HP:0007440|Generalized hyperpigmentation;HP:0030521|Bitemporal hemianopia
distal myopathy	HP:0003198|Myopathy
3m syndrome	HP:0011800|Midface retrusion;HP:0000470|Short neck;HP:0003691|Scapular winging;HP:0000682|Abnormality of dental enamel;HP:0000307|Pointed chin;HP:0004322|Short stature;HP:0001838|Rocker bottom foot;HP:0000232|Everted lower lip vermilion;HP:0004570|Increased vertebral height;HP:0100659|Abnormality of the cerebral vasculature;HP:0000337|Broad forehead;HP:0010306|Short thorax;HP:0008839|Hypoplastic pelvis;HP:0000047|Hypospadias;HP:0001374|Congenital hip dislocation;HP:0002007|Frontal bossing;HP:0003307|Hyperlordosis;HP:0005692|Joint hyperflexibility;HP:0000343|Long philtrum;HP:0000883|Thin ribs;HP:0000684|Delayed eruption of teeth;HP:0000574|Thick eyebrow;HP:0001511|Intrauterine growth retardation;HP:0003175|Hypoplastic ischia;HP:0003022|Hypoplasia of the ulna;HP:0002650|Scoliosis;HP:0002808|Kyphosis;HP:0000888|Horizontal ribs;HP:0000268|Dolichocephaly;HP:0004209|Clinodactyly of the 5th finger;HP:0100625|Enlarged thorax;HP:0009811|Abnormality of the elbow;HP:0003100|Slender long bone;HP:0000411|Protruding ear;HP:0002750|Delayed skeletal maturation;HP:0000463|Anteverted nares;HP:0000325|Triangular face;HP:0000414|Bulbous nose;HP:0000144|Decreased fertility;HP:0000944|Abnormality of the metaphyses;HP:0002983|Micromelia;HP:0003173|Hypoplastic pubic bone
meesmann corneal dystrophy	HP:0007856|Punctate corneal opacities;HP:0001131|Corneal dystrophy
spondylometaphyseal dysplasia	HP:0001385|Hip dysplasia;HP:0001288|Gait disturbance;HP:0004322|Short stature;HP:0000926|Platyspondyly;HP:0000944|Abnormality of the metaphyses;HP:0008905|Rhizomelia
best vitelliform macular dystrophy	HP:0012508|Metamorphopsia;HP:0000505|Visual impairment;HP:0001123|Visual field defect;HP:0000551|Abnormality of color vision;HP:0001139|Choroideremia;HP:0008028|Cystoid macular degeneration
multiple sulfatase deficiency	HP:0001263|Global developmental delay;HP:0000518|Cataract;HP:0004322|Short stature;HP:0002376|Developmental regression;HP:0005280|Depressed nasal bridge;HP:0007307|Rapid neurologic deterioration;HP:0000574|Thick eyebrow;HP:0000407|Sensorineural hearing impairment;HP:0002208|Coarse hair;HP:0003134|Abnormality of peripheral nerve conduction;HP:0001250|Seizures;HP:0007957|Corneal opacity;HP:0000256|Macrocephaly;HP:0000252|Microcephaly;HP:0000319|Smooth philtrum;HP:0000648|Optic atrophy;HP:0002240|Hepatomegaly;HP:0007703|Abnormality of retinal pigmentation;HP:0010059|Broad hallux phalanx;HP:0001249|Intellectual disability;HP:0001319|Neonatal hypotonia;HP:0001744|Splenomegaly;HP:0000505|Visual impairment;HP:0001387|Joint stiffness;HP:0000463|Anteverted nares;HP:0008155|Mucopolysacchariduria;HP:0011304|Broad thumb;HP:0000280|Coarse facial features;HP:0000238|Hydrocephalus;HP:0008064|Ichthyosis
white sponge nevus	HP:0001939|Laboratory abnormality;HP:0002745|Oral idiopathic leukoplakia
hereditary multiple exostoses	HP:0003068|Madelung-like forearm deformities;HP:0003276|Pelvic bone exostoses;HP:0010049|Metacarpal hypoplasia;HP:0002318|Cervical myelopathy;HP:0004322|Stature below 3rd percentile;HP:0002812|Coxa vara;HP:0000896|Rib exostoses;HP:0001760|Foot deformities;HP:0003406|Peripheral nerve compression;HP:0006765|Chondrosarcoma;HP:0000918|Scapular exostoses;HP:0003105|Protuberances at ends of long bones;HP:0002857|Genu valgum
tyrosinemia type 1	HP:0001744|Splenomegaly;HP:0001402|Hepatocellular carcinoma;HP:0006463|Rickets of the lower limbs;HP:0002909|Generalized aminoaciduria;HP:0002240|Hepatomegaly;HP:0006554|Acute hepatic failure
lysosomal acid lipase deficiency	HP:0001263|Global developmental delay;HP:0001297|Stroke;HP:0001414|Microvesicular hepatic steatosis;HP:0002013|Vomiting;HP:0004416|Precocious atherosclerosis;HP:0100543|Cognitive impairment;HP:0001395|Hepatic fibrosis;HP:0002027|Abdominal pain;HP:0001824|Weight loss;HP:0003124|Hypercholesterolemia;HP:0012605|Hypernatriuria;HP:0012598|Abnormal urine potassium concentration;HP:0001433|Hepatosplenomegaly;HP:0002014|Diarrhea;HP:0002092|Pulmonary artery hypertension;HP:0002902|Hyponatremia;HP:0001941|Acidosis;HP:0002361|Psychomotor deterioration;HP:0002615|Hypotension;HP:0002017|Nausea and vomiting;HP:0003155|Elevated alkaline phosphatase;HP:0001944|Dehydration;HP:0000952|Jaundice;HP:0001971|Hypersplenism;HP:0001433|Enlarged liver and spleen;HP:0001541|Ascites;HP:0001538|Protuberant abdomen;HP:0001903|Anemia;HP:0002155|Hypertriglyceridemia;HP:0004929|Coronary atherosclerosis;HP:0011968|Feeding difficulties;HP:0010512|Adrenal calcification;HP:0006583|Fatal liver failure in infancy;HP:0001399|Hepatic failure;HP:0011106|Hypovolemia;HP:0001114|Xanthelasma;HP:0001410|Decreased liver function;HP:0001508|Weight faltering;HP:0002092|Pulmonary arterial hypertension;HP:0004333|Bone marrow foam cells;HP:0000991|Xanthomatosis;HP:0001508|Failure to thrive;HP:0002153|Hyperkalemia;HP:0002040|Esophageal varix;HP:0002910|Elevated hepatic transaminases;HP:0002570|Steatorrhea;HP:0003270|Abdominal distention;HP:0004326|Cachexia;HP:0001922|Vacuolated blood lymphocytes;HP:0000127|Renal salt wasting;HP:0004395|Malnutrition;HP:0004333|Bone-marrow foam cells;HP:0008207|Primary adrenal insufficiency;HP:0000989|Pruritus;HP:0003124|Elevated serum cholesterol;HP:0001922|Vacuolated lymphocytes;HP:0002013|Emesis
mast cell sarcoma	HP:0002716|Lymphadenopathy;HP:0001744|Splenomegaly;HP:0012378|Fatigue;HP:0100720|Hypoplasia of the ear cartilage;HP:0100721|Mediastinal lymphadenopathy;HP:0100242|Sarcoma;HP:0001824|Weight loss;HP:0002240|Hepatomegaly;HP:0100495|Mastocytosis
pallister hall syndrome	HP:0000028|Cryptorchidism;HP:0001830|Posterior polydactyly of foot;HP:0002023|Anal atresia;HP:0003196|Short nose;HP:0000826|Precocious puberty;HP:0000463|Nostrils anteverted;HP:0000089|Small kidneys;HP:0001770|Toe syndactyly;HP:0002164|Nail dysplasia;HP:0008734|Decreased testicular size;HP:0000824|Growth hormone deficiency;HP:0001629|Ventricular septal defects;HP:0008163|Decreased circulating cortisol level;HP:0002444|Hypothalamic hamartoma;HP:0004322|Stature below 3rd percentile;HP:0002101|Lung segmentation defects;HP:0000126|Hydronephrosis;HP:0005151|Proximal aortic coarctation;HP:0000107|Renal cyst;HP:0000204|Cleft upper lip;HP:0005349|Hypoplasia of the epiglottis;HP:0000871|Panhypopituitarism;HP:0006159|Interdigital finger polydactyly;HP:0000695|Natal teeth;HP:0000358|Ear, posterior angulation, increased;HP:0001162|Postaxial polydactyly of fingers;HP:0001250|Seizures;HP:0000054|Short penis;HP:0006402|Distal shortening of limbs;HP:0000171|Hypoglossia;HP:0001263|Developmental retardation;HP:0003048|Radial subluxation;HP:0001643|Persistent ductus arteriosus;HP:0005280|Flat, nasal bridge;HP:0000835|Hypoplastic adrenal glands;HP:0010564|Bifid epiglottis;HP:0008751|Laryngotracheal cleft;HP:0003027|Mesomelia;HP:0008188|Thyroid dysplasia;HP:0000902|Rib fusion;HP:0010044|Shortened 4th long bone of hand;HP:0001511|Prenatal onset growth retardation;HP:0006042|Y-shaped metacarpals;HP:0000110|Renal dysplasia;HP:0000413|External auditory meatal atresia;HP:0002937|Hemivertebra;HP:0000072|Megaureter;HP:0010112|Mesoaxial foot polydactyly;HP:0002827|Hip dislocation;HP:0000568|Abnormally small globe of eye;HP:0012165|Oligodactyly;HP:0008706|Distal urethral duplication;HP:0008551|Hypoplasia of the external ear;HP:0001360|Single brain ventricle;HP:0007601|Midline facial capillary hemangioma
smith magenis syndrome	HP:0001252|Hypotonia;HP:0000733|Repetitive movements;HP:0001249|Mental retardation;HP:0004322|Stature below 3rd percentile;HP:0000742|Self-mutilation;HP:0001609|Hoarseness;HP:0002360|Sleep disturbance;HP:0001156|Brachydactyly;HP:0000752|Hyperactive behavior
wolf hirschhorn syndrome	HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0001249|Mental retardation;HP:0000252|Small head circumference;HP:0001518|Small for gestational age
neuralgic amyotrophy	HP:0002829|Arthralgia;HP:0000160|Narrow mouth;HP:0003401|Paresthesia;HP:0000175|Cleft palate;HP:0003691|Scapular winging;HP:0002093|Respiratory insufficiency;HP:0001271|Polyneuropathy;HP:0001324|Muscle weakness;HP:0004322|Short stature;HP:0003457|EMG abnormality;HP:0002167|Neurological speech impairment;HP:0009830|Peripheral neuropathy;HP:0001063|Acrocyanosis;HP:0000912|Sprengel anomaly;HP:0000311|Round face;HP:0002360|Sleep disturbance
scheuermann disease	HP:0002808|Gibbus deformity;HP:0010891|Scheuermann disease
factor v deficiency	HP:0003225|Reduced factor V activity;HP:0003010|Increased bleeding time;HP:0003645|Delayed thromboplastin generation;HP:0008151|Prolonged prothrombin time;HP:0005542|Prolonged whole-blood clotting time;HP:0000132|Hypermenorrhea;HP:0000978|Bruisability;HP:0000421|Bloody nose
familial melanoma	HP:0006753|Neoplasm of the stomach;HP:0002071|Abnormality of extrapyramidal motor function;HP:0000958|Dry skin;HP:0002894|Neoplasm of the pancreas;HP:0001480|Freckling;HP:0000488|Retinopathy;HP:0100013|Neoplasm of the breast;HP:0100763|Abnormality of the lymphatic system;HP:0003764|Nevus;HP:0001595|Abnormality of the hair;HP:0002861|Melanoma
mosaic variegated aneuploidy syndrome	HP:0001263|Global developmental delay;HP:0010978|Abnormality of immune system physiology;HP:0000568|Microphthalmia;HP:0000518|Cataract;HP:0200008|Intestinal polyposis;HP:0004322|Short stature;HP:0002119|Ventriculomegaly;HP:0000365|Hearing impairment;HP:0000929|Abnormality of the skull;HP:0001000|Abnormality of skin pigmentation;HP:0001360|Holoprosencephaly;HP:0001659|Aortic regurgitation;HP:0000445|Wide nose;HP:0001631|Atrial septal defect;HP:0002247|Duodenal atresia;HP:0002797|Osteolysis;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0000347|Micrognathia;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0002007|Frontal bossing;HP:0002101|Abnormal lung lobation;HP:0001680|Coarctation of aorta;HP:0002564|Malformation of the heart and great vessels;HP:0001561|Polyhydramnios;HP:0006721|Acute lymphatic leukemia;HP:0001511|Intrauterine growth retardation;HP:0000062|Ambiguous genitalia;HP:0001541|Ascites;HP:0003003|Colon cancer;HP:0001510|Growth delay;HP:0000494|Downslanted palpebral fissures;HP:0000924|Abnormality of the skeletal system;HP:0000478|Abnormality of the eye;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0000003|Multicystic kidney dysplasia;HP:0002664|Neoplasm;HP:0000457|Depressed nasal ridge;HP:0007957|Corneal opacity;HP:0002667|Nephroblastoma;HP:0100650|Vaginal neoplasm;HP:0002859|Rhabdomyosarcoma;HP:0000252|Microcephaly;HP:0001682|Subaortic stenosis;HP:0012126|Stomach cancer;HP:0004209|Clinodactyly of the 5th finger;HP:0001679|Abnormality of the aorta;HP:0003560|Muscular dystrophy;HP:0001305|Dandy-Walker malformation;HP:0001249|Intellectual disability;HP:0000504|Abnormality of vision;HP:0000348|High forehead;HP:0010880|Increased nuchal translucency;HP:0002863|Myelodysplasia;HP:0000325|Triangular face;HP:0000368|Low-set, posteriorly rotated ears;HP:0001252|Muscular hypotonia;HP:0002817|Abnormality of the upper limb;HP:0000501|Glaucoma;HP:0007565|Multiple cafe-au-lait spots;HP:0002104|Apnea;HP:0000821|Hypothyroidism;HP:0000340|Sloping forehead
cranioectodermal dysplasia	HP:0000639|Nystagmus;HP:0000682|Abnormality of dental enamel;HP:0000545|Myopia;HP:0000601|Hypotelorism;HP:0000232|Everted lower lip vermilion;HP:0000767|Pectus excavatum;HP:0001156|Brachydactyly syndrome;HP:0006101|Finger syndactyly;HP:0002007|Frontal bossing;HP:0008499|High-grade hypermetropia;HP:0009882|Short distal phalanx of finger;HP:0005692|Joint hyperflexibility;HP:0000668|Hypodontia;HP:0000164|Abnormality of the teeth;HP:0000774|Narrow chest;HP:0008388|Abnormality of the toenails;HP:0000286|Epicanthus;HP:0000939|Osteoporosis;HP:0008070|Sparse hair;HP:0004209|Clinodactyly of the 5th finger;HP:0000268|Dolichocephaly;HP:0000679|Taurodontia;HP:0000691|Microdontia;HP:0001363|Craniosynostosis;HP:0000269|Prominent occiput;HP:0000463|Anteverted nares;HP:0001231|Abnormality of the fingernails;HP:0000944|Abnormality of the metaphyses;HP:0008905|Rhizomelia;HP:0000940|Abnormal diaphysis morphology
trisomy 18	HP:0000028|Cryptorchidism;HP:0000160|Narrow mouth;HP:0001263|Global developmental delay;HP:0009914|Cyclopia;HP:0000568|Microphthalmia;HP:0002023|Anal atresia;HP:0000518|Cataract;HP:0000581|Blepharophimosis;HP:0003196|Short nose;HP:0001629|Ventricular septal defect;HP:0004322|Short stature;HP:0100543|Cognitive impairment;HP:0000453|Choanal atresia;HP:0001562|Oligohydramnios;HP:0000776|Congenital diaphragmatic hernia;HP:0001360|Holoprosencephaly;HP:0002032|Esophageal atresia;HP:0007477|Abnormal dermatoglyphics;HP:0010935|Abnormality of the upper urinary tract;HP:0000337|Broad forehead;HP:0001631|Atrial septal defect;HP:0007598|Bilateral single transverse palmar creases;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0000126|Hydronephrosis;HP:0002564|Malformation of the heart and great vessels;HP:0000465|Webbed neck;HP:0000316|Hypertelorism;HP:0001162|Postaxial hand polydactyly;HP:0001511|Intrauterine growth retardation;HP:0000772|Abnormality of the ribs;HP:0002308|Arnold-Chiari malformation;HP:0000008|Abnormality of female internal genitalia;HP:0004097|Deviation of finger;HP:0001276|Hypertonia;HP:0002414|Spina bifida;HP:0000612|Iris coloboma;HP:0001510|Growth delay;HP:0008388|Abnormality of the toenails;HP:0100335|Non-midline cleft lip;HP:0100810|Pointed helix;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0000275|Narrow face;HP:0000252|Microcephaly;HP:0002814|Abnormality of the lower limb;HP:0001539|Omphalocele;HP:0003272|Abnormality of the hip bone;HP:0000268|Dolichocephaly;HP:0007703|Abnormality of retinal pigmentation;HP:0004326|Cachexia;HP:0000269|Prominent occiput;HP:0000348|High forehead;HP:0002750|Delayed skeletal maturation;HP:0000308|Microretrognathia;HP:0003275|Narrow pelvis bone;HP:0000235|Abnormality of the fontanelles or cranial sutures;HP:0000325|Triangular face;HP:0000368|Low-set, posteriorly rotated ears;HP:0009891|Underdeveloped supraorbital ridges;HP:0100490|Camptodactyly of finger;HP:0001252|Muscular hypotonia;HP:0002817|Abnormality of the upper limb;HP:0000501|Glaucoma;HP:0100790|Hernia;HP:0000189|Narrow palate;HP:0002323|Anencephaly;HP:0000482|Microcornea
cutaneous mastocytosis	HP:0002239|Gastrointestinal hemorrhage;HP:0012733|Macule;HP:0002094|Dyspnea;HP:0012378|Fatigue;HP:0200151|Cutaneous mastocytosis;HP:0002027|Abdominal pain;HP:0100585|Telangiectasia of the skin;HP:0001000|Abnormality of skin pigmentation;HP:0002099|Asthma;HP:0002014|Diarrhea;HP:0100326|Immunologic hypersensitivity;HP:0002615|Hypotension;HP:0002017|Nausea and vomiting;HP:0000739|Anxiety;HP:0008066|Abnormal blistering of the skin;HP:0005547|Myeloproliferative disorder;HP:0011001|Increased bone mineral density;HP:0011675|Arrhythmia;HP:0002757|Recurrent fractures;HP:0001019|Erythroderma;HP:0000939|Osteoporosis;HP:0100242|Sarcoma;HP:0002240|Hepatomegaly;HP:0012735|Cough;HP:0003072|Hypercalcemia;HP:0001744|Splenomegaly;HP:0001596|Alopecia;HP:0001695|Cardiac arrest;HP:0000716|Depression;HP:0000989|Pruritus;HP:0007565|Multiple cafe-au-lait spots;HP:0200034|Papule;HP:0002315|Headache
mccune-albright syndrome	HP:0000670|Carious teeth;HP:0000843|Hyperparathyroidism;HP:0000682|Abnormality of dental enamel;HP:0000826|Precocious puberty;HP:0002653|Bone pain;HP:0010788|Testicular neoplasm;HP:0000098|Tall stature;HP:0002652|Skeletal dysplasia;HP:0000303|Mandibular prognathia;HP:0100013|Neoplasm of the breast;HP:0003010|Prolonged bleeding time;HP:0000164|Abnormality of the teeth;HP:0000040|Long penis;HP:0000147|Polycystic ovaries;HP:0000271|Abnormality of the face;HP:0000478|Abnormality of the eye;HP:0100031|Neoplasm of the thyroid gland;HP:0000256|Macrocephaly;HP:0002757|Recurrent fractures;HP:0100242|Sarcoma;HP:0002808|Kyphosis;HP:0000648|Optic atrophy;HP:0001578|Hypercortisolism;HP:0000053|Macroorchidism;HP:0000853|Goiter;HP:0002910|Elevated hepatic transaminases;HP:0000504|Abnormality of vision;HP:0010807|Open bite;HP:0000364|Hearing abnormality;HP:0000174|Abnormality of the palate;HP:0004349|Reduced bone mineral density;HP:0007565|Multiple cafe-au-lait spots;HP:0007440|Generalized hyperpigmentation;HP:0002148|Hypophosphatemia;HP:0000836|Hyperthyroidism
bannayan-riley-ruvalcaba syndrome	HP:0100026|Arteriovenous malformation;HP:0004390|Hamartomatous polyposis;HP:0200008|Intestinal polyposis;HP:0003196|Short nose;HP:0004322|Short stature;HP:0012032|Lipoma;HP:0001482|Subcutaneous nodule;HP:0001009|Telangiectasia;HP:0000587|Abnormality of the optic nerve;HP:0002858|Meningioma;HP:0003198|Myopathy;HP:0010784|Uterine neoplasm;HP:0000767|Pectus excavatum;HP:0001004|Lymphedema;HP:0000445|Wide nose;HP:0001724|Aortic dilatation;HP:0000098|Tall stature;HP:0000347|Micrognathia;HP:0000965|Cutis marmorata;HP:0009023|Abdominal wall muscle weakness;HP:0002007|Frontal bossing;HP:0100013|Neoplasm of the breast;HP:0002167|Neurological speech impairment;HP:0002250|Abnormality of the large intestine;HP:0000343|Long philtrum;HP:0005692|Joint hyperflexibility;HP:0000872|Hashimoto thyroiditis;HP:0001943|Hypoglycemia;HP:0100641|Neoplasm of the adrenal cortex;HP:0005306|Capillary hemangiomas;HP:0001681|Angina pectoris;HP:0001250|Seizures;HP:0002664|Neoplasm;HP:0000256|Macrocephaly;HP:0002665|Lymphoma;HP:0007400|Irregular hyperpigmentation;HP:0002650|Scoliosis;HP:0100761|Visceral angiomatosis;HP:0003764|Nevus;HP:0000268|Dolichocephaly;HP:0002194|Delayed gross motor development;HP:0001933|Subcutaneous hemorrhage;HP:0001249|Intellectual disability;HP:0002890|Thyroid carcinoma;HP:0004326|Cachexia;HP:0001324|Muscle weakness;HP:0002750|Delayed skeletal maturation;HP:0000463|Anteverted nares;HP:0011304|Broad thumb;HP:0000400|Macrotia;HP:0001252|Muscular hypotonia;HP:0007565|Multiple cafe-au-lait spots;HP:0000189|Narrow palate;HP:0002170|Intracranial hemorrhage;HP:0003202|Skeletal muscle atrophy
pyle disease	HP:0002684|Thickened calvarium;HP:0000303|Increased size of lower jaw;HP:0000670|Dental caries;HP:0002650|Scoliosis;HP:0000765|Abnormality of the thorax;HP:0001324|Muscular weakness;HP:0002857|Genu valgum;HP:0100255|Metaphyseal dysplasia;HP:0001377|Restricted elbow extension;HP:0000926|Flattened vertebral bodies;HP:0002829|Arthralgias
duane retraction syndrome	HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0001357|Plagiocephaly;HP:0000470|Short neck;HP:0000615|Abnormality of the pupil;HP:0000496|Abnormality of eye movement;HP:0000581|Blepharophimosis;HP:0000402|Stenosis of the external auditory canal;HP:0000646|Amblyopia;HP:0005640|Abnormal vertebral segmentation and fusion;HP:0007990|Hypoplastic iris stroma;HP:0000365|Hearing impairment;HP:0012745|Short palpebral fissure;HP:0000643|Blepharospasm;HP:0000232|Everted lower lip vermilion;HP:0000508|Ptosis;HP:0012732|Anorectal anomaly;HP:0001156|Brachydactyly syndrome;HP:0000086|Ectopic kidney;HP:0011365|Patchy hypopigmentation of hair;HP:0000490|Deeply set eye;HP:0000347|Micrognathia;HP:0003974|Absent radius;HP:0002564|Malformation of the heart and great vessels;HP:0001053|Hypopigmented skin patches;HP:0000486|Strabismus;HP:0001762|Talipes equinovarus;HP:0000465|Webbed neck;HP:0003298|Spina bifida occulta;HP:0007818|Central heterochromia;HP:0000407|Sensorineural hearing impairment;HP:0000384|Preauricular skin tag;HP:0011386|Narrow internal auditory canal;HP:0000612|Iris coloboma;HP:0012246|Oculomotor nerve palsy;HP:0001250|Seizures;HP:0000324|Facial asymmetry;HP:0000175|Cleft palate;HP:0001177|Preaxial hand polydactyly;HP:0002984|Hypoplasia of the radius;HP:0003312|Abnormal form of the vertebral bodies;HP:0007400|Irregular hyperpigmentation;HP:0000252|Microcephaly;HP:0000431|Wide nasal bridge;HP:0002162|Low posterior hairline;HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0012385|Camptodactyly;HP:0000567|Chorioretinal coloboma;HP:0001199|Triphalangeal thumb;HP:0000526|Aniridia;HP:0000463|Anteverted nares;HP:0007766|Optic disc hypoplasia;HP:0008572|External ear malformation;HP:0003202|Skeletal muscle atrophy;HP:0000482|Microcornea
indolent systemic mastocytosis	HP:0010829|Impaired temperature sensation;HP:0001025|Urticaria;HP:0000708|Behavioral abnormality;HP:0001645|Sudden cardiac death;HP:0002014|Diarrhea;HP:0002027|Abdominal pain;HP:0002017|Nausea and vomiting;HP:0000989|Pruritus;HP:0001000|Abnormality of skin pigmentation;HP:0004349|Reduced bone mineral density;HP:0100495|Mastocytosis;HP:0002315|Headache;HP:0004295|Abnormality of the gastric mucosa
usher syndrome type 1	HP:0001263|Global developmental delay;HP:0000518|Cataract;HP:0000682|Abnormality of dental enamel;HP:0000572|Visual loss;HP:0000512|Abnormal electroretinogram;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0001251|Ataxia;HP:0008499|High-grade hypermetropia;HP:0012157|Subcortical cerebral atrophy;HP:0007730|Iris hypopigmentation;HP:0002120|Cerebral cortical atrophy;HP:0000407|Sensorineural hearing impairment;HP:0000739|Anxiety;HP:0000375|Abnormality of cochlea;HP:0001249|Intellectual disability;HP:0012377|Hemianopsia;HP:0001756|Vestibular hypofunction;HP:0000575|Scotoma;HP:0100753|Schizophrenia;HP:0000738|Hallucinations;HP:0000716|Depression;HP:0000662|Nyctalopia
lennox-gastaut syndrome	HP:0000752|Hyperactivity;HP:0002353|EEG abnormality;HP:0001298|Encephalopathy;HP:0000708|Behavioral abnormality;HP:0007270|Atypical absence seizures;HP:0012075|Personality disorder;HP:0000729|Autistic behavior;HP:0001336|Myoclonus;HP:0007359|Focal seizures;HP:0001268|Mental deterioration;HP:0010819|Atonic seizures;HP:0002527|Falls;HP:0002363|Abnormality of brainstem morphology;HP:0010818|Generalized tonic seizures;HP:0011195|EEG with focal sharp slow waves;HP:0000718|Aggressive behavior;HP:0002123|Generalized myoclonic seizures;HP:0002069|Generalized tonic-clonic seizures;HP:0001249|Intellectual disability
malignant peritoneal mesothelioma	HP:0003270|Abdominal distention;HP:0002094|Dyspnea;HP:0002664|Neoplasm;HP:0010741|Edema of the lower limbs;HP:0001928|Abnormality of coagulation;HP:0002595|Ileus;HP:0002027|Abdominal pain;HP:0001824|Weight loss;HP:0001541|Ascites;HP:0002586|Peritonitis
allan-herndon-dudley syndrome	HP:0010864|Intellectual disability, severe;HP:0000767|Funnel chest;HP:0000520|Proptosis;HP:0002307|Sialorrhea;HP:0001258|Spastic paraplegia, lower limb;HP:0000020|Urinary incontinence;HP:0006887|Intellectual disability, progressive;HP:0000464|Abnormality of the neck;HP:0001344|Absent speech;HP:0000508|Ptosis;HP:0002305|Involuntary writhing movements;HP:0000821|Underactive thyroid;HP:0000582|Upslanted palpebral fissure;HP:0007598|Bilateral single transverse palmar creases;HP:0001251|Ataxia;HP:0010669|Cheekbone underdevelopment;HP:0008583|Underfolded superior helices;HP:0010864|Early and severe mental retardation;HP:0002925|Increased serum thyroid-stimulating hormone;HP:0011344|Severe global developmental delay;HP:0002188|Delayed CNS myelination;HP:0000194|Open mouth;HP:0006887|Progressive mental retardation;HP:0009004|Hypoplasia of the musculature;HP:0008872|Feeding difficulties in infancy;HP:0100651|Type I diabetes mellitus;HP:0002415|Degeneration of white matter of brain;HP:0000252|Small head circumference;HP:0001288|Gait disturbance;HP:0001822|Hallux valgus;HP:0002607|Bowel incontinence;HP:0000400|Large ears;HP:0002650|Scoliosis;HP:0002169|Clonus;HP:0000275|Narrow face;HP:0100022|Abnormality of movement;HP:0000395|Prominent antihelix;HP:0002514|Cerebral calcification;HP:0003700|Diffuse muscle wasting;HP:0002540|Inability to walk;HP:0000411|Protruding ear;HP:0001583|Rotatory Nystagmus;HP:0001371|Flexion contractures of joints;HP:0001347|Hyperreflexia;HP:0000341|Narrow bitemporal diameter;HP:0000549|Abnormal conjugate eye movement;HP:0002510|Spastic quadriplegia;HP:0001387|Joint stiffness;HP:0004422|Biparietal narrowing;HP:0000400|Macrotia;HP:0001763|Pes planus;HP:0000737|Irritability;HP:0003487|Extensor plantar reflexes;HP:0100490|Camptodactyly of finger;HP:0001260|Dysarthric speech;HP:0002381|Aphasia;HP:0100015|Spock ear;HP:0001319|Hypotonia, in neonatal onset;HP:0003202|Skeletal muscle atrophy
hallermann-streiff syndrome	HP:0000157|Abnormality of the tongue;HP:0000028|Cryptorchidism;HP:0000160|Narrow mouth;HP:0000639|Nystagmus;HP:0000896|Rib exostoses;HP:0003508|Proportionate short stature;HP:0000568|Microphthalmia;HP:0000695|Natal tooth;HP:0000535|Sparse eyebrow;HP:0001006|Hypotrichosis;HP:0000545|Myopia;HP:0000453|Choanal atresia;HP:0000248|Brachycephaly;HP:0000929|Abnormality of the skull;HP:0001321|Cerebellar hypoplasia;HP:0001635|Congestive heart failure;HP:0000773|Short ribs;HP:0000347|Micrognathia;HP:0000506|Telecanthus;HP:0002007|Frontal bossing;HP:0010719|Abnormality of hair texture;HP:0002564|Malformation of the heart and great vessels;HP:0000486|Strabismus;HP:0000164|Abnormality of the teeth;HP:0002231|Sparse body hair;HP:0002779|Tracheomalacia;HP:0001773|Short foot;HP:0000554|Uveitis;HP:0002093|Respiratory insufficiency;HP:0003363|Abdominal situs inversus;HP:0000252|Microcephaly;HP:0000162|Glossoptosis;HP:0002757|Recurrent fractures;HP:0000519|Congenital cataract;HP:0000272|Malar flattening;HP:0004209|Clinodactyly of the 5th finger;HP:0200055|Small hand;HP:0000653|Sparse eyelashes;HP:0001249|Intellectual disability;HP:0002705|High, narrow palate;HP:0001596|Alopecia;HP:0000505|Visual impairment;HP:0004334|Dermal atrophy;HP:0000444|Convex nasal ridge;HP:0000235|Abnormality of the fontanelles or cranial sutures;HP:0004349|Reduced bone mineral density;HP:0000501|Glaucoma;HP:0011069|Increased number of teeth;HP:0000821|Hypothyroidism;HP:0000430|Underdeveloped nasal alae
ebola hemorrhagic fever	HP:0002239|Gastrointestinal hemorrhage;HP:0012733|Macule;HP:0012378|Fatigue;HP:0002027|Abdominal pain;HP:0000093|Proteinuria;HP:0006554|Acute hepatic failure;HP:0000083|Renal insufficiency;HP:0002091|Restrictive lung disease;HP:0003326|Myalgia;HP:0001873|Thrombocytopenia;HP:0001882|Leukopenia;HP:0001254|Lethargy;HP:0002014|Diarrhea;HP:0002017|Nausea and vomiting;HP:0012375|Chemosis;HP:0100776|Recurrent pharyngitis;HP:0001250|Seizures;HP:0000225|Gingival bleeding;HP:0001259|Coma;HP:0100608|Metrorrhagia;HP:0012735|Cough;HP:0000988|Skin rash;HP:0001892|Abnormal bleeding;HP:0000421|Epistaxis;HP:0001695|Cardiac arrest;HP:0100749|Chest pain;HP:0002315|Headache
medullary thyroid carcinoma	HP:0002716|Lymphadenopathy;HP:0001618|Dysphonia;HP:0000975|Hyperhidrosis;HP:0100526|Neoplasm of the lung;HP:0003528|Elevated calcitonin;HP:0002666|Pheochromocytoma;HP:0010622|Neoplasm of the skeletal system;HP:0002015|Dysphagia;HP:0002014|Diarrhea;HP:0005994|Nodular goiter;HP:0001824|Weight loss;HP:0030146|Abnormal liver parenchyma morphology;HP:0008200|Primary hyperparathyroidism;HP:0002865|Medullary thyroid carcinoma
bor syndrome	HP:0004467|Pit in front of the ear;HP:0000691|Decreased width of tooth;HP:0007925|Absent tear duct;HP:0004742|Abnormality of the renal collecting system;HP:0000402|Stenosis of the external auditory canal;HP:0000365|Hearing impairment;HP:0000799|Fatty kidney;HP:0010628|Facial palsy;HP:0000275|Decreased width of face;HP:0011094|Increased overlap of upper and lower incisors;HP:0009798|Euthyroid goiter;HP:0000074|Ureteropelvic junction obstruction;HP:0000083|Renal insufficiency;HP:0008678|Renal hypoplasia/aplasia;HP:0001374|Congenital hip dislocation;HP:0000126|Hydronephrosis;HP:0004452|Abnormality of the middle ear ossicles;HP:0000276|Long face;HP:0000410|Hearing loss, mixed;HP:0000104|Renal agenesis;HP:0009796|Branchial cysts;HP:0004458|Dilatated internal auditory canal;HP:0000175|Palatoschisis;HP:0000384|Preauricular skin tag;HP:0000076|Vesicoureteral reflux;HP:0008586|Hypoplasia of the cochlea;HP:0000413|Atresia of the external auditory canal;HP:0000175|Cleft palate;HP:0000003|Multicystic kidney dysplasia;HP:0000376|Incomplete partition of the cochlea type II;HP:0000218|Increased palatal height;HP:0009795|Branchial cleft fistula;HP:0004712|Abnormal rotation of the kidneys;HP:0007678|Nasolacrimal duct stenosis;HP:0011481|Abnormality of the lacrimal duct;HP:0000278|Retrognathia;HP:0000110|Renal dysplasia;HP:0009796|Branchial cyst;HP:0000113|Polycystic kidney dysplasia;HP:0002566|Intestinal malrotation;HP:0008586|Hypoplastic cochlea;HP:0002060|Abnormality of the cerebrum;HP:0000193|Uvula bifida;HP:0000378|Cupped ear;HP:0000076|Vesicoureteric reflux;HP:0008572|External ear malformation;HP:0011388|Enlarged cochlear aqueduct;HP:0100274|Gustatory lacrimation;HP:0008551|Hypoplasia of the external ear;HP:0010628|Facial palsy, unilateral or bilateral;HP:0009797|Cholesteatoma
triple a syndrome	HP:0001250|Seizures;HP:0002571|Achalasia;HP:0001251|Ataxia;HP:0002093|Respiratory insufficiency;HP:0000505|Visual impairment;HP:0001347|Hyperreflexia;HP:0004322|Short stature;HP:0000252|Microcephaly;HP:0007440|Generalized hyperpigmentation;HP:0000846|Adrenal insufficiency;HP:0002376|Developmental regression;HP:0000648|Optic atrophy;HP:0001252|Muscular hypotonia;HP:0000407|Sensorineural hearing impairment;HP:0000830|Anterior hypopituitarism;HP:0000982|Palmoplantar keratoderma;HP:0000612|Iris coloboma
congenital erythropoietic porphyria	HP:0001155|Abnormality of the hand;HP:0012086|Abnormal urinary color;HP:0001000|Abnormality of skin pigmentation;HP:0000987|Atypical scarring of skin;HP:0001873|Thrombocytopenia;HP:0010472|Abnormality of the heme biosynthetic pathway;HP:0001790|Nonimmune hydrops fetalis;HP:0008066|Abnormal blistering of the skin;HP:0001878|Hemolytic anemia;HP:0000656|Ectropion;HP:0002757|Recurrent fractures;HP:0000938|Osteopenia;HP:0000498|Blepharitis;HP:0001760|Abnormality of the foot;HP:0000495|Recurrent corneal erosions;HP:0000998|Hypertrichosis;HP:0001744|Splenomegaly;HP:0002721|Immunodeficiency;HP:0000992|Cutaneous photosensitivity;HP:0001072|Thickened skin;HP:0001096|Keratoconjunctivitis;HP:0001581|Recurrent skin infections
american trypanosomiasis	HP:0011355|Localized skin lesion;HP:0002571|Achalasia;HP:0002094|Dyspnea;HP:0002027|Abdominal pain;HP:0002251|Aganglionic megacolon;HP:0002383|Encephalitis;HP:0001635|Congestive heart failure;HP:0002716|Lymphadenopathy;HP:0003326|Myalgia;HP:0000707|Abnormality of the nervous system;HP:0002014|Diarrhea;HP:0009830|Peripheral neuropathy;HP:0012700|Abnormal large intestine physiology;HP:0001907|Thromboembolism;HP:0011675|Arrhythmia;HP:0001945|Fever;HP:0012819|Myocarditis;HP:0002240|Hepatomegaly;HP:0030057|Autoimmune antibody positivity;HP:0012735|Cough;HP:0001638|Cardiomyopathy;HP:0000988|Skin rash;HP:0001744|Splenomegaly;HP:0100539|Periorbital edema;HP:0000980|Pallor;HP:0002315|Headache;HP:0000969|Edema
benign schwannoma	HP:0200008|Intestinal polyposis;HP:0009588|Vestibular Schwannoma;HP:0010826|Abnormality of the twelfth cranial nerve;HP:0100008|Schwannoma;HP:0030177|Abnormality of peripheral nervous system electrophysiology;HP:0010628|Facial palsy;HP:0012531|Pain;HP:0002011|Morphological abnormality of the central nervous system;HP:0001600|Abnormality of the larynx;HP:0000769|Abnormality of the breast;HP:0009593|Peripheral Schwannoma;HP:0000197|Abnormality of parotid gland;HP:0012533|Allodynia;HP:0001291|Abnormality of the cranial nerves;HP:0000834|Abnormality of the adrenal glands;HP:0100011|Scleral schwannoma;HP:0100582|Nasal polyposis;HP:0002991|Abnormality of the fibula;HP:0001392|Abnormality of the liver;HP:0002321|Vertigo;HP:0002031|Abnormality of the esophagus;HP:0009911|Abnormality of the temporal bone;HP:0000364|Hearing abnormality;HP:0003489|Acute episodes of neuropathic symptoms;HP:0100697|Neurofibrosarcoma
dental ankylosis	HP:0000303|Increased size of lower jaw;HP:0004209|Clinodactyly of fifth digit;HP:0000303|Mandibular prognathia;HP:0000682|Abnormality of dental enamel;HP:0000164|Abnormality of the teeth;HP:0009804|Reduced number of teeth;HP:0004209|Clinodactyly of the 5th finger
erythroderma desquamativum	HP:0001051|Seborrheic dermatitis;HP:0002014|Diarrhea;HP:0001508|Failure to thrive;HP:0010978|Abnormality of immune system physiology
congenital nonhemolytic jaundice	HP:0008282|Unconjugated hyperbilirubinemia;HP:0000952|Yellow skin
hereditary hyperuricemia	HP:0001252|Hypotonia;HP:0001854|Podagra;HP:0000787|Renal calculi;HP:0001257|Spasticity;HP:0004322|Stature below 3rd percentile;HP:0002179|Opisthotonus;HP:0002071|Extrapyramidal dysfunction;HP:0001347|Hyperreflexia;HP:0001889|Megaloblastic anemia;HP:0001332|Dystonia;HP:0001266|Choreoathetosis;HP:0001260|Dysarthric speech;HP:0000029|Testicular degeneration;HP:0002015|Swallowing difficulty;HP:0002013|Emesis;HP:0003149|High urine uric acid level;HP:0001270|Motor retardation;HP:0001249|Mental retardation
usher syndrome type 3	HP:0000518|Cataract;HP:0007663|Central visual loss;HP:0000572|Visual loss;HP:0000512|Abnormal electroretinogram;HP:0001251|Ataxia;HP:0008499|High-grade hypermetropia;HP:0007730|Iris hypopigmentation;HP:0000407|Sensorineural hearing impairment;HP:0000739|Anxiety;HP:0000662|Poor night vision;HP:0000483|Astigmatism;HP:0000375|Abnormality of cochlea;HP:0001751|Vestibular dysfunction;HP:0012377|Hemianopsia;HP:0001756|Vestibular hypofunction;HP:0000575|Scotoma;HP:0100753|Schizophrenia;HP:0000510|Retinitis pigmentosa;HP:0000738|Hallucinations;HP:0000716|Depression;HP:0000407|sensorineural hearing loss;HP:0000662|Nyctalopia;HP:0001123|Partial loss of field of vision
angioosteohypertrophic syndrome	HP:0002239|Gastrointestinal hemorrhage;HP:0001012|Multiple lipomas;HP:0000518|Cataract;HP:0100543|Cognitive impairment;HP:0001048|Cavernous hemangioma;HP:0001704|Tricuspid valve prolapse;HP:0002653|Bone pain;HP:0100585|Telangiectasia of the skin;HP:0100729|Large face;HP:0001004|Lymphedema;HP:0001635|Congestive heart failure;HP:0000098|Tall stature;HP:0000965|Cutis marmorata;HP:0001528|Hemihypertrophy;HP:0002204|Pulmonary embolism;HP:0006101|Finger syndactyly;HP:0002564|Malformation of the heart and great vessels;HP:0100784|Peripheral arteriovenous fistula;HP:0007481|Hyperpigmented nevi;HP:0200042|Skin ulcer;HP:0000790|Hematuria;HP:0000140|Abnormality of the menstrual cycle;HP:0001250|Seizures;HP:0000324|Facial asymmetry;HP:0000256|Macrocephaly;HP:0004936|Venous thrombosis;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0002814|Abnormality of the lower limb;HP:0005293|Venous insufficiency;HP:0100761|Visceral angiomatosis;HP:0100554|Hemihypertrophy of upper limb;HP:0002597|Abnormality of the vasculature;HP:0004099|Macrodactyly;HP:0001180|Oligodactyly (hands);HP:0000995|Melanocytic nevus;HP:0001626|Abnormality of the cardiovascular system;HP:0100658|Cellulitis;HP:0001928|Abnormality of coagulation;HP:0100553|Hemihypertrophy of lower limb;HP:0001161|Hand polydactyly;HP:0000501|Glaucoma
arteritis, takayasu	HP:0012089|Arteritis
short syndrome	HP:0000689|Misalignment of upper and lower dental arches;HP:0000518|Cataract;HP:0000347|Hypoplasia of mandible;HP:0002715|Abnormality of the immune system;HP:0000490|Sunken eyes;HP:0009466|Radially deviated phalanges;HP:0000430|Nasal cartilage hypoplasia;HP:0003561|Birth length <3rd percentile;HP:0000963|Thin skin;HP:0000506|Telecanthus;HP:0010751|Gelasin of chin;HP:0000684|Delayed eruption of teeth;HP:0030084|Clinodactyly;HP:0002007|Frontal protruberance;HP:0100578|Lipoatrophy;HP:0009125|Lipodystrophy;HP:0000558|Rieger anomaly;HP:0010580|Large epiphyses;HP:0000750|Late-onset speech development;HP:0100678|Premature skin wrinkling;HP:0000833|Glucose intolerance;HP:0000400|Large ears;HP:0000545|Near sightedness;HP:0001518|Small for gestational age;HP:0001388|Joint laxity;HP:0000485|Enlarged cornea;HP:0002750|Delayed bone maturation;HP:0003074|High blood glucose;HP:0000431|Broad nasal root;HP:0000023|Inguinal hernia;HP:0001511|Prenatal onset growth retardation;HP:0000325|Triangular face;HP:0000407|sensorineural hearing loss;HP:0011220|Prominent forehead;HP:0000501|Glaucoma;HP:0000831|Insulin-resistant diabetes mellitus;HP:0000668|Failure of development of between one and six teeth
multiple carboxylase deficiency	HP:0000988|Skin rash;HP:0001263|Global developmental delay;HP:0001250|Seizures;HP:0000504|Abnormality of vision;HP:0001596|Alopecia;HP:0200037|Skin vesicle;HP:0100533|Inflammatory abnormality of the eye;HP:0100543|Cognitive impairment;HP:0001254|Lethargy;HP:0000364|Hearing abnormality;HP:0002715|Abnormality of the immune system;HP:0000365|Hearing impairment;HP:0001824|Weight loss;HP:0002017|Nausea and vomiting;HP:0001252|Muscular hypotonia;HP:0001595|Abnormality of the hair;HP:0008066|Abnormal blistering of the skin;HP:0000478|Abnormality of the eye
infant botulism	HP:0002094|Dyspnea;HP:0002015|Dysphagia;HP:0100021|Cerebral palsy;HP:0002019|Constipation;HP:0002027|Abdominal pain;HP:0000600|Abnormality of the pharynx;HP:0000217|Xerostomia;HP:0000508|Ptosis;HP:0001260|Dysarthria;HP:0002902|Hyponatremia;HP:0002615|Hypotension;HP:0000822|Hypertension;HP:0000298|Mask-like facies;HP:0011499|Mydriasis;HP:0002607|Bowel incontinence;HP:0100022|Abnormality of movement;HP:0001284|Areflexia;HP:0000389|Chronic otitis media;HP:0002747|Respiratory insufficiency due to muscle weakness;HP:0002307|Drooling;HP:0000651|Diplopia;HP:0002360|Sleep disturbance;HP:0001097|Keratoconjunctivitis sicca;HP:0001695|Cardiac arrest;HP:0001620|High pitched voice;HP:0006824|Cranial nerve paralysis;HP:0001252|Muscular hypotonia;HP:0002039|Anorexia
liposarcoma	HP:0003401|Paresthesia;HP:0000077|Abnormality of the kidney;HP:0012378|Fatigue;HP:0002027|Abdominal pain;HP:0001482|Subcutaneous nodule;HP:0002017|Nausea and vomiting;HP:0001824|Weight loss;HP:0100242|Sarcoma;HP:0002619|Varicose veins
medullary sponge kidney	HP:0002150|Hypercalciuria;HP:0000790|Hematuria;HP:0008341|Distal renal tubular acidosis;HP:0001528|Hemihypertrophy;HP:0000787|Nephrolithiasis
erythema elevatum diutinum	HP:0000988|Skin rash;HP:0002829|Arthralgia;HP:0003326|Myalgia;HP:0200029|Vasculitis in the skin;HP:0200037|Skin vesicle;HP:0200036|Skin nodule;HP:0008066|Abnormal blistering of the skin;HP:0010702|Increased antibody level in blood
axenfeld-rieger syndrome	HP:0000047|Hypospadias;HP:0002025|Anal stenosis;HP:0011800|Midface retrusion;HP:0000691|Microdontia;HP:0000864|Abnormality of the hypothalamus-pituitary axis;HP:0000506|Telecanthus;HP:0001582|Redundant skin;HP:0000327|Hypoplasia of the maxilla;HP:0000593|Abnormality of the anterior chamber;HP:0002564|Malformation of the heart and great vessels;HP:0000627|Posterior embryotoxon;HP:0008053|Aplasia/Hypoplasia of the iris;HP:0000316|Hypertelorism;HP:0000431|Wide nasal bridge;HP:0000365|Hearing impairment;HP:0000668|Hypodontia;HP:0005280|Depressed nasal bridge;HP:0000501|Glaucoma;HP:0000232|Everted lower lip vermilion;HP:0001510|Growth delay;HP:0011220|Prominent forehead
taurodontism	HP:0000679|Taurodontia;HP:0000679|Taurodont;HP:0000682|Abnormality of dental enamel
neonatal adrenoleukodystrophy	HP:0000639|Nystagmus;HP:0000518|Cataract;HP:0004322|Short stature;HP:0000463|Nostrils anteverted;HP:0002376|Developmental regression;HP:0000565|Inward turning of one or both eyes;HP:0000508|Ptosis;HP:0002269|Abnormality of neuronal migration;HP:0000286|Palpebronasal fold;HP:0007598|Bilateral single transverse palmar creases;HP:0000369|Low-set ears;HP:0000486|Strabismus;HP:0010696|Polar cataract;HP:0002007|Frontal protruberance;HP:0011344|Severe global developmental delay;HP:0000407|Sensorineural hearing impairment;HP:0001249|Mental retardation;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0003455|Elevated long chain fatty acids;HP:0001999|Facial dysmorphism;HP:0000256|Macrocephaly;HP:0000218|Increased palatal height;HP:0100022|Abnormality of movement;HP:0000260|Wide anterior fontanel;HP:0001392|Abnormality of the liver;HP:0000648|Optic atrophy;HP:0000431|Broad nasal root;HP:0000268|Dolichocephaly;HP:0000431|Wide nasal bridge;HP:0007703|Abnormality of retinal pigmentation;HP:0001939|Abnormality of metabolism/homeostasis;HP:0000846|Hypoadrenalism;HP:0000505|Visual impairment;HP:0000348|High forehead;HP:0001347|Hyperreflexia;HP:0000463|Anteverted nares;HP:0000368|Low-set, posteriorly rotated ears;HP:0008207|Primary adrenal insufficiency;HP:0000174|Abnormality of the palate;HP:0001252|Muscular hypotonia
paroxysmal extreme pain disorder	HP:0000632|Lacrimation abnormality;HP:0001250|Seizures;HP:0007328|Decreased pain sensation;HP:0002019|Constipation;HP:0200026|Ocular pain;HP:0001649|Tachycardia;HP:0001662|Bradycardia;HP:0200025|Mandibular pain
omenn syndrome	HP:0004332|Abnormality of lymphocytes;HP:0002960|Autoimmunity;HP:0100806|Sepsis;HP:0002716|Lymphadenopathy;HP:0100646|Thyroiditis;HP:0002028|Chronic diarrhea;HP:0004430|Severe combined immunodeficiency;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0001903|Anemia;HP:0001831|Short toe;HP:0002665|Lymphoma;HP:0001019|Erythroderma;HP:0001945|Fever;HP:0001508|Failure to thrive;HP:0002240|Hepatomegaly;HP:0007549|Desquamation of skin soon after birth;HP:0001744|Splenomegaly;HP:0001974|Leukocytosis;HP:0001596|Alopecia;HP:0000958|Dry skin;HP:0000100|Nephrotic syndrome;HP:0001072|Thickened skin;HP:0000989|Pruritus;HP:0002090|Pneumonia;HP:0000821|Hypothyroidism;HP:0000944|Abnormality of the metaphyses;HP:0001880|Eosinophilia;HP:0000969|Edema
majeed syndrome	HP:0200039|Pustule;HP:0001061|Acne;HP:0005901|Chronic recurrent multifocal osteomyelitis;HP:0003025|Metaphyseal irregularity;HP:0002653|Bone pain;HP:0001824|Weight loss;HP:0004810|Congenital hypoplastic anemia;HP:0011123|Inflammatory abnormality of the skin;HP:0002907|Microscopic hematuria;HP:0000093|Proteinuria;HP:0002829|Arthralgia;HP:0001371|Flexion contracture;HP:0003326|Myalgia;HP:0100820|Glomerulopathy;HP:0100769|Synovitis;HP:0002113|Pulmonary infiltrates;HP:0002659|Increased susceptibility to fractures;HP:0012647|Abnormal inflammatory response;HP:0004840|Hypochromic microcytic anemia;HP:0002024|Malabsorption;HP:0011001|Increased bone mineral density;HP:0001945|Fever;HP:0001508|Failure to thrive;HP:0002240|Hepatomegaly;HP:0012735|Cough;HP:0001744|Splenomegaly;HP:0001974|Leukocytosis;HP:0004326|Cachexia;HP:0005561|Abnormality of bone marrow cell morphology;HP:0200034|Papule;HP:0002315|Headache;HP:0000969|Edema
cutis laxa	HP:0001025|Urticaria;HP:0000160|Narrow mouth;HP:0000262|Turricephaly;HP:0000470|Short neck;HP:0000670|Carious teeth;HP:0001116|Macular coloboma;HP:0001263|Global developmental delay;HP:0001357|Plagiocephaly;HP:0000768|Pectus carinatum;HP:0000239|Large fontanelles;HP:0001650|Aortic valve stenosis;HP:0002110|Bronchiectasis;HP:0001629|Ventricular septal defect;HP:0001654|Abnormality of the heart valves;HP:0003196|Short nose;HP:0000072|Hydroureter;HP:0004322|Short stature;HP:0000474|Thickened nuchal skin fold;HP:0001373|Joint dislocation;HP:0007495|Prematurely aged appearance;HP:0000366|Abnormality of the nose;HP:0000767|Pectus excavatum;HP:0000010|Recurrent urinary tract infections;HP:0000508|Ptosis;HP:0001631|Atrial septal defect;HP:0010295|Aplasia/Hypoplasia of the tongue;HP:0002205|Recurrent respiratory infections;HP:0001635|Congestive heart failure;HP:0005222|Bowel diverticulosis;HP:0010783|Erythema;HP:0007392|Excessive wrinkled skin;HP:0000347|Micrognathia;HP:0000506|Telecanthus;HP:0000369|Low-set ears;HP:0002097|Emphysema;HP:0100628|Esophageal diverticulum;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0001643|Patent ductus arteriosus;HP:0010318|Aplasia/Hypoplasia of the abdominal wall musculature;HP:0001511|Intrauterine growth retardation;HP:0008066|Abnormal blistering of the skin;HP:0000076|Vesicoureteral reflux;HP:0001510|Growth delay;HP:0000494|Downslanted palpebral fissures;HP:0002024|Malabsorption;HP:0000286|Epicanthus;HP:0000457|Depressed nasal ridge;HP:0002093|Respiratory insufficiency;HP:0002607|Bowel incontinence;HP:0011800|Midface retrusion;HP:0100823|Genital hernia;HP:0002650|Scoliosis;HP:0000951|Abnormality of the skin;HP:0003272|Abnormality of the hip bone;HP:0007703|Abnormality of retinal pigmentation;HP:0000023|Inguinal hernia;HP:0001939|Abnormality of metabolism/homeostasis;HP:0011220|Prominent forehead;HP:0001974|Leukocytosis;HP:0004326|Cachexia;HP:0001363|Craniosynostosis;HP:0001324|Muscle weakness;HP:0001582|Redundant skin;HP:0100777|Exostoses;HP:0000463|Anteverted nares;HP:0100679|Lack of skin elasticity;HP:0000964|Eczema;HP:0000174|Abnormality of the palate;HP:0001252|Muscular hypotonia;HP:0000238|Hydrocephalus;HP:0004397|Ectopic anus;HP:0000821|Hypothyroidism
adiposis dolorosa	HP:0012378|Fatigue;HP:0000978|Bruising susceptibility;HP:0001482|Subcutaneous nodule;HP:0002019|Constipation;HP:0002354|Memory impairment;HP:0002960|Autoimmunity;HP:0002376|Developmental regression;HP:0100585|Telangiectasia of the skin;HP:0002225|Sparse pubic hair;HP:0000217|Xerostomia;HP:0002019|Dyschezia;HP:0002829|Arthralgia;HP:0003401|Paresthesia;HP:0002014|Diarrhea;HP:0002215|Sparse axillary hair;HP:0009830|Peripheral neuropathy;HP:0000739|Anxiety;HP:0007596|Painful subcutaneous lipomas;HP:0001250|Seizures;HP:0012532|Chronic pain;HP:0000709|Psychosis;HP:0002360|Sleep disturbance;HP:0001513|Obesity;HP:0000958|Dry skin;HP:0001369|Arthritis;HP:0000716|Depression;HP:0000821|Hypothyroidism;HP:0002315|Headache;HP:0001581|Recurrent skin infections;HP:0002829|Arthralgias
relapsing polychondritis	HP:0012733|Macule;HP:0002094|Dyspnea;HP:0000518|Cataract;HP:0001601|Laryngomalacia;HP:0100662|Chondritis;HP:0001376|Limitation of joint mobility;HP:0002793|Abnormal pattern of respiration;HP:0000093|Proteinuria;HP:0000083|Renal insufficiency;HP:0010783|Erythema;HP:0002829|Arthralgia;HP:0200047|Chondritis of pinna;HP:0001545|Anteriorly placed anus;HP:0100820|Glomerulopathy;HP:0004306|Abnormality of the endocardium;HP:0100533|Inflammatory abnormality of the eye;HP:0100534|Episcleritis;HP:0005310|Large vessel vasculitis;HP:0000790|Hematuria;HP:0000979|Purpura;HP:0000407|Sensorineural hearing impairment;HP:0002617|Aneurysm;HP:0000554|Uveitis;HP:0100532|Scleritis;HP:0001646|Abnormality of the aortic valve;HP:0004936|Venous thrombosis;HP:0100750|Atelectasis;HP:0012819|Myocarditis;HP:0000491|Keratitis;HP:0012735|Cough;HP:0001701|Pericarditis;HP:0011107|Recurrent aphthous stomatitis;HP:0002321|Vertigo;HP:0001596|Alopecia;HP:0001369|Arthritis;HP:0004422|Biparietal narrowing;HP:0000509|Conjunctivitis;HP:0006824|Cranial nerve paralysis;HP:0012115|Hepatitis;HP:0100758|Gangrene;HP:0004418|Thrombophlebitis
metachondromatosis	HP:0005701|Multiple enchondromatosis;HP:0001367|Anomaly of the joints;HP:0005655|Multiple digital exostoses;HP:0006487|Camptomelia
dubowitz syndrome	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0000218|High palate;HP:0002572|Episodic vomiting;HP:0000347|Micrognathia;HP:0004209|Clinodactyly of fifth digit;HP:0000154|Wide mouth;HP:0000506|Telecanthus;HP:0008897|Growth retardation as children;HP:0002564|Malformation of the heart and great vessels;HP:0001874|Abnormality of neutrophils;HP:0003298|Spina bifida occulta;HP:0000736|Short attention span;HP:0001249|Mental retardation;HP:0001903|Anemia;HP:0008872|Feeding difficulties in infancy;HP:0001252|Hypotonia;HP:0002024|Malabsorption;HP:0000388|Otitis media;HP:0002093|Respiratory insufficiency;HP:0002665|Lymphoma;HP:0002209|Sparse scalp hair;HP:0000252|Microcephaly;HP:0000455|Increased breadth of tip of nose;HP:0004209|Clinodactyly of the 5th finger;HP:0003006|Neuroblastoma;HP:0009602|Abnormality of thumb phalanx;HP:0009891|Underdeveloped supraorbital ridges;HP:0001231|Abnormality of the fingernails;HP:0000270|Delayed cranial suture closure;HP:0002209|Scalp hair, thinning;HP:0000670|Dental caries;HP:0000347|Hypoplasia of mandible;HP:0000545|Myopia;HP:0002213|Fine hair;HP:0008897|Postnatal growth retardation;HP:0000767|Pectus excavatum;HP:0002035|Rectal prolapse;HP:0000508|Ptosis;HP:0000047|Hypospadias;HP:0000965|Cutis marmorata;HP:0009891|Flat supraorbital margins;HP:0001873|Thrombocytopenia;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0000126|Hydronephrosis;HP:0000684|Delayed eruption of teeth;HP:0000164|Abnormality of the teeth;HP:0006721|Acute lymphatic leukemia;HP:0000540|Hypermetropia;HP:0000612|Iris coloboma;HP:0000750|Late-onset speech development;HP:0002025|Anal stenosis;HP:0000286|Epicanthus;HP:0009738|Abnormality of the antihelix;HP:0000294|Low anterior hairline;HP:0002750|Delayed bone maturation;HP:0000340|Receding forehead;HP:0000023|Inguinal hernia;HP:0001511|Prenatal onset growth retardation;HP:0200055|Small hand;HP:0001249|Intellectual disability;HP:0000829|Hypoparathyroidism;HP:0000958|Dry skin;HP:0002750|Delayed skeletal maturation;HP:0000368|Low-set, posteriorly rotated ears;HP:0000274|Hypoplasia of face;HP:0000238|Hydrocephalus;HP:0000055|Abnormality of female external genitalia;HP:0000752|Hyperactive behavior;HP:0000581|Blepharophimosis;HP:0002020|Heartburn;HP:0005280|Depressed nasal bridge;HP:0000220|Velopharyngeal insufficiency;HP:0001156|Brachydactyly syndrome;HP:0000369|Low-set ears;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0002719|infections, recurrent;HP:0002028|Chronic diarrhea;HP:0001852|Sandal gap;HP:0001773|Short foot;HP:0002720|Decreased immunoglobulin A;HP:0001250|Seizures;HP:0000275|Narrow face;HP:0000218|Increased palatal height;HP:0012745|Decreased height of palpebral fissure;HP:0006349|Agenesis of permanent dentition;HP:0000260|Wide anterior fontanel;HP:0002650|Scoliosis;HP:0004315|IgG deficiency;HP:0001800|Hypoplastic toenails;HP:0001363|Craniosynostosis;HP:0011304|Broad thumb;HP:0000568|Abnormally small globe of eye;HP:0001763|Pes planus;HP:0005338|Laterally sparse eyebrows;HP:0000508|Drooping upper eyelid;HP:0000176|Submucous cleft hard palate;HP:0000340|Sloping forehead;HP:0000486|Squint eyes;HP:0001915|Aplastic anemia;HP:0000518|Cataract;HP:0000547|Tapetoretinal degeneration;HP:0001770|Toe syndactyly;HP:0001000|Abnormality of skin pigmentation;HP:0005338|Sparse lateral eyebrow;HP:0007676|Hypoplasia of the iris;HP:0002099|Asthma;HP:0000286|Palpebronasal fold;HP:0000486|Strabismus;HP:0000960|Sacral dimple;HP:0001511|Intrauterine growth retardation;HP:0002719|Recurrent infections;HP:0000324|Asymmetry of face;HP:0000252|Small head circumference;HP:0002664|Neoplasm;HP:0000411|Prominent ears;HP:0000485|Enlarged cornea;HP:0007018|Attention deficit hyperactivity disorder;HP:0006721|Acute lymphocytic leukemia;HP:0000431|Broad nasal root;HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0000411|Protruding ear;HP:0000348|High forehead;HP:0000992|Cutaneous photosensitivity;HP:0001840|Metatarsus adductus;HP:0001620|High pitched voice;HP:0000964|Eczema
alpha-mannosidosis	HP:0001263|Global developmental delay;HP:0000470|Short neck;HP:0011039|Abnormality of the helix;HP:0006487|Bowing of the long bones;HP:0000518|Cataract;HP:0008821|Hypoplastic inferior ilia;HP:0000336|Prominent supraorbital ridges;HP:0000365|Hearing impairment;HP:0005280|Depressed nasal bridge;HP:0002205|Recurrent respiratory infections;HP:0002652|Skeletal dysplasia;HP:0000303|Mandibular prognathia;HP:0000316|Hypertelorism;HP:0000158|Macroglossia;HP:0002516|Increased intracranial pressure;HP:0011354|Generalized abnormality of skin;HP:0000708|Behavioral abnormality;HP:0005978|Type II diabetes mellitus;HP:0007957|Corneal opacity;HP:0000256|Macrocephaly;HP:0002650|Scoliosis;HP:0000389|Chronic otitis media;HP:0002808|Kyphosis;HP:0004493|Craniofacial hyperostosis;HP:0002240|Hepatomegaly;HP:0100240|Synostosis of joints;HP:0000023|Inguinal hernia;HP:0001249|Intellectual disability;HP:0001744|Splenomegaly;HP:0001385|Hip dysplasia;HP:0001369|Arthritis;HP:0010807|Open bite;HP:0002750|Delayed skeletal maturation;HP:0000738|Hallucinations;HP:0000400|Macrotia;HP:0000687|Widely spaced teeth;HP:0000280|Coarse facial features;HP:0010885|Aseptic necrosis;HP:0000212|Gingival overgrowth;HP:0001252|Muscular hypotonia;HP:0000189|Narrow palate;HP:0000689|Dental malocclusion
craniofrontonasal dysplasia	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0200053|Asymmetric leg shortening;HP:0000767|Funnel chest;HP:0001357|Plagiocephaly;HP:0006709|Aplasia/Hypoplasia of the nipples;HP:0000577|Exotropia;HP:0002079|Hypoplasia of the corpus callosum;HP:0000349|Hairline point;HP:0001770|Toe syndactyly;HP:0000248|Brachycephaly;HP:0012813|One underdeveloped breast;HP:0001809|Longitudinal splitting of nail;HP:0000316|Increased distance between eye sockets;HP:0000218|High palate;HP:0000474|Thickened nuchal skin fold;HP:0000912|Sprengel anomaly;HP:0002224|Woolly hair;HP:0000767|Pectus excavatum;HP:0000470|Decreased cervical height;HP:0001156|Brachydactyly syndrome;HP:0000047|Hypospadias;HP:0004322|Stature below 3rd percentile;HP:0004209|Clinodactyly of fifth digit;HP:0006101|Finger syndactyly;HP:0000506|Telecanthus;HP:0002007|Frontal bossing;HP:0010719|Abnormality of hair texture;HP:0005278|Small nasal tip;HP:0000456|Bifid tip of nose;HP:0000316|Hypertelorism;HP:0000204|Cleft upper lip;HP:0001852|Sandal gap;HP:0000164|Abnormality of the teeth;HP:0000049|Shawl scrotum;HP:0005692|Joint hyperflexibility;HP:0002007|Frontal protruberance;HP:0000776|Diaphragmatic hernia;HP:0000407|Sensorineural hearing impairment;HP:0000175|Palatoschisis;HP:0008402|Ridged fingernail;HP:0001060|Axillary pterygia;HP:0000494|Downslanted palpebral fissures;HP:0001252|Hypotonia;HP:0000889|Abnormality of the clavicle;HP:0000324|Asymmetry of face;HP:0000324|Facial asymmetry;HP:0000349|Widow's peak;HP:0001547|Abnormality of the rib cage;HP:0001263|Developmental retardation;HP:0000457|Depressed nasal ridge;HP:0000912|High scapula;HP:0001807|Grooved nails;HP:0001388|Joint laxity;HP:0000252|Microcephaly;HP:0002650|Scoliosis;HP:0001537|Umbilical hernias;HP:0004440|Craniosynostosis of coronal suture;HP:0000431|Broad nasal root;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0200021|Down-sloping shoulders;HP:0010059|Broad hallux phalanx;HP:0006585|Congenital pseudoarthrosis of the clavicle;HP:0000202|Oral cleft;HP:0001249|Intellectual disability;HP:0002162|Low posterior hairline;HP:0002162|Low posterior hair line;HP:0001363|Craniosynostosis;HP:0200021|Rounded shoulders;HP:0001808|Brittle nails;HP:0100490|Camptodactyly of finger;HP:0000494|Downward slanting palpebral fissures;HP:0001161|Hand polydactyly;HP:0010055|Abnormally broad great toes;HP:0001252|Muscular hypotonia;HP:0004122|Midline defect of the nose;HP:0001156|Brachydactyly;HP:0000776|Congenital diaphragmatic hernia
poland syndrome	HP:0000470|Short neck;HP:0001155|Abnormality of the hand;HP:0001651|Dextrocardia;HP:0009594|Retinal hamartoma;HP:0007477|Abnormal dermatoglyphics;HP:0000766|Abnormality of the sternum;HP:0002937|Hemivertebrae;HP:0007519|Lack of subcutaneous fatty tissue;HP:0000773|Short ribs;HP:0001171|Split hand;HP:0008678|Renal hypoplasia/aplasia;HP:0006008|Unilateral brachydactyly;HP:0006101|Finger syndactyly;HP:0003063|Abnormality of the humerus;HP:0100013|Neoplasm of the breast;HP:0006709|Aplasia/Hypoplasia of the nipples;HP:0001555|Asymmetry of the thorax;HP:0000772|Abnormality of the ribs;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0002814|Abnormality of the lower limb;HP:0001392|Abnormality of the liver;HP:0010311|Aplasia/Hypoplasia of the breasts;HP:0200055|Small hand;HP:0004050|Absent hand;HP:0002162|Low posterior hairline;HP:0006714|Aplasia/Hypoplasia of the sternum;HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0009700|Finger symphalangism;HP:0002488|Acute leukemia;HP:0010579|Cone-shaped epiphysis;HP:0004349|Reduced bone mineral density;HP:0002997|Abnormality of the ulna;HP:0000776|Congenital diaphragmatic hernia
schneckenbecken dysplasia	HP:0008873|Disproportionate short-limb short stature;HP:0000028|Cryptorchidism;HP:0000470|Short neck;HP:0000946|Hypoplastic ilia;HP:0005019|Diaphyseal thickening;HP:0000882|Hypoplastic scapulae;HP:0008108|Advanced tarsal ossification;HP:0001004|Lymphedema;HP:0008479|Hypoplastic vertebral bodies;HP:0000773|Short ribs;HP:0012107|Increased fibular diameter;HP:0000774|Narrow chest;HP:0000175|Cleft palate;HP:0003312|Abnormal form of the vertebral bodies;HP:0000256|Macrocephaly;HP:0000272|Malar flattening;HP:0000268|Dolichocephaly;HP:0005616|Accelerated skeletal maturation;HP:0001800|Hypoplastic toenails;HP:0000895|Lateral clavicle hook;HP:0000947|Dumbbell-shaped long bone;HP:0003038|Fibular hypoplasia;HP:0001231|Abnormality of the fingernails;HP:0000944|Abnormality of the metaphyses;HP:0002983|Micromelia;HP:0001561|Polyhydramnios
pfeiffer syndrome	HP:0000262|Turricephaly;HP:0000470|Short neck;HP:0004322|Short stature;HP:0000218|High palate;HP:0000508|Ptosis;HP:0001156|Brachydactyly syndrome;HP:0006101|Finger syndactyly;HP:0012368|Flat face;HP:0000303|Mandibular prognathia;HP:0003307|Hyperlordosis;HP:0000316|Hypertelorism;HP:0000194|Open mouth;HP:0000324|Facial asymmetry;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0000322|Short philtrum;HP:0001385|Hip dysplasia;HP:0000348|High forehead;HP:0005048|Synostosis of carpal bones;HP:0011304|Broad thumb;HP:0009773|Symphalangism affecting the phalanges of the hand;HP:0010669|Cheekbone underdevelopment
dysequilibrium syndrome	HP:0001250|Seizures;HP:0001251|Ataxia;HP:0000504|Abnormality of vision;HP:0001288|Gait disturbance;HP:0000518|Cataract;HP:0001347|Hyperreflexia;HP:0004322|Short stature;HP:0000486|Strabismus;HP:0100021|Cerebral palsy;HP:0100022|Abnormality of movement;HP:0001252|Muscular hypotonia;HP:0000478|Abnormality of the eye;HP:0003202|Skeletal muscle atrophy;HP:0001249|Intellectual disability
eosinophilic gastroenteritis	HP:0002243|Protein-losing enteropathy;HP:0001974|Leukocytosis;HP:0003565|Elevated erythrocyte sedimentation rate;HP:0002570|Steatorrhea;HP:0002013|Vomiting;HP:0001047|Atopic dermatitis;HP:0002014|Diarrhea;HP:0002015|Dysphagia;HP:0003193|Allergic rhinitis;HP:0002027|Abdominal pain;HP:0001824|Weight loss;HP:0011227|Elevated C-reactive protein level;HP:0002573|Hematochezia;HP:0001541|Ascites;HP:0002099|Asthma;HP:0003073|Hypoalbuminemia;HP:0001903|Anemia;HP:0002024|Malabsorption;HP:0000969|Edema
good syndrome	HP:0001618|Dysphonia;HP:0002094|Dyspnea;HP:0003473|Fatigable weakness;HP:0001873|Thrombocytopenia;HP:0002110|Bronchiectasis;HP:0100721|Mediastinal lymphadenopathy;HP:0002014|Diarrhea;HP:0000246|Sinusitis;HP:0001903|Anemia;HP:0000819|Diabetes mellitus;HP:0002015|Dysphagia;HP:0004313|Decreased antibody level in blood;HP:0100522|Thymoma;HP:0010515|Aplasia/Hypoplasia of the thymus;HP:0012735|Cough;HP:0000010|Recurrent urinary tract infections;HP:0000508|Ptosis;HP:0001581|Recurrent skin infections;HP:0001881|Abnormality of leukocytes;HP:0002205|Recurrent respiratory infections
acrocallosal syndrome	HP:0000028|Cryptorchidism;HP:0000047|Hypospadias;HP:0000889|Abnormality of the clavicle;HP:0000098|Tall stature;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0010864|Intellectual disability, severe;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0000256|Macrocephaly;HP:0000269|Prominent occiput;HP:0001199|Triphalangeal thumb;HP:0000260|Wide anterior fontanel;HP:0000316|Hypertelorism;HP:0001162|Postaxial hand polydactyly;HP:0000776|Congenital diaphragmatic hernia;HP:0000407|Sensorineural hearing impairment;HP:0000023|Inguinal hernia;HP:0001305|Dandy-Walker malformation;HP:0000340|Sloping forehead
greig cephalopolysyndactyly syndrome	HP:0001830|Postaxial foot polydactyly;HP:0001274|Agenesis of corpus callosum;HP:0001770|Toe syndactyly;HP:0001841|Preaxial foot polydactyly;HP:0006101|Finger syndactyly;HP:0000506|Telecanthus;HP:0002007|Frontal bossing;HP:0001537|Umbilical hernia;HP:0000316|Hypertelorism;HP:0001162|Postaxial hand polydactyly;HP:0001256|Intellectual disability, mild;HP:0001250|Seizures;HP:0001177|Preaxial hand polydactyly;HP:0000256|Macrocephaly;HP:0000431|Wide nasal bridge;HP:0010059|Broad hallux phalanx;HP:0005616|Accelerated skeletal maturation;HP:0001363|Craniosynostosis;HP:0000348|High forehead;HP:0011304|Broad thumb;HP:0000238|Hydrocephalus;HP:0000776|Congenital diaphragmatic hernia
disseminated superficial actinic porokeratosis	HP:0002860|Squamous cell carcinoma;HP:0200044|Porokeratosis;HP:0000989|Pruritus
cronkhite-canada syndrome	HP:0004390|Hamartomatous polyposis;HP:0001810|Dystrophic toenail;HP:0000518|Cataract;HP:0012378|Fatigue;HP:0200008|Intestinal polyposis;HP:0002027|Abdominal pain;HP:0001000|Abnormality of skin pigmentation;HP:0002232|Patchy alopecia;HP:0001004|Lymphedema;HP:0002672|Gastrointestinal carcinoma;HP:0002014|Diarrhea;HP:0002231|Sparse body hair;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0001903|Anemia;HP:0002024|Malabsorption;HP:0003003|Colon cancer;HP:0001250|Seizures;HP:0000224|Decreased taste sensation;HP:0002664|Neoplasm;HP:0000221|Furrowed tongue;HP:0000256|Macrocephaly;HP:0001182|Tapered finger;HP:0012126|Stomach cancer;HP:0002597|Abnormality of the vasculature;HP:0002240|Hepatomegaly;HP:0008391|Dystrophic fingernails;HP:0001744|Splenomegaly;HP:0001800|Hypoplastic toenails;HP:0004326|Cachexia;HP:0001596|Alopecia;HP:0001231|Abnormality of the fingernails;HP:0007440|Generalized hyperpigmentation;HP:0002039|Anorexia
kindler syndrome	HP:0002860|Squamous cell carcinoma;HP:0000670|Carious teeth;HP:0000262|Turricephaly;HP:0004334|Atrophic skin;HP:0000670|Dental caries;HP:0000682|Abnormality of dental enamel;HP:0002015|Dysphagia;HP:0005585|Spotty increased pigmentation;HP:0004378|Abnormality of the anus;HP:0007488|Diffuse skin atrophy;HP:0000929|Abnormality of the skull;HP:0001741|Phimosis;HP:0430007|Symblepharon;HP:0001000|Abnormality of skin pigmentation;HP:0002037|Inflammation of the large intestine;HP:0010044|Short 4th metacarpal;HP:0100517|Neoplasm of the urethra;HP:0006323|Premature loss of primary teeth;HP:0100825|Cheilitis;HP:0010783|Erythema;HP:0000987|Atypical scarring of skin;HP:0001371|Flexion contracture;HP:0001029|Poikiloderma;HP:0006101|Finger syndactyly;HP:0000704|Periodontitis;HP:0000972|Thick palms and soles;HP:0200020|Corneal erosion;HP:0001056|Milia;HP:0000772|Abnormality of the ribs;HP:0008066|Abnormal blistering of the skin;HP:0000982|Palmoplantar keratoderma;HP:0001903|Anemia;HP:0001602|Laryngeal stenosis;HP:0008388|Abnormality of the toenails;HP:0000992|Skin photosensitivity;HP:0000962|Hyperkeratosis;HP:0007957|Corneal opacity;HP:0005590|Spotty hypopigmentation;HP:0000230|Gingivitis;HP:0000656|Ectropion;HP:0002583|Colitis;HP:0001807|Grooved nails;HP:0009775|Amniotic constriction ring;HP:0100633|Esophagitis;HP:0002043|Esophageal stricture;HP:0000704|Pyorrhea;HP:0000992|Cutaneous photosensitivity;HP:0012227|Urethral stricture;HP:0007561|Telangiectases in sun-exposed and nonexposed skin;HP:0000509|Conjunctivitis;HP:0100490|Camptodactyly of finger;HP:0001030|Fragile skin;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0010047|Short 5th metacarpal;HP:0001581|Recurrent skin infections
l-2-hydroxyglutaric aciduria	HP:0002071|Abnormality of extrapyramidal motor function;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0004375|Neoplasm of the nervous system;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0010864|Intellectual disability, severe;HP:0000256|Macrocephaly;HP:0002383|Encephalitis;HP:0002357|Dysphasia;HP:0001252|Muscular hypotonia;HP:0006887|Intellectual disability, progressive;HP:0001285|Spastic tetraparesis
multicentric reticulohistiocytosis	HP:0004326|Cachexia;HP:0001369|Arthritis;HP:0001324|Muscle weakness;HP:0100727|Histiocytosis;HP:0001945|Fever;HP:0200036|Skin nodule
craniodiaphyseal dysplasia	HP:0000256|Macrocephaly;HP:0002007|Frontal bossing;HP:0000402|Stenosis of the external auditory canal;HP:0004322|Short stature;HP:0005280|Depressed nasal bridge;HP:0000280|Coarse facial features;HP:0004493|Craniofacial hyperostosis;HP:0005019|Diaphyseal thickening;HP:0000648|Optic atrophy;HP:0000772|Abnormality of the ribs;HP:0000431|Wide nasal bridge;HP:0000405|Conductive hearing impairment;HP:0001249|Intellectual disability
fish-eye disease	HP:0003233|Low HDL-cholesterol;HP:0002155|Increased triglycerides;HP:0001744|Splenomegaly;HP:0003141|Hyperbetalipoproteinemia;HP:0003362|Increased circulating very-low-density lipoprotein cholesterol;HP:0002716|Lymphadenopathy;HP:0003233|Hypoalphalipoproteinemia;HP:0000505|Visual impairment;HP:0007957|Corneal opacity;HP:0007759|Cloudy cornea;HP:0002240|Hepatomegaly;HP:0001681|Angina pectoris;HP:0002621|Atherosclerosis
proximal symphalangism	HP:0100264|Proximal symphalangism;HP:0005880|Metacarpophalangeal synostosis;HP:0006101|Finger syndactyly;HP:0008368|Tarsal synostosis;HP:0003070|Elbow ankylosis;HP:0005048|Synostosis of carpal bones;HP:0000486|Strabismus;HP:0003042|Elbow dislocation;HP:0003019|Abnormality of the wrist;HP:0001163|Abnormality of the metacarpal bones;HP:0100490|Camptodactyly of finger;HP:0000407|Sensorineural hearing impairment;HP:0040019|Finger clinodactyly;HP:0004209|Clinodactyly of the 5th finger;HP:0001156|Brachydactyly syndrome
autosomal dominant hypophosphatemic rickets	HP:0001635|Congestive heart failure;HP:0001637|Abnormality of the myocardium;HP:0000117|Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate;HP:0003109|Hyperphosphaturia;HP:0004322|Stature below 3rd percentile;HP:0002814|Abnormality of the leg;HP:0001324|Muscle weakness;HP:0003416|Spinal canal stenosis;HP:0002653|Bone pain;HP:0004322|Short stature;HP:0002757|Recurrent fractures;HP:0003155|Hyperphosphatasia;HP:0003324|Muscle weakness, diffuse;HP:0012378|Fatigue;HP:0002086|Abnormality of the respiratory system;HP:0000164|Abnormality of the teeth;HP:0004912|Hypophosphatemic rickets;HP:0002148|Hypophosphatemia;HP:0002749|Osteomalacia
arterial tortuosity syndrome	HP:0001263|Global developmental delay;HP:0002094|Dyspnea;HP:0004942|Aortic aneurysm;HP:0012378|Fatigue;HP:0000581|Blepharophimosis;HP:0003196|Short nose;HP:0000545|Myopia;HP:0100585|Telangiectasia of the skin;HP:0001166|Arachnodactyly;HP:0012745|Short palpebral fissure;HP:0001644|Dilated cardiomyopathy;HP:0001838|Rocker bottom foot;HP:0007495|Prematurely aged appearance;HP:0000974|Hyperextensible skin;HP:0002098|Respiratory distress;HP:0100545|Arterial stenosis;HP:0000563|Keratoconus;HP:0001635|Congestive heart failure;HP:0000963|Thin skin;HP:0001637|Abnormality of the myocardium;HP:0005743|Avascular necrosis of the capital femoral epiphysis;HP:0000276|Long face;HP:0000486|Strabismus;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0000822|Hypertension;HP:0001639|Hypertrophic cardiomyopathy;HP:0002617|Aneurysm;HP:0002647|Aortic dissection;HP:0002020|Gastroesophageal reflux;HP:0010668|Abnormality of the zygomatic bone;HP:0000256|Macrocephaly;HP:0001658|Myocardial infarction;HP:0004415|Pulmonary artery stenosis;HP:0002650|Scoliosis;HP:0011302|Long palm;HP:0000272|Malar flattening;HP:0001119|Keratoglobus;HP:0004209|Clinodactyly of the 5th finger;HP:0002021|Pyloric stenosis;HP:0012819|Myocarditis;HP:0000023|Inguinal hernia;HP:0100633|Esophagitis;HP:0001249|Intellectual disability;HP:0002616|Aortic root dilatation;HP:0001385|Hip dysplasia;HP:0001363|Craniosynostosis;HP:0002812|Coxa vara;HP:0005344|Abnormality of the carotid arteries;HP:0001582|Redundant skin;HP:0008501|Median cleft lip and palate;HP:0002878|Respiratory failure;HP:0100541|Femoral hernia;HP:0001695|Cardiac arrest;HP:0000400|Macrotia;HP:0001328|Specific learning disability;HP:0002827|Hip dislocation;HP:0006543|Cardiorespiratory arrest;HP:0001252|Muscular hypotonia;HP:0002036|Hiatus hernia;HP:0002673|Coxa valga
galactosialidosis	HP:0008166|Decreased beta galactosidase activity;HP:0001250|Seizures;HP:0000925|Abnormality of the vertebral column;HP:0007957|Corneal opacity;HP:0002652|Skeletal dysplasia;HP:0000524|Telangiectasia, conjunctival;HP:0000943|Dysostosis multiplex;HP:0000365|Hearing impairment;HP:0010729|Macular cherry red spot;HP:0003468|Abnormality of the vertebrae;HP:0000280|Coarse facial features;HP:0010729|Cherry red spot of the macula;HP:0003510|Proportionate dwarfism;HP:0007759|Cloudy cornea;HP:0001433|Enlarged liver and spleen;HP:0001028|Strawberry mark;HP:0001249|Mental retardation;HP:0001249|Intellectual disability
anodontia	HP:0000674|Anodontia
vici syndrome	HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0001274|Agenesis of corpus callosum;HP:0001103|Abnormality of the macula;HP:0007314|White matter neuronal heterotopia;HP:0000518|Cataract;HP:0004322|Short stature;HP:0000437|Depressed nasal tip;HP:0000601|Hypotelorism;HP:0001321|Cerebellar hypoplasia;HP:0000218|High palate;HP:0002205|Recurrent respiratory infections;HP:0005374|Cellular immunodeficiency;HP:0000316|Hypertelorism;HP:0001010|Hypopigmentation of the skin;HP:0001522|Death in infancy;HP:0002120|Cerebral cortical atrophy;HP:0008348|Immunoglobulin IgG2 deficiency;HP:0000407|Sensorineural hearing impairment;HP:0002719|Recurrent infections;HP:0011968|Feeding difficulties;HP:0008872|Feeding difficulties in infancy;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0001947|Renal tubular acidosis;HP:0000648|Optic atrophy;HP:0007703|Abnormality of retinal pigmentation;HP:0002360|Sleep disturbance;HP:0005999|Ureteral atresia;HP:0001638|Cardiomyopathy;HP:0001249|Intellectual disability;HP:0004315|IgG deficiency;HP:0012110|Hypoplasia of the pons;HP:0001387|Joint stiffness;HP:0001252|Muscular hypotonia
hyperostosis corticalis generalisata	HP:0000889|Abnormality of the clavicle;HP:0005789|Generalized osteosclerosis;HP:0000303|Mandibular prognathia;HP:0004437|Cranial hyperostosis;HP:0003103|Abnormal cortical bone morphology;HP:0005019|Diaphyseal thickening;HP:0010628|Facial palsy;HP:0000407|Sensorineural hearing impairment
vipoma	HP:0001438|Abnormality of the abdomen;HP:0005208|Secretory diarrhea;HP:0002896|Neoplasm of the liver;HP:0001824|Weight loss;HP:0000845|Growth hormone excess;HP:0012432|Chronic fatigue;HP:0003005|Ganglioneuroma;HP:0006731|Follicular thyroid carcinoma;HP:0002573|Hematochezia;HP:0010783|Erythema;HP:0001031|Subcutaneous lipoma;HP:0000837|Increased circulating gonadotropin level;HP:0002017|Nausea and vomiting;HP:0003394|Muscle cramps;HP:0001895|Normochromic anemia;HP:0012334|Extrahepatic cholestasis;HP:0001944|Dehydration;HP:0002574|Episodic abdominal pain;HP:0008200|Primary hyperparathyroidism;HP:0001541|Ascites;HP:0002024|Malabsorption;HP:0008256|Adrenocortical adenoma;HP:0003528|Elevated calcitonin;HP:0001406|Intrahepatic cholestasis;HP:0002893|Pituitary adenoma;HP:0002900|Hypokalemia;HP:0002747|Respiratory insufficiency due to muscle weakness;HP:0002240|Hepatomegaly;HP:0001578|Hypercortisolism;HP:0000820|Abnormality of the thyroid gland;HP:0003072|Hypercalcemia;HP:0004396|Poor appetite;HP:0001046|Intermittent jaundice;HP:0000870|Prolactin excess;HP:0002894|Neoplasm of the pancreas;HP:0000819|Diabetes mellitus;HP:0030895|Abnormal gastrointestinal motility;HP:0003324|Generalized muscle weakness;HP:0006719|Benign gastrointestinal tract tumors;HP:0002039|Anorexia;HP:0002897|Parathyroid adenoma
spondyloepiphyseal dysplasia tarda	HP:0002829|Arthralgia;HP:0002938|Lumbar hyperlordosis;HP:0000470|Short neck;HP:0002812|Coxa vara;HP:0001552|Barrel-shaped chest;HP:0002866|Hypoplastic iliac wing;HP:0009824|Upper limb undergrowth;HP:0002942|Thoracic kyphosis;HP:0002650|Scoliosis;HP:0008843|Hip osteoarthritis;HP:0003498|Disproportionate short stature;HP:0002758|Osteoarthritis;HP:0005930|Abnormality of epiphysis morphology;HP:0000926|Platyspondyly;HP:0003311|Hypoplasia of the odontoid process;HP:0010306|Short thorax;HP:0002655|Spondyloepiphyseal dysplasia
neu-laxova syndrome	HP:0002179|Opisthotonus;HP:0000520|Proptosis;HP:0007227|Macrogyria;HP:0000176|Submucous cleft hard palate;HP:0002089|Pulmonary hypoplasia;HP:0000492|Abnormality of the eyelid;HP:0002748|Rickets;HP:0000518|Cataract;HP:0002334|Abnormality of the cerebellar vermis;HP:0001331|Absent septum pellucidum;HP:0001059|Pterygium;HP:0000288|Abnormality of the philtrum;HP:0002119|Ventriculomegaly;HP:0001176|Large hands;HP:0001321|Cerebellar hypoplasia;HP:0002749|Osteomalacia;HP:0030680|Abnormality of cardiovascular system morphology;HP:0000232|Everted lower lip vermilion;HP:0001339|Lissencephaly;HP:0000135|Hypogonadism;HP:0002269|Abnormality of neuronal migration;HP:0001460|Aplasia/Hypoplasia involving the skeletal musculature;HP:0001371|Flexion contracture;HP:0000347|Micrognathia;HP:0002536|Abnormal cortical gyration;HP:0002983|Micromelia;HP:0000193|Bifid uvula;HP:0000316|Hypertelorism;HP:0001561|Polyhydramnios;HP:0003394|Muscle cramps;HP:0001511|Intrauterine growth retardation;HP:0000062|Ambiguous genitalia;HP:0001302|Pachygyria;HP:0012471|Thick vermilion border;HP:0002414|Spina bifida;HP:0002804|Arthrogryposis multiplex congenita;HP:0003241|External genital hypoplasia;HP:0000175|Cleft palate;HP:0000457|Depressed nasal ridge;HP:0000153|Abnormality of the mouth;HP:0000211|Trismus;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0000951|Abnormality of the skin;HP:0000938|Osteopenia;HP:0000939|Osteoporosis;HP:0002514|Cerebral calcification;HP:0001595|Abnormality of the hair;HP:0003560|Muscular dystrophy;HP:0001305|Dandy-Walker malformation;HP:0001769|Broad foot;HP:0000278|Retrognathia;HP:0001558|Decreased fetal movement;HP:0000269|Prominent occiput;HP:0100679|Lack of skin elasticity;HP:0002126|Polymicrogyria;HP:0000400|Macrotia;HP:0000499|Abnormality of the eyelashes;HP:0000614|Abnormality of the nasolacrimal system;HP:0012639|Abnormality of nervous system morphology;HP:0008064|Ichthyosis;HP:0003202|Skeletal muscle atrophy;HP:0000340|Sloping forehead
carpenter syndrome	HP:0000028|Cryptorchidism;HP:0000262|Turricephaly;HP:0030680|Abnormality of cardiovascular system morphology;HP:0001770|Toe syndactyly;HP:0012243|Abnormal genital system morphology;HP:0000929|Abnormality of the skull;HP:0001156|Brachydactyly syndrome;HP:0000481|Abnormality of the cornea;HP:0001841|Preaxial foot polydactyly;HP:0006101|Finger syndactyly;HP:0002676|Cloverleaf skull;HP:0001537|Umbilical hernia;HP:0001762|Talipes equinovarus;HP:0001162|Postaxial hand polydactyly;HP:0001643|Patent ductus arteriosus;HP:0003241|External genital hypoplasia;HP:0002751|Kyphoscoliosis;HP:0002857|Genu valgum;HP:0001249|Intellectual disability;HP:0000263|Oxycephaly;HP:0001159|Syndactyly;HP:0001363|Craniosynostosis;HP:0001513|Obesity;HP:0011304|Broad thumb;HP:0010442|Polydactyly;HP:0001748|Polysplenia
pulmonary valve stenosis	HP:0001642|Pulmonic stenosis
pituitary apoplexy	HP:0000863|Central diabetes insipidus;HP:0008202|Prolactin deficiency;HP:0000815|Hypergonadotropic hypogonadism;HP:0011748|Adrenocorticotropic hormone deficiency;HP:0030591|Abnormal kinetic perimetry test;HP:0012378|Fatigue;HP:0000845|Growth hormone excess;HP:0000824|Growth hormone deficiency;HP:0000980|Pallor;HP:0000622|Blurred vision;HP:0000508|Ptosis;HP:0030907|Thunderclap headache;HP:0007663|Reduced visual acuity;HP:0000876|Oligomenorrhea;HP:0001262|Excessive daytime somnolence;HP:0100661|Trigeminal neuralgia;HP:0001289|Confusion;HP:0002902|Hyponatremia;HP:0040075|Hypopituitarism;HP:0002615|Hypotension;HP:0000822|Hypertension;HP:0001943|Hypoglycemia;HP:0002017|Nausea and vomiting;HP:0001895|Normochromic anemia;HP:0100829|Galactorrhea;HP:0002921|Abnormality of the cerebrospinal fluid;HP:0011499|Mydriasis;HP:0002893|Pituitary adenoma;HP:0002339|Abnormality of the caudate nucleus;HP:0001259|Coma;HP:0001945|Fever;HP:0000651|Diplopia;HP:0001578|Hypercortisolism;HP:0030595|Abnormal static automated perimetry test;HP:0000802|Impotence;HP:0000870|Prolactin excess;HP:0000613|Photophobia;HP:0006824|Cranial nerve paralysis;HP:0030521|Bitemporal hemianopia;HP:0002315|Headache;HP:0008245|Pituitary hypothyroidism
meckel syndrome	HP:0001830|Postaxial foot polydactyly;HP:0000028|Cryptorchidism;HP:0001746|Asplenia;HP:0000037|Male pseudohermaphroditism;HP:0006487|Bowing of the long bones;HP:0000568|Microphthalmia;HP:0100732|Pancreatic fibrosis;HP:0000068|Urethral atresia;HP:0000647|Sclerocornea;HP:0000518|Cataract;HP:0001562|Oligohydramnios;HP:0001696|Situs inversus totalis;HP:0010295|Aplasia/Hypoplasia of the tongue;HP:0000347|Micrognathia;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0002564|Malformation of the heart and great vessels;HP:0000532|Chorioretinal abnormality;HP:0008053|Aplasia/Hypoplasia of the iris;HP:0000316|Hypertelorism;HP:0001162|Postaxial hand polydactyly;HP:0000062|Ambiguous genitalia;HP:0001737|Pancreatic cysts;HP:0002612|Congenital hepatic fibrosis;HP:0006706|Cystic liver disease;HP:0000175|Cleft palate;HP:0000003|Multicystic kidney dysplasia;HP:0001177|Preaxial hand polydactyly;HP:0000457|Depressed nasal ridge;HP:0000221|Furrowed tongue;HP:0000293|Full cheeks;HP:0000252|Microcephaly;HP:0000528|Anophthalmia;HP:0000648|Optic atrophy;HP:0010459|True hermaphroditism;HP:0001305|Dandy-Walker malformation;HP:0001883|Talipes;HP:0000073|Ureteral duplication;HP:0000368|Low-set, posteriorly rotated ears;HP:0001747|Accessory spleen;HP:0002084|Encephalocele;HP:0006870|Lobar holoprosencephaly;HP:0000340|Sloping forehead;HP:0000238|Hydrocephalus;HP:0002323|Anencephaly;HP:0000482|Microcornea
pyruvate kinase deficiency	HP:0001744|Splenomegaly;HP:0000952|Yellow skin;HP:0001923|Reticulocytosis;HP:0004870|hemolytic anemia, chronic;HP:0001790|Nonimmune hydrops fetalis;HP:0001511|Prenatal onset growth retardation;HP:0001082|Cholecystitis;HP:0001560|Abnormality of the amniotic fluid;HP:0008282|Unconjugated hyperbilirubinemia;HP:0005502|Increased red cell osmotic fragility;HP:0001081|Gallstones
stargardt disease	HP:0008059|Aplasia/Hypoplasia of the macula;HP:0007722|Loss of retinal pigment epithelium;HP:0000610|Abnormality of the choroid;HP:0000551|Abnormality of color vision;HP:0000603|Central scotoma;HP:0000608|Macular degeneration;HP:0000649|Abnormality of visual evoked potentials;HP:0007814|Salt and pepper retinopathy;HP:0000493|Abnormality of the fovea;HP:0008002|Abnormality of macular pigmentation;HP:0030500|Yellow/white lesions of the macula;HP:0007704|Paroxysmal involuntary eye movements;HP:0007663|Reduced visual acuity;HP:0030329|Retinal thinning;HP:0000662|Nyctalopia
giant axonal neuropathy	HP:0001317|Abnormality of the cerebellum;HP:0002355|Difficulty walking;HP:0010628|Facial palsy;HP:0002527|Falls;HP:0001290|Generalized hypotonia;HP:0002224|Woolly hair;HP:0003429|CNS hypomyelination;HP:0003487|Babinski sign;HP:0001257|Spasticity;HP:0002235|Pili canaliculi;HP:0001762|Talipes equinovarus;HP:0005922|Abnormal hand morphology;HP:0003690|Limb muscle weakness;HP:0003701|Proximal muscle weakness;HP:0002650|Scoliosis;HP:0003405|Diffuse axonal swelling;HP:0001284|Areflexia;HP:0002857|Genu valgum;HP:0001761|Pes cavus;HP:0001249|Intellectual disability;HP:0002936|Distal sensory impairment;HP:0001382|Joint hypermobility;HP:0002317|Unsteady gait;HP:0012503|Abnormality of the pituitary gland;HP:0005109|Abnormality of the Achilles tendon;HP:0002460|Distal muscle weakness
pierre robin sequence	HP:0002643|Respiratory distress, neonatal;HP:0000162|Retraction of the tongue;HP:0000347|Hypoplasia of mandible;HP:0001648|Cor pulmonale;HP:0002781|Upper airway obstruction;HP:0000175|Palatoschisis;HP:0000201|Pierre-robin deformity;HP:0008872|Feeding difficulties in infancy
hypoalphalipoproteinemia	HP:0007957|Corneal opacity;HP:0001645|Sudden cardiac death;HP:0001658|Myocardial infarction;HP:0002326|Transient ischemic attack;HP:0003119|Abnormality of lipid metabolism;HP:0011675|Arrhythmia;HP:0001114|Xanthelasma;HP:0001681|Angina pectoris;HP:0002621|Atherosclerosis
normal pressure hydrocephalus	HP:0002607|Anal incontinence;HP:0001263|Developmental retardation;HP:0001288|Gait disturbance;HP:0002343|Normal-pressure hydrocephalus;HP:0000726|Dementia;HP:0000020|Bladder incontinence
adenomyosis	HP:0001892|Bleeding diathesis;HP:0000119|Genitourinary abnormality;HP:0100607|Painful menstruation
homocystinuria due to cystathionine beta-synthase deficiency	HP:0002156|High urine homocystine levels;HP:0040160|Generalized osteoporosis;HP:0000767|Funnel chest;HP:0012075|Personality disorder;HP:0001166|Long, slender fingers;HP:0002299|Brittle hair;HP:0001519|Dolichostenomelia;HP:0000678|Dental crowding;HP:0001083|Dislocated lenses;HP:0001010|Hypopigmentation of the skin;HP:0001249|Mental retardation;HP:0001250|Seizures;HP:0002751|Kyphoscoliosis;HP:0000965|Livedo reticularis;HP:0001658|Myocardial infarction;HP:0000545|Near sightedness;HP:0001733|Pancreatic inflammation;HP:0000218|Increased palatal height;HP:0001508|Weight faltering;HP:0001397|Hepatic steatosis;HP:0001297|Cerebral vascular events;HP:0000023|Inguinal hernia;HP:0001376|Decreased joint mobility;HP:0004586|Fish vertebrae;HP:0001907|Thromboembolic disease;HP:0001634|Mitral valve prolapse;HP:0000098|Increased body height;HP:0000716|Depression;HP:0000501|Glaucoma;HP:0000768|Pectus carinatum
familial cold autoinflammatory syndrome	HP:0001974|Leukocytosis;HP:0001917|Renal amyloidosis;HP:0002315|Headaches;HP:0000509|Conjunctivitis;HP:0001954|Increased body temperature, episodic;HP:0002829|Arthralgias;HP:0003326|Muscle pain
familial hypocalciuric hypercalcemia	HP:0004398|Peptic ulcer;HP:0000843|Hyperparathyroidism;HP:0000787|Nephrolithiasis;HP:0003127|Low urine calcium levels;HP:0012378|Fatigue;HP:0001733|Pancreatitis;HP:0012032|Lipoma;HP:0002960|Autoimmunity;HP:0002918|Hypermagnesemia;HP:0000934|Chondrocalcinosis;HP:0002017|Nausea and vomiting;HP:0008732|Renal hypophosphatemia;HP:0012609|Hypomagnesiuria;HP:0002574|Episodic abdominal pain;HP:0002918|High blood magnesium levels;HP:0001733|Pancreatic inflammation;HP:0000121|Nephrocalcinosis;HP:0003127|Hypocalciuria;HP:0008250|Infantile hypercalcemia;HP:0003529|Parathormone-independent increased renal tubular calcium reabsorption;HP:0000787|Renal calculi;HP:0003072|Hypercalcemia;HP:0002199|Hypocalcemic seizures;HP:0003513|Reduced ratio of renal calcium clearance to creatinine clearance;HP:0002315|Headache;HP:0002749|Osteomalacia
chanarin-dorfman syndrome	HP:0001871|Abnormality of blood and blood-forming tissues;HP:0000639|Nystagmus;HP:0001596|Hair loss;HP:0002240|Enlarged liver;HP:0000486|Squint eyes;HP:0003198|Myopathic changes;HP:0001251|Ataxia;HP:0000656|Ectropion;HP:0000523|Subcapsular cataract;HP:0000407|sensorineural hearing loss;HP:0001324|Muscular weakness;HP:0001397|Hepatic steatosis;HP:0000232|Everted prominent lower lip;HP:0008551|Hypoplasia of the external ear;HP:0001249|Mental retardation;HP:0007479|Nonbullous congenital ichthyosis
shwachman diamond syndrome	HP:0002643|Respiratory distress, neonatal;HP:0002240|Enlarged liver;HP:0003300|Oval vertebral bodies;HP:0002863|Myelodysplastic syndrome;HP:0002910|Elevated transaminases;HP:0000920|Enlarged costochondral junctions;HP:0004322|Stature below 3rd percentile;HP:0001876|Low blood cell count;HP:0002719|infections, recurrent;HP:0005871|Metaphyseal chondrodysplasia;HP:0001700|Myocardial necrosis;HP:0001903|Anemia;HP:0003016|Wide metaphyses;HP:0000907|Anteriorly splayed ribs;HP:0001263|Developmental retardation;HP:0008803|Narrow sacroiliac notch;HP:0001518|Small for gestational age;HP:0000121|Nephrocalcinosis;HP:0002750|Delayed bone maturation;HP:0000774|Low chest circumference;HP:0001508|Weight faltering;HP:0004808|Acute myelogenous leukemia;HP:0006598|Irregular ossification at anterior rib ends;HP:0001875|Neutropenia;HP:0001873|Low platelet count;HP:0004979|Metaphyseal sclerosis;HP:0001738|Exocrine pancreatic insufficiency;HP:0002570|Steatorrhea;HP:0002812|Coxa vara;HP:0006461|Slipped capilal femoral epiphysis;HP:0001328|Specific learning disability;HP:0001256|Mild mental retardation;HP:0011904|Persistence of hemoglobin F;HP:0003411|Proximal femoral metaphyseal irregularity
blepharophimosis, ptosis, and epicanthus inversus	HP:0000639|Nystagmus;HP:0000486|Squint eyes;HP:0000141|Abnormal absence of menstruation;HP:0000506|Telecanthus;HP:0008209|Premature ovarian failure;HP:0001595|Hair abnormality;HP:0000482|Microcornea;HP:0000581|Blepharophimosis;HP:0000218|Increased palatal height;HP:0005280|Flat, nasal bridge;HP:0000568|Abnormally small globe of eye;HP:0008222|Female infertility;HP:0000378|Cupped ear;HP:0000431|Broad nasal root;HP:0000508|Drooping upper eyelid;HP:0000540|Hypermetropia;HP:0000837|Elevated gonadotropins;HP:0000769|Abnormality of the breast;HP:0000537|Epicanthus inversus
leukemia, acute myeloid	HP:0004808|Acute myelogenous leukemia
loeys-dietz syndrome	HP:0001065|Striae distensae;HP:0004942|Aortic aneurysm;HP:0000978|Bruising susceptibility;HP:0001166|Arachnodactyly;HP:0000592|Blue sclerae;HP:0005294|Arterial dissection;HP:0000218|High palate;HP:0001373|Joint dislocation;HP:0000767|Pectus excavatum;HP:0000963|Thin skin;HP:0000987|Atypical scarring of skin;HP:0000098|Tall stature;HP:0000347|Micrognathia;HP:0000193|Bifid uvula;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0001643|Patent ductus arteriosus;HP:0002617|Aneurysm;HP:0002647|Aortic dissection;HP:0100718|Uterine rupture;HP:0002650|Scoliosis;HP:0005116|Arterial tortuosity;HP:0000272|Malar flattening;HP:0000202|Oral cleft;HP:0001892|Abnormal bleeding;HP:0001363|Craniosynostosis;HP:0001695|Cardiac arrest;HP:0100490|Camptodactyly of finger;HP:0001763|Pes planus;HP:0000768|Pectus carinatum
carney triad	HP:0100243|Leiomyosarcoma;HP:0002716|Lymphadenopathy;HP:0002239|Gastrointestinal hemorrhage;HP:0008256|Adrenocortical adenoma;HP:0002666|Pheochromocytoma;HP:0002668|Paraganglioma;HP:0012378|Fatigue;HP:0100721|Mediastinal lymphadenopathy;HP:0002014|Diarrhea;HP:0011675|Arrhythmia;HP:0002027|Abdominal pain;HP:0000822|Hypertension;HP:0002017|Nausea and vomiting;HP:0002113|Pulmonary infiltrates;HP:0002315|Headache;HP:0002717|Adrenal overactivity;HP:0001649|Tachycardia;HP:0001541|Ascites;HP:0002039|Anorexia;HP:0001903|Anemia;HP:0100723|Gastrointestinal stroma tumor
desmoplastic small round cell tumor	HP:0002716|Lymphadenopathy;HP:0003270|Abdominal distention;HP:0004326|Cachexia;HP:0100526|Neoplasm of the lung;HP:0100006|Neoplasm of the central nervous system;HP:0002894|Neoplasm of the pancreas;HP:0100721|Mediastinal lymphadenopathy;HP:0100615|Ovarian neoplasm;HP:0010788|Testicular neoplasm;HP:0002027|Abdominal pain;HP:0100242|Sarcoma;HP:0002017|Nausea and vomiting;HP:0001824|Weight loss;HP:0002585|Abnormality of the peritoneum;HP:0002240|Hepatomegaly;HP:0001541|Ascites;HP:0002595|Ileus;HP:0001903|Anemia
hypophosphatemic rickets	HP:0001363|Craniosynostosis;HP:0006487|Bowing of the long bones;HP:0000682|Abnormality of dental enamel;HP:0001387|Joint stiffness;HP:0004322|Short stature;HP:0002650|Scoliosis;HP:0100777|Exostoses;HP:0000684|Delayed eruption of teeth;HP:0100530|Abnormality of calcium-phosphate metabolism;HP:0000268|Dolichocephaly;HP:0000767|Pectus excavatum
pierson syndrome	HP:0007774|Hypoplasia of the ciliary body;HP:0001252|Hypotonia;HP:0003774|End-stage renal failure;HP:0011502|Posterior lenticonus;HP:0000618|Blindness;HP:0001967|Diffuse mesangial sclerosis;HP:0001284|Areflexia;HP:0003075|Hypoproteinemia;HP:0000100|Nephrosis;HP:0000969|Dropsy;HP:0007676|Hypoplasia of the iris;HP:0000093|Proteinuria
gapo syndrome	HP:0000639|Nystagmus;HP:0011800|Midface retrusion;HP:0000787|Nephrolithiasis;HP:0000535|Sparse eyebrow;HP:0004322|Short stature;HP:0000347|Hypoplasia of mandible;HP:0000545|Myopia;HP:0000798|Oligospermia;HP:0000365|Hearing impairment;HP:0000453|Choanal atresia;HP:0001006|Marked hypotrichosis;HP:0007495|Prematurely aged appearance;HP:0005280|Depressed nasal bridge;HP:0000232|Everted lower lip vermilion;HP:0000974|Hyperextensible skin;HP:0100659|Abnormality of the cerebral vasculature;HP:0000337|Broad forehead;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0002557|Hypoplastic nipples;HP:0000648|Optic-nerve degeneration;HP:0000563|Keratoconus;HP:0000135|Hypogonadism;HP:0000347|Micrognathia;HP:0001939|Laboratory abnormality;HP:0002007|Frontal bossing;HP:0000303|Mandibular prognathia;HP:0000369|Low-set ears;HP:0001537|Umbilical hernia;HP:0001053|Hypopigmented skin patches;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0001555|Asymmetry of the thorax;HP:0000164|Abnormality of the teeth;HP:0000563|Conical cornea;HP:0000684|Delayed eruption of teeth;HP:0002007|Frontal protruberance;HP:0002516|Increased intracranial pressure;HP:0000179|Plump lower lip;HP:0002234|Early balding;HP:0004331|Decreased skull ossification;HP:0001028|Hemangioma;HP:0001510|Growth delay;HP:0100607|Dysmenorrhea;HP:0000889|Abnormality of the clavicle;HP:0003312|Abnormal form of the vertebral bodies;HP:0000411|Prominent ears;HP:0005280|Flat, nasal bridge;HP:0000260|Wide anterior fontanel;HP:0002750|Delayed bone maturation;HP:0001043|Prominent scalp veins;HP:0001537|Umbilical hernias;HP:0000648|Optic atrophy;HP:0009928|Thick nasal alae;HP:0000653|Sparse eyelashes;HP:0010609|Skin tags;HP:0001596|Hair loss;HP:0003187|Underdeveloped breasts;HP:0000141|Amenorrhea;HP:0001596|Alopecia;HP:0000505|Visual impairment;HP:0000348|High forehead;HP:0002750|Delayed skeletal maturation;HP:0000463|Anteverted nares;HP:0005576|Renal interstitial fibrosis;HP:0001510|Growth deficiency;HP:0000765|Abnormality of the thorax;HP:0009891|Underdeveloped supraorbital ridges;HP:0000270|Late closing fontanelles;HP:0000174|Abnormality of the palate;HP:0000501|Glaucoma;HP:0000944|Abnormality of the metaphyses;HP:0100540|Palpebral edema;HP:0002621|Atherosclerosis
potocki-shaffer syndrome	HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0003196|Short nose;HP:0000248|Brachycephaly;HP:0002697|Parietal foramina;HP:0000437|Depressed nasal tip;HP:0000430|Nasal cartilage hypoplasia;HP:0000455|Broad nasal tip;HP:0000954|Simian creases;HP:0000286|Palpebronasal fold;HP:0000347|Micrognathia;HP:0000506|Telecanthus;HP:0004439|Crouzon syndrome;HP:0000486|Strabismus;HP:0000822|Hypertension;HP:0002714|Downturned corners of mouth;HP:0001903|Anemia;HP:0001249|Mental retardation;HP:0004331|Decreased skull ossification;HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0010461|Abnormality of the male genitalia;HP:0002667|Nephroblastoma;HP:0000262|Tall shaped skull;HP:0000823|Delayed puberty;HP:0000431|Broad nasal root;HP:0000337|Increased bitemporal dimension;HP:0000430|Underdeveloped nasal alae;HP:0005650|Cutaneous syndactyly between fingers 2 and 5;HP:0001249|Intellectual disability;HP:0000322|Short philtrum;HP:0000426|Prominent nasal bridge;HP:0000348|High forehead;HP:0002645|Extra bones within cranial sutures;HP:0100777|Exostoses;HP:0005338|Laterally sparse eyebrows;HP:0000494|Downward slanting palpebral fissures;HP:0000270|Late closing fontanelles;HP:0000054|Micropenis;HP:0000054|Short penis;HP:0001156|Brachydactyly;HP:0000821|Hypothyroidism;HP:0002762|Multiple exostoses
idiopathic pulmonary arterial hypertension	HP:0001635|Congestive heart failure;HP:0001962|Palpitations;HP:3000042|Abnormality of jugular vein;HP:0002094|Dyspnea;HP:0002105|Hemoptysis;HP:0010741|Edema of the lower limbs;HP:0005180|Tricuspid regurgitation;HP:0003549|Abnormality of connective tissue;HP:0004890|Elevated pulmonary artery pressure;HP:0001279|Syncope;HP:0012098|Edema of the dorsum of feet;HP:0001667|Right ventricular hypertrophy;HP:0100749|Chest pain;HP:0030148|Heart murmur;HP:0002092|Pulmonary arterial hypertension;HP:0001785|Ankle swelling;HP:0005317|Increased pulmonary vascular resistance;HP:0004870|Chronic hemolytic anemia
dent disease	HP:0003109|Hyperphosphaturia;HP:0000114|Proximal tubulopathy;HP:0002748|Rickets;HP:0000787|Nephrolithiasis;HP:0000518|Cataract;HP:0003025|Metaphyseal irregularity;HP:0002653|Bone pain;HP:0002663|Delayed epiphyseal ossification;HP:0002027|Abdominal pain;HP:0003149|Hyperuricosuria;HP:0003013|Bulging epiphyses;HP:0002979|Bowing of the legs;HP:0000093|Proteinuria;HP:0000083|Renal insufficiency;HP:0005574|Non-acidotic proximal tubulopathy;HP:0005576|Tubulointerstitial fibrosis;HP:0003236|Elevated serum creatine phosphokinase;HP:0008732|Renal hypophosphatemia;HP:0000790|Hematuria;HP:0012622|Chronic kidney disease;HP:0010580|Enlarged epiphyses;HP:0000117|Renal phosphate wasting;HP:0001256|Intellectual disability, mild;HP:0000092|Tubular atrophy;HP:0002150|Hypercalciuria;HP:0003126|Low-molecular-weight proteinuria;HP:0000121|Nephrocalcinosis;HP:0011342|Mild global developmental delay;HP:0000097|Focal segmental glomerulosclerosis;HP:0002757|Recurrent fractures;HP:0002814|Abnormality of the lower limb;HP:0003355|Aminoaciduria;HP:0003076|Glycosuria;HP:0002752|Sparse bone trabeculae;HP:0002753|Thin bony cortex;HP:0003020|Enlargement of the wrists;HP:0003152|Increased serum 1,25-dihydroxyvitamin D3;HP:0001252|Muscular hypotonia;HP:0002749|Osteomalacia;HP:0003029|Enlargement of the ankles
congenital stationary night blindness	HP:0000639|Nystagmus;HP:0001098|Abnormality of the fundus;HP:0000479|Abnormality of the retina;HP:0000486|Strabismus;HP:0007766|Optic disc hypoplasia;HP:0008002|Abnormality of macular pigmentation;HP:0011003|Severe Myopia;HP:0007663|Reduced visual acuity;HP:0000662|Nyctalopia
pemphigoid gestationis	HP:0008066|Abnormal blistering of the skin;HP:0001622|Premature birth;HP:0000989|Pruritus;HP:0001508|Failure to thrive;HP:0001511|Intrauterine growth retardation;HP:0200037|Skin vesicle
squamous cell carcinoma of esophagus	HP:0002716|Lymphadenopathy;HP:0011459|Esophageal carcinoma;HP:0001608|Abnormality of the voice;HP:0100749|Chest pain;HP:0002017|Nausea and vomiting;HP:0012735|Cough;HP:0001864|Clinodactyly of the 5th toe;HP:0008872|Feeding difficulties in infancy
intestinal lymphangiectasia	HP:0002202|Pleural effusion;HP:0001888|Lymphocytopenia;HP:0002014|Diarrhea;HP:0100326|Immunologic hypersensitivity;HP:0004313|Decreased antibody level in blood;HP:0008360|Neonatal hypoproteinemia;HP:0002024|Intestinal malabsorption;HP:0001888|Lymphopenia;HP:0200042|Skin ulcer;HP:0001541|Ascites;HP:0008066|Abnormal blistering of the skin;HP:0002024|Malabsorption;HP:0001510|Growth delay;HP:0006641|Prominent floating ribs;HP:0002593|Intestinal lymphangiectasia;HP:0002664|Neoplasm;HP:0010741|Edema of the lower limbs;HP:0002901|Hypocalcemia;HP:0010741|Peripheral edema of lower extremity;HP:0100763|Abnormality of the lymphatic system;HP:0002563|Constrictive pericarditis;HP:0004315|IgG deficiency;HP:0000505|Visual impairment;HP:0001595|Hair abnormality;HP:0001072|Thickened skin
adenocarcinoma of esophagus	HP:0002020|Gastroesophageal reflux;HP:0002716|Lymphadenopathy;HP:0011459|Esophageal carcinoma;HP:0001513|Obesity;HP:0100580|Barrett esophagus;HP:0100749|Chest pain;HP:0002017|Nausea and vomiting;HP:0012735|Cough;HP:0001864|Clinodactyly of the 5th toe;HP:0008872|Feeding difficulties in infancy
acquired epidermolysis bullosa	HP:0000987|Atypical scarring of skin;HP:0008404|Nail dystrophy;HP:0000819|Diabetes mellitus;HP:0002027|Abdominal pain;HP:0001056|Milia;HP:0000989|Pruritus;HP:0002037|Inflammation of the large intestine;HP:0000953|Hyperpigmentation of the skin;HP:0001595|Abnormality of the hair;HP:0008066|Abnormal blistering of the skin
osteopetrosis with renal tubular acidosis	HP:0001263|Global developmental delay;HP:0000670|Carious teeth;HP:0000689|Misalignment of upper and lower dental arches;HP:0002135|Basal ganglia calcification;HP:0002653|Bone pain;HP:0004437|Hyperostosis of cranial bones;HP:0005930|Abnormality of epiphysis morphology;HP:0000572|Visual loss;HP:0003034|Diaphyseal osteosclerosis;HP:0004322|Stature below 3rd percentile;HP:0001873|Thrombocytopenia;HP:0000303|Mandibular prognathia;HP:0006482|Abnormality of dental morphology;HP:0009830|Peripheral neuropathy;HP:0001433|Enlarged liver and spleen;HP:0001903|Anemia;HP:0001249|Mental retardation;HP:0003148|Elevated serum acid phosphatase;HP:0002757|Recurrent fractures;HP:0002514|Cerebral calcification;HP:0001508|Failure to thrive;HP:0011002|Osteopetrosis;HP:0000648|Optic atrophy;HP:0008341|Renal tubular acidosis, type I;HP:0002240|Hepatomegaly;HP:0002857|Genu valgum;HP:0008153|Hypokalemic periodic paresis;HP:0001249|Intellectual disability;HP:0001744|Splenomegaly;HP:0007807|Optic nerve compression;HP:0000505|Visual impairment;HP:0010885|Aseptic necrosis;HP:0004349|Reduced bone mineral density;HP:0000689|Dental malocclusion;HP:0001978|Extramedullary hematopoiesis;HP:0000091|Abnormality of the renal tubule
cinca syndrome	HP:0001025|Urticaria;HP:0001263|Global developmental delay;HP:0000520|Proptosis;HP:0001911|Abnormality of granulocytes;HP:0012378|Fatigue;HP:0000365|Hearing impairment;HP:0001287|Meningitis;HP:0001373|Joint dislocation;HP:0001156|Brachydactyly syndrome;HP:0002829|Arthralgia;HP:0002716|Lymphadenopathy;HP:0003326|Myalgia;HP:0003565|Elevated erythrocyte sedimentation rate;HP:0000618|Blindness;HP:0002007|Frontal bossing;HP:0002652|Skeletal dysplasia;HP:0100533|Inflammatory abnormality of the eye;HP:0001874|Abnormality of neutrophils;HP:0002516|Increased intracranial pressure;HP:0002017|Nausea and vomiting;HP:0000979|Purpura;HP:0000407|Sensorineural hearing impairment;HP:0000538|Pseudopapilledema;HP:0001903|Anemia;HP:0001510|Growth delay;HP:0002353|EEG abnormality;HP:0000554|Uveitis;HP:0000256|Macrocephaly;HP:0100654|Retrobulbar optic neuritis;HP:0001367|Abnormal joint morphology;HP:0001622|Premature birth;HP:0001945|Fever;HP:0002240|Hepatomegaly;HP:0002076|Migraine;HP:0001476|Delayed closure of the anterior fontanelle;HP:0001249|Intellectual disability;HP:0001744|Splenomegaly;HP:0001974|Leukocytosis;HP:0000505|Visual impairment;HP:0001872|Abnormality of thrombocytes;HP:0011227|Elevated C-reactive protein level;HP:0004349|Reduced bone mineral density;HP:0200034|Papule;HP:0000969|Edema
harlequin ichthyosis	HP:0000962|Hyperkeratosis;HP:0100716|Self-injurious behavior;HP:0007431|Congenital ichthyosiform erythroderma;HP:0000457|Depressed nasal ridge;HP:0000656|Ectropion;HP:0000518|Cataract;HP:0001645|Sudden cardiac death;HP:0002093|Respiratory insufficiency;HP:0000364|Hearing abnormality;HP:0001019|Erythroderma;HP:0012472|Eclabion;HP:0001161|Hand polydactyly;HP:0001944|Dehydration;HP:0001829|Foot polydactyly;HP:0001376|Limitation of joint mobility;HP:0008064|Ichthyosis;HP:0002047|Malignant hyperthermia;HP:0002205|Recurrent respiratory infections
lichen amyloidosis	HP:0011034|Amyloid disease;HP:0000973|Dermatomegaly;HP:0001291|Cranial nerve disease;HP:0001149|Lattice corneal dystrophy;HP:0000989|Pruritus;HP:0200034|Papule;HP:0000989|pruritis
anti-glomerular basement membrane disease	HP:0002094|Dyspnea;HP:0000541|Retinal detachment;HP:0002960|Autoimmunity;HP:0000093|Proteinuria;HP:0000083|Renal insufficiency;HP:0002829|Arthralgia;HP:0100820|Glomerulopathy;HP:0003326|Myalgia;HP:0002960|Autoimmune condition;HP:0002113|Pulmonary infiltrates;HP:0000979|Purpura;HP:0000790|Hematuria;HP:0002105|Hemoptysis;HP:0001903|Anemia;HP:0000099|Glomerular nephritis;HP:0006335|Persistence of primary teeth;HP:0002633|Vasculitis;HP:0002093|Respiratory insufficiency;HP:0001945|Fever;HP:0012735|Cough;HP:0001369|Arthritis;HP:0100749|Chest pain
wernicke-korsakoff syndrome	HP:0000666|Horizontal nystagmus;HP:0001251|Ataxia;HP:0001271|Polyneuropathy;HP:0001289|Confusion;HP:0001259|Coma;HP:0000709|Psychosis;HP:0000508|Drooping upper eyelid;HP:0002354|Memory loss;HP:0000602|Ophthalmoplegia
juvenile absence epilepsy	HP:0002121|Petit mal seizures;HP:0002392|EEG with polyspike wave complexes;HP:0000153|Abnormality of the mouth;HP:0002123|Myoclonus seizures;HP:0000496|Abnormality of eye movement;HP:0010849|EEG with spike-wave complexes (>3.5 Hz);HP:0001336|Myoclonus;HP:0002373|Febrile seizures;HP:0002121|Absence seizures;HP:0002069|Generalized tonic-clonic seizures;HP:0007193|Morning generalized tonic-clonic seizures;HP:0002197|Generalized seizures
alpha-heavy chain disease	HP:0002716|Lymphadenopathy;HP:0001744|Splenomegaly;HP:0001596|Alopecia;HP:0002665|Lymphoma;HP:0002721|Immunodeficiency;HP:0002901|Hypocalcemia;HP:0002027|Abdominal pain;HP:0100805|Precocious menopause;HP:0001945|Fever;HP:0002244|Abnormality of the small intestine;HP:0002240|Hepatomegaly;HP:0001541|Ascites;HP:0001903|Anemia;HP:0002024|Malabsorption;HP:0001510|Growth delay;HP:0002961|Dysgammaglobulinemia
sebocystomatosis	HP:0012035|Steatocystoma multiplex;HP:0009720|Adenoma sebaceum;HP:0000787|Nephrolithiasis
hereditary chronic pancreatitis	HP:0001738|Exocrine pancreatic insufficiency;HP:0002570|Steatorrhea;HP:0001974|Leukocytosis;HP:0005206|Pancreatic pseudocyst;HP:0002202|Pleural effusion;HP:0012379|Abnormal enzyme/coenzyme activity;HP:0001977|Abnormal thrombosis;HP:0005213|Pancreatic calcification;HP:0001733|Pancreatic inflammation;HP:0005213|Pancreatic calcifications;HP:0100027|Recurrent pancreatitis;HP:0000819|Diabetes mellitus;HP:0002027|Abdominal pain;HP:0011227|Elevated C-reactive protein level;HP:0001945|Fever;HP:0030247|Splanchnic vein thrombosis;HP:0000952|Jaundice
acute monoblastic leukemia	HP:0004845|Acute monoblastic leukemia
imperforate anus	HP:0000365|Hearing impairment;HP:0000047|Hypospadias;HP:0002023|Anal atresia;HP:0004397|Abnormal anus position
squamous cell carcinoma of head and neck	HP:0002860|Squamous cell carcinoma
schilder disease	HP:0100704|Cortical visual impairment;HP:0006918|Diffuse cerebral sclerosis
ceroid storage disease	HP:0001399|Liver failure;HP:0001743|Abnormality of the spleen
hyperlipoproteinemia type iv	HP:0002155|Increased triglycerides;HP:0004416|Precocious atherosclerosis;HP:0003362|Increased circulating very-low-density lipoprotein cholesterol;HP:0001952|Abnormal glucose tolerance;HP:0001039|Atheroeruptive xanthoma
autosomal dominant hyper-ige syndrome	HP:0200037|Skin vesicle;HP:0003212|Increased IgE level;HP:0002205|Recurrent respiratory infections;HP:0000490|Deeply set eye;HP:0005692|Joint hyperflexibility;HP:0000164|Abnormality of the teeth;HP:0000684|Delayed eruption of teeth;HP:0011354|Generalized abnormality of skin;HP:0200042|Skin ulcer;HP:0002617|Aneurysm;HP:0002719|Recurrent infections;HP:0000271|Abnormality of the face;HP:0002754|Osteomyelitis;HP:0000175|Cleft palate;HP:0000230|Gingivitis;HP:0002665|Lymphoma;HP:0100750|Atelectasis;HP:0002650|Scoliosis;HP:0002757|Recurrent fractures;HP:0000938|Osteopenia;HP:0000389|Chronic otitis media;HP:0001945|Fever;HP:0000431|Wide nasal bridge;HP:0001595|Abnormality of the hair;HP:0012735|Cough;HP:0000988|Skin rash;HP:0008391|Dystrophic fingernails;HP:0001363|Craniosynostosis;HP:0100658|Cellulitis;HP:0001818|Paronychia;HP:0000989|Pruritus;HP:0000964|Eczema;HP:0011220|Prominent forehead;HP:0200034|Papule;HP:0001880|Eosinophilia
acro-renal-ocular syndrome	HP:0000639|Nystagmus;HP:0004059|Radial club hand;HP:0000588|Optic nerve coloboma;HP:0000568|Microphthalmia;HP:0000518|Cataract;HP:0002818|Abnormality of the radius;HP:0001770|Toe syndactyly;HP:0012745|Short palpebral fissure;HP:0002251|Aganglionic megacolon;HP:0008897|Postnatal growth retardation;HP:0009650|Short distal phalanx of the thumb;HP:0000508|Ptosis;HP:0008678|Renal hypoplasia/aplasia;HP:0006101|Finger syndactyly;HP:0010109|Short hallux;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0001172|Abnormality of the thumb;HP:0001852|Sandal gap;HP:0001636|Tetralogy of Fallot;HP:0000015|Bladder diverticulum;HP:0004736|Crossed fused renal ectopia;HP:0000407|Sensorineural hearing impairment;HP:0000076|Vesicoureteral reflux;HP:0000612|Iris coloboma;HP:0009778|Short thumb;HP:0003022|Hypoplasia of the ulna;HP:0004712|Renal malrotation;HP:0000286|Epicanthus;HP:0001177|Preaxial hand polydactyly;HP:0000589|Coloboma;HP:0005792|Short humerus;HP:0010059|Broad hallux phalanx;HP:0000405|Conductive hearing impairment;HP:0000085|Horseshoe kidney;HP:0001883|Talipes;HP:0000567|Chorioretinal coloboma;HP:0006501|Aplasia/Hypoplasia of the radius;HP:0003422|Vertebral segmentation defect;HP:0000505|Visual impairment;HP:0001199|Triphalangeal thumb;HP:0002948|Vertebral fusion;HP:0007766|Optic disc hypoplasia;HP:0000482|Microcornea
angioma serpiginosum	HP:0010783|Erythema;HP:0002213|Thin hair shaft;HP:0000962|Hyperkeratosis;HP:0008070|Thinned hair;HP:0012733|Macule;HP:0011276|Vascular skin abnormality;HP:0008404|Dystrophic nails;HP:0007797|Retinal vascular malformation
hawkinsinuria	HP:0003161|4-Hydroxyphenylpyruvic aciduria;HP:0001942|Metabolic acidosis;HP:0002213|Fine hair;HP:0001508|Weight faltering;HP:0008070|Sparse hair;HP:0001508|Failure to thrive;HP:0001252|Muscular hypotonia;HP:0010917|Abnormality of tyrosine metabolism;HP:0003231|Increased tyrosine in blood;HP:0003607|4-Hydroxyphenylacetic aciduria;HP:0000821|Hypothyroidism
idiopathic juvenile osteoporosis	HP:0012052|Low serum calcitriol;HP:0001288|Gait disturbance;HP:0002653|Bone pain;HP:0002757|Recurrent fractures;HP:0000939|Osteoporosis;HP:0002953|Vertebral compression fractures;HP:0002808|Kyphosis
lipedema	HP:0010741|Edema of the lower limbs;HP:0009125|Lipodystrophy
eosinophilic fasciitis	HP:0002829|Arthralgia;HP:0003401|Paresthesia;HP:0012733|Macule;HP:0003326|Myalgia;HP:0045029|Eosinophilic fasciitis;HP:0100658|Cellulitis;HP:0001369|Arthritis;HP:0012378|Fatigue;HP:0100537|Fasciitis;HP:0001482|Subcutaneous nodule;HP:0001824|Weight loss;HP:0001063|Acrocyanosis;HP:0100748|Muscular edema;HP:0001879|Abnormality of eosinophils;HP:0100614|Myositis;HP:0001880|Eosinophilia;HP:0000969|Edema
kennedy disease	HP:0005978|Type II diabetes mellitus;HP:0001618|Dysphonia;HP:0000771|Gynecomastia;HP:0001288|Gait disturbance;HP:0000029|Testicular atrophy;HP:0100639|Erectile abnormalities;HP:0003119|Abnormality of lipid metabolism;HP:0100022|Abnormality of movement;HP:0001265|Hyporeflexia;HP:0001252|Muscular hypotonia;HP:0000144|Decreased fertility;HP:0001260|Dysarthria;HP:0003202|Skeletal muscle atrophy
keutel syndrome	HP:0001263|Global developmental delay;HP:0011800|Midface retrusion;HP:0004322|Short stature;HP:0001629|Ventricular septal defect;HP:0100682|Tracheal atresia;HP:0000365|Hearing impairment;HP:0011108|Recurrent sinusitis;HP:0005280|Depressed nasal bridge;HP:0000445|Wide nose;HP:0002205|Recurrent respiratory infections;HP:0001027|Soft, doughy skin;HP:0100593|Calcification of cartilage;HP:0000276|Long face;HP:0001256|Intellectual disability, mild;HP:0001250|Seizures;HP:0000403|Recurrent otitis media;HP:0004415|Pulmonary artery stenosis;HP:0000648|Optic atrophy;HP:0000430|Underdeveloped nasal alae;HP:0001596|Alopecia;HP:0004334|Dermal atrophy;HP:0002092|Pulmonary arterial hypertension;HP:0009882|Short distal phalanx of finger;HP:0000340|Sloping forehead
dysosteosclerosis	HP:0000639|Nystagmus;HP:0000938|Decreased bone mineral density;HP:0000311|Round facial shape;HP:0000677|Failure of development of more than six teeth;HP:0004334|Atrophic skin;HP:0006429|Broadening of femoral neck;HP:0000682|Abnormality of dental enamel;HP:0004322|Short stature;HP:0000347|Hypoplasia of mandible;HP:0000242|Bossing of parietal bone;HP:0003498|Disproportionate short stature;HP:0000365|Hearing impairment;HP:0001629|Ventricular septal defect;HP:0002376|Loss of developmental milestones;HP:0005019|Diaphyseal thickening;HP:0002376|Developmental regression;HP:0002868|Narrow iliac wings;HP:0001474|Sclerotic scapulae;HP:0002870|Obstructive sleep apnea;HP:0000648|Optic-nerve degeneration;HP:0003301|Irregular vertebral endplates;HP:0008479|Hypoplastic vertebral bodies;HP:0000941|Short shaft of long bone;HP:0011349|Sixth nerve palsy;HP:0000618|Blindness;HP:0006480|Premature loss of teeth;HP:0001291|Abnormality of the cranial nerves;HP:0100923|Clavicular sclerosis;HP:0000879|Short sternum;HP:0000316|Hypertelorism;HP:0000684|Delayed eruption of teeth;HP:0002007|Frontal protruberance;HP:0002689|Absence of paranasal sinuses;HP:0000695|Natal teeth;HP:0003015|Metaphyseal splaying;HP:0001249|Mental retardation;HP:0030320|Increased intervertebral space;HP:0001250|Seizures;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0002694|Sclerosis of skull base;HP:0001476|Late closure of the bregma sutures;HP:0007209|Facial paresis;HP:0008479|Small vertebrae;HP:0000256|Macrocephaly;HP:0000773|Rib hypoplasia;HP:0002688|Absent frontal sinuses;HP:0000218|Increased palatal height;HP:0002757|Recurrent fractures;HP:0000885|Wide ribs;HP:0000774|Low chest circumference;HP:0002514|Cerebral calcification;HP:0006383|Progressive bowing of long bones;HP:0004493|Craniofacial hyperostosis;HP:0000648|Optic atrophy;HP:0000926|Platyspondyly;HP:0003301|vertebral endplate irregularity;HP:0000926|Flattened vertebral bodies;HP:0001249|Intellectual disability;HP:0011001|Increased bone mineral density;HP:0005089|Abnormal metaphyseal trabeculation;HP:0004054|Generalized sclerosis of hand bones;HP:0002659|Increased tendency to fractures;HP:0011220|Prominent forehead;HP:0100670|Rough bone trabeculation;HP:0000944|Abnormality of the metaphyses
desmosterolosis	HP:0000639|Nystagmus;HP:0005789|Generalized osteosclerosis;HP:0008905|Rhizomelic short limbs;HP:0000033|Ambiguous genitalia, male;HP:0001339|Lissencephaly;HP:0001257|Spasticity;HP:0000347|Micrognathia;HP:0002536|Abnormal cortical gyration;HP:0004482|Macrocephaly, relative;HP:0000193|Bifid uvula;HP:0009748|Large earlobe;HP:0001302|Pachygyria;HP:0001338|Partial agenesis of the corpus callosum;HP:0000175|Cleft palate;HP:0009473|Joint contracture of the hand;HP:0000256|Macrocephaly;HP:0007370|Absent/hypoplastic corpus callosum;HP:0011001|Increased bone mineral density;HP:0000252|Microcephaly;HP:0002063|Rigidity;HP:0001508|Failure to thrive;HP:0000169|Gingival fibrous nodules;HP:0001744|Splenomegaly;HP:0001883|Talipes;HP:0002566|Intestinal malrotation;HP:0002133|Status epilepticus;HP:0000347|Hypoplasia of mandible;HP:0001331|Absent septum pellucidum;HP:0000463|Nostrils anteverted;HP:0002007|Frontal bossing;HP:0002007|Frontal protruberance;HP:0000175|Palatoschisis;HP:0002804|Arthrogryposis multiplex congenita;HP:0001276|Hypertonia;HP:0000286|Epicanthus;HP:0001263|Developmental retardation;HP:0009085|Alveolar ridge excess;HP:0001249|Intellectual disability;HP:0000238|Nonsyndromal hydrocephalus;HP:0000368|Low-set, posteriorly rotated ears;HP:0000238|Hydrocephalus;HP:0002983|Micromelia;HP:0003107|Abnormality of cholesterol metabolism;HP:0000160|Narrow mouth;HP:0000363|Abnormality of earlobe;HP:0003196|Short nose;HP:0002119|Ventriculomegaly;HP:0005280|Depressed nasal bridge;HP:0008678|Renal hypoplasia/aplasia;HP:0000369|Low-set ears;HP:0010772|Anomalous pulmonary venous return;HP:0005281|Hypoplastic nasal bridge;HP:0001643|Patent ductus arteriosus;HP:0000494|Downslanted palpebral fissures;HP:0001250|Seizures;HP:0001643|Persistent ductus arteriosus;HP:0000061|Ambiguous genitalia, female;HP:0001508|Weight faltering;HP:0000278|Retrognathia;HP:0005160|Total anomalous pulmonary venous return;HP:0002126|Polymicrogyria;HP:0000378|Cupped ear;HP:0011220|Prominent forehead;HP:0000176|Submucous cleft hard palate;HP:0002119|Ventricular dilatation;HP:0001274|Agenesis of corpus callosum;HP:0000486|Squint eyes;HP:0007227|Macrogyria;HP:0003552|Muscle stiffness;HP:0000256|Macrocrania;HP:0001776|Bilateral talipes equinovarus;HP:0000366|Abnormality of the nose;HP:0002269|Abnormality of neuronal migration;HP:0000286|Palpebronasal fold;HP:0000486|Strabismus;HP:0000104|Renal agenesis;HP:0001511|Intrauterine growth retardation;HP:0000062|Ambiguous genitalia;HP:0000358|Ear, posterior angulation, increased;HP:0011968|Feeding difficulties;HP:0001510|Growth delay;HP:0000252|Small head circumference;HP:0011002|Osteopetrosis;HP:0003510|Severe short stature;HP:0004334|Dermal atrophy;HP:0001840|Metatarsus adductus;HP:0000494|Downward slanting palpebral fissures;HP:0008065|Aplasia/Hypoplasia of the skin
stiff skin syndrome	HP:0011800|Midface retrusion;HP:0000787|Nephrolithiasis;HP:0004322|Short stature;HP:0000541|Retinal detachment;HP:0001482|Subcutaneous nodule;HP:0001376|Limitation of joint mobility;HP:0004322|Stature below 3rd percentile;HP:0003011|Abnormality of the musculature;HP:0003119|Abnormality of lipid metabolism;HP:0000486|Strabismus;HP:0009830|Peripheral neuropathy;HP:0000822|Hypertension;HP:0009830|Peripheral neuritis;HP:0100578|Lipoatrophy;HP:0009125|Lipodystrophy;HP:0000407|Sensorineural hearing impairment;HP:0005978|Type II diabetes mellitus;HP:0030053|Stiff skin;HP:0001324|Muscular weakness;HP:0001376|Decreased joint mobility;HP:0001371|Flexion contractures of joints;HP:0001324|Muscle weakness;HP:0100679|Lack of skin elasticity;HP:0001072|Thickened skin;HP:0007328|Impaired pain sensation;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0000501|Glaucoma
wound botulism	HP:0002094|Dyspnea;HP:0011499|Mydriasis;HP:0001324|Muscle weakness;HP:0000016|Urinary retention;HP:0002015|Dysphagia;HP:0100021|Cerebral palsy;HP:0001695|Cardiac arrest;HP:0002019|Constipation;HP:0002747|Respiratory insufficiency due to muscle weakness;HP:0006597|Diaphragmatic paralysis;HP:0001945|Fever;HP:0006824|Cranial nerve paralysis;HP:0000651|Diplopia;HP:0000508|Ptosis;HP:0001260|Dysarthria
aromatase deficiency	HP:0000028|Cryptorchidism;HP:0002050|Macroorchidism, postpubertal;HP:0000786|Primary amenorrhea;HP:0000815|Hypergonadotropic hypogonadism;HP:0002653|Bone pain;HP:0002663|Delayed epiphyseal ossification;HP:0008222|Female infertility;HP:0008072|Maternal virilization in pregnancy;HP:0000098|Tall stature;HP:0000855|Insulin resistance;HP:0001510|Growth delay;HP:0005978|Type II diabetes mellitus;HP:0000938|Osteopenia;HP:0003077|Hyperlipidemia;HP:0000939|Osteoporosis;HP:0000061|Ambiguous genitalia, female;HP:0003251|Male infertility;HP:0002230|Generalized hirsutism;HP:0001397|Hepatic steatosis;HP:0002857|Genu valgum;HP:0008675|Enlarged polycystic ovaries;HP:0003782|Eunuchoid habitus;HP:0010458|Female pseudohermaphroditism;HP:0001513|Obesity;HP:0002750|Delayed skeletal maturation;HP:0000956|Acanthosis nigricans
c syndrome	HP:0000028|Cryptorchidism;HP:0000470|Short neck;HP:0010978|Abnormality of immune system physiology;HP:0003196|Short nose;HP:0004322|Short stature;HP:0010720|Abnormal hair pattern;HP:0004378|Abnormality of the anus;HP:0002019|Constipation;HP:0001770|Toe syndactyly;HP:0000218|High palate;HP:0000243|Trigonocephaly;HP:0000233|Thin vermilion border;HP:0001373|Joint dislocation;HP:0000767|Pectus excavatum;HP:0001376|Limitation of joint mobility;HP:0005280|Depressed nasal bridge;HP:0008678|Renal hypoplasia/aplasia;HP:0000582|Upslanted palpebral fissure;HP:0000347|Micrognathia;HP:0007598|Bilateral single transverse palmar creases;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0002564|Malformation of the heart and great vessels;HP:0000486|Strabismus;HP:0000343|Long philtrum;HP:0001531|Failure to thrive in infancy;HP:0000960|Sacral dimple;HP:0001522|Death in infancy;HP:0001561|Polyhydramnios;HP:0003083|Dislocated radial head;HP:0010318|Aplasia/Hypoplasia of the abdominal wall musculature;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0000003|Multicystic kidney dysplasia;HP:0000252|Microcephaly;HP:0000319|Smooth philtrum;HP:0001539|Omphalocele;HP:0000191|Accessory oral frenulum;HP:0100720|Hypoplasia of the ear cartilage;HP:0004209|Clinodactyly of the 5th finger;HP:0000085|Horseshoe kidney;HP:0001249|Intellectual disability;HP:0001883|Talipes;HP:0010458|Female pseudohermaphroditism;HP:0001582|Redundant skin;HP:0000463|Anteverted nares;HP:0004422|Biparietal narrowing;HP:0000368|Low-set, posteriorly rotated ears;HP:0007601|Midline facial capillary hemangioma;HP:0001161|Hand polydactyly;HP:0000212|Gingival overgrowth;HP:0001252|Muscular hypotonia;HP:0002983|Micromelia;HP:0000776|Congenital diaphragmatic hernia
pemphigus vulgaris	HP:0000987|Atypical scarring of skin;HP:0001025|Urticaria;HP:0100792|Acantholysis;HP:0008066|Abnormal blistering of the skin;HP:0000163|Abnormality of the oral cavity;HP:0100838|Recurrent cutaneous abscess formation;HP:0002960|Autoimmunity;HP:0001824|Weight loss;HP:0002719|Recurrent infections;HP:0008872|Feeding difficulties in infancy
rabies	HP:0001250|Seizures;HP:0003401|Paresthesia;HP:0000708|Behavioral abnormality;HP:0001645|Sudden cardiac death;HP:0003781|Excessive salivation;HP:0002014|Diarrhea;HP:0100021|Cerebral palsy;HP:0001604|Vocal cord paresis;HP:0000738|Hallucinations;HP:0000716|Depression;HP:0002017|Nausea and vomiting;HP:0100785|Insomnia;HP:0001945|Fever;HP:0004372|Reduced consciousness/confusion;HP:0007018|Attention deficit hyperactivity disorder;HP:0002039|Anorexia;HP:0100776|Recurrent pharyngitis;HP:0002076|Migraine;HP:0000739|Anxiety
melnick-needles syndrome	HP:0000894|Short clavicles;HP:0000767|Funnel chest;HP:0000486|Squint eyes;HP:0001704|Tricuspid valve prolapse;HP:0010230|Cone-shaped epiphyses of the phalanges of the hand;HP:0000347|Hypoplasia of mandible;HP:0000336|Prominent supraorbital ridges;HP:0000316|Increased distance between eye sockets;HP:0002205|Frequent respiratory infections;HP:0005446|High mandibular plane angle;HP:0009882|Hypoplastic terminal phalanges;HP:0000472|Increased cervical length;HP:0009771|Acro-osteolysis;HP:0000126|Hydronephrosis;HP:0002092|Pulmonary artery hypertension;HP:0001762|Talipes equinovarus;HP:0000684|Delayed eruption of teeth;HP:0000071|Narrowing of the ureter;HP:0000175|Palatoschisis;HP:0003015|Metaphyseal splaying;HP:0001377|Restricted elbow extension;HP:0001270|Motor retardation;HP:0011335|Frontal hirsutism;HP:0002982|Bowed tibia;HP:0002751|Kyphoscoliosis;HP:0001288|Gait disturbance;HP:0000400|Large ears;HP:0000403|Otitis media, recurrent;HP:0001609|Hoarseness;HP:0000774|Low chest circumference;HP:0001508|Weight faltering;HP:0001539|Omphalocele;HP:0000882|Hypoplastic scapula;HP:0002857|Genu valgum;HP:0000692|Malpositioned teeth;HP:0000520|Anterior bulging of the globe of eye;HP:0002208|Coarse hair texture;HP:0001634|Mitral valve prolapse;HP:0002827|Hip dislocation;HP:0001763|Pes planus;HP:0005792|Short upper arms;HP:0000270|Late closing fontanelles;HP:0000274|Hypoplasia of face;HP:0004611|Anteriorly concave vertebrae;HP:0002673|Coxa valga
hypotrichosis simplex	HP:0001596|Alopecia;HP:0000535|Sparse eyebrow;HP:0002231|Sparse body hair;HP:0008070|Sparse hair;HP:0000653|Sparse eyelashes;HP:0004782|Hypotrichosis of the scalp
syringocystadenoma papilliferum	HP:0200034|Papule;HP:0001482|Subcutaneous nodule;HP:0008066|Abnormal blistering of the skin;HP:0002209|Sparse scalp hair;HP:0010815|Nevus sebaceous
cystathioninuria	HP:0003153|High urine cystathionine levels
frontometaphyseal dysplasia	HP:0000689|Misalignment of upper and lower dental arches;HP:0006487|Bowing of the long bones;HP:0002777|Tracheal stenosis;HP:0006335|Delayed loss of primary teeth;HP:0009768|Widening of phalanges of the hand;HP:0004608|Anteriorly placed odontoid process;HP:0000071|Ureteral stenosis;HP:0000336|Prominent supraorbital ridges;HP:0001166|Long, slender fingers;HP:0000316|Increased distance between eye sockets;HP:0000218|High palate;HP:0009650|Short distal phalanx of the thumb;HP:0006466|Ankle contracture;HP:0000347|Micrognathia;HP:0001239|Wrist flexion deformity;HP:0008661|Urethral stenosis;HP:0000126|Hydronephrosis;HP:0008451|Posterior vertebral hypoplasia;HP:0006482|Abnormality of dental morphology;HP:0005453|Absent/hypoplastic paranasal sinuses;HP:0000316|Hypertelorism;HP:0002949|Fused cervical vertebrae;HP:0000684|Delayed eruption of teeth;HP:0006155|Long finger bone;HP:0006380|Contractures of knees;HP:0009465|Ulnar deviation of finger;HP:0003779|Antegonial notching of mandible;HP:0000407|Sensorineural hearing impairment;HP:0009804|Reduced number of teeth;HP:0010493|Long metacarpals;HP:0001249|Mental retardation;HP:0009004|Hypoplasia of the musculature;HP:0000494|Downslanted palpebral fissures;HP:0008097|Partial fusion of tarsals;HP:0000307|Small pointed chin;HP:0003312|Abnormal form of the vertebral bodies;HP:0010307|Stridor;HP:0000218|Increased palatal height;HP:0003202|Neurogenic muscle atrophy, especially in the lower limbs;HP:0002650|Scoliosis;HP:0003042|Elbow dislocation;HP:0000940|Abnormal diaphysis morphology;HP:0004493|Craniofacial hyperostosis;HP:0006665|Coat hanger sign of ribs;HP:0002857|Genu valgum;HP:0000431|Broad nasal root;HP:0000331|Decreased height of chin;HP:0006207|Partial fusion of carpals;HP:0000405|Conductive hearing impairment;HP:0005616|Accelerated skeletal maturation;HP:0002987|Elbow contracture;HP:0001592|Selective tooth agenesis;HP:0010103|Short distal phalanx of hallux;HP:0001363|Craniosynostosis;HP:0002700|Big foramen magnum;HP:0001634|Mitral valve prolapse;HP:0001833|large feet;HP:0005048|Synostosis of carpal bones;HP:0001387|Joint stiffness;HP:0006160|Irregular metacarpals;HP:0000072|Megaureter;HP:0001007|Hirsutism;HP:0100490|Camptodactyly of finger;HP:0000407|sensorineural hearing loss;HP:0000280|Coarse facial features;HP:0001648|Cor pulmonale;HP:0000494|Downward slanting palpebral fissures;HP:0001607|Subglottic stenosis;HP:0003691|Scapula alata;HP:0006695|Atrioventricular canal defect;HP:0100807|Long fingers;HP:0000944|Abnormality of the metaphyses;HP:0002673|Coxa valga;HP:0006440|Increased density of long bone diaphyses
senior-loken syndrome	HP:0001263|Global developmental delay;HP:0003774|End-stage renal failure;HP:0000518|Cataract;HP:0004322|Short stature;HP:0000547|Tapetoretinal degeneration;HP:0001251|Ataxia;HP:0003774|Stage 5 chronic kidney disease;HP:0000822|Hypertension;HP:0012622|Chronic kidney disease;HP:0001903|Anemia;HP:0004348|Abnormality of bone mineral density;HP:0002612|Congenital hepatic fibrosis;HP:0000103|Polyuria;HP:0008209|Premature ovarian failure;HP:0000529|Progressive visual loss;HP:0007703|Abnormality of retinal pigmentation;HP:0001959|Polydipsia;HP:0000556|Retinal dystrophy;HP:0000505|Visual impairment;HP:0000090|juvenile nephronophthisis;HP:0000090|Nephronophthisis;HP:0010579|Cone-shaped epiphysis
arachnoiditis	HP:0002829|Arthralgia;HP:0003401|Paresthesia;HP:0000970|Anhidrosis;HP:0000504|Abnormality of vision;HP:0000763|Sensory neuropathy;HP:0002076|Migraine;HP:0001324|Muscle weakness;HP:0012378|Fatigue;HP:0002839|Urinary bladder sphincter dysfunction;HP:0000365|Hearing impairment;HP:0001265|Hyporeflexia;HP:0001287|Meningitis;HP:0000238|Hydrocephalus;HP:0000360|Tinnitus;HP:0000478|Abnormality of the eye
beta-mannosidosis	HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0001999|Facial dysmorphism;HP:0000503|Tortuosity of conjunctival vessels;HP:0007108|Demyelinating peripheral neuropathy;HP:0002167|Speech disorder;HP:0001939|Laboratory abnormality;HP:0002205|Recurrent respiratory infections;HP:0000365|Hearing impairment;HP:0002719|infections, recurrent;HP:0001249|Intellectual disability;HP:0001014|Angiokeratoma;HP:0012066|Increased urinary disaccharide excretion;HP:0001999|Abnormal facial shape;HP:0005247|Hypoplasia of the abdominal wall musculature;HP:0001249|Mental retardation;HP:0000752|Hyperactive behavior;HP:0000718|Aggressive behaviour
neuroferritinopathy	HP:0000708|Behavioral abnormality;HP:0001257|Spasticity;HP:0001618|Dysphonia;HP:0002067|Bradykinesia;HP:0001251|Ataxia;HP:0001288|Gait disturbance;HP:0000496|Abnormality of eye movement;HP:0002015|Dysphagia;HP:0002019|Constipation;HP:0002615|Hypotension;HP:0000726|Dementia;HP:0001332|Dystonia;HP:0001264|Spastic diplegia;HP:0001300|Parkinsonism;HP:0000648|Optic atrophy;HP:0000546|Retinal degeneration;HP:0002072|Chorea;HP:0002310|Orofacial dyskinesia;HP:0002376|Developmental regression;HP:0002463|Language impairment;HP:0001249|Intellectual disability
mixed connective tissue disease	HP:0002239|Gastrointestinal hemorrhage;HP:0002094|Dyspnea;HP:0012378|Fatigue;HP:0002960|Autoimmunity;HP:0001287|Meningitis;HP:0000217|Xerostomia;HP:0002797|Osteolysis;HP:0002829|Arthralgia;HP:0002102|Pleuritis;HP:0002716|Lymphadenopathy;HP:0003326|Myalgia;HP:0003565|Elevated erythrocyte sedimentation rate;HP:0005263|Gastritis;HP:0001882|Leukopenia;HP:0100721|Mediastinal lymphadenopathy;HP:0003010|Prolonged bleeding time;HP:0002206|Pulmonary fibrosis;HP:0009830|Peripheral neuropathy;HP:0000112|Nephropathy;HP:0000979|Purpura;HP:0001878|Hemolytic anemia;HP:0002020|Gastroesophageal reflux;HP:0001250|Seizures;HP:0001386|Joint swelling;HP:0000709|Psychosis;HP:0001945|Fever;HP:0100324|Scleroderma;HP:0012819|Myocarditis;HP:0002240|Hepatomegaly;HP:0001701|Pericarditis;HP:0100614|Myositis;HP:0000988|Skin rash;HP:0001744|Splenomegaly;HP:0001097|Keratoconjunctivitis sicca;HP:0001596|Alopecia;HP:0001369|Arthritis;HP:0001387|Joint stiffness;HP:0006530|Interstitial pulmonary disease;HP:0100749|Chest pain;HP:0010885|Aseptic necrosis;HP:0002092|Pulmonary arterial hypertension
benign essential blepharospasm	HP:0000643|Spontaneous closure of eyelid
char syndrome	HP:0001263|Global developmental delay;HP:0000486|Squint eyes;HP:0002553|Highly arched eyebrow;HP:0001629|Ventricular septal defect;HP:0000545|Myopia;HP:0000365|Hearing impairment;HP:0000207|Triangular mouth;HP:0001770|Toe syndactyly;HP:0000316|Increased distance between eye sockets;HP:0006159|Mesoaxial hand polydactyly;HP:0005280|Depressed nasal bridge;HP:0004218|Symphalangism of the 5th finger;HP:0000232|Everted lower lip vermilion;HP:0000508|Ptosis;HP:0004209|Clinodactyly of fifth digit;HP:0000369|Low-set ears;HP:0002558|Supernumerary nipple;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0001643|Patent ductus arteriosus;HP:0000574|Thick eyebrow;HP:0012471|Thick vermilion border;HP:0000494|Downslanted palpebral fissures;HP:0006335|Persistence of primary teeth;HP:0000457|Depressed nasal ridge;HP:0001643|Persistent ductus arteriosus;HP:0000411|Prominent ears;HP:0000455|Increased breadth of tip of nose;HP:0000272|Malar flattening;HP:0000337|Increased bitemporal dimension;HP:0004209|Clinodactyly of the 5th finger;HP:0004220|Short middle phalanx of the 5th finger;HP:0002360|Sleep disturbance;HP:0000322|Short philtrum;HP:0008498|No permanent dentition;HP:0000269|Prominent occiput;HP:0010112|Mesoaxial foot polydactyly;HP:0001161|Hand polydactyly;HP:0001256|Mild mental retardation;HP:0000508|Drooping upper eyelid;HP:0009244|Distal/middle symphalangism of 5th finger
brachyolmia	HP:0003502|Mild short stature;HP:0010306|Short thorax
dextrocardia	HP:0001263|Global developmental delay;HP:0002245|Meckel diverticulum;HP:0001651|Dextrocardia;HP:0011620|Abnormality of abdominal situs;HP:0012243|Abnormal genital system morphology;HP:0001696|Situs inversus totalis;HP:0004414|Abnormality of the pulmonary artery;HP:0001374|Congenital hip dislocation;HP:0001627|Abnormal heart morphology;HP:0002101|Abnormal lung lobation;HP:0003115|Abnormal EKG;HP:0000465|Webbed neck;HP:0000069|Abnormality of the ureter;HP:0000772|Abnormality of the ribs;HP:0000384|Preauricular skin tag;HP:0010872|T-wave inversion;HP:0008771|Aplasia/Hypoplasia of the ear;HP:0001760|Abnormality of the foot;HP:0012210|Abnormal renal morphology;HP:0011615|Abnormality of pulmonary situs;HP:0003006|Neuroblastoma;HP:0002566|Intestinal malrotation;HP:0000238|Hydrocephalus;HP:0011603|Congenital malformation of the great arteries;HP:0001743|Abnormality of the spleen;HP:0002594|Pancreatic hypoplasia
brody myopathy	HP:0003394|Muscle cramps
aa amyloidosis	HP:0011034|Amyloidosis;HP:0002013|Vomiting;HP:0002027|Abdominal pain;HP:0000093|Proteinuria;HP:0001627|Abnormal heart morphology;HP:0002018|Nausea;HP:0001917|Renal amyloidosis;HP:0002615|Hypotension;HP:0002028|Chronic diarrhea;HP:0000112|Nephropathy;HP:0012622|Chronic kidney disease;HP:0002024|Malabsorption;HP:0000105|Enlarged kidney;HP:0001396|Cholestasis;HP:0004936|Venous thrombosis;HP:0000077|Abnormality of the kidney;HP:0000846|Adrenal insufficiency;HP:0002240|Hepatomegaly;HP:0001919|Acute kidney injury;HP:0004395|Malnutrition;HP:0000100|Nephrotic syndrome;HP:0011830|Abnormality of oral mucosa;HP:0000821|Hypothyroidism
stickler syndrome	HP:0004327|Abnormality of the vitreous humor;HP:0000520|Proptosis;HP:0011800|Midface retrusion;HP:0000518|Cataract;HP:0000682|Abnormality of dental enamel;HP:0003196|Short nose;HP:0002653|Bone pain;HP:0000541|Retinal detachment;HP:0000545|Myopia;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0001166|Arachnodactyly;HP:0001519|Disproportionate tall stature;HP:0001533|Slender build;HP:0005930|Abnormality of epiphysis morphology;HP:0001373|Joint dislocation;HP:0005280|Depressed nasal bridge;HP:0006288|Advanced eruption of teeth;HP:0002205|Recurrent respiratory infections;HP:0002829|Arthralgia;HP:0000347|Micrognathia;HP:0000618|Blindness;HP:0000506|Telecanthus;HP:0002652|Skeletal dysplasia;HP:0000486|Strabismus;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0000158|Macroglossia;HP:0000204|Cleft upper lip;HP:0000343|Long philtrum;HP:0009804|Reduced number of teeth;HP:0000407|Sensorineural hearing impairment;HP:0004374|Hemiplegia/hemiparesis;HP:0003202|Skeletal muscle atrophy;HP:0008872|Feeding difficulties in infancy;HP:0002020|Gastroesophageal reflux;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0003312|Abnormal form of the vertebral bodies;HP:0000457|Depressed nasal ridge;HP:0000554|Uveitis;HP:0000327|Hypoplasia of the maxilla;HP:0002650|Scoliosis;HP:0011675|Arrhythmia;HP:0000162|Glossoptosis;HP:0000389|Chronic otitis media;HP:0003179|Protrusio acetabuli;HP:0000483|Astigmatism;HP:0002758|Osteoarthritis;HP:0002808|Kyphosis;HP:0010290|Short hard palate;HP:0000272|Malar flattening;HP:0000926|Platyspondyly;HP:0002857|Genu valgum;HP:0003416|Spinal canal stenosis;HP:0004326|Cachexia;HP:0001083|Ectopia lentis;HP:0001634|Mitral valve prolapse;HP:0000505|Visual impairment;HP:0010807|Open bite;HP:0000463|Anteverted nares;HP:0002827|Hip dislocation;HP:0001252|Muscular hypotonia;HP:0004349|Reduced bone mineral density;HP:0000501|Glaucoma;HP:0000768|Pectus carinatum;HP:0000940|Abnormal diaphysis morphology
myeloperoxidase deficiency	HP:0001939|Laboratory abnormality;HP:0001871|Abnormality of blood and blood-forming tissues;HP:0002715|Abnormality of the immune system
congenital contractural arachnodactyly	HP:0005684|Distal arthrogryposis;HP:0000938|Decreased bone mineral density;HP:0009901|Crumpled ear;HP:0001181|Adducted thumbs;HP:0000347|Hypoplasia of mandible;HP:0001166|Arachnodactyly;HP:0001519|Disproportionate tall stature;HP:0000248|Brachycephaly;HP:0001840|Forefoot varus;HP:0001166|Long, slender fingers;HP:0001519|Dolichostenomelia;HP:0000218|High palate;HP:0001533|Slender build;HP:0002999|Dislocated kneecap;HP:0001083|Dislocated lenses;HP:0001629|Ventricular septal defects;HP:0002575|Tracheoesophageal fistula;HP:0008544|Abnormally folded helix;HP:0000470|Decreased cervical height;HP:0002247|Duodenal atresia;HP:0001724|Aortic dilatation;HP:0001371|Flexion contracture;HP:0003011|Abnormality of the musculature;HP:0002564|Malformation of the heart and great vessels;HP:0001762|Talipes equinovarus;HP:0008962|Hypoplastic calf muscles;HP:0006380|Contractures of knees;HP:0002007|Frontal protruberance;HP:0009465|Medially deviated fingers;HP:0001270|Motor retardation;HP:0002804|Arthrogryposis multiplex congenita;HP:0002803|Congenital contracture;HP:0002751|Kyphoscoliosis;HP:0000545|Near sightedness;HP:0001653|Mitral valve insufficiency;HP:0001643|Persistent ductus arteriosus;HP:0001647|Bicuspid aortic valve;HP:0000218|Increased palatal height;HP:0002650|Scoliosis;HP:0000268|Dolichocephaly;HP:0002616|Aortic root dilatation;HP:0002987|Elbow contracture;HP:0001634|Mitral valve prolapse;HP:0001083|Ectopia lentis;HP:0001387|Joint stiffness;HP:0003273|Flexion contracture of hips;HP:0008453|Congenital kyphoscoliosis;HP:0002566|Intestinal malrotation;HP:0100490|Camptodactyly of finger;HP:0000768|Pectus carinatum;HP:0010499|Subluxation of patella;HP:0001631|Atria septal defect
borjeson-forssman-lehmann syndrome	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0000518|Cataract;HP:0000581|Blepharophimosis;HP:0004322|Short stature;HP:0008478|Scheuermann-like vertebral changes;HP:0000336|Prominent supraorbital ridges;HP:0000490|Sunken eyes;HP:0000823|Pubertal delay;HP:0008687|Hypoplastic prostate;HP:0000365|Hearing impairment;HP:0008734|Decreased testicular size;HP:0000508|Ptosis;HP:0000135|Hypogonadism;HP:0008736|Hypoplasia of penis;HP:0002684|Thickened calvarium;HP:0000490|Deeply set eye;HP:0004322|Stature below 3rd percentile;HP:0002808|Gibbus deformity;HP:0001831|Short toes;HP:0000771|Gynaecomastia;HP:0008445|Narrow cervical spinal canal;HP:0008094|Widely spaced toes;HP:0010864|Early and severe mental retardation;HP:0005692|Joint hyperflexibility;HP:0009748|Large earlobe;HP:0009830|Peripheral neuropathy;HP:0000574|Thick eyebrow;HP:0008872|Feeding difficulties in infancy;HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0001831|Short toe;HP:0000054|Short penis;HP:0000505|Poor vision;HP:0000252|Small head circumference;HP:0000771|Gynecomastia;HP:0000256|Macrocephaly;HP:0000400|Large ears;HP:0001836|Camptodactyly of toe;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0003272|Abnormality of the hip bone;HP:0001182|Tapered finger;HP:0002353|Abnormal EEG;HP:0000046|Scrotal hypoplasia;HP:0008070|Sparse hair;HP:0001249|Intellectual disability;HP:0000202|Oral cleft;HP:0001769|Broad foot;HP:0006110|Shortened middle finger bones;HP:0001513|Obesity;HP:0001956|Truncal obesity;HP:0000280|Coarse facial features;HP:0001252|Muscular hypotonia;HP:0000508|Drooping upper eyelid;HP:0003202|Skeletal muscle atrophy;HP:0006118|Shortening of all outermost bones of the fingers
image syndrome	HP:0000028|Cryptorchidism;HP:0000047|Hypospadias;HP:0000078|Abnormality of the genital system;HP:0002007|Frontal bossing;HP:0000126|Hydronephrosis;HP:0000369|Low-set ears;HP:0005280|Depressed nasal bridge;HP:0000835|Adrenal hypoplasia;HP:0001252|Muscular hypotonia;HP:0001511|Intrauterine growth retardation;HP:0100255|Metaphyseal dysplasia;HP:0002983|Micromelia;HP:0000135|Hypogonadism
pemphigus foliaceus	HP:0010783|Erythema;HP:0100792|Acantholysis;HP:0200037|Skin vesicle;HP:0200041|Skin erosion;HP:0008066|Abnormal blistering of the skin;HP:0007473|Crusting erythematous dermatitis
yellow fever	HP:0002239|Gastrointestinal hemorrhage;HP:0002027|Abdominal pain;HP:0400008|Menometrorrhagia;HP:0001287|Meningitis;HP:0002383|Encephalitis;HP:0000093|Proteinuria;HP:0000083|Renal insufficiency;HP:0001635|Congestive heart failure;HP:0002829|Arthralgia;HP:0006554|Acute hepatic failure;HP:0003326|Myalgia;HP:0001254|Lethargy;HP:0002014|Diarrhea;HP:0100520|Oliguria;HP:0002615|Hypotension;HP:0000112|Nephropathy;HP:0002017|Nausea and vomiting;HP:0001944|Dehydration;HP:0000952|Jaundice;HP:0005268|Spontaneous abortion;HP:0011675|Arrhythmia;HP:0001945|Fever;HP:0002045|Hypothermia;HP:0000613|Photophobia;HP:0100749|Chest pain;HP:0006543|Cardiorespiratory arrest;HP:0002039|Anorexia;HP:0002315|Headache;HP:0002047|Malignant hyperthermia
muenke syndrome	HP:0002705|High, narrow palate;HP:0001263|Global developmental delay;HP:0001357|Plagiocephaly;HP:0000520|Proptosis;HP:0009702|Carpal synostosis;HP:0008368|Tarsal synostosis;HP:0000256|Macrocephaly;HP:0001053|Hypopigmented skin patches;HP:0005599|Hypopigmentation of hair;HP:0000316|Hypertelorism;HP:0001034|Hypermelanotic macule;HP:0000248|Brachycephaly;HP:0002516|Increased intracranial pressure;HP:0010579|Cone-shaped epiphysis;HP:0000272|Malar flattening;HP:0004279|Short palm;HP:0000407|Sensorineural hearing impairment;HP:0000238|Hydrocephalus;HP:0004440|Coronal craniosynostosis;HP:0000508|Ptosis;HP:0001773|Short foot
chronic recurrent multifocal osteomyelitis	HP:0001061|Acne;HP:0005901|Chronic recurrent multifocal osteomyelitis;HP:0005464|Craniofacial osteosclerosis;HP:0012378|Fatigue;HP:0002653|Bone pain;HP:0001824|Weight loss;HP:0002037|Inflammation of the large intestine;HP:0005930|Abnormality of epiphysis morphology;HP:0002797|Osteolysis;HP:0003565|Elevated erythrocyte sedimentation rate;HP:0001939|Laboratory abnormality;HP:0003765|Psoriasis;HP:0100774|Hyperostosis;HP:0001903|Anemia;HP:0100781|Abnormality of the sacroiliac joint;HP:0002754|Osteomyelitis;HP:0002633|Vasculitis;HP:0002650|Scoliosis;HP:0003468|Abnormality of the vertebrae;HP:0001945|Fever;HP:0100847|Palmoplantar pustulosis;HP:0000988|Skin rash;HP:0004396|Poor appetite;HP:0001369|Arthritis;HP:0000989|Pruritus;HP:0006824|Cranial nerve paralysis;HP:0011227|Elevated C-reactive protein level;HP:0000944|Abnormality of the metaphyses;HP:0000969|Edema
bradyopsia	HP:0000505|Visual impairment;HP:0030511|Bradyopsia;HP:0000613|Photophobia
buschke-ollendorff syndrome	HP:0005789|Generalized osteosclerosis;HP:0002653|Bone pain;HP:0004322|Short stature;HP:0007513|Generalized hypopigmentation;HP:0001482|Subcutaneous nodule;HP:0000365|Hearing impairment;HP:0007488|Diffuse skin atrophy;HP:0010739|Osteopoikilosis;HP:0005930|Abnormality of epiphysis morphology;HP:0100898|Connective tissue nevi;HP:0001004|Lymphedema;HP:0000083|Renal insufficiency;HP:0001387|Stiff joints;HP:0003330|Abnormal bone structure;HP:0000987|Atypical scarring of skin;HP:0001371|Flexion contracture;HP:0002829|Arthralgia;HP:0003326|Myalgia;HP:0002652|Skeletal dysplasia;HP:0009055|Generalized limb muscle atrophy;HP:0000486|Strabismus;HP:0100774|Hyperostosis;HP:0000822|Hypertension;HP:0000164|Abnormality of the teeth;HP:0009121|Abnormal axial skeleton morphology;HP:0000982|Palmoplantar keratoderma;HP:0001609|Hoarse voice;HP:0001028|Hemangioma;HP:0005469|Flat occiput;HP:0002757|Recurrent fractures;HP:0001609|Hoarseness;HP:0100324|Scleroderma;HP:0003764|Naevus;HP:0001679|Abnormality of the aorta;HP:0001363|Craniosynostosis;HP:0001371|Flexion contractures of joints;HP:0000505|Visual impairment;HP:0001369|Arthritis;HP:0001387|Joint stiffness;HP:0010554|Cutaneous finger syndactyly;HP:0200034|Papule;HP:0000944|Abnormality of the metaphyses
johanson-blizzard syndrome	HP:0001651|Dextrocardia;HP:0001092|Absent lacrimal punctum;HP:0002023|Anal atresia;HP:0003196|Short nose;HP:0004322|Short stature;HP:0010720|Abnormal hair pattern;HP:0008736|Hypoplasia of penis;HP:0000047|Hypospadias;HP:0001545|Anteriorly placed anus;HP:0000126|Hydronephrosis;HP:0002564|Malformation of the heart and great vessels;HP:0000164|Abnormality of the teeth;HP:0000684|Delayed eruption of teeth;HP:0001522|Death in infancy;HP:0001511|Intrauterine growth retardation;HP:0000407|Sensorineural hearing impairment;HP:0000677|Oligodontia;HP:0001903|Anemia;HP:0002024|Malabsorption;HP:0000632|Lacrimation abnormality;HP:0000252|Microcephaly;HP:0003075|Hypoproteinemia;HP:0001508|Failure to thrive;HP:0000430|Underdeveloped nasal alae;HP:0001249|Intellectual disability;HP:0001738|Exocrine pancreatic insufficiency;HP:0000142|Abnormality of the vagina;HP:0000691|Microdontia;HP:0001596|Alopecia;HP:0005288|Abnormality of the nares;HP:0002750|Delayed skeletal maturation;HP:0010460|Abnormality of the female genitalia;HP:0000819|Diabetes mellitus;HP:0001732|Abnormality of the pancreas;HP:0001252|Muscular hypotonia;HP:0001671|Abnormality of the cardiac septa;HP:0000969|Edema
somatostatinoma	HP:0002239|Gastrointestinal hemorrhage;HP:0001438|Abnormality of the abdomen;HP:0100833|Neoplasm of the small intestine;HP:0002019|Constipation;HP:0001824|Weight loss;HP:0000845|Growth hormone excess;HP:0005609|Gallbladder dysfunction;HP:0012432|Chronic fatigue;HP:0005214|Intestinal obstruction;HP:0001031|Subcutaneous lipoma;HP:0002014|Diarrhea;HP:0000837|Increased circulating gonadotropin level;HP:0002017|Nausea and vomiting;HP:0012334|Extrahepatic cholestasis;HP:0004840|Hypochromic microcytic anemia;HP:0002574|Episodic abdominal pain;HP:0001541|Ascites;HP:0008200|Primary hyperparathyroidism;HP:0008256|Adrenocortical adenoma;HP:0001406|Intrahepatic cholestasis;HP:0002893|Pituitary adenoma;HP:0002240|Hepatomegaly;HP:0001578|Hypercortisolism;HP:0002865|Medullary thyroid carcinoma;HP:0000820|Abnormality of the thyroid gland;HP:0003072|Hypercalcemia;HP:0002570|Steatorrhea;HP:0004396|Poor appetite;HP:0001046|Intermittent jaundice;HP:0000870|Prolactin excess;HP:0002894|Neoplasm of the pancreas;HP:0000819|Diabetes mellitus;HP:0030145|Lack of bowel sounds;HP:0002039|Anorexia;HP:0002897|Parathyroid adenoma
kid syndrome	HP:0000157|Abnormality of the tongue;HP:0000028|Cryptorchidism;HP:0000670|Carious teeth;HP:0001025|Urticaria;HP:0001810|Dystrophic toenail;HP:0012733|Macule;HP:0004322|Short stature;HP:0002213|Fine hair;HP:0000365|Hearing impairment;HP:0001321|Cerebellar hypoplasia;HP:0002251|Aganglionic megacolon;HP:0002797|Osteolysis;HP:0010783|Erythema;HP:0006739|Squamous cell carcinoma of the skin;HP:0002745|Oral leukoplakia;HP:0005406|Recurrent bacterial skin infections;HP:0200020|Corneal erosion;HP:0000164|Abnormality of the teeth;HP:0000684|Delayed eruption of teeth;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0011344|Severe global developmental delay;HP:0001315|Reduced tendon reflexes;HP:0000407|Sensorineural hearing impairment;HP:0004374|Hemiplegia/hemiparesis;HP:0200042|Skin ulcer;HP:0000982|Palmoplantar keratoderma;HP:0002664|Neoplasm;HP:0005595|Generalized hyperkeratosis;HP:0000221|Furrowed tongue;HP:0000966|Hypohidrosis;HP:0008070|Sparse hair;HP:0000491|Keratitis;HP:0000529|Progressive visual loss;HP:0001249|Intellectual disability;HP:0008391|Dystrophic fingernails;HP:0001800|Hypoplastic toenails;HP:0001596|Alopecia;HP:0000505|Visual impairment;HP:0001369|Arthritis;HP:0002750|Delayed skeletal maturation;HP:0000613|Photophobia;HP:0000499|Abnormality of the eyelashes;HP:0001072|Thickened skin;HP:0011496|Corneal neovascularization;HP:0001804|Hypoplastic fingernail;HP:0008064|Ichthyosis
distal renal tubular acidosis	HP:0008897|Growth retardation as children;HP:0002901|Hypocalcemia;HP:0000121|Nephrocalcinosis;HP:0001947|Renal tubular acidosis;HP:0003768|Periodic paralysis;HP:0002756|Pathologic fracture;HP:0008153|Hypokalemic periodic paresis;HP:0002749|Osteomalacia
calciphylaxis	HP:0011122|Abnormality of skin physiology;HP:0000965|Cutis marmorata;HP:0100658|Cellulitis;HP:0002905|Hyperphosphatemia;HP:0100806|Sepsis;HP:0003207|Arterial calcification;HP:0003774|Stage 5 chronic kidney disease;HP:0011986|Ectopic ossification;HP:0200042|Skin ulcer;HP:0100758|Gangrene;HP:0000867|Secondary hyperparathyroidism;HP:0001939|Abnormality of metabolism/homeostasis
poems syndrome	HP:0004576|Sclerotic vertebral endplates;HP:0000818|Abnormality of the endocrine system;HP:0100759|Clubbing of fingers;HP:0002202|Pleural effusion;HP:0003271|Visceromegaly;HP:0001271|Polyneuropathy;HP:0100639|Erectile abnormalities;HP:0012378|Fatigue;HP:0004054|Sclerosis of hand bone;HP:0001824|Weight loss;HP:0012531|Pain;HP:0000953|Hyperpigmentation of the skin;HP:0001698|Pericardial effusion;HP:0000135|Hypogonadism;HP:0002716|Lymphadenopathy;HP:0003401|Paresthesia;HP:0005523|Lymphoproliferative disorder;HP:0002111|Restrictive deficit on pulmonary function testing;HP:0009125|Lipodystrophy;HP:0001541|Ascites;HP:0001894|Thrombocytosis;HP:0001028|Hemangioma;HP:0100925|Sclerosis of foot bone;HP:0100963|Hyperesthesia;HP:0000771|Gynecomastia;HP:0002694|Sclerosis of skull base;HP:0004936|Venous thrombosis;HP:0001284|Areflexia;HP:0002747|Respiratory insufficiency due to muscle weakness;HP:0001820|Leukonychia;HP:0004979|Metaphyseal sclerosis;HP:0000998|Hypertrichosis;HP:0001085|Papilledema;HP:0000870|Prolactin excess;HP:0001324|Muscle weakness;HP:0000819|Diabetes mellitus;HP:0001072|Thickened skin;HP:0008207|Primary adrenal insufficiency;HP:0001063|Acrocyanosis;HP:0001901|Polycythemia;HP:0004420|Arterial thrombosis;HP:0002092|Pulmonary arterial hypertension;HP:0011122|Abnormality of skin physiology;HP:0010702|Increased antibody level in blood;HP:0000821|Hypothyroidism;HP:0000969|Edema
schimke immuno-osseous dysplasia	HP:0000938|Decreased bone mineral density;HP:0000470|Short neck;HP:0003300|Oval vertebral bodies;HP:0000691|Decreased width of tooth;HP:0001888|Lymphocytopenia;HP:0003521|Disproportionate short-trunk short stature;HP:0000097|focal glomerulosclerosis;HP:0005930|Abnormality of epiphysis morphology;HP:0007759|Cloudy cornea;HP:0010701|Abnormal serum level of immunoglobulin;HP:0005280|Depressed nasal bridge;HP:0000093|Proteinuria;HP:0000470|Decreased cervical height;HP:0000083|Renal insufficiency;HP:0001034|Hyperpigmented spots;HP:0100820|Glomerulopathy;HP:0002326|TIA;HP:0001873|Thrombocytopenia;HP:0005374|Cellular immunodeficiency;HP:0002938|Exaggerated lumbar lordosis;HP:0003307|Hyperlordosis;HP:0002719|infections, recurrent;HP:0000822|Hypertension;HP:0001888|Lymphopenia;HP:0002925|Increased serum thyroid-stimulating hormone;HP:0000100|Nephrosis;HP:0001511|Intrauterine growth retardation;HP:0002843|Cellular immune defect;HP:0002843|Abnormality of T cells;HP:0006453|Laterally displaced femoral heads;HP:0001538|Protuberant abdomen;HP:0001903|Anemia;HP:0001270|Motor retardation;HP:0003182|Shallow acetabulae;HP:0002213|Thin hair shaft;HP:0003312|Abnormal form of the vertebral bodies;HP:0002942|Thoracic kyphosis;HP:0000545|Near sightedness;HP:0005280|Flat, nasal bridge;HP:0000483|Astigmatism;HP:0001875|Neutropenia;HP:0000926|Platyspondyly;HP:0001873|Low platelet count;HP:0001511|Prenatal onset growth retardation;HP:0000926|Flattened vertebral bodies;HP:0000995|Melanocytic nevus;HP:0002515|Waddling gait;HP:0002208|Coarse hair texture;HP:0000691|Microdontia;HP:0003300|Ovoid vertebral bodies;HP:0002634|Arteriosclerosis;HP:0003090|Hypoplasia of the capital femoral epiphysis;HP:0000100|Nephrotic syndrome;HP:0002827|Hip dislocation;HP:0001620|High pitched voice;HP:0007565|Multiple cafe-au-lait spots;HP:0000414|Bulbous nose;HP:0002655|Spondyloepiphyseal dysplasia
micro syndrome	HP:0001317|Abnormality of the cerebellum;HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0010864|Intellectual disability, severe;HP:0000568|Microphthalmia;HP:0000518|Cataract;HP:0001320|Cerebellar vermis hypoplasia;HP:0003196|Short nose;HP:0004322|Short stature;HP:0000218|High palate;HP:0001339|Lissencephaly;HP:0008736|Hypoplasia of penis;HP:0001257|Spasticity;HP:0000347|Micrognathia;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0000126|Hydronephrosis;HP:0009830|Peripheral neuropathy;HP:0002120|Cerebral cortical atrophy;HP:0001511|Intrauterine growth retardation;HP:0001302|Pachygyria;HP:0001250|Seizures;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0002808|Kyphosis;HP:0000480|Retinal coloboma;HP:0000648|Optic atrophy;HP:0000823|Delayed puberty;HP:0002230|Generalized hirsutism;HP:0000431|Wide nasal bridge;HP:0007703|Abnormality of retinal pigmentation;HP:0100704|Cortical visual impairment;HP:0000060|Clitoral hypoplasia;HP:0000322|Short philtrum;HP:0000064|Hypoplastic labia minora;HP:0001387|Joint stiffness;HP:0100542|Abnormal localization of kidney;HP:0000463|Anteverted nares;HP:0000400|Macrotia;HP:0000368|Low-set, posteriorly rotated ears;HP:0000649|Abnormality of visual evoked potentials;HP:0001252|Muscular hypotonia;HP:0000482|Microcornea
idiopathic pulmonary hemosiderosis	HP:0001891|Iron-deficiency anemia;HP:0002206|Pulmonary fibrosis;HP:0002093|progressive respiratory failure;HP:0006535|Recurrent intrapulmonary hemorrhage;HP:0002086|Respiratory abnormality;HP:0002105|Hemoptysis;HP:0005828|Transient pulmonary infiltrates;HP:0002720|Decreased immunoglobulin A
congenital dyserythropoietic anemia type ii	HP:0001744|Splenomegaly;HP:0000952|Yellow skin;HP:0003655|Deficient N-acetylglucosaminyltransferase II;HP:0001923|Reticulocytosis;HP:0010972|Anemia of inadequate production;HP:0003352|Endopolyploidy on chromosome studies of bone marrow;HP:0001081|Gallstones
barber-say syndrome	HP:0011224|Ablepharon;HP:0000365|Hearing impairment;HP:0000974|Hyperextensible skin;HP:0002557|Hypoplastic nipples;HP:0000154|Wide mouth;HP:0000506|Telecanthus;HP:0000316|Hypertelorism;HP:0000684|Delayed eruption of teeth;HP:0000049|Shawl scrotum;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0000271|Abnormality of the face;HP:0000413|Atresia of the external auditory canal;HP:0000656|Ectropion;HP:0001508|Failure to thrive;HP:0002230|Generalized hirsutism;HP:0000431|Wide nasal bridge;HP:0001582|Redundant skin;HP:0100783|Breast aplasia;HP:0000463|Anteverted nares;HP:0000377|Abnormality of the pinna;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0000414|Bulbous nose;HP:0200102|Sparse or absent eyelashes
aromatase excess syndrome	HP:0005616|Early bone maturation;HP:0004322|Stature below 3rd percentile;HP:0000771|Gynaecomastia
benign familial neonatal epilepsy	HP:0001250|Seizures;HP:0100543|Cognitive impairment;HP:0001276|Hypertonia
bilateral striopallidodentate calcinosis	HP:0001250|Seizures;HP:0007957|Corneal opacity;HP:0001873|Thrombocytopenia;HP:0000252|Microcephaly;HP:0002119|Ventriculomegaly;HP:0002514|Cerebral calcification;HP:0001392|Abnormality of the liver;HP:0001511|Intrauterine growth retardation;HP:0002240|Hepatomegaly;HP:0001933|Subcutaneous hemorrhage;HP:0002269|Abnormality of neuronal migration
osteoporosis-pseudoglioma syndrome	HP:0001252|Hypotonia;HP:0003016|Wide metaphyses;HP:0004322|Stature below 3rd percentile;HP:0002751|Kyphoscoliosis;HP:0000252|Small head circumference;HP:0000618|Blindness;HP:0000518|Cataract;HP:0001382|Hyperextensible joints;HP:0001552|Barrel chest;HP:0002659|Increased tendency to fractures;HP:0000667|Phthisis bulbi;HP:0007773|Vitreoretinopathy;HP:0000939|Osteoporosis;HP:0000568|Abnormally small globe of eye;HP:0008037|Absent anterior eye chamber;HP:0002756|Pathologic fracture;HP:0001256|Mild mental retardation;HP:0009733|Glioma;HP:0001629|Ventricular septal defects;HP:0000926|Flattened vertebral bodies;HP:0001089|Iris atrophy
hereditary neuropathy with liability to pressure palsies	HP:0003401|Paresthesia;HP:0003431|Decreased motor nerve conduction velocities;HP:0002093|Respiratory insufficiency;HP:0003481|Segmental peripheral demyelination/remyelination;HP:0001265|Decreased tendon reflexes;HP:0001608|Abnormality of the voice;HP:0001605|Vocal cord paralysis;HP:0002650|Scoliosis;HP:0009830|Peripheral neuropathy;HP:0001324|Muscular weakness;HP:0003431|Decreased motor nerve conduction velocity;HP:0001265|Hyporeflexia;HP:0006824|Cranial nerve paralysis;HP:0001761|Pes cavus
choroid plexus papilloma	HP:0001250|Seizures;HP:0001085|Papilledema;HP:0200022|Choroid plexus papilloma;HP:0002018|Nausea;HP:0002315|Headaches;HP:0000238|Nonsyndromal hydrocephalus;HP:0002013|Emesis
osteopathia striata with cranial sclerosis	HP:0000767|Funnel chest;HP:0000689|Misalignment of upper and lower dental arches;HP:0001611|Hypernasal speech;HP:0002023|Anal atresia;HP:0000239|Persistent wide fontanel;HP:0000465|Pterygium colli;HP:0005464|Craniofacial osteosclerosis;HP:0000347|Hypoplasia of mandible;HP:0000256|Macrocrania;HP:0001562|Oligohydramnios;HP:0002020|Heartburn;HP:0000316|Increased distance between eye sockets;HP:0001166|Long, slender fingers;HP:0000678|Dental crowding;HP:0001629|Ventricular septal defects;HP:0000396|Overfolded ears;HP:0001561|Hydramnios;HP:0000201|Pierre-robin deformity;HP:0002684|Thickened calvarium;HP:0000286|Palpebronasal fold;HP:0004322|Stature below 3rd percentile;HP:0005950|Laryngeal webs;HP:0004209|Clinodactyly of fifth digit;HP:0000369|Low-set ears;HP:0001762|Talipes equinovarus;HP:0003298|Spina bifida occulta;HP:0000204|Cleft upper lip;HP:0002007|Frontal protruberance;HP:0005619|Thoracolumbar kyphosis;HP:0000179|Plump lower lip;HP:0000175|Palatoschisis;HP:0000695|Natal teeth;HP:0001338|Partial agenesis of the corpus callosum;HP:0000358|Ear, posterior angulation, increased;HP:0002779|Tracheomalacia;HP:0005830|Flexion contracture of toe;HP:0000750|Late-onset speech development;HP:0001631|Atria septal defect;HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0002694|Sclerosis of skull base;HP:0000003|Multicystic kidney dysplasia;HP:0009473|Joint contracture of the hand;HP:0001476|Late closure of the bregma sutures;HP:0006587|Straight collarbone;HP:0001643|Persistent ductus arteriosus;HP:0000218|Increased palatal height;HP:0010740|Osteopathia striata;HP:0003038|Hypoplastic fibula;HP:0001539|Omphalocele;HP:0000885|Wide ribs;HP:0001508|Weight faltering;HP:0002650|Scoliosis;HP:0002025|Narrowing of anal opening;HP:0002315|Headaches;HP:0000431|Broad nasal root;HP:0006610|Wide intermamillary distance;HP:0012385|Camptodactyly;HP:0000405|Conductive hearing loss;HP:0000341|Narrow bitemporal diameter;HP:0002566|Intestinal malrotation;HP:0000238|Nonsyndromal hydrocephalus;HP:0006784|Underdevelopment of paranasal sinus;HP:0000193|Uvula bifida;HP:0001256|Mild mental retardation;HP:0002990|Absent calf bone;HP:0002104|Absence of spontaneous respiration;HP:0008551|Hypoplasia of the external ear;HP:0010628|Facial palsy, unilateral or bilateral
sertoli cell-only syndrome	HP:0001939|Laboratory abnormality;HP:0000765|Abnormality of the thorax;HP:0000771|Gynaecomastia;HP:0001513|Obesity
adams oliver syndrome	HP:0002558|accessory mamilla;HP:0002079|Hypoplasia of the corpus callosum;HP:0007590|Aplasia cutis congenita over posterior parietal area;HP:0001770|Toe syndactyly;HP:0001792|Hypoplastic nails;HP:0000565|Inward turning of one or both eyes;HP:0001629|Ventricular septal defects;HP:0007589|Aplasia cutis congenita on trunk or limbs;HP:0001362|Cranial defect;HP:0002092|Pulmonary artery hypertension;HP:0001762|Talipes equinovarus;HP:0002084|Bifid skull;HP:0001302|Cerebral pachygyria;HP:0000204|Cleft upper lip;HP:0001636|Tetrology of fallot;HP:0002539|Cortical dysplasia;HP:0001642|Pulmonic stenosis;HP:0000175|Palatoschisis;HP:0001249|Mental retardation;HP:0001252|Hypotonia;HP:0001631|Atria septal defect;HP:0001250|Seizures;HP:0006970|Periventricular leukomalacia;HP:0000252|Small head circumference;HP:0001263|Developmental retardation;HP:0000965|Livedo reticularis;HP:0004383|Underdeveloped left heart;HP:0004415|Pulmonary artery stenosis;HP:0001647|Bicuspid aortic valve;HP:0001156|Brachydactyly;HP:0001596|Hair loss;HP:0002126|Polymicrogyria;HP:0000568|Abnormally small globe of eye;HP:0001650|Valvular aortic stenosis;HP:0002119|Ventricular dilatation
l1 syndrome	HP:0001263|Global developmental delay;HP:0000486|Squint eyes;HP:0001181|Adducted thumbs;HP:0001258|Spastic paraplegia, lower limb;HP:0000256|Macrocrania;HP:0002251|Aganglionic megacolon;HP:0001274|Absent corpus callosum;HP:0002463|Language impairment;HP:0001257|Spasticity;HP:0004322|Stature below 3rd percentile;HP:0002808|Gibbus deformity;HP:0003307|Hyperlordosis;HP:0002381|Aphasia;HP:0001762|Talipes equinovarus;HP:0002017|Nausea and vomiting;HP:0004374|Hemiplegia/hemiparesis;HP:0003202|Skeletal muscle atrophy;HP:0001249|Mental retardation;HP:0001250|Seizures;HP:0000252|Small head circumference;HP:0001288|Gait disturbance;HP:0002362|Shuffling gait;HP:0001181|Adducted thumb;HP:0001761|Pes cavus;HP:0001249|Intellectual disability;HP:0001347|Hyperreflexia;HP:0002410|Aqueductal stenosis;HP:0000238|Nonsyndromal hydrocephalus;HP:0000716|Depression;HP:0000238|Hydrocephalus;HP:0002315|Headache;HP:0002119|Ventricular dilatation
chilblain lupus	HP:0003493|Elevated antinuclear antibody;HP:0001597|Abnormality of the nail;HP:0200042|Skin ulcer;HP:0002829|Arthralgias
autosomal recessive hypophosphatemic rickets	HP:0003109|Hyperphosphaturia;HP:0004576|Sclerotic vertebral endplates;HP:0012052|Low serum calcitriol;HP:0002653|Bone pain;HP:0004322|Short stature;HP:0100671|Abnormal trabecular bone morphology;HP:0002982|Tibial bowing;HP:0030757|Tooth abscess;HP:0002970|Genu varum;HP:0002652|Skeletal dysplasia;HP:0006463|Rickets of the lower limbs;HP:0005764|Polyarticular arthritis;HP:0000684|Delayed eruption of teeth;HP:0008732|Renal hypophosphatemia;HP:0100686|Enthesitis;HP:0010639|Elevated alkaline phosphatase of bone origin;HP:0000407|Sensorineural hearing impairment;HP:0005096|Distal femoral bowing;HP:0002024|Malabsorption;HP:0001510|Growth delay;HP:0000117|Renal phosphate wasting;HP:0100781|Abnormality of the sacroiliac joint;HP:0001250|Seizures;HP:0011001|Increased bone mineral density;HP:0011036|Abnormality of renal excretion;HP:0100511|Abnormality of vitamin D metabolism;HP:0003472|Hypocalcemic tetany;HP:0100036|Pseudo-fractures;HP:0002814|Abnormality of the lower limb;HP:0003416|Spinal canal stenosis;HP:0002812|Coxa vara;HP:0001363|Craniosynostosis;HP:0001324|Muscle weakness;HP:0003020|Enlargement of the wrists;HP:0100559|Lower limb asymmetry;HP:0004912|Hypophosphatemic rickets;HP:0002749|Osteomalacia
dihydrolipoamide dehydrogenase deficiency	HP:0000961|Cyanosis;HP:0002179|Opisthotonus;HP:0000486|Squint eyes;HP:0000252|Small head circumference;HP:0001263|Developmental retardation;HP:0002875|Exertional dyspnea;HP:0012119|Methemoglobinemia;HP:0002315|Headaches;HP:0001510|Growth deficiency;HP:0001901|Abnormally shaped erythrocytes;HP:0001276|Hypertonia;HP:0001249|Mental retardation
sturge weber syndrome	HP:0001250|Seizures;HP:0007872|Choroidal hemangioma;HP:0012222|Arachnoid hemangiomatosis;HP:0000557|Buphthalmos;HP:0000256|Macrocrania;HP:0002120|Cerebral cortical atrophy;HP:0000329|Facial hemangiomata;HP:0001249|Mental retardation
pelizaeus merzbacher disease	HP:0000639|Nystagmus;HP:0001252|Hypotonia;HP:0002415|Degeneration of white matter of brain
hypercholesterolemia, familial	HP:0002155|Increased triglycerides;HP:0003141|Hyperbetalipoproteinemia;HP:0000951|dermatopathy;HP:0002635|Atheromatosis;HP:0003124|Elevated serum cholesterol;HP:0001114|Fatty deposits on eyelids;HP:0001084|Corneal annulus
rapid-onset dystonia-parkinsonism	HP:0002015|Swallowing difficulty;HP:0002067|Bradykinesia;HP:0000473|Spasmodic torticollis;HP:0000712|Emotional instability;HP:0002307|Sialorrhea;HP:0002172|Postural instability;HP:0000338|Hypomimic face;HP:0000716|Depression;HP:0002300|Muteness;HP:0002317|Unsteady walk;HP:0001300|Parkinsonism;HP:0001260|Dysarthric speech;HP:0000739|Anxiety
biliary cirrhosis, primary, 1	HP:0002613|Biliary cirrhosis
craniorachischisis	HP:0010309|Bifid sternum;HP:0002023|Anal atresia;HP:0005857|Cervical spina bifida;HP:0010301|Spinal dysraphism;HP:0010497|Sirenomelia;HP:0001539|Omphalocele;HP:0002475|Myelomeningocele;HP:0002323|Anencephaly;HP:0000776|Congenital diaphragmatic hernia
primary pigmented nodular adrenocortical disease	HP:0000963|Thin skin;HP:0001580|Pigmented micronodular adrenocortical disease;HP:0008221|Adrenal hyperplasia;HP:0001065|Striae distensae;HP:0001324|Muscle weakness;HP:0012378|Fatigue;HP:0004322|Short stature;HP:0000819|Diabetes mellitus;HP:0000939|Osteoporosis;HP:0000822|Hypertension;HP:0002659|Increased susceptibility to fractures;HP:0001533|Slender build;HP:0003198|Myopathy;HP:0003202|Skeletal muscle atrophy;HP:0000135|Hypogonadism
naxos disease	HP:0001635|Congestive heart failure;HP:0000975|Hyperhidrosis;HP:0002321|Vertigo;HP:0001645|Sudden cardiac death;HP:0010719|Abnormality of hair texture;HP:0005141|Episodes of ventricular tachycardia;HP:0002209|Sparse scalp hair;HP:0011675|Arrhythmia;HP:0000204|Cleft upper lip;HP:0002212|Curly hair;HP:0002224|Woolly hair;HP:0000956|Acanthosis nigricans;HP:0000982|Palmoplantar keratoderma;HP:0001638|Cardiomyopathy
complete atrioventricular canal	HP:0001671|Abnormality of the cardiac septa
porokeratosis of mibelli	HP:0000962|Hyperkeratosis;HP:0200044|Porokeratosis;HP:0000992|Cutaneous photosensitivity;HP:0000989|Pruritus;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0008069|Neoplasm of the skin;HP:0003220|Abnormality of chromosome stability
rhabdoid tumor	HP:0002896|Neoplasm of the liver;HP:0100021|Cerebral palsy;HP:0002027|Abdominal pain;HP:0001482|Subcutaneous nodule;HP:0001824|Weight loss;HP:0002716|Lymphadenopathy;HP:0001873|Thrombocytopenia;HP:0000822|Hypertension;HP:0002017|Nausea and vomiting;HP:0011029|Internal hemorrhage;HP:0000790|Hematuria;HP:0001903|Anemia;HP:0012246|Oculomotor nerve palsy;HP:0002093|Respiratory insufficiency;HP:0002301|Hemiplegia;HP:0100242|Sarcoma;HP:0001945|Fever;HP:0009726|Renal neoplasm;HP:0003072|Hypercalcemia;HP:0004396|Poor appetite;HP:0000737|Irritability;HP:0006824|Cranial nerve paralysis;HP:0100006|Neoplasm of the central nervous system;HP:0002315|Headache
colonic atresia	HP:0004398|Peptic ulcer;HP:0003270|Abdominal distention;HP:0003363|Abdominal situs inversus;HP:0001539|Omphalocele;HP:0100867|Duodenal stenosis;HP:0003270|Distended abdomen;HP:0100016|Abnormality of the mesentery;HP:0010448|Colonic atresia;HP:0010448|Large intestinal atresia;HP:0001543|Gastroschisis
usher syndrome type 2	HP:0000639|Nystagmus;HP:0000670|Carious teeth;HP:0000518|Cataract;HP:0000682|Abnormality of dental enamel;HP:0000545|Myopia;HP:0000572|Visual loss;HP:0000512|Abnormal electroretinogram;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0001251|Ataxia;HP:0011073|Abnormality of dental color;HP:0012157|Subcortical cerebral atrophy;HP:0007730|Iris hypopigmentation;HP:0000359|Abnormality of the inner ear;HP:0002120|Cerebral cortical atrophy;HP:0000407|Sensorineural hearing impairment;HP:0000739|Anxiety;HP:0012377|Hemianopsia;HP:0000691|Microdontia;HP:0000575|Scotoma;HP:0100753|Schizophrenia;HP:0000738|Hallucinations;HP:0000716|Depression;HP:0000662|Nyctalopia
generalized resistance to thyroid hormone	HP:0010655|Epiphyseal stippling;HP:0002750|Delayed skeletal maturation;HP:0000444|Convex nasal ridge;HP:0000912|Sprengel anomaly;HP:0000407|Sensorineural hearing impairment;HP:0000768|Pectus carinatum;HP:0000820|Abnormality of the thyroid gland
lhermitte-duclos disease	HP:0001250|Seizures;HP:0100031|Neoplasm of the thyroid gland;HP:0001251|Ataxia;HP:0000256|Macrocephaly;HP:0012844|Trichilemmoma;HP:0012081|Enlarged cerebellum;HP:0002126|Polymicrogyria;HP:0000158|Macroglossia;HP:0002017|Nausea and vomiting;HP:0002516|Increased intracranial pressure;HP:0001161|Hand polydactyly;HP:0006824|Cranial nerve paralysis;HP:0200016|Acrokeratosis;HP:0200034|Papule;HP:0000238|Hydrocephalus;HP:0100615|Ovarian neoplasm;HP:0002315|Headache;HP:0010619|Fibroma of the breast
perineural cyst	HP:0000802|Impotence;HP:0003401|Paresthesia;HP:0000925|Abnormality of the vertebral column;HP:0005107|Abnormality of the sacrum;HP:0004375|Neoplasm of the nervous system;HP:0000763|Sensory neuropathy;HP:0002607|Bowel incontinence;HP:0001324|Muscle weakness;HP:0002839|Urinary bladder sphincter dysfunction;HP:0001284|Areflexia;HP:0002027|Abdominal pain;HP:0001482|Subcutaneous nodule;HP:0010830|Impaired tactile sensation;HP:0002797|Osteolysis;HP:0002315|Headache
pituitary carcinoma	HP:0000873|Diabetes insipidus;HP:0000365|Hearing impairment;HP:0007987|Progressive visual field defects;HP:0100836|Malignant neoplasm of the central nervous system;HP:0000845|Growth hormone excess;HP:0012505|Enlarged pituitary gland;HP:0001251|Ataxia;HP:0100561|Spinal cord lesion;HP:0040075|Hypopituitarism;HP:0010514|Hyperpituitarism;HP:0011759|Pituitary gonadotropic cell adenoma;HP:0006767|Pituitary prolactin cell adenoma;HP:0003154|Increased circulating ACTH level;HP:0008291|Pituitary corticotropic cell adenoma;HP:0011760|Pituitary growth hormone cell adenoma;HP:0007739|Mildly reduced visual acuity;HP:0011763|Pituitary carcinoma;HP:0012377|Hemianopsia;HP:0000870|Prolactin excess;HP:0011442|Abnormality of central motor function;HP:0011762|Pituitary thyrotropic cell adenoma;HP:0002315|Headache
anaplastic thyroid carcinoma	HP:0002094|Dyspnea;HP:0010622|Neoplasm of the skeletal system;HP:0002015|Dysphagia;HP:0001824|Weight loss;HP:0012531|Pain;HP:0002575|Tracheoesophageal fistula;HP:0002781|Upper airway obstruction;HP:0100836|Malignant neoplasm of the central nervous system;HP:0002098|Respiratory distress;HP:0004894|Laryngotracheal stenosis;HP:0011779|Anaplastic thyroid carcinoma;HP:0002716|Lymphadenopathy;HP:0100526|Neoplasm of the lung;HP:0001605|Vocal cord paralysis;HP:0005994|Nodular goiter;HP:0002105|Hemoptysis;HP:0001609|Hoarse voice;HP:0001618|Dysphonia;HP:0010307|Stridor;HP:0011805|Abnormality of muscle morphology;HP:0012735|Cough;HP:0000853|Goiter;HP:0000475|Broad neck
loose anagen hair syndrome	HP:0008070|Thinned hair;HP:0040169|Loose anagen hair;HP:0002286|Fair hair
brachydactyly type a1	HP:0003022|Hypoplasia of the ulna;HP:0010109|Short hallux;HP:0001230|Broad metacarpals;HP:0004322|Short stature;HP:0002650|Scoliosis;HP:0001762|Talipes equinovarus;HP:0005819|Short middle phalanx of finger;HP:0010579|Cone-shaped epiphysis;HP:0004209|Clinodactyly of the 5th finger;HP:0001204|Distal symphalangism (hands);HP:0001773|Short foot;HP:0009778|Short thumb
legionellosis	HP:0012378|Fatigue;HP:0001733|Pancreatitis;HP:0100584|Endocarditis;HP:0002027|Abdominal pain;HP:0100806|Sepsis;HP:0002383|Encephalitis;HP:0000093|Proteinuria;HP:0000083|Renal insufficiency;HP:0002829|Arthralgia;HP:0002716|Lymphadenopathy;HP:0002091|Restrictive lung disease;HP:0003326|Myalgia;HP:0001251|Ataxia;HP:0005528|Bone marrow hypocellularity;HP:0002014|Diarrhea;HP:0002902|Hyponatremia;HP:0009830|Peripheral neuropathy;HP:0002113|Pulmonary infiltrates;HP:0002615|Hypotension;HP:0002017|Nausea and vomiting;HP:0001888|Lymphopenia;HP:0004372|Reduced consciousness/confusion;HP:0100776|Recurrent pharyngitis;HP:0000790|Hematuria;HP:0000952|Jaundice;HP:0002105|Hemoptysis;HP:0002088|Abnormality of lung morphology;HP:0002093|Respiratory insufficiency;HP:0011675|Arrhythmia;HP:0001945|Fever;HP:0012819|Myocarditis;HP:0002076|Migraine;HP:0012735|Cough;HP:0002103|Abnormality of the pleura;HP:0001701|Pericarditis;HP:0001744|Splenomegaly;HP:0100658|Cellulitis;HP:0001324|Muscle weakness;HP:0100749|Chest pain;HP:0000738|Hallucinations;HP:0012115|Hepatitis;HP:0002039|Anorexia
hyperparathyroidism-jaw tumor syndrome	HP:0004398|Peptic ulcer;HP:0000843|Hyperparathyroidism;HP:0000787|Nephrolithiasis;HP:0012378|Fatigue;HP:0002015|Dysphagia;HP:0003165|Elevated circulating parathyroid hormone level;HP:0001733|Pancreatitis;HP:0002653|Bone pain;HP:0002019|Constipation;HP:0010788|Testicular neoplasm;HP:0012032|Lipoma;HP:0002315|Headache;HP:0100027|Recurring pancreatitis;HP:0006766|Papillary renal cell carcinoma;HP:0010614|Fibroma;HP:0000083|Renal insufficiency;HP:0008696|Renal hamartoma;HP:0010566|Hamartoma;HP:0000107|Renal cyst;HP:0000934|Chondrocalcinosis;HP:0002017|Nausea and vomiting;HP:0002574|Episodic abdominal pain;HP:0008200|Primary hyperparathyroidism;HP:0006725|Pancreatic adenocarcinoma;HP:0002667|Wilms tumor;HP:0200025|Mandibular pain;HP:0006781|Hurthle cell thyroid adenoma;HP:0011766|Abnormality of the parathyroid morphology;HP:0002150|Hypercalciuria;HP:0002667|Nephroblastoma;HP:0000234|Head abnormality;HP:0000121|Nephrocalcinosis;HP:0000939|Osteoporosis;HP:0008250|Infantile hypercalcemia;HP:0000131|Uterine leiomyoma;HP:0006780|Parathyroid Cancer;HP:0001959|Polydipsia;HP:0002890|Thyroid carcinoma;HP:0003072|Hypercalcemia;HP:0000787|Renal calculi;HP:0006735|Kidney cortical adenoma;HP:0001324|Muscle weakness;HP:0012232|Shortened QT interval;HP:0000113|Polycystic kidney dysplasia;HP:0002148|Hypophosphatemia;HP:0002897|Parathyroid adenoma
invasive mole	HP:0400008|Menometrorrhagia;HP:0011433|High maternal serum chorionic gonadotropin
carney-stratakis syndrome	HP:0002239|Gastrointestinal hemorrhage;HP:0007378|Gastrointestinal tract neoplasm;HP:0002668|Paragangliomas;HP:0002668|Paraganglioma;HP:0002015|Dysphagia;HP:0000365|Hearing impairment;HP:0002027|Abdominal pain;HP:0001824|Weight loss;HP:0006824|Cranial nerve paralysis;HP:0100723|Gastrointestinal stroma tumor;HP:0000360|Tinnitus;HP:0005214|Intestinal obstruction
glucocorticoid resistance	HP:0001297|Stroke;HP:0001061|Acne;HP:0008221|Adrenal hyperplasia;HP:0012378|Fatigue;HP:0000798|Oligospermia;HP:0000826|Precocious puberty;HP:0002924|Decreased circulating aldosterone level;HP:0000876|Oligomenorrhea;HP:0012030|Increased urinary cortisol level;HP:0030087|Abnormal testosterone level;HP:0000822|Hypertension;HP:0001943|Hypoglycemia;HP:0000062|Ambiguous genitalia;HP:0003154|Increased circulating ACTH level;HP:0002900|Hypokalemia;HP:0200114|Metabolic alkalosis;HP:0001578|Hypercortisolism;HP:0003118|Increased circulating cortisol level;HP:0010458|Female pseudohermaphroditism;HP:0000789|Infertility;HP:0002292|Frontal balding;HP:0001007|Hirsutism
renal cysts and diabetes syndrome	HP:0001263|Global developmental delay;HP:0012093|Abnormality of endocrine pancreas physiology;HP:0000365|Hearing impairment;HP:0000083|Renal insufficiency;HP:0000047|Hypospadias;HP:0001994|Renal Fanconi syndrome;HP:0100820|Glomerulopathy;HP:0000303|Mandibular prognathia;HP:0012873|Absent vas deferens;HP:0005584|Renal cell carcinoma;HP:0005692|Joint hyperflexibility;HP:0000104|Renal agenesis;HP:0012092|Abnormality of exocrine pancreas physiology;HP:0000952|Jaundice;HP:0000003|Multicystic kidney dysplasia;HP:0000813|Bicornuate uterus;HP:0100800|Aplasia/Hypoplasia of the pancreas;HP:0001397|Hepatic steatosis;HP:0002149|Hyperuricemia;HP:0002021|Pyloric stenosis;HP:0009715|Papillary cystadenoma of the epididymis;HP:0000085|Horseshoe kidney;HP:0001959|Polydipsia;HP:0001249|Intellectual disability;HP:0001919|Acute kidney injury;HP:0002910|Elevated hepatic transaminases;HP:0001369|Arthritis;HP:0000819|Diabetes mellitus;HP:0000821|Hypothyroidism
cednik syndrome	HP:0001263|Global developmental delay;HP:0001297|Stroke;HP:0002421|Poor head control;HP:0000496|Abnormality of eye movement;HP:0004322|Short stature;HP:0000093|Proteinuria;HP:0000135|Hypogonadism;HP:0001635|Congestive heart failure;HP:0001251|Ataxia;HP:0000276|Long face;HP:0009830|Peripheral neuropathy;HP:0000316|Hypertelorism;HP:0000164|Abnormality of the teeth;HP:0001273|Abnormality of the corpus callosum;HP:0000407|Sensorineural hearing impairment;HP:0001302|Pachygyria;HP:0000494|Downslanted palpebral fissures;HP:0000478|Abnormality of the eye;HP:0003134|Abnormality of peripheral nerve conduction;HP:0001250|Seizures;HP:0000457|Depressed nasal ridge;HP:0000252|Microcephaly;HP:0001284|Areflexia;HP:0000648|Optic atrophy;HP:0000268|Dolichocephaly;HP:0001249|Intellectual disability;HP:0000426|Prominent nasal bridge;HP:0000504|Abnormality of vision;HP:0002126|Polymicrogyria;HP:0000100|Nephrotic syndrome;HP:0000400|Macrotia;HP:0007435|Diffuse palmoplantar keratoderma;HP:0008064|Ichthyosis
glutaryl-coa dehydrogenase deficiency	HP:0002013|Vomiting;HP:0000239|Large fontanelles;HP:0000496|Abnormality of eye movement;HP:0008046|Abnormality of the retinal vasculature;HP:0100543|Cognitive impairment;HP:0100660|Dyskinesia;HP:0002637|Cerebral ischemia;HP:0001266|Choreoathetosis;HP:0002376|Developmental regression;HP:0001373|Joint dislocation;HP:0001257|Spasticity;HP:0002167|Neurological speech impairment;HP:0001332|Dystonia;HP:0008872|Feeding difficulties in infancy;HP:0001250|Seizures;HP:0002071|Abnormality of extrapyramidal motor function;HP:0001942|Metabolic acidosis;HP:0001288|Gait disturbance;HP:0000256|Macrocephaly;HP:0002301|Hemiplegia;HP:0001259|Coma;HP:0100022|Abnormality of movement;HP:0001999|Abnormal facial shape;HP:0002076|Migraine;HP:0001298|Encephalopathy;HP:0002321|Vertigo;HP:0000737|Irritability;HP:0001252|Muscular hypotonia;HP:0011220|Prominent forehead;HP:0002170|Intracranial hemorrhage;HP:0002047|Malignant hyperthermia
lymphoid interstitial pneumonia	HP:0001648|Cor pulmonale;HP:0001217|Digital clubbing;HP:0001650|Valvular aortic stenosis;HP:0006527|Lymphoid interstitial pneumonia
classic galactosemia	HP:0000518|Cataract;HP:0001824|Weight loss;HP:0100806|Sepsis;HP:0001260|Dysarthria;HP:0001251|Ataxia;HP:0009088|Speech articulation difficulties;HP:0001254|Lethargy;HP:0001943|Hypoglycemia;HP:0002017|Nausea and vomiting;HP:0000952|Jaundice;HP:0011968|Feeding difficulties;HP:0001288|Gait disturbance;HP:0001399|Hepatic failure;HP:0100022|Abnormality of movement;HP:0000868|Decreased fertility in females;HP:0000939|Osteoporosis;HP:0004915|Impairment of galactose metabolism;HP:0001508|Failure to thrive;HP:0001249|Intellectual disability;HP:0001892|Abnormal bleeding;HP:0000137|Abnormality of the ovary;HP:0011098|Speech apraxia;HP:0001337|Tremor;HP:0003811|Neonatal death
neovascular glaucoma	HP:0007850|Retinal vascular proliferation;HP:3000032|Abnormality of central retinal artery;HP:0000553|Abnormality of the uvea;HP:0030532|Visual acuity test abnormality;HP:0007906|Increased intraocular pressure;HP:0000593|Abnormality of the anterior chamber;HP:0012636|Retinal vein occlusion;HP:0000572|Visual loss;HP:0000613|Photophobia;HP:0004329|Abnormality of the posterior segment of the globe;HP:0000541|Retinal detachment;HP:0000587|Abnormality of the optic nerve;HP:0200026|Ocular pain;HP:0012040|Corneal stromal edema;HP:0000501|Glaucoma;HP:0011497|Iris neovascularization
desbuquois syndrome	HP:0008873|Disproportionate short-limb short stature;HP:0000470|Short neck;HP:0000520|Proptosis;HP:0003366|Abnormality of the femoral neck or head region;HP:0001006|Hypotrichosis;HP:0001629|Ventricular septal defect;HP:0000592|Blue sclerae;HP:0005280|Depressed nasal bridge;HP:0002999|Patellar dislocation;HP:0005692|Joint hyperflexibility;HP:0010318|Aplasia/Hypoplasia of the abdominal wall musculature;HP:0002816|Genu recurvatum;HP:0002650|Scoliosis;HP:0003042|Elbow dislocation;HP:0004209|Clinodactyly of the 5th finger;HP:0200055|Small hand;HP:0005616|Accelerated skeletal maturation;HP:0001249|Intellectual disability;HP:0002974|Radioulnar synostosis;HP:0002812|Coxa vara;HP:0001591|Bell-shaped thorax;HP:0003510|Severe short stature;HP:0000463|Anteverted nares;HP:0000499|Abnormality of the eyelashes;HP:0000368|Low-set, posteriorly rotated ears;HP:0100490|Camptodactyly of finger;HP:0000501|Glaucoma;HP:0000944|Abnormality of the metaphyses;HP:0002673|Coxa valga
east syndrome	HP:0001263|Global developmental delay;HP:0001250|Seizures;HP:0001251|Ataxia;HP:0002342|Intellectual disability, moderate;HP:0001508|Failure to thrive;HP:0012103|Abnormality of the mitochondrion;HP:0000407|Sensorineural hearing impairment;HP:0000091|Abnormality of the renal tubule
megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0000028|Cryptorchidism;HP:0003270|Abdominal distention;HP:0100771|Hypoperistalsis;HP:0000003|Multicystic kidney dysplasia;HP:0100806|Sepsis;HP:0001537|Umbilical hernia;HP:0002564|Malformation of the heart and great vessels;HP:0000072|Hydroureter;HP:0001539|Omphalocele;HP:0002017|Nausea and vomiting;HP:0001522|Death in infancy;HP:0001561|Polyhydramnios;HP:0002566|Intestinal malrotation;HP:0004388|Microcolon;HP:0011024|Abnormality of the gastrointestinal tract;HP:0100544|Neoplasm of the heart;HP:0000021|Megacystis
persistent mullerian duct syndrome	HP:0000022|Abnormality of male internal genitalia;HP:0000023|Inguinal hernia;HP:0008689|Bilateral cryptorchidism;HP:0003117|Abnormality of circulating hormone level;HP:0003251|Male infertility
andersen syndrome	HP:0010049|Metacarpal hypoplasia;HP:0000677|Failure of development of more than six teeth;HP:0001507|Abnormal growth;HP:0004467|Pit in front of the ear;HP:0006335|Delayed loss of primary teeth;HP:0000581|Blepharophimosis;HP:0001770|Toe syndactyly;HP:0000316|Increased distance between eye sockets;HP:0000696|Delayed eruption of secondary dentition;HP:0006297|Hypoplasia of tooth enamel;HP:0005478|Large frontal sinus;HP:0004209|Clinodactyly of fifth digit;HP:0000369|Low-set ears;HP:0004279|Hypoplastic hands;HP:0003779|Antegonial notching of mandible;HP:0000175|Palatoschisis;HP:0001864|Clinodactyly of the 5th toe;HP:0003778|Short mandibular rami;HP:0000324|Asymmetry of face;HP:0000252|Small head circumference;HP:0000327|Maxillary micrognathia;HP:0000218|Increased palatal height;HP:0012745|Decreased height of palpebral fissure;HP:0001279|Syncope;HP:0002750|Delayed bone maturation;HP:0001657|Prolonged QT interval;HP:0001388|Joint laxity;HP:0002650|Scoliosis;HP:0000337|Increased bitemporal dimension;HP:0200055|Small hand;HP:0008153|Hypokalemic periodic paresis;HP:0001962|Palpitations;HP:0003100|Slender long bone;HP:0000272|Depressed malar region;HP:0009803|Hypoplastic/small phalanges of the hand;HP:0000219|Decreased height of upper lip vermilion;HP:0010743|Shortened metatarsals;HP:0001773|Small feet;HP:0000716|Depression;HP:0001328|Specific learning disability;HP:0000325|Triangular face;HP:0003691|Scapula alata;HP:0000414|Bulbous nose;HP:0001156|Brachydactyly;HP:0005147|Bidirectional ventricular ectopy
very long chain acyl-coa dehydrogenase deficiency	HP:0001252|Hypotonia;HP:0002240|Enlarged liver;HP:0001958|Nonketotic hypoglycemia;HP:0001645|Sudden cardiac death;HP:0008305|Exercise-induced myoglobinuria;HP:0003236|Elevated creatine kinase;HP:0003215|Dicarboxylic aciduria;HP:0003738|Muscle pain on exercise;HP:0001254|Lethargy;HP:0003552|Muscle stiffness;HP:0001324|Muscular weakness;HP:0002789|Increased respiratory rate or depth of breathing;HP:0001397|Hepatic steatosis;HP:0001404|Hepatocellular necrosis;HP:0001639|Hypertrophic cardiomyopathy;HP:0002013|Emesis;HP:0003234|Decreased plasma carnitine;HP:0009045|Exercise-induced rhabdomyolysis
fetal akinesia deformation sequence	HP:0000028|Cryptorchidism;HP:0002089|Pulmonary hypoplasia;HP:0001059|Pterygium;HP:0000358|Posteriorly rotated ears;HP:0003700|Generalized amyotrophy;HP:0005280|Depressed nasal bridge;HP:0001262|Excessive daytime somnolence;HP:0005245|Intestinal hypoplasia;HP:0002375|Hypokinesia;HP:0000347|Micrognathia;HP:0000316|Hypertelorism;HP:0001511|Intrauterine growth retardation;HP:0002828|Multiple joint contractures;HP:0002804|Arthrogryposis multiplex congenita;HP:0000476|Cystic hygroma;HP:0000175|Cleft palate;HP:0002093|Respiratory insufficiency;HP:0002650|Scoliosis;HP:0001305|Dandy-Walker malformation;HP:0001989|Fetal akinesia sequence;HP:0100490|Camptodactyly of finger;HP:0002304|Akinesia;HP:0010489|Absent palmar crease;HP:0001561|Polyhydramnios
extramammary paget disease	HP:0000976|Eczematoid dermatitis;HP:0002664|Neoplasia
congenital bilateral absence of vas deferens	HP:0000798|Oligospermia;HP:0000027|Azoospermia;HP:0012873|Absent vas deferens;HP:0003251|Male infertility;HP:0011962|Obstructive azoospermia;HP:0012210|Abnormal renal morphology
late infantile neuronal ceroid lipofuscinosis	HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0002059|Cerebral atrophy;HP:0009023|Abdominal wall muscle weakness;HP:0001251|Ataxia;HP:0000504|Abnormality of vision;HP:0001336|Myoclonus;HP:0000488|Retinopathy;HP:0000649|Abnormality of visual evoked potentials;HP:0002376|Developmental regression;HP:0000512|Abnormal electroretinogram;HP:0000478|Abnormality of the eye
marburg hemorrhagic fever	HP:0002239|Gastrointestinal hemorrhage;HP:0012378|Fatigue;HP:0001733|Pancreatitis;HP:0002027|Abdominal pain;HP:0400008|Menometrorrhagia;HP:0001824|Weight loss;HP:0002829|Arthralgia;HP:0003326|Myalgia;HP:0001873|Thrombocytopenia;HP:0001882|Leukopenia;HP:0001254|Lethargy;HP:0002014|Diarrhea;HP:0011896|Subconjunctival hemorrhage;HP:0002017|Nausea and vomiting;HP:0100776|Recurrent pharyngitis;HP:0000790|Hematuria;HP:0000952|Jaundice;HP:0001945|Fever;HP:0012735|Cough;HP:0000988|Skin rash;HP:0001892|Abnormal bleeding;HP:0002910|Elevated hepatic transaminases;HP:0100749|Chest pain;HP:0002315|Headache
pseudohypoaldosteronism type 2	HP:0007215|Periodic hyperkalemic paralysis;HP:0002153|Elevated serum potassium levels;HP:0000682|Abnormality of dental enamel;HP:0001324|Muscle weakness;HP:0008242|Pseudohypoaldosteronism;HP:0004322|Short stature;HP:0000822|Hypertension;HP:0002017|Nausea and vomiting;HP:0000164|Abnormality of the teeth;HP:0003768|Periodic paralysis;HP:0001995|Hyperchloremic acidosis;HP:0002153|Hyperkalemia;HP:0001510|Growth delay
rigid spine syndrome	HP:0003306|Spinal rigidity;HP:0001611|Hypernasal speech;HP:0002421|Poor head control;HP:0002111|Restrictive respiratory insufficiency';HP:0003327|Axial muscle weakness;HP:0004322|Stature below 3rd percentile;HP:0002792|Decreased vital capacity;HP:0003557|Increased fiber size variation;HP:0003324|Muscle weakness, diffuse;HP:0002877|Nocturnal under breathing;HP:0001270|Motor retardation;HP:0001252|Hypotonia;HP:0001547|Abnormality of the rib cage;HP:0000218|Increased palatal height;HP:0002650|Scoliosis;HP:0001508|Weight faltering;HP:0005991|Limited cervical flexion;HP:0003560|Muscular dystrophy;HP:0003700|Diffuse muscle wasting;HP:0001371|Flexion contractures of joints;HP:0003787|Type 1 and type 2 muscle fiber minicore regions;HP:0001620|High pitched voice;HP:0010628|Facial palsy, unilateral or bilateral
cutaneous leukocytoclastic angiitis	HP:0000988|Skin rash;HP:0001025|Urticaria;HP:0002829|Arthralgia;HP:0010783|Erythema;HP:0000965|Cutis marmorata;HP:0002633|Vasculitis;HP:0003326|Myalgia;HP:0000163|Abnormality of the oral cavity;HP:0001482|Subcutaneous nodule;HP:0001945|Fever;HP:0100758|Gangrene;HP:0000979|Purpura;HP:0200034|Papule;HP:0001581|Recurrent skin infections
maculopapular cutaneous mastocytosis	HP:0012733|Macule;HP:0002094|Dyspnea;HP:0200035|Skin plaque;HP:0200151|Cutaneous mastocytosis;HP:0002014|Diarrhea;HP:0001695|Cardiac arrest;HP:0100585|Telangiectasia of the skin;HP:0001034|Hypermelanotic macule;HP:0002017|Nausea and vomiting;HP:0000989|Pruritus;HP:0012384|Rhinitis;HP:0200036|Skin nodule;HP:0200034|Papule;HP:0002315|Headache
primary familial polycythemia	HP:0001892|Abnormal bleeding;HP:0002829|Arthralgia;HP:0002094|Dyspnea;HP:0000421|Epistaxis;HP:0002321|Vertigo;HP:0002875|Exertional dyspnea;HP:0004936|Venous thrombosis;HP:0012378|Fatigue;HP:0002027|Abdominal pain;HP:0001901|Polycythemia;HP:0000989|Pruritus;HP:0011902|Abnormal hemoglobin;HP:0001907|Thromboembolism;HP:0012735|Cough;HP:0002315|Headache
hypoglossia-hypodactyly syndrome	HP:0000044|Hypogonadotrophic hypogonadism;HP:0000160|Narrow mouth;HP:0008947|Hypotonia early;HP:0000577|Exotropia;HP:0000298|Lack of facial expression;HP:0002023|Anal atresia;HP:0009813|Upper limb phocomelia;HP:0000347|Hypoplasia of mandible;HP:0000932|Abnormality of the posterior fossa;HP:0005914|Metacarpal aplasia/hypoplasia;HP:0009466|Radially deviated phalanges;HP:0000316|Increased distance between eye sockets;HP:0008734|Decreased testicular size;HP:0000565|Inward turning of one or both eyes;HP:0000218|High palate;HP:0002370|Poor coordination;HP:0002098|Respiratory distress;HP:0010295|Aplasia/Hypoplasia of the tongue;HP:0000470|Decreased cervical height;HP:0001156|Brachydactyly syndrome;HP:0001543|Gastroschisis;HP:0000286|Palpebronasal fold;HP:0001171|Split hand;HP:0000347|Micrognathia;HP:0006101|Finger syndactyly;HP:0010669|Cheekbone underdevelopment;HP:0000506|Telecanthus;HP:0001491|Congenital fibrosis of the extraocular muscles;HP:0000377|Malformation of auricle;HP:0001762|Talipes equinovarus;HP:0002312|Clumsiness;HP:0001291|Abnormality of the cranial nerves;HP:0000668|Hypodontia;HP:0002167|Neurological speech impairment;HP:0000164|Abnormality of the teeth;HP:0001522|Death in infancy;HP:0005235|Jejunal atresia;HP:0030084|Clinodactyly;HP:0001270|Motor retardation;HP:0002804|Arthrogryposis multiplex congenita;HP:0008872|Feeding difficulties in infancy;HP:0000750|Late-onset speech development;HP:0000054|Short penis;HP:0000175|Cleft palate;HP:0000324|Facial asymmetry;HP:0001288|Gait disturbance;HP:0001171|Hand ectrodactyly;HP:0009816|Hypoplasia involving bones of the lower limbs;HP:0002075|Dysdiadochokinesis;HP:0000218|Increased palatal height;HP:0005280|Flat, nasal bridge;HP:0001608|Voice abnormality;HP:0002365|Hypoplasia of the brainstem;HP:0002015|Swallowing difficulty;HP:0000431|Wide nasal bridge;HP:0009776|Adactyly;HP:0001188|Clenched hands;HP:0001249|Intellectual disability;HP:0006265|Aplasia/Hypoplasia of fingers;HP:0001597|Abnormality of the nail;HP:0001231|Abnormality of the fingernails;HP:0012385|Camptodactyly;HP:0001159|Webbed fingers or toes;HP:0009803|Hypoplastic/small phalanges of the hand;HP:0002644|Abnormal shape of pelvic girdle bone;HP:0000568|Abnormally small globe of eye;HP:0001763|Pes planus;HP:0000193|Uvula bifida;HP:0001739|Abnormality of the nasopharynx;HP:0001256|Mild mental retardation;HP:0001260|Dysarthric speech;HP:0001349|Facial paresis, bilateral;HP:0001156|Brachydactyly;HP:0009882|Short distal phalanx of finger
alpha-methylacetoacetic aciduria	HP:0005974|Episodic ketoacidosis;HP:0002013|Emesis;HP:0001249|Mental retardation;HP:0001944|Dehydration
tyrosine transaminase deficiency	HP:0003161|4-Hydroxyphenylpyruvic aciduria;HP:0007812|Herpetiform corneal ulcers;HP:0000951|dermatopathy;HP:0001510|Growth deficiency;HP:0003231|Increased tyrosine in blood;HP:0001249|Mental retardation
reticular dysgenesia	HP:0004315|IgG deficiency;HP:0005541|Congenital agranulocytosis;HP:0000777|Thymic hypoplasia;HP:0008161|Absent leukocyte alkaline phosphatase;HP:0001888|Lymphocytopenia;HP:0005523|Lymphoproliferative disorder;HP:0012133|Erythroid hypoplasia;HP:0005354|Absent cellular immunity
pulmonary venous return anomaly	HP:0009884|Tapered distal phalanges of finger;HP:0002205|Frequent respiratory infections;HP:0002092|Pulmonary artery hypertension;HP:0005160|Total anomalous pulmonary venous return;HP:0008386|Aplasia/Hypoplasia of the nails
adult syndrome	HP:0001480|Freckling;HP:0002213|Fine hair;HP:0001770|Toe syndactyly;HP:0002557|Hypoplastic nipples;HP:0000963|Thin skin;HP:0006101|Finger syndactyly;HP:0006482|Abnormality of dental morphology;HP:0000164|Abnormality of the teeth;HP:0200042|Skin ulcer;HP:0002561|Absent nipple;HP:0000271|Abnormality of the face;HP:0100797|Toenail dysplasia;HP:0003187|Breast hypoplasia;HP:0001803|Nail pits;HP:0002209|Sparse scalp hair;HP:0100798|Fingernail dysplasia;HP:0000431|Wide nasal bridge;HP:0000995|Melanocytic nevus;HP:0001597|Abnormality of the nail;HP:0000426|Prominent nasal bridge;HP:0000579|Nasolacrimal duct obstruction;HP:0001596|Alopecia;HP:0000958|Dry skin;HP:0001839|Split foot
ledderhose disease	HP:0100679|Lack of skin elasticity;HP:0001482|Subcutaneous nodule;HP:0003401|Paresthesia;HP:0002829|Arthralgia;HP:0009830|Peripheral neuropathy
opitz g/bbb syndrome	HP:0001263|Global developmental delay;HP:0005487|Prominent metopic ridge;HP:0000239|Large fontanelles;HP:0000600|Abnormality of the pharynx;HP:0000767|Pectus excavatum;HP:0000047|Hypospadias;HP:0000506|Telecanthus;HP:0000369|Low-set ears;HP:0000316|Hypertelorism;HP:0000668|Hypodontia;HP:0000407|Sensorineural hearing impairment;HP:0000494|Downslanted palpebral fissures;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0002093|Respiratory insufficiency;HP:0001608|Abnormality of the voice;HP:0000431|Wide nasal bridge;HP:0001249|Intellectual disability;HP:0000202|Oral cleft;HP:0000463|Anteverted nares;HP:0011220|Prominent forehead;HP:0000768|Pectus carinatum;HP:0011069|Increased number of teeth
keratosis, seborrheic	HP:0200043|Verrucae
ichthyosis, x linked	HP:0000028|Cryptorchidism;HP:0001939|Laboratory abnormality;HP:0007759|Cloudy cornea;HP:0007431|Congenital ichthyosis;HP:0008064|Ichthyosis;HP:0002664|Neoplasia
anemia, pernicious	HP:0001889|Megaloblastic anemia;HP:0200118|Malabsorption of Vitamin B12
paraneoplastic pemphigus	HP:0100522|Thymoma;HP:0012191|B-cell lymphoma;HP:0200097|Oral mucosal blisters;HP:0000155|Oral ulcer;HP:0100242|Sarcoma;HP:0200041|Skin erosion;HP:0008066|Abnormal blistering of the skin
acquired hemophilia	HP:0001892|Abnormal bleeding;HP:0005261|Joint hemorrhage;HP:0002239|Gastrointestinal hemorrhage;HP:0003645|Prolonged partial thromboplastin time;HP:0003125|Reduced factor VIII activity;HP:0000790|Hematuria;HP:0011891|Post-partum hemorrhage;HP:0002170|Intracranial hemorrhage;HP:0030057|Autoimmune antibody positivity;HP:0012233|Intramuscular hematoma;HP:0001903|Anemia;HP:0001933|Subcutaneous hemorrhage
primary peritoneal carcinoma	HP:0003270|Abdominal distention;HP:0002664|Neoplasm;HP:0002019|Constipation;HP:0002027|Abdominal pain;HP:0002017|Nausea and vomiting;HP:0002586|Peritonitis
hypocomplementemic urticarial vasculitis	HP:0002094|Dyspnea;HP:0002202|Pleural effusion;HP:0001654|Abnormality of the heart valves;HP:0100021|Cerebral palsy;HP:0002027|Abdominal pain;HP:0002960|Autoimmunity;HP:0001287|Meningitis;HP:0001373|Joint dislocation;HP:0000093|Proteinuria;HP:0001698|Pericardial effusion;HP:0000083|Renal insufficiency;HP:0002716|Lymphadenopathy;HP:0002091|Restrictive lung disease;HP:0003326|Myalgia;HP:0100820|Glomerulopathy;HP:0001251|Ataxia;HP:0100533|Inflammatory abnormality of the eye;HP:0002097|Emphysema;HP:0002014|Diarrhea;HP:0006536|Obstructive lung disease;HP:0100326|Immunologic hypersensitivity;HP:0009830|Peripheral neuropathy;HP:0100534|Episcleritis;HP:0002017|Nausea and vomiting;HP:0001315|Reduced tendon reflexes;HP:0000790|Hematuria;HP:0000407|Sensorineural hearing impairment;HP:0001541|Ascites;HP:0002105|Hemoptysis;HP:0004374|Hemiplegia/hemiparesis;HP:0001250|Seizures;HP:0000554|Uveitis;HP:0000763|Sensory neuropathy;HP:0002665|Lymphoma;HP:0007400|Irregular hyperpigmentation;HP:0011944|Small vessel vasculitis;HP:0004431|Complement deficiency;HP:0002240|Hepatomegaly;HP:0012735|Cough;HP:0000988|Skin rash;HP:0001744|Splenomegaly;HP:0001369|Arthritis;HP:0000509|Conjunctivitis;HP:0000989|Pruritus;HP:0006824|Cranial nerve paralysis;HP:0100665|Angioedema;HP:0002718|Recurrent bacterial infections
parastremmatic dwarfism	HP:0001371|Flexion contractures of joints;HP:0002808|Gibbus deformity;HP:0002650|Scoliosis;HP:0003510|Proportionate dwarfism;HP:0002857|Genu valgum;HP:0000470|Decreased cervical height
epispadias	HP:0000020|Urinary incontinence;HP:0030911|Bifid clitoris;HP:0008648|Anteriorly displaced urethral meatus;HP:0000039|Epispadias;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0000076|Vesicoureteral reflux
diastematomyelia	HP:0100563|Diastomatomyelia;HP:0002650|Scoliosis;HP:0002230|Generalized hirsutism;HP:0000707|Neurological abnormality
birdshot chorioretinopathy	HP:0000518|Cataract;HP:0008046|Abnormality of the retinal vasculature;HP:0000541|Retinal detachment;HP:0000543|Optic disc pallor;HP:0000572|Visual loss;HP:0007843|Attenuation of retinal blood vessels;HP:0000622|Blurred vision;HP:0030530|Arcuate scotoma;HP:0011531|Hyalitis;HP:0007906|Increased intraocular pressure;HP:0100533|Inflammatory abnormality of the eye;HP:0000532|Chorioretinal abnormality;HP:0100832|Vitreous floaters;HP:0007722|Retinal pigment epithelial atrophy;HP:0030644|Blind-spot enlargment;HP:0030329|Retinal thinning;HP:0000505|Poor vision;HP:0200056|Macular scarring;HP:0011531|Vitritis;HP:0011505|Cystoid macular edema;HP:0012123|Posterior uveitis;HP:0000610|Abnormality of the choroid;HP:0011506|Choroidal neovascularization of the macula;HP:0000613|Photophobia;HP:0030609|Photoreceptor layer loss on macular OCT;HP:0100014|Epiretinal membrane;HP:0011508|Macular hole
dyschromatosis universalis	HP:0012733|Macule;HP:0005590|Spotty hypopigmentation;HP:0001480|Freckling;HP:0000992|Cutaneous photosensitivity;HP:0001053|Hypopigmented skin patches;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0001034|Hypermelanotic macule;HP:0007565|Multiple cafe-au-lait spots
fetal hydantoin syndrome	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0003196|Short nose;HP:0004322|Short stature;HP:0000474|Thickened nuchal skin fold;HP:0007477|Abnormal dermatoglyphics;HP:0000232|Everted lower lip vermilion;HP:0000508|Ptosis;HP:0000154|Wide mouth;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0001511|Intrauterine growth retardation;HP:0002208|Coarse hair;HP:0000048|Bifid scrotum;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0002664|Neoplasm;HP:0000457|Depressed nasal ridge;HP:0000252|Microcephaly;HP:0006610|Wide intermamillary distance;HP:0001626|Abnormality of the cardiovascular system;HP:0002162|Low posterior hairline;HP:0001199|Triphalangeal thumb;HP:0000364|Hearing abnormality;HP:0000235|Abnormality of the fontanelles or cranial sutures;HP:0000368|Low-set, posteriorly rotated ears;HP:0000377|Abnormality of the pinna;HP:0001804|Hypoplastic fingernail;HP:0100790|Hernia;HP:0009882|Short distal phalanx of finger
dracunculiasis	HP:0000988|Skin rash;HP:0001371|Flexion contracture;HP:0100658|Cellulitis;HP:0001369|Arthritis;HP:0002014|Diarrhea;HP:0011134|Low-grade fever;HP:0100326|Immunologic hypersensitivity;HP:0100838|Recurrent cutaneous abscess formation;HP:0001482|Subcutaneous nodule;HP:0002017|Nausea and vomiting;HP:0000989|Pruritus;HP:0100758|Gangrene;HP:0200042|Skin ulcer;HP:0001376|Limitation of joint mobility;HP:0008066|Abnormal blistering of the skin
transaldolase deficiency	HP:0001263|Global developmental delay;HP:0002240|Enlarged liver;HP:0001395|Hepatic fibrosis;HP:0000233|Decreased volume of lip vermillion;HP:0001562|Oligohydramnios;HP:0001009|Telangiectasia;HP:0002002|Increased depth of philtrum;HP:0001629|Ventricular septal defects;HP:0002099|Asthma;HP:0001631|Atrial septal defect;HP:0000969|Edema;HP:0001789|Hydrops fetalis;HP:0001433|Hepatosplenomegaly;HP:0001873|Thrombocytopenia;HP:0001876|Low blood cell count;HP:0000369|Low-set ears;HP:0008665|Clitoromegaly;HP:0001680|Coarctation of aorta;HP:0001394|Hepatic cirrhosis;HP:0001413|Micronodular cirrhosis;HP:0001433|Enlarged liver and spleen;HP:0001903|Anemia;HP:0100678|Premature skin wrinkling;HP:0000077|Abnormality of the kidney;HP:0001518|Small for gestational age;HP:0001643|Persistent ductus arteriosus;HP:0005280|Flat, nasal bridge;HP:0000260|Wide anterior fontanel;HP:0000154|Large mouth;HP:0001410|Decreased liver function;HP:0012202|Increased serum bile acid concentration;HP:0001508|Weight faltering;HP:0010903|Abnormality of glutamine metabolism;HP:0001999|Abnormal facial shape;HP:0001873|Low platelet count;HP:0001511|Prenatal onset growth retardation;HP:0000056|Abnormality of the clitoris;HP:0002795|Functional respiratory abnormality;HP:0000322|Short philtrum;HP:0001744|Splenomegaly;HP:0001394|Cirrhosis;HP:0200128|Biventricular hypertrophy;HP:0001009|Telangiectases;HP:0000325|Triangular face;HP:0002033|Poor suck;HP:0000664|Unibrow;HP:0001655|Patent foramen ovale
fryns syndrome	HP:0000028|Cryptorchidism;HP:0001274|Agenesis of corpus callosum;HP:0000470|Short neck;HP:0002089|Pulmonary hypoplasia;HP:0000568|Microphthalmia;HP:0002023|Anal atresia;HP:0002119|Ventriculomegaly;HP:0000474|Thickened nuchal skin fold;HP:0002251|Aganglionic megacolon;HP:0000218|High palate;HP:0000337|Broad forehead;HP:0002247|Duodenal atresia;HP:0000047|Hypospadias;HP:0000347|Micrognathia;HP:0000154|Wide mouth;HP:0000126|Hydronephrosis;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0006709|Aplasia/Hypoplasia of the nipples;HP:0001561|Polyhydramnios;HP:0001636|Tetralogy of Fallot;HP:0000774|Narrow chest;HP:0002120|Cerebral cortical atrophy;HP:0010804|Tented upper lip vermilion;HP:0011344|Severe global developmental delay;HP:0012303|Abnormality of the aortic arch;HP:0000076|Vesicoureteral reflux;HP:0100335|Non-midline cleft lip;HP:0002020|Gastroesophageal reflux;HP:0001250|Seizures;HP:0000175|Cleft palate;HP:0000003|Multicystic kidney dysplasia;HP:0007957|Corneal opacity;HP:0001539|Omphalocele;HP:0000813|Bicornuate uterus;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0001679|Abnormality of the aorta;HP:0001305|Dandy-Walker malformation;HP:0001249|Intellectual disability;HP:0006610|Wide intermamillary distance;HP:0000161|Median cleft lip;HP:0000463|Anteverted nares;HP:0002566|Intestinal malrotation;HP:0000368|Low-set, posteriorly rotated ears;HP:0000280|Coarse facial features;HP:0001804|Hypoplastic fingernail;HP:0001671|Abnormality of the cardiac septa;HP:0004397|Ectopic anus;HP:0009882|Short distal phalanx of finger;HP:0000776|Congenital diaphragmatic hernia
woolly hair	HP:0000615|Abnormality of the pupil;HP:0000479|Abnormality of the retina;HP:0000518|Cataract;HP:0010719|Abnormality of hair texture;HP:0005599|Hypopigmentation of hair;HP:0000486|Strabismus;HP:0002217|Slow-growing hair;HP:0002213|Fine hair;HP:0002231|Sparse body hair;HP:0002299|Brittle hair;HP:0005338|Sparse lateral eyebrow;HP:0002224|Woolly hair
primary effusion lymphoma	HP:0003270|Abdominal distention;HP:0002094|Dyspnea;HP:0002202|Pleural effusion;HP:0002721|Immunodeficiency;HP:0012191|B-cell lymphoma;HP:0002027|Abdominal pain;HP:0002585|Abnormality of the peritoneum;HP:0001698|Pericardial effusion
antisynthetase syndrome	HP:0002015|Dysphagia;HP:0002960|Autoimmunity;HP:0100585|Telangiectasia of the skin;HP:0001659|Aortic regurgitation;HP:0001373|Joint dislocation;HP:0000217|Xerostomia;HP:0002205|Recurrent respiratory infections;HP:0003326|Myalgia;HP:0003236|Elevated serum creatine phosphokinase;HP:0002206|Pulmonary fibrosis;HP:0002664|Neoplasm;HP:0002093|Respiratory insufficiency;HP:0001608|Abnormality of the voice;HP:0003457|EMG abnormality;HP:0001945|Fever;HP:0012819|Myocarditis;HP:0012735|Cough;HP:0100614|Myositis;HP:0000988|Skin rash;HP:0001097|Keratoconjunctivitis sicca;HP:0001324|Muscle weakness;HP:0006530|Interstitial pulmonary disease;HP:0100679|Lack of skin elasticity;HP:0100749|Chest pain;HP:0000989|Pruritus;HP:0001252|Muscular hypotonia;HP:0002092|Pulmonary arterial hypertension;HP:0000969|Edema
lymphedema-distichiasis syndrome	HP:0000518|Cataract;HP:0100244|Fibrosarcoma;HP:0000010|Recurrent urinary tract infections;HP:0000093|Proteinuria;HP:0001970|Tubulointerstitial nephritis;HP:0004930|Abnormality of the pulmonary vasculature;HP:0000075|Renal duplication;HP:0000508|Ptosis;HP:0100820|Glomerulopathy;HP:0002564|Malformation of the heart and great vessels;HP:0009745|Spinalarachnoid cyst;HP:0000465|Webbed neck;HP:0200020|Corneal erosion;HP:0000204|Cleft upper lip;HP:0001643|Patent ductus arteriosus;HP:0003550|Predominantly lower limb lymphedema;HP:0000175|Cleft palate;HP:0000656|Ectropion;HP:0011675|Arrhythmia;HP:0009743|Distichiasis;HP:0001324|Muscle weakness;HP:0000613|Photophobia;HP:0000819|Diabetes mellitus;HP:0000509|Conjunctivitis;HP:0002619|Varicose veins;HP:0001581|Recurrent skin infections
metatropic dysplasia	HP:0000518|Cataract;HP:0003103|Abnormal cortical bone morphology;HP:0100818|Long thorax;HP:0005280|Depressed nasal bridge;HP:0002826|Halberd-shaped pelvis;HP:0008434|Hypoplastic cervical vertebrae;HP:0002652|Skeletal dysplasia;HP:0000774|Narrow chest;HP:0000772|Abnormality of the ribs;HP:0005108|Abnormality of the intervertebral disk;HP:0000175|Cleft palate;HP:0003312|Abnormal form of the vertebral bodies;HP:0002650|Scoliosis;HP:0002808|Kyphosis;HP:0004209|Clinodactyly of the 5th finger;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0003510|Severe short stature;HP:0000348|High forehead;HP:0001387|Joint stiffness;HP:0003336|Abnormal enchondral ossification;HP:0100490|Camptodactyly of finger;HP:0000368|Low-set, posteriorly rotated ears;HP:0000238|Hydrocephalus;HP:0100670|Rough bone trabeculation;HP:0000944|Abnormality of the metaphyses;HP:0002983|Micromelia
dentin dysplasia	HP:0000682|Abnormality of dental enamel;HP:0100777|Exostoses;HP:0006482|Abnormality of dental morphology;HP:0011001|Increased bone mineral density
perry syndrome	HP:0002071|Abnormality of extrapyramidal motor function;HP:0001337|Tremor;HP:0000741|Apathy;HP:0002615|Hypotension;HP:0000716|Depression;HP:0000726|Dementia;HP:0001824|Weight loss;HP:0001300|Parkinsonism;HP:0007110|Central hypoventilation;HP:0002360|Sleep disturbance;HP:0000751|Personality changes
glucagonoma	HP:0002239|Gastrointestinal hemorrhage;HP:0001438|Abnormality of the abdomen;HP:0002019|Constipation;HP:0001824|Weight loss;HP:0000845|Growth hormone excess;HP:0012432|Chronic fatigue;HP:0005214|Intestinal obstruction;HP:0001031|Subcutaneous lipoma;HP:0010280|Stomatitis;HP:0002014|Diarrhea;HP:0000837|Increased circulating gonadotropin level;HP:0002017|Nausea and vomiting;HP:0000206|Glossitis;HP:0001895|Normochromic anemia;HP:0012334|Extrahepatic cholestasis;HP:0002574|Episodic abdominal pain;HP:0008200|Primary hyperparathyroidism;HP:0001541|Ascites;HP:0008066|Abnormal blistering of the skin;HP:0008256|Adrenocortical adenoma;HP:0001406|Intrahepatic cholestasis;HP:0002893|Pituitary adenoma;HP:0002240|Hepatomegaly;HP:0001578|Hypercortisolism;HP:0000820|Abnormality of the thyroid gland;HP:0000988|Skin rash;HP:0001927|Acanthocytosis;HP:0004396|Poor appetite;HP:0002570|Steatorrhea;HP:0003072|Hypercalcemia;HP:0001046|Intermittent jaundice;HP:0000870|Prolactin excess;HP:0002894|Neoplasm of the pancreas;HP:0000819|Diabetes mellitus;HP:0000716|Depression;HP:0030145|Lack of bowel sounds;HP:0000989|Pruritus;HP:0030895|Abnormal gastrointestinal motility;HP:0001907|Thromboembolism;HP:0002039|Anorexia;HP:0002897|Parathyroid adenoma
jackson-weiss syndrome	HP:0001783|Broad metatarsal;HP:0001841|Preaxial foot polydactyly;HP:0000262|Turricephaly;HP:0000520|Proptosis;HP:0011800|Midface retrusion;HP:0000303|Mandibular prognathia;HP:0002007|Frontal bossing;HP:0000327|Hypoplasia of the maxilla;HP:0004691|2-3 toe syndactyly;HP:0000444|Convex nasal ridge;HP:0000486|Strabismus;HP:0002991|Abnormality of the fibula;HP:0000316|Hypertelorism;HP:0001770|Toe syndactyly;HP:0009773|Symphalangism affecting the phalanges of the hand;HP:0009891|Underdeveloped supraorbital ridges;HP:0001839|Split foot;HP:0000174|Abnormality of the palate;HP:0010743|Short metatarsal;HP:0010059|Broad hallux phalanx;HP:0000508|Ptosis
thoracic outlet syndrome	HP:0002829|Arthralgia;HP:0003401|Paresthesia;HP:0003326|Myalgia;HP:0000763|Sensory neuropathy;HP:0001324|Muscle weakness;HP:0004936|Venous thrombosis;HP:0003457|EMG abnormality;HP:0003394|Muscle cramps;HP:0002619|Varicose veins;HP:0000772|Abnormality of the ribs;HP:0000969|Edema
acanthamoeba keratitis	HP:0000481|Abnormality of the cornea;HP:0012155|Decreased corneal sensation;HP:0012804|Corneal ulceration;HP:0012122|Anterior uveitis;HP:0000518|Cataract;HP:0100532|Scleritis;HP:0011495|Abnormality of corneal epithelium;HP:0000593|Abnormality of the anterior chamber;HP:0004329|Abnormality of the posterior segment of the globe;HP:0000613|Photophobia;HP:0012040|Corneal stromal edema;HP:0200026|Ocular pain;HP:0100583|Corneal perforation;HP:0007856|Punctate opacification of the cornea;HP:0001089|Iris atrophy
arthrogryposis multiplex congenita	HP:0001883|Talipes;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0000457|Depressed nasal ridge;HP:0002650|Scoliosis;HP:0002804|Arthrogryposis multiplex congenita;HP:0002827|Hip dislocation;HP:0003019|Abnormality of the wrist;HP:0000368|Low-set, posteriorly rotated ears;HP:0000776|Congenital diaphragmatic hernia;HP:0001561|Polyhydramnios;HP:0009465|Ulnar deviation of finger;HP:0001004|Lymphedema;HP:0002103|Abnormality of the pleura;HP:0004295|Abnormality of the gastric mucosa;HP:0001543|Gastroschisis
knobloch syndrome	HP:0000639|Nystagmus;HP:0000585|Band keratopathy;HP:0004327|Abnormality of the vitreous humor;HP:0011800|Midface retrusion;HP:0001651|Dextrocardia;HP:0000518|Cataract;HP:0001268|Mental deterioration;HP:0000541|Retinal detachment;HP:0000545|Myopia;HP:0005280|Depressed nasal bridge;HP:0000572|Visual loss;HP:0001104|Macular hypoplasia;HP:0000541|Detached retina;HP:0002059|Degeneration of cerebrum;HP:0001251|Ataxia;HP:0011003|High myopia;HP:0000486|Strabismus;HP:0000655|Vitreoretinal degeneration;HP:0001362|Skull defect;HP:0005692|Joint hyperflexibility;HP:0001643|Patent ductus arteriosus;HP:0002085|Occipital encephalocele;HP:0100764|Lymphangioma;HP:0000519|Cataracts, lenticular, bilateral;HP:0000076|Vesicoureteral reflux;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000529|Progressive visual loss;HP:0002021|Pyloric stenosis;HP:0001595|Abnormality of the hair;HP:0030037|Bifid ureter;HP:0001083|Ectopia lentis;HP:0001272|Cerebellar atrophy;HP:0000667|Phthisis bulbi;HP:0002126|Polymicrogyria;HP:0000608|Macular degeneration;HP:0000238|Hydrocephalus;HP:0002119|Ventricular dilatation
genitopatellar syndrome	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0001274|Agenesis of corpus callosum;HP:0000946|Hypoplastic ilia;HP:0002089|Pulmonary hypoplasia;HP:0004322|Short stature;HP:0002213|Fine hair;HP:0000365|Hearing impairment;HP:0000445|Wide nose;HP:0001631|Atrial septal defect;HP:0000750|Delayed speech and language development;HP:0000347|Micrognathia;HP:0000126|Hydronephrosis;HP:0000369|Low-set ears;HP:0001762|Talipes equinovarus;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0000684|Delayed eruption of teeth;HP:0003175|Hypoplastic ischia;HP:0004279|Short palm;HP:0002804|Arthrogryposis multiplex congenita;HP:0011968|Feeding difficulties;HP:0002020|Gastroesophageal reflux;HP:0001250|Seizures;HP:0000003|Multicystic kidney dysplasia;HP:0002209|Sparse scalp hair;HP:0000252|Microcephaly;HP:0000046|Scrotal hypoplasia;HP:0000448|Prominent nose;HP:0006443|Patellar aplasia;HP:0001249|Intellectual disability;HP:0002974|Radioulnar synostosis;HP:0000426|Prominent nasal bridge;HP:0006380|Knee flexion contracture;HP:0000280|Coarse facial features;HP:0003273|Hip contracture;HP:0008665|Clitoral hypertrophy;HP:0002104|Apnea
beta-ureidopropionase deficiency	HP:0001249|Mental retardation;HP:0000252|Small head circumference;HP:0002167|Speech disorder;HP:0002133|Status epilepticus;HP:0002023|Anal atresia;HP:0002650|Scoliosis;HP:0001332|Dystonia;HP:0002836|Bladder exstrophy;HP:0001319|Hypotonia, in neonatal onset;HP:0002188|Delayed CNS myelination;HP:0002521|Hypsarrhythmia by EEG;HP:0000048|Bifid scrotum
crisponi syndrome	HP:0000160|Narrow mouth;HP:0100543|Cognitive impairment;HP:0000218|High palate;HP:0100729|Large face;HP:0001376|Limitation of joint mobility;HP:0000445|Wide nose;HP:0001371|Flexion contracture;HP:0000347|Micrognathia;HP:0000343|Long philtrum;HP:0001522|Death in infancy;HP:0001276|Hypertonia;HP:0011968|Feeding difficulties;HP:0001250|Seizures;HP:0000975|Hyperhidrosis;HP:0002093|Respiratory insufficiency;HP:0000966|Hypohidrosis;HP:0000293|Full cheeks;HP:0002650|Scoliosis;HP:0002808|Kyphosis;HP:0001645|Sudden cardiac death;HP:0000463|Anteverted nares;HP:0100490|Camptodactyly of finger;HP:0002047|Malignant hyperthermia
hyaluronidase deficiency	HP:0003170|Abnormality of the acetabulum;HP:0004322|Stature below 3rd percentile;HP:0004322|Short stature;HP:0000951|dermatopathy;HP:0005280|Flat, nasal bridge;HP:0000403|Otitis media, recurrent;HP:0000193|Uvula bifida;HP:0002159|Heparan sulfate excretion in urine;HP:0000176|Submucous cleft hard palate;HP:0012069|Keratan sulfate excretion in urine
3c syndrome	HP:0001263|Global developmental delay;HP:0000470|Short neck;HP:0001650|Aortic valve stenosis;HP:0001633|Abnormality of the mitral valve;HP:0002023|Anal atresia;HP:0003196|Short nose;HP:0004322|Short stature;HP:0001629|Ventricular septal defect;HP:0002119|Ventriculomegaly;HP:0008897|Postnatal growth retardation;HP:0005280|Depressed nasal bridge;HP:0001631|Atrial septal defect;HP:0008736|Hypoplasia of penis;HP:0001156|Brachydactyly syndrome;HP:0002205|Recurrent respiratory infections;HP:0000047|Hypospadias;HP:0001702|Abnormality of the tricuspid valve;HP:0002269|Abnormality of neuronal migration;HP:0002937|Hemivertebrae;HP:0000347|Micrognathia;HP:0006101|Finger syndactyly;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0002007|Frontal bossing;HP:0000126|Hydronephrosis;HP:0000369|Low-set ears;HP:0000921|Missing ribs;HP:0002167|Neurological speech impairment;HP:0000316|Hypertelorism;HP:0006709|Aplasia/Hypoplasia of the nipples;HP:0001522|Death in infancy;HP:0001636|Tetralogy of Fallot;HP:0001642|Pulmonic stenosis;HP:0000384|Preauricular skin tag;HP:0000329|Facial hemangioma;HP:0000612|Iris coloboma;HP:0000494|Downslanted palpebral fissures;HP:0002020|Gastroesophageal reflux;HP:0008872|Feeding difficulties in infancy;HP:0000175|Cleft palate;HP:0000256|Macrocephaly;HP:0002650|Scoliosis;HP:0003272|Abnormality of the hip bone;HP:0002808|Kyphosis;HP:0000648|Optic atrophy;HP:0000835|Adrenal hypoplasia;HP:0000431|Wide nasal bridge;HP:0004383|Hypoplastic left heart;HP:0000023|Inguinal hernia;HP:0001305|Dandy-Walker malformation;HP:0001249|Intellectual disability;HP:0000202|Oral cleft;HP:0002705|High, narrow palate;HP:0001195|Single umbilical artery;HP:0000567|Chorioretinal coloboma;HP:0000269|Prominent occiput;HP:0002566|Intestinal malrotation;HP:0000235|Abnormality of the fontanelles or cranial sutures;HP:0006695|Atrioventricular canal defect;HP:0001161|Hand polydactyly;HP:0001804|Hypoplastic fingernail;HP:0001252|Muscular hypotonia;HP:0000501|Glaucoma;HP:0000238|Hydrocephalus;HP:0004397|Ectopic anus
marshall syndrome	HP:0000639|Nystagmus;HP:0004327|Abnormality of the vitreous humor;HP:0000520|Proptosis;HP:0000518|Cataract;HP:0000535|Sparse eyebrow;HP:0000646|Amblyopia;HP:0004322|Short stature;HP:0000541|Retinal detachment;HP:0000545|Myopia;HP:0001006|Hypotrichosis;HP:0003196|Short nose;HP:0000248|Brachycephaly;HP:0000218|High palate;HP:0005280|Depressed nasal bridge;HP:0002829|Arthralgia;HP:0000215|Thick upper lip vermilion;HP:0000347|Micrognathia;HP:0012368|Flat face;HP:0002007|Frontal bossing;HP:0000486|Strabismus;HP:0000655|Vitreoretinal degeneration;HP:0000343|Long philtrum;HP:0000316|Hypertelorism;HP:0000164|Abnormality of the teeth;HP:0000407|Sensorineural hearing impairment;HP:0000175|Cleft palate;HP:0000327|Hypoplasia of the maxilla;HP:0000966|Hypohidrosis;HP:0002514|Cerebral calcification;HP:0002758|Osteoarthritis;HP:0000272|Malar flattening;HP:0002857|Genu valgum;HP:0000431|Wide nasal bridge;HP:0000653|Sparse eyelashes;HP:0000179|Thick lower lip vermilion;HP:0001083|Ectopia lentis;HP:0000505|Visual impairment;HP:0002738|Hypoplastic frontal sinuses;HP:0000463|Anteverted nares;HP:0000501|Glaucoma;HP:0010669|Cheekbone underdevelopment;HP:0002684|Thickened calvaria
subcorneal pustular dermatosis	HP:0010783|Erythema;HP:0200039|Pustule;HP:0010702|Increased antibody level in blood;HP:0002960|Autoimmunity;HP:0000989|Pruritus;HP:0000953|Hyperpigmentation of the skin;HP:0006775|Multiple myeloma;HP:0001370|Rheumatoid arthritis;HP:0002725|Systemic lupus erythematosus;HP:0000821|Hypothyroidism;HP:0000836|Hyperthyroidism
dowling-degos disease	HP:0007456|Progressive reticulate hyperpigmentation
aplasia cutis congenita	HP:0007383|Congenital localized absence of skin;HP:0010301|Spinal dysraphism;HP:0003010|Prolonged bleeding time;HP:0001362|Skull defect;HP:0004471|Aplasia cutis congenita over the scalp vertex;HP:0010628|Facial palsy;HP:0200042|Skin ulcer;HP:0004471|Absent cutis congenita of vertex;HP:0004348|Abnormality of bone mineral density
spondyloenchondrodysplasia	HP:0002657|Spondylometaphyseal dysplasia;HP:0001249|Mental retardation;HP:0004322|Stature below 3rd percentile;HP:0002751|Kyphoscoliosis;HP:0000926|Flattened vertebral bodies;HP:0002938|Exaggerated lumbar lordosis;HP:0004015|Abnormality of radial metaphyses;HP:0002514|Intracranial calcifications;HP:0005868|Metaphyseal enchondromatosis;HP:0004039|Abnormality of ulnar metaphysis;HP:0002478|Progressive spastic quadriplegia;HP:0006491|Abnormality of the tibial metaphysis;HP:0002983|Micromelia
atrioventricular septal defect	HP:0001635|Congestive heart failure;HP:0000961|Cyanosis;HP:0011622|Inlet ventricular septal defect;HP:0002092|Pulmonary artery hypertension;HP:0010445|Septum primum defect;HP:0011705|First degree atrioventricular block
ochoa syndrome	HP:0000028|Cryptorchidism;HP:0001999|Facial dysmorphism;HP:0000796|Urethral obstruction;HP:0005346|Abnormal facial expression;HP:0002607|Bowel incontinence;HP:0000805|Enuresis;HP:0000126|Hydronephrosis;HP:0000020|Urinary incontinence;HP:0000072|Megaureter;HP:0010481|Urethral valve;HP:0002019|Dyschezia;HP:0000822|Hypertension;HP:0002019|Constipation;HP:0001959|Polydipsia;HP:0000010|Recurrent urinary tract infections;HP:0000076|Vesicoureteral reflux;HP:0000010|Frequent urinary tract infections;HP:0000083|Renal insufficiency
atrichia with papular lesions	HP:0007482|Generalized papillary lesions;HP:0001006|Marked hypotrichosis
foodborne botulism	HP:0003470|Paralysis;HP:0011499|Mydriasis;HP:0000016|Urinary retention;HP:0001324|Muscle weakness;HP:0002014|Diarrhea;HP:0002015|Dysphagia;HP:0011675|Arrhythmia;HP:0100021|Cerebral palsy;HP:0002019|Constipation;HP:0002027|Abdominal pain;HP:0002017|Nausea and vomiting;HP:0002747|Respiratory insufficiency due to muscle weakness;HP:0006597|Diaphragmatic paralysis;HP:0006543|Cardiorespiratory arrest;HP:0006824|Cranial nerve paralysis;HP:0000651|Diplopia;HP:0000217|Xerostomia;HP:0000508|Ptosis;HP:0001260|Dysarthria
congenital heart block	HP:0006690|Myocardial calcification;HP:0001653|Mitral valve insufficiency;HP:0001692|Primary atrial arrhythmia;HP:0001685|Myocardial fibrosis;HP:0006681|Absent atrioventricular node;HP:0001638|Cardiomyopathy
scurvy	HP:0001939|Laboratory abnormality
acheiropodia	HP:0004050|Absent hand;HP:0002990|Fibular aplasia;HP:0009813|Upper limb phocomelia;HP:0003974|Absent radius;HP:0005792|Short humerus;HP:0003982|Absent ulna;HP:0005930|Abnormality of epiphysis morphology;HP:0000944|Abnormality of the metaphyses
placental insufficiency	HP:0012418|Hypoxemia;HP:0003508|Proportionate short stature;HP:0000717|Autism;HP:0100601|Eclampsia;HP:0000729|Autistic behavior;HP:0003613|Antiphospholipid antibody positivity;HP:0001627|Abnormal heart morphology;HP:0006266|Small placenta;HP:0001518|Small for gestational age;HP:0012759|Neurodevelopmental abnormality;HP:0000855|Insulin resistance;HP:0002088|Abnormality of lung morphology;HP:0005268|Spontaneous abortion;HP:0100021|Cerebral palsy;HP:0100602|Preeclampsia;HP:0001511|Intrauterine growth retardation;HP:0008071|Maternal hypertension;HP:0002725|Systemic lupus erythematosus;HP:0011403|Abnormal umbilical cord blood vessels;HP:0100767|Abnormality of the placenta
dermatopathia pigmentosa reticularis	HP:0012788|Mottled pigmentation of oral mucosa;HP:0000972|Thick palms and soles;HP:0007550|Lack of sweating or excessive sweating;HP:0007588|Reticulate hyperpigmentation;HP:0007455|Adermatoglyphia;HP:0008404|Dystrophic nails;HP:0002293|Scalp hair loss;HP:0000502|Abnormality of the conjunctiva
gonadoblastoma	HP:0008723|Gonadal dysgenesis with female appearance, male;HP:0000137|Abnormality of the ovary;HP:0003270|Abdominal distention;HP:0001939|Laboratory abnormality;HP:0008730|Female external genitalia in individual with 46,XY karyotype;HP:0030088|Increased serum testosterone level;HP:0001007|Hirsutism;HP:0000149|Ovarian gonadoblastoma;HP:0002027|Abdominal pain;HP:0000062|Ambiguous genitalia;HP:0000150|Gonadoblastoma;HP:0100621|Dysgerminoma;HP:0008703|Gonadal calcification
congenital lactase deficiency	HP:0002014|Diarrhea;HP:0001942|Metabolic acidosis;HP:0001944|Dehydration;HP:0004789|Lactose intolerance
kleefstra syndrome	HP:0001252|Hypotonia;HP:0001249|Mental retardation;HP:0001627|Congenital heart defects;HP:0000252|Small head circumference;HP:0003196|Short nose;HP:0010808|Lingual prolapse;HP:0000463|Nostrils anteverted;HP:0011800|Midface, flat;HP:0000664|Unibrow
15q13.3 microdeletion syndrome	HP:0001263|Global developmental delay;HP:0000486|Squint eyes;HP:0004322|Short stature;HP:0030680|Abnormality of cardiovascular system morphology;HP:0000316|Increased distance between eye sockets;HP:0008050|Abnormality of the opening between the eyelids;HP:0004209|Clinodactyly of fifth digit;HP:0002342|Intellectual disability, moderate;HP:0002007|Frontal bossing;HP:0000664|Unibrow;HP:0005274|Prominent nasal tip;HP:0002564|Malformation of the heart and great vessels;HP:0000377|Malformation of auricle;HP:0010864|Early and severe mental retardation;HP:0000486|Strabismus;HP:0001249|Mental retardation;HP:0000494|Downslanted palpebral fissures;HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0001999|Facial dysmorphism;HP:0000256|Macrocephaly;HP:0001156|Brachydactyly;HP:0000252|Microcephaly;HP:0000708|Behavioral problems;HP:0007018|Attention deficit hyperactivity disorder;HP:0004209|Clinodactyly of the 5th finger;HP:0007302|Bipolar affective disorder;HP:0000995|Melanocytic nevus;HP:0001249|Intellectual disability;HP:0000717|Autism;HP:0000411|Protruding ear;HP:0100753|Schizophrenia;HP:0001328|Specific learning disability;HP:0000400|Macrotia;HP:0001256|Mild mental retardation;HP:0001252|Muscular hypotonia;HP:0000271|Abnormal face
acth-independent cushing syndrome	HP:0000938|Decreased bone mineral density;HP:0001061|Acne;HP:0000311|Round facial shape;HP:0002920|Decreased circulating ACTH level;HP:0001065|Striae distensae;HP:0000787|Nephrolithiasis;HP:0012378|Fatigue;HP:0001268|Mental deterioration;HP:0001579|Primary hypercorticolism;HP:0000978|Bruising susceptibility;HP:0400008|Menometrorrhagia;HP:0001065|Purplish striae;HP:0000963|Thin skin;HP:0002808|Gibbus deformity;HP:0008231|Macronodular adrenal hyperplasia;HP:0000822|Hypertension;HP:0000739|Anxiety;HP:0000978|Bruisability;HP:0000713|Agitation;HP:0002664|Neoplasia;HP:0002900|Hypokalemia;HP:0003202|Neurogenic muscle atrophy, especially in the lower limbs;HP:0008182|Adrenocortical hypoplasia;HP:0000939|Osteoporosis;HP:0000709|Psychosis;HP:0001508|Failure to thrive;HP:0002230|Generalized hirsutism;HP:0000311|Round face;HP:0001575|Mood alterations;HP:0000789|Infertility;HP:0001956|Centripetal obesity;HP:0001324|Muscle weakness;HP:0000819|Diabetes mellitus;HP:0001956|Truncal obesity;HP:0000716|Depression;HP:0008568|Vestibular areflexia
familial male-limited precocious puberty	HP:0000053|Macroorchidism;HP:0000708|Behavioral abnormality;HP:0000098|Tall stature;HP:0001061|Acne;HP:0008185|Early onset of puberty in males;HP:0000798|Oligospermia;HP:0000826|Precocious puberty;HP:0008734|Decreased testicular size;HP:0000040|Long penis;HP:0003251|Male infertility;HP:0007018|Attention deficit hyperactivity disorder;HP:0001595|Abnormality of the hair;HP:0005616|Accelerated skeletal maturation
ichthyosis bullosa of siemens	HP:0007475|Epidermolytic hyperkeratosis
acromesomelic dysplasia	HP:0002986|Bowed radii;HP:0000954|Simian creases;HP:0003042|Radiocapitellar dislocation;HP:0006110|Shortened middle finger bones;HP:0005736|Short tibia;HP:0003038|Hypoplastic fibula;HP:0001773|Small feet;HP:0002827|Hip dislocation;HP:0003086|Acromesomelia;HP:0006011|Short, cube shaped long bone of hand;HP:0006144|Shortening of all innermost bones of the fingers;HP:0008890|Severe short-limb dwarfism;HP:0009778|Small thumbs;HP:0002984|Hypoplastic radius;HP:0003022|Short ulna;HP:0005096|Distal femoral bowing;HP:0006014|Abnormally shaped carpal bones
jacobsen syndrome	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0000470|Short neck;HP:0001274|Agenesis of corpus callosum;HP:0001650|Aortic valve stenosis;HP:0000518|Cataract;HP:0003196|Short nose;HP:0004322|Short stature;HP:0001629|Ventricular septal defect;HP:0002119|Ventriculomegaly;HP:0002019|Constipation;HP:0001770|Toe syndactyly;HP:0004378|Abnormality of the anus;HP:0000625|Cleft eyelid;HP:0000243|Trigonocephaly;HP:0010761|Broad columella;HP:0000508|Ptosis;HP:0002247|Duodenal atresia;HP:0002205|Recurrent respiratory infections;HP:0005528|Bone marrow hypocellularity;HP:0001873|Thrombocytopenia;HP:0002007|Frontal bossing;HP:0006101|Finger syndactyly;HP:0000126|Hydronephrosis;HP:0001680|Coarctation of aorta;HP:0000486|Strabismus;HP:0000921|Missing ribs;HP:0000465|Webbed neck;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0001522|Death in infancy;HP:0009906|Aplasia/Hypoplasia of the earlobes;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0001511|Intrauterine growth retardation;HP:0001302|Pachygyria;HP:0002414|Spina bifida;HP:0000612|Iris coloboma;HP:0000494|Downslanted palpebral fissures;HP:0001510|Growth delay;HP:0008872|Feeding difficulties in infancy;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000324|Facial asymmetry;HP:0000003|Multicystic kidney dysplasia;HP:0001831|Short toe;HP:0002059|Cerebral atrophy;HP:0000256|Macrocephaly;HP:0000656|Ectropion;HP:0003312|Abnormal form of the vertebral bodies;HP:0002650|Scoliosis;HP:0000319|Smooth philtrum;HP:0001863|Toe clinodactyly;HP:0001622|Premature birth;HP:0007018|Attention deficit hyperactivity disorder;HP:0000431|Wide nasal bridge;HP:0002021|Pyloric stenosis;HP:0000023|Inguinal hernia;HP:0004383|Hypoplastic left heart;HP:0007302|Bipolar affective disorder;HP:0010059|Broad hallux phalanx;HP:0001249|Intellectual disability;HP:0001883|Talipes;HP:0000348|High forehead;HP:0001847|Long hallux;HP:0100753|Schizophrenia;HP:0000463|Anteverted nares;HP:0001734|Annular pancreas;HP:0002827|Hip dislocation;HP:0002566|Intestinal malrotation;HP:0000368|Low-set, posteriorly rotated ears;HP:0001763|Pes planus;HP:0001161|Hand polydactyly;HP:0000964|Eczema;HP:0000174|Abnormality of the palate;HP:0004397|Ectopic anus;HP:0000482|Microcornea
eec syndrome	HP:0000670|Carious teeth;HP:0008404|Nail dystrophy;HP:0000068|Urethral atresia;HP:0000535|Sparse eyebrow;HP:0000682|Abnormality of dental enamel;HP:0004322|Short stature;HP:0002213|Fine hair;HP:0000453|Choanal atresia;HP:0001770|Toe syndactyly;HP:0007513|Generalized hypopigmentation;HP:0000824|Growth hormone deficiency;HP:0008714|Ureterovesical stenosis;HP:0000217|Xerostomia;HP:0000954|Simian creases;HP:0000047|Hypospadias;HP:0001171|Split hand;HP:0008678|Renal hypoplasia/aplasia;HP:0006101|Finger syndactyly;HP:0100533|Inflammatory abnormality of the eye;HP:0000126|Hydronephrosis;HP:0200020|Corneal erosion;HP:0006709|Aplasia/Hypoplasia of the nipples;HP:0000359|Abnormality of the inner ear;HP:0100257|Ectrodactyly;HP:0000574|Thick eyebrow;HP:0002007|Frontal protruberance;HP:0000778|Hypoplasia of the thymus;HP:0000407|Sensorineural hearing impairment;HP:0009804|Reduced number of teeth;HP:0002208|Coarse hair;HP:0000076|Vesicoureteral reflux;HP:0000632|Lacrimation abnormality;HP:0000962|Hyperkeratosis;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0000175|Cleft palate;HP:0002665|Lymphoma;HP:0000966|Hypohidrosis;HP:0000138|Ovarian cyst;HP:0001803|Nail pits;HP:0005280|Flat, nasal bridge;HP:0011927|Short digit;HP:0001609|Hoarseness;HP:0000813|Bicornuate uterus;HP:0000498|Blepharitis;HP:0001042|High axial triradius;HP:0009623|Proximal placement of thumb;HP:0000370|Abnormality of the middle ear;HP:0000491|Keratitis;HP:0003764|Nevus;HP:0010311|Aplasia/Hypoplasia of the breasts;HP:0000830|Anterior hypopituitarism;HP:0000023|Inguinal hernia;HP:0001249|Intellectual disability;HP:0000202|Oral cleft;HP:0000679|Taurodontia;HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0000691|Microdontia;HP:0001371|Flexion contractures of joints;HP:0000958|Dry skin;HP:0002217|Slow-growing hair;HP:0000613|Photophobia;HP:0000621|Entropion;HP:0000280|Coarse facial features;HP:0001839|Split foot;HP:0008572|External ear malformation;HP:0011220|Prominent forehead;HP:0000054|Short penis;HP:0001804|Underdeveloped fingernail
adenylosuccinate lyase deficiency	HP:0001250|Seizures;HP:0005469|Flat occiput;HP:0000219|Thin upper lip vermilion;HP:0005487|Prominent metopic ridge;HP:0000369|Low-set ears;HP:0003196|Short nose;HP:0000463|Anteverted nares;HP:0000252|Microcephaly;HP:0007103|Hypointensity of cerebral white matter on MRI;HP:0000319|Smooth philtrum;HP:0000343|Long philtrum;HP:0000248|Brachycephaly;HP:0001344|Absent speech;HP:0001999|Abnormal facial shape;HP:0001290|Generalized hypotonia;HP:0011344|Severe global developmental delay;HP:0001249|Intellectual disability
mal de meleda	HP:0000975|Increased sweating;HP:0007553|Congenital symmetrical palmoplantar keratosis;HP:0010783|Erythema;HP:0000975|Hyperhidrosis;HP:0000153|Abnormal mouth;HP:0001805|Thick nail;HP:0008392|Subungual hyperkeratosis;HP:0001808|Brittle nails;HP:0007435|Diffuse palmoplantar keratoderma;HP:0007390|Hyperkeratosis with erythema;HP:0008064|Ichthyosis;HP:0001598|Concave nail;HP:0001156|Brachydactyly
christianson syndrome	HP:0000639|Nystagmus;HP:0002015|Dysphagia;HP:0002119|Ventriculomegaly;HP:0001344|Absent speech;HP:0002376|Developmental regression;HP:0000366|Abnormality of the nose;HP:0000767|Pectus excavatum;HP:0002529|Neuronal loss in central nervous system;HP:0000602|Ophthalmoplegia;HP:0000490|Deeply set eye;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0000303|Mandibular prognathia;HP:0100024|Conspicuously happy disposition;HP:0000276|Long face;HP:0000486|Strabismus;HP:0005692|Joint hyperflexibility;HP:0000733|Stereotypy;HP:0001332|Dystonia;HP:0002066|Gait ataxia;HP:0000574|Thick eyebrow;HP:0002120|Cerebral cortical atrophy;HP:0011344|Severe global developmental delay;HP:0002078|Truncal ataxia;HP:0002804|Arthrogryposis multiplex congenita;HP:0008872|Feeding difficulties in infancy;HP:0002020|Gastroesophageal reflux;HP:0003199|Decreased muscle mass;HP:0000275|Narrow face;HP:0000252|Microcephaly;HP:0001181|Adducted thumb;HP:0002300|Mutism;HP:0000717|Autism;HP:0004326|Cachexia;HP:0002187|Intellectual disability, profound;HP:0001272|Cerebellar atrophy;HP:0000400|Macrotia;HP:0000765|Abnormality of the thorax;HP:0100613|Death in early adulthood;HP:0000748|Inappropriate laughter;HP:0002197|Generalized seizures
hand-foot-genital syndrome	HP:0001629|Ventricular septal defect;HP:0007477|Abnormal dermatoglyphics;HP:0000010|Recurrent urinary tract infections;HP:0000074|Ureteropelvic junction obstruction;HP:0000047|Hypospadias;HP:0000130|Abnormality of the uterus;HP:0010105|Short first metatarsal;HP:0010109|Short hallux;HP:0000486|Strabismus;HP:0000960|Sacral dimple;HP:0001162|Postaxial hand polydactyly;HP:0000076|Vesicoureteral reflux;HP:0008080|Hallux varus;HP:0009778|Short thumb;HP:0005268|Spontaneous abortion;HP:0000795|Abnormality of the urethra;HP:0000813|Bicornuate uterus;HP:0009623|Proximal placement of thumb;HP:0004209|Clinodactyly of the 5th finger;HP:0006110|Shortening of all middle phalanges of the fingers;HP:0010034|Short 1st metacarpal;HP:0005048|Synostosis of carpal bones;HP:0011937|Hypoplastic fifth toenail;HP:0008551|Microtia;HP:0009882|Short distal phalanx of finger
glycogen storage disease type vii	HP:0030271|Reduced erythrocyte 2,3-diphosphoglycerate concentration;HP:0001997|Gout;HP:0000952|Yellow skin;HP:0008305|Exercise-induced myoglobinuria;HP:0003710|Muscle cramps following exercise;HP:0001878|Haemolytic anaemia;HP:0001923|Reticulocytosis;HP:0003573|Increased bilirubin;HP:0001324|Muscular weakness;HP:0003546|Exercise intolerance;HP:0009051|Increased muscle glycogen content;HP:0001081|Gallstones
schnyder corneal dystrophy	HP:0001131|Corneal dystrophy;HP:0007760|Crystalline corneal dystrophy
autosomal recessive spastic ataxia of charlevoix-saguenay	HP:0000639|Nystagmus;HP:0007922|Retinal striation;HP:0006150|Swan neck-like deformities of the fingers;HP:0001310|Dysmetria;HP:0002936|Decreased distal sensation;HP:0002166|Decreased lower limb vibratory sense;HP:0002527|Falls;HP:0001257|Spasticity;HP:0001765|Hammertoes;HP:0007772|Impaired smooth pursuit;HP:0002460|Weakness of distal muscles;HP:0000012|Urinary urgency;HP:0001249|Mental retardation;HP:0000762|Decreased NCV;HP:0003387|Decreased number of large peripheral myelinated nerve fibers;HP:0003693|Muscle atrophy, distal;HP:0003448|Decreased sensory nerve conduction velocities;HP:0007221|Progressive truncal ataxia;HP:0007001|Loss of Purkinje cells in the cerebellar vermis;HP:0001761|Pes cavus;HP:0002497|Spastic ataxia;HP:0006855|Atrophy of the cerebellar vermis;HP:0001347|Hyperreflexia;HP:0007240|Gait ataxia, progressive;HP:0003438|Absent Achilles reflex;HP:0003487|Extensor plantar reflexes;HP:0001260|Dysarthric speech;HP:0002168|Explosive speech
mucocutaneous venous malformations	HP:0002584|Intestinal hemorrhage;HP:0012721|Venous malformations;HP:0000153|Abnormal mouth
tumor necrosis factor receptor-associated periodic syndrome	HP:0011034|Amyloid disease;HP:0000988|Exanthem;HP:0003552|Muscle stiffness;HP:0002027|Abdominal pain;HP:0000969|Dropsy;HP:0001954|Increased body temperature, episodic;HP:0100539|Periorbital swelling;HP:0012280|Hepatic amyloidosis;HP:0003565|Elevated sedimentation rate;HP:0002829|Arthralgias;HP:0003326|Muscle pain
5-oxoprolinuria	HP:0001250|Seizures;HP:0001251|Ataxia;HP:0002080|Intention tremor;HP:0001878|Haemolytic anaemia;HP:0000580|Pigmentary retinopathy;HP:0001345|Psychotic mentation;HP:0001996|Chronic metabolic acidosis;HP:0001875|Neutropenia;HP:0001260|Dysarthric speech;HP:0001285|Spastic tetraparesis;HP:0001249|Mental retardation;HP:0003343|Glutathione synthetase deficiency
landau kleffner syndrome	HP:0000750|Late-onset speech development;HP:0011098|Verbal dyspraxia;HP:0001250|Seizures;HP:0001263|Developmental retardation;HP:0007018|Attention deficits;HP:0002357|Dysphasia;HP:0012557|EEG with centrotemporal focal spike waves;HP:0010524|Agnosia;HP:0002381|Aphasia;HP:0001249|Mental retardation
simpson dysmorphia syndrome	HP:0008523|Ear, posterior helical notch
fructose-1,6-bisphosphatase deficiency	HP:0001252|Hypotonia;HP:0002883|Rapid breathing;HP:0001250|Seizures;HP:0001942|Metabolic acidosis;HP:0002094|Dyspnea;HP:0002240|Enlarged liver;HP:0001254|Lethargy;HP:0001259|Coma;HP:0001946|High levels of ketone bodies;HP:0001943|Hypoglycemia;HP:0000737|Irritability;HP:0001945|Fever;HP:0001649|Tachycardia;HP:0002104|Absence of spontaneous respiration
46,xx testicular disorder of sex development	HP:0000026|Male hypogonadism;HP:0008734|Decreased testicular size;HP:0000147|Polycystic ovaries;HP:0012245|Sex reversal;HP:0000062|Ambiguous genitalia;HP:0010459|True hermaphroditism
benign paroxysmal positional nystagmus	HP:0002141|Imbalanced walk;HP:0002321|Vertigo
severe combined immunodeficiency, x-linked	HP:0002240|Enlarged liver;HP:0000988|Exanthem;HP:0000778|Thymus hypoplasia;HP:0009098|Chronic oral candidiasis;HP:0002841|Recurrent fungal infections;HP:0007274|Recurrent bacterial meningitis;HP:0004432|Agammaglobulinaemia;HP:0002028|Chronic diarrhea;HP:0004430|Severe combined immunodeficiency;HP:0001508|Weight faltering;HP:0002090|Pneumonia
craniofacial microsomia	HP:0000486|Squint eyes;HP:0002089|Hypoplastic lungs;HP:0009794|Branchial anomalies;HP:0000581|Blepharophimosis;HP:0000347|Hypoplasia of mandible;HP:0001274|Absent corpus callosum;HP:0001629|Ventricular septal defects;HP:0000074|Ureteropelvic junction obstruction;HP:0000086|Ectopic kidney;HP:0001680|Coarctation of aorta;HP:0008605|Unilateral external ear deformity;HP:0000104|Renal agenesis;HP:0001636|Tetrology of fallot;HP:0002308|Chiari malformation;HP:0000204|Cleft upper lip;HP:0002085|Occipital encephalocele;HP:0000175|Palatoschisis;HP:0009892|Anotia;HP:0000384|Preauricular skin tag;HP:0001249|Mental retardation;HP:0008417|Vertebral hypoplasia;HP:0004660|Deficiency of facial musculature;HP:0000324|Asymmetry of face;HP:0000003|Multicystic kidney dysplasia;HP:0000327|Maxillary micrognathia;HP:0000528|Absence of eyeballs;HP:0001643|Persistent ductus arteriosus;HP:0000154|Large mouth;HP:0001140|Epibulbar dermoid;HP:0003305|Block vertebrae;HP:0000413|External auditory meatal atresia;HP:0000272|Depressed malar region;HP:0000405|Conductive hearing loss;HP:0002937|Hemivertebra;HP:0000238|Nonsyndromal hydrocephalus;HP:0000636|Upper eyelid colobomas;HP:0000407|sensorineural hearing loss;HP:0000568|Abnormally small globe of eye;HP:0000076|Vesicoureteric reflux;HP:0008551|Hypoplasia of the external ear
panencephalitis, subacute sclerosing	HP:0002383|Encephalitis
gm2 gangliosidosis, ab variant	HP:0002421|Poor head control;HP:0002835|Aspiration;HP:0100543|Cognitive impairment;HP:0004322|Short stature;HP:0007256|Abnormal pyramidal signs;HP:0030904|Glabellar reflex;HP:0002267|Exaggerated startle response;HP:0002376|Developmental regression;HP:0002072|Chorea;HP:0000719|Inappropriate behavior;HP:0008897|Postnatal growth retardation;HP:0003470|Inability to move;HP:0000618|Blindness;HP:0001332|Dystonia;HP:0010729|Cherry red spot of the macula;HP:0000739|Anxiety;HP:0001276|Hypertonia;HP:0002371|Loss of speech;HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0002059|Cerebral atrophy;HP:0001263|Developmental retardation;HP:0000741|Apathy;HP:0002478|Progressive spastic quadriplegia;HP:0000726|Dementia;HP:0002180|Neurodegeneration;HP:0010780|Hyperacusis;HP:0100852|Abnormal fear/anxiety-related behavior;HP:0030081|Punctate periventricular T2 hyperintense foci;HP:0001347|Hyperreflexia;HP:0003495|GM2-ganglioside accumulation;HP:0009062|Infantile axial hypotonia;HP:0002200|Pseudobulbar signs;HP:0012547|Abnormal involuntary eye movements;HP:0002476|Primitive reflex
lig4 syndrome	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0100585|Telangiectasia of the skin;HP:0000248|Brachycephaly;HP:0000233|Thin vermilion border;HP:0008736|Hypoplasia of penis;HP:0010783|Erythema;HP:0002716|Lymphadenopathy;HP:0000582|Upslanted palpebral fissure;HP:0000347|Micrognathia;HP:0000506|Telecanthus;HP:0004430|Severe combined immunodeficiency;HP:0003220|Abnormality of chromosome stability;HP:0002024|Malabsorption;HP:0001510|Growth delay;HP:0000924|Abnormality of the skeletal system;HP:0001876|Pancytopenia;HP:0005978|Type II diabetes mellitus;HP:0000286|Epicanthus;HP:0002665|Lymphoma;HP:0000294|Low anterior hairline;HP:0000252|Microcephaly;HP:0002240|Hepatomegaly;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0001249|Intellectual disability;HP:0001974|Leukocytosis;HP:0003683|Large beaked nose;HP:0002721|Immunodeficiency;HP:0005561|Abnormality of bone marrow cell morphology;HP:0000992|Cutaneous photosensitivity;HP:0002488|Acute leukemia;HP:0004422|Biparietal narrowing;HP:0000320|Bird-like facies;HP:0000821|Hypothyroidism
haddad syndrome	HP:0002020|Gastroesophageal reflux;HP:0001250|Seizures;HP:0002459|Dysautonomia;HP:0001558|Decreased fetal movement;HP:0003006|Neuroblastoma;HP:0007110|Central hypoventilation;HP:0010536|Central sleep apnea;HP:0001518|Small for gestational age;HP:0000486|Strabismus;HP:0001562|Oligohydramnios;HP:0002271|Autonomic dysregulation;HP:0001522|Death in infancy;HP:0001561|Polyhydramnios;HP:0001508|Failure to thrive;HP:0001252|Muscular hypotonia;HP:0002251|Aganglionic megacolon;HP:0000407|Sensorineural hearing impairment;HP:0003005|Ganglioneuroma;HP:0005957|Breathing dysregulation;HP:0001249|Intellectual disability
short rib-polydactyly syndrome	HP:0000078|Abnormality of the genital system;HP:0000037|Male pseudohermaphroditism;HP:0100736|Abnormality of the soft palate;HP:0001601|Laryngomalacia;HP:0000248|Brachycephaly;HP:0005280|Depressed nasal bridge;HP:0010306|Short thorax;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0005245|Intestinal hypoplasia;HP:0001156|Brachydactyly syndrome;HP:0008678|Renal hypoplasia/aplasia;HP:0007598|Bilateral single transverse palmar creases;HP:0006101|Finger syndactyly;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0002007|Frontal bossing;HP:0002983|Micromelia;HP:0002564|Malformation of the heart and great vessels;HP:0001362|Skull defect;HP:0000316|Hypertelorism;HP:0000158|Macroglossia;HP:0001162|Postaxial hand polydactyly;HP:0000774|Narrow chest;HP:0002120|Cerebral cortical atrophy;HP:0000772|Abnormality of the ribs;HP:0000194|Open mouth;HP:0000008|Abnormality of female internal genitalia;HP:0004331|Decreased skull ossification;HP:0100335|Non-midline cleft lip;HP:0000889|Abnormality of the clavicle;HP:0000175|Cleft palate;HP:0000003|Multicystic kidney dysplasia;HP:0001177|Preaxial hand polydactyly;HP:0000457|Depressed nasal ridge;HP:0003312|Abnormal form of the vertebral bodies;HP:0100627|Displacement of the external urethral meatus;HP:0009738|Abnormality of the antihelix;HP:0003363|Abdominal situs inversus;HP:0000268|Dolichocephaly;HP:0004383|Hypoplastic left heart;HP:0000311|Round face;HP:0005616|Accelerated skeletal maturation;HP:0003100|Slender long bone;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0001669|Transposition of the great arteries;HP:0002566|Intestinal malrotation;HP:0100867|Duodenal stenosis;HP:0000368|Low-set, posteriorly rotated ears;HP:0001732|Abnormality of the pancreas;HP:0000238|Hydrocephalus;HP:0000944|Abnormality of the metaphyses;HP:0008905|Rhizomelia;HP:0001561|Polyhydramnios
penoscrotal transposition	HP:0000047|Hypospadias;HP:0000811|Abnormal external genitalia;HP:0000110|Renal dysplasia;HP:0000078|Abnormality of the genital system;HP:0000286|Epicanthus;HP:0000347|Micrognathia;HP:0007598|Bilateral single transverse palmar creases;HP:0000269|Prominent occiput;HP:0010751|Chin dimple;HP:0100600|Penoscrotal transposition;HP:0000795|Abnormality of the urethra;HP:0000104|Renal agenesis;HP:0000069|Abnormality of the ureter;HP:0000049|Shawl scrotum;HP:0002120|Cerebral cortical atrophy;HP:0006443|Patellar aplasia;HP:0006610|Wide intermamillary distance;HP:0004209|Clinodactyly of the 5th finger;HP:0000768|Pectus carinatum;HP:0001638|Cardiomyopathy
spasmus nutans	HP:0000639|Nystagmus;HP:0000473|Torticollis;HP:0100022|Abnormality of movement
blount disease	HP:0000944|Abnormality of the metaphyses;HP:0010591|Abnormality of the end part of innermost shinbone;HP:0002970|Genu varum;HP:0010886|Osteochondrosis dissecans
bohring-opitz syndrome	HP:0001263|Global developmental delay;HP:0010864|Intellectual disability, severe;HP:0000520|Proptosis;HP:0100874|Thick hair;HP:0002079|Hypoplasia of the corpus callosum;HP:0005487|Prominent metopic ridge;HP:0000545|Myopia;HP:0002119|Ventriculomegaly;HP:0000365|Hearing impairment;HP:0000243|Trigonocephaly;HP:0001376|Limitation of joint mobility;HP:0010306|Short thorax;HP:0007413|Nevus flammeus of the forehead;HP:0000582|Upslanted palpebral fissure;HP:0000369|Low-set ears;HP:0002558|Supernumerary nipple;HP:0000486|Strabismus;HP:0002564|Malformation of the heart and great vessels;HP:0000316|Hypertelorism;HP:0000204|Cleft upper lip;HP:0001522|Death in infancy;HP:0009465|Ulnar deviation of finger;HP:0000774|Narrow chest;HP:0001511|Intrauterine growth retardation;HP:0002120|Cerebral cortical atrophy;HP:0011968|Feeding difficulties;HP:0001773|Short foot;HP:0002020|Gastroesophageal reflux;HP:0001250|Seizures;HP:0000175|Cleft palate;HP:0000077|Abnormality of the kidney;HP:0000593|Abnormality of the anterior chamber;HP:0000293|Full cheeks;HP:0000252|Microcephaly;HP:0000294|Low anterior hairline;HP:0003042|Elbow dislocation;HP:0000664|Synophrys;HP:0000191|Accessory oral frenulum;HP:0001508|Failure to thrive;HP:0000926|Platyspondyly;HP:0000431|Wide nasal bridge;HP:0000023|Inguinal hernia;HP:0001305|Dandy-Walker malformation;HP:0006610|Wide intermamillary distance;HP:0000278|Retrognathia;HP:0000998|Hypertrichosis;HP:0001883|Talipes;HP:0000488|Retinopathy;HP:0000444|Convex nasal ridge;HP:0002566|Intestinal malrotation;HP:0004422|Biparietal narrowing;HP:0009891|Underdeveloped supraorbital ridges;HP:0001732|Abnormality of the pancreas;HP:0100490|Camptodactyly of finger;HP:0001561|Polyhydramnios
linear iga dermatosis	HP:0000421|Epistaxis;HP:0009725|Bladder neoplasm;HP:0000155|Oral ulcer;HP:0002960|Autoimmunity;HP:0002037|Inflammation of the large intestine;HP:0000989|Pruritus;HP:0009726|Renal neoplasm;HP:0200034|Papule;HP:0008066|Abnormal blistering of the skin
aggressive systemic mastocytosis	HP:0100495|Mastocytosis;HP:0002094|Dyspnea;HP:0005558|Chronic leukemia;HP:0012378|Fatigue;HP:0100845|Anaphylactic shock;HP:0002653|Bone pain;HP:0002027|Abdominal pain;HP:0001824|Weight loss;HP:0000217|Xerostomia;HP:0002099|Asthma;HP:0002829|Arthralgia;HP:0002716|Lymphadenopathy;HP:0001882|Leukopenia;HP:0002014|Diarrhea;HP:0002113|Pulmonary infiltrates;HP:0002028|Chronic diarrhea;HP:0002017|Nausea and vomiting;HP:0002615|Hypotension;HP:0000739|Anxiety;HP:0001903|Anemia;HP:0002024|Malabsorption;HP:0001876|Pancytopenia;HP:0005547|Myeloproliferative disorder;HP:0000975|Hyperhidrosis;HP:0011001|Increased bone mineral density;HP:0002665|Lymphoma;HP:0011675|Arrhythmia;HP:0002757|Recurrent fractures;HP:0000939|Osteoporosis;HP:0100242|Sarcoma;HP:0002240|Hepatomegaly;HP:0001744|Splenomegaly;HP:0001394|Cirrhosis;HP:0005561|Abnormality of bone marrow cell morphology;HP:0002488|Acute leukemia;HP:0001695|Cardiac arrest;HP:0000716|Depression;HP:0000989|Pruritus;HP:0002039|Anorexia;HP:0001880|Eosinophilia
drug rash with eosinophilia and systemic symptoms	HP:0012733|Macule;HP:0002094|Dyspnea;HP:0001824|Weight loss;HP:0002383|Encephalitis;HP:0001970|Tubulointerstitial nephritis;HP:0006554|Acute hepatic failure;HP:0010783|Erythema;HP:0000083|Renal insufficiency;HP:0002716|Lymphadenopathy;HP:0100646|Thyroiditis;HP:0100326|Immunologic hypersensitivity;HP:0009830|Peripheral neuropathy;HP:0002113|Pulmonary infiltrates;HP:0100827|Lymphocytosis;HP:0030249|Enanthema;HP:0001019|Erythroderma;HP:0001945|Fever;HP:0012819|Myocarditis;HP:0006515|Interstitial pneumonitis;HP:0012735|Cough;HP:0000988|Skin rash;HP:0002910|Elevated hepatic transaminases;HP:0001695|Cardiac arrest;HP:0000100|Nephrotic syndrome;HP:0012115|Hepatitis;HP:0100665|Angioedema;HP:0200039|Pustule;HP:0001880|Eosinophilia
gangliocytoma	HP:0001317|Abnormality of the cerebellum;HP:0000845|Growth hormone excess;HP:0003005|Ganglioneuroma;HP:0011761|Pituitary null cell adenoma;HP:0001262|Excessive daytime somnolence;HP:0002591|Polyphagia;HP:0003401|Paresthesia;HP:0040086|Abnormal prolactin level;HP:0010302|Spinal cord tumor;HP:0003396|Syringomyelia;HP:0006767|Pituitary prolactin cell adenoma;HP:0007359|Focal seizures;HP:0000975|Hyperhidrosis;HP:0002650|Scoliosis;HP:0000726|Dementia;HP:0002363|Abnormality of brainstem morphology;HP:0011749|Adrenocorticotropic hormone excess;HP:0005616|Accelerated skeletal maturation;HP:0000802|Impotence;HP:0012377|Hemianopsia;HP:0000141|Amenorrhea;HP:0030018|Decreased female libido;HP:0012503|Abnormality of the pituitary gland;HP:0002460|Distal muscle weakness;HP:0100006|Neoplasm of the central nervous system;HP:0002315|Headache
gnathodiaphyseal dysplasia	HP:0000938|Decreased bone mineral density;HP:0006487|Bowing of the long bones;HP:0012802|Broad jaw;HP:0002650|Scoliosis;HP:0002659|Increased tendency to fractures;HP:0000938|Osteopenia;HP:0005045|Diaphyseal cortical sclerosis;HP:0002757|Recurrent fractures;HP:0007626|Mandibular osteomyelitis;HP:0000935|Thickened cortex of long bones;HP:0006487|Camptomelia
kimura disease	HP:0002729|Follicular hyperplasia;HP:0010286|Abnormality of the salivary glands;HP:0002716|Lymphadenopathy;HP:0003212|Increased IgE level;HP:0001880|Eosinophilia
palatopharyngeal incompetence	HP:0000220|Velopharyngeal insufficiency;HP:0001608|Voice abnormality
thymic tumor	HP:0001892|Abnormal bleeding;HP:0002463|Language impairment;HP:0100634|Neuroendocrine neoplasm;HP:0002094|Dyspnea;HP:0003473|Fatigable weakness;HP:0002721|Immunodeficiency;HP:0100521|Neoplasm of the thymus;HP:0100721|Mediastinal lymphadenopathy;HP:0002015|Dysphagia;HP:0001695|Cardiac arrest;HP:0002960|Autoimmunity;HP:0002516|Increased intracranial pressure;HP:0006597|Diaphragmatic paralysis;HP:0100749|Chest pain;HP:0002315|Headache;HP:0002961|Dysgammaglobulinemia;HP:0012735|Cough;HP:0000508|Ptosis;HP:0001701|Pericarditis;HP:0100540|Palpebral edema;HP:0000969|Edema
thalidomide embryopathy	HP:0004059|Radial club hand;HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0001171|Split hand;HP:0001177|Preaxial hand polydactyly;HP:0009813|Upper limb phocomelia;HP:0001199|Triphalangeal thumb;HP:0000356|Abnormality of the outer ear;HP:0000855|Insulin resistance;HP:0002257|Chronic rhinitis;HP:0002564|Malformation of the heart and great vessels;HP:0002991|Abnormality of the fibula;HP:0000365|Hearing impairment;HP:0004322|Short stature;HP:0006507|Aplasia/hypoplasia of the humerus;HP:0006495|Aplasia/Hypoplasia of the ulna;HP:0009892|Anotia;HP:0005613|Aplasia/hypoplasia of the femur
autosomal recessive hypohidrotic ectodermal dysplasia	HP:0001596|Alopecia;HP:0000958|Dry skin;HP:0000685|Hypoplasia of teeth;HP:0000966|Hypohidrosis;HP:0006482|Abnormality of dental morphology;HP:0002213|Fine hair;HP:0001595|Abnormality of the hair;HP:0001231|Abnormality of the fingernails;HP:0006323|Premature loss of primary teeth;HP:0008388|Abnormality of the toenails
dyggve-melchior-clausen disease	HP:0001263|Global developmental delay;HP:0000470|Short neck;HP:0003521|Disproportionate short-trunk short stature;HP:0003498|Disproportionate short stature;HP:0005930|Abnormality of epiphysis morphology;HP:0008897|Postnatal growth retardation;HP:0003311|Hypoplasia of the odontoid process;HP:0010306|Short thorax;HP:0002652|Skeletal dysplasia;HP:0003307|Hyperlordosis;HP:0002167|Neurological speech impairment;HP:0003019|Abnormality of the wrist;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0003272|Abnormality of the hip bone;HP:0002808|Kyphosis;HP:0007018|Attention deficit hyperactivity disorder;HP:0000926|Platyspondyly;HP:0002857|Genu valgum;HP:0003416|Spinal canal stenosis;HP:0001249|Intellectual disability;HP:0000717|Autism;HP:0002867|Abnormality of the ilium;HP:0003834|Shoulder dislocation;HP:0001387|Joint stiffness;HP:0002827|Hip dislocation;HP:0000280|Coarse facial features;HP:0000768|Pectus carinatum;HP:0000944|Abnormality of the metaphyses;HP:0002983|Micromelia;HP:0000340|Sloping forehead
sheehan syndrome	HP:0000863|Central diabetes insipidus;HP:0008202|Prolactin deficiency;HP:0011734|Central adrenal insufficiency;HP:0011748|Adrenocorticotropic hormone deficiency;HP:0001278|Orthostatic hypotension;HP:0002019|Constipation;HP:0007987|Progressive visual field defects;HP:0012432|Chronic fatigue;HP:0001662|Bradycardia;HP:0002225|Sparse pubic hair;HP:0030907|Thunderclap headache;HP:0000622|Blurred vision;HP:0008163|Decreased circulating cortisol level;HP:0000876|Oligomenorrhea;HP:0002829|Arthralgia;HP:0002018|Nausea;HP:0002215|Sparse axillary hair;HP:0002902|Hyponatremia;HP:0000872|Hashimoto thyroiditis;HP:0000871|Panhypopituitarism;HP:0001895|Normochromic anemia;HP:0001943|Hypoglycemia;HP:0000407|Sensorineural hearing impairment;HP:0003158|Hyposthenuria;HP:0012504|Abnormal size of pituitary gland;HP:0003493|Antinuclear antibody positivity;HP:0003187|Breast hypoplasia;HP:0001259|Coma;HP:0011735|Adrenocorticotropin deficient adrenal insufficiency;HP:0030016|Dyspareunia;HP:0000709|Psychosis;HP:0000651|Diplopia;HP:0001962|Palpitations;HP:0000802|Impotence;HP:0004396|Poor appetite;HP:0030018|Decreased female libido;HP:0001513|Obesity;HP:0002321|Vertigo;HP:0000141|Amenorrhea;HP:0001324|Muscle weakness;HP:0000958|Dry skin;HP:0008213|Gonadotropin deficiency;HP:0008214|Decreased serum estradiol;HP:0007041|Chronic lymphocytic meningitis;HP:0000980|Pallor;HP:0002315|Headache;HP:0008240|Secondary growth hormone deficiency;HP:0008245|Pituitary hypothyroidism;HP:0025143|Chills
pulmonary arteriovenous fistulas	HP:0000961|Cyanosis;HP:0100759|Finger clubbing;HP:0100760|Clubbing of toes;HP:0004952|Pulmonary arteriovenous fistulas
cleft soft palate	HP:0000185|Cleft velum
chromosome 18p deletion syndrome	HP:0000028|Cryptorchidism;HP:0004322|Stature below 3rd percentile;HP:0000311|Round facial shape;HP:0000054|Short penis;HP:0001263|Developmental retardation;HP:0000400|Large ears;HP:0001518|Small for gestational age;HP:0000218|Increased palatal height;HP:0000347|Hypoplasia of mandible;HP:0009466|Radially deviated phalanges;HP:0008734|Decreased testicular size;HP:0001332|Dystonia;HP:0000431|Broad nasal root;HP:0000316|Increased distance between eye sockets;HP:0000133|Mixed gonadal dysgenesis;HP:0030084|Clinodactyly;HP:0000692|Malpositioned teeth;HP:0001249|Mental retardation;HP:0005989|Excess neck skin
matthew-wood syndrome	HP:0000028|Cryptorchidism;HP:0002089|Hypoplastic lungs;HP:0000581|Blepharophimosis;HP:0002627|Right aortic arch with mirror image branching;HP:0000347|Hypoplasia of mandible;HP:0004935|Pulmonary atresia;HP:0005944|Bilateral pulmonary agenesis;HP:0000089|Small kidneys;HP:0005156|Small left heart atrium;HP:0001629|Ventricular septal defects;HP:0004322|Stature below 3rd percentile;HP:0007633|Abnormally small eyeball on both sides;HP:0000369|Low-set ears;HP:0001680|Coarctation of aorta;HP:0000126|Hydronephrosis;HP:0000013|Underdeveloped uterus;HP:0001636|Tetrology of fallot;HP:0000776|Diaphragmatic hernia;HP:0000125|Pelvic kidney;HP:0001642|Pulmonic stenosis;HP:0001252|Hypotonia;HP:0006270|Hypoplastic spleen;HP:0000528|Absence of eyeballs;HP:0001643|Persistent ductus arteriosus;HP:0001750|Single ventricle;HP:0000813|Bicornuate uterus;HP:0001660|Common arterial trunk;HP:0000431|Broad nasal root;HP:0005311|Agenesis of pulmonary vessels;HP:0004712|Abnormal rotation of the kidneys;HP:0000023|Inguinal hernia;HP:0001511|Prenatal onset growth retardation;HP:0000085|Horseshoe kidney;HP:0002187|Intellectual disability, profound;HP:0009110|Diaphragmatic eventration;HP:0001631|Atria septal defect;HP:0002093|progressive respiratory failure
hemangioma-thrombocytopenia syndrome	HP:0001937|Microangiopathic hemolytic anemia;HP:0001028|Strawberry mark;HP:0001873|Low platelet count;HP:0004308|Ventricular arrhythmia;HP:0002153|Elevated serum potassium levels
glycogen storage disease ib	HP:0002240|Enlarged liver;HP:0000105|Renal enlargement;HP:0000155|Oral ulcer;HP:0000823|Pubertal delay;HP:0000097|focal glomerulosclerosis;HP:0002910|Elevated transaminases;HP:0000093|Proteinuria;HP:0012213|Reduced creatinine clearance;HP:0001997|Gout;HP:0004322|Stature below 3rd percentile;HP:0000295|Doll-like facies;HP:0000822|Hypertension;HP:0001943|Hypoglycemia;HP:0001538|Protuberant abdomen;HP:0000991|Xanthomata;HP:0001402|Hepatocellular carcinoma;HP:0002718|Recurrent pyogenic infections;HP:0003128|Lactic acidosis;HP:0001733|Pancreatic inflammation;HP:0003077|Hyperlipidemia;HP:0000939|Osteoporosis;HP:0001875|Neutropenia;HP:0000787|Renal calculi;HP:0000660|Lipemia retinalis
mitochondrial complex iv deficiency	HP:0003109|Hyperphosphaturia;HP:0002240|Enlarged liver;HP:0003688|Decreased skeletal muscle cytochrome c oxidase activity;HP:0002098|Respiratory distress;HP:0000093|Proteinuria;HP:0002490|Increased CSF lactate;HP:0000648|Optic-nerve degeneration;HP:0000508|Drooping upper eyelid;HP:0001251|Ataxia;HP:0000124|Renal tubular defect;HP:0000580|Pigmentary retinopathy;HP:0001639|Hypertrophic cardiomyopathy;HP:0001270|Motor retardation;HP:0001903|Anemia;HP:0001249|Mental retardation;HP:0002747|Respiratory distress due to muscle weakness;HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0006565|Increased hepatocellular lipid droplets;HP:0001263|Developmental retardation;HP:0002875|Exertional dyspnea;HP:0003128|Lactic acidosis;HP:0001410|Decreased liver function;HP:0003355|Aminoaciduria;HP:0012240|Increased intramyocellular lipid droplets;HP:0001508|Weight faltering;HP:0003546|Exercise intolerance;HP:0003076|Glucosuria;HP:0000407|sensorineural hearing loss;HP:0001994|'de toni-fanconi-debre' syndrome;HP:0002151|Increased serum lactate
sanfilippo syndrome type a	HP:0001387|Stiff joints;HP:0002208|Coarse hair texture;HP:0001744|Splenomegaly;HP:0002240|Enlarged liver;HP:0001507|Abnormal growth;HP:0001249|Mental retardation;HP:0001670|Asymmetric septal hypertrophy;HP:0001250|Seizures;HP:0000900|Thickened ribs;HP:0003309|Ovoid thoracolumbar vertebrae;HP:0002014|Diarrhea;HP:0000943|Dysostosis multiplex;HP:0000365|Hearing impairment;HP:0001007|Hirsutism;HP:0002159|Heparan sulfate excretion in urine;HP:0000280|Coarse facial features;HP:0002788|Recurrent upper respiratory infection;HP:0000250|Dense skull cap;HP:0002360|Sleep disturbance;HP:0000664|Unibrow;HP:0000752|Hyperactive behavior
mucopolysaccharidosis type iiib	HP:0002240|Enlarged liver;HP:0000943|Dysostosis multiplex;HP:0000365|Hearing impairment;HP:0002344|Progressive neurologic deterioration;HP:0001387|Stiff joints;HP:0001670|Asymmetric septal hypertrophy;HP:0000900|Thickened ribs;HP:0003309|Ovoid thoracolumbar vertebrae;HP:0002014|Diarrhea;HP:0002159|Heparan sulfate excretion in urine;HP:0001249|Mental retardation;HP:0001250|Seizures;HP:0002788|Recurrent upper respiratory infection;HP:0000250|Dense skull cap;HP:0002360|Sleep disturbance;HP:0002208|Coarse hair texture;HP:0001744|Splenomegaly;HP:0001007|Hirsutism;HP:0001640|Increased heart size;HP:0000280|Coarse facial features;HP:0000664|Unibrow;HP:0000752|Hyperactive behavior;HP:0000718|Aggressive behaviour
septooptic dysplasia	HP:0000609|Optic nerve hypoplasia;HP:0004322|Stature below 3rd percentile;HP:0007766|Hypoplastic optic disks;HP:0001263|Developmental retardation;HP:0001331|Agenesis of the septum pellucidum;HP:0009381|Hypoplastic fingers;HP:0000873|Diabetes insipidus;HP:0010442|Polydactyly;HP:0000824|Growth hormone deficiency;HP:0001274|Absent corpus callosum;HP:0010627|Anterior pituitary hypoplasia
congenital sucrase-isomaltase deficiency	HP:0000787|Renal calculi;HP:0003270|Abdominal distention;HP:0002013|Vomiting;HP:0001939|Laboratory abnormality;HP:0002014|Diarrhea;HP:0002024|Intestinal malabsorption;HP:0011848|Abdominal colic
hyperalphalipoproteinemia	HP:0012184|Hyperalphalipoproteinemia
gne myopathy	HP:0003691|Scapular winging;HP:0100284|EMG: myotonic discharges;HP:0010628|Facial palsy;HP:0100299|Muscle fiber inclusion bodies;HP:0003791|Deposits immunoreactive to beta-amyloid protein;HP:0007210|Lower limb amyotrophy;HP:0007340|Lower limb muscle weakness;HP:0012515|Hip flexor weakness;HP:0001436|Abnormality of the foot musculature;HP:0002460|Weakness of distal muscles;HP:0008180|Mildly elevated creatine phosphokinase;HP:0003724|Shoulder girdle muscle atrophy;HP:0003376|Steppage gait;HP:0003547|Shoulder girdle muscle weakness;HP:0001288|Gait disturbance;HP:0003236|Elevated creatine kinase;HP:0003693|Muscle atrophy, distal;HP:0003805|Rimmed vacuoles;HP:0009027|Foot dorsiflexor weakness;HP:0040047|Abnormality of the right hemidiaphragm;HP:0008963|Tibialis muscle weakness;HP:0003458|EMG: myopathic abnormalities;HP:0006251|Limited wrist extension;HP:0001638|Cardiomyopathy;HP:0001324|Muscle weakness;HP:0012548|Fatty replacement of skeletal muscle;HP:0003438|Absent Achilles reflex;HP:0003731|Quadriceps muscle weakness;HP:0009077|Weakness of long finger extensor muscles;HP:0006467|Limited shoulder movement;HP:0000821|Hypothyroidism;HP:0003557|Increased variability in muscle fiber diameter;HP:0030007|EMG: positive sharp waves
spinocerebellar ataxia 2	HP:0001310|Dysmetria;HP:0000640|Gaze-evoked nystagmus;HP:0002503|Spinocerebellar tract degeneration;HP:0002063|Muscle rigidity;HP:0002839|Urinary bladder sphincter dysfunction;HP:0000657|Oculomotor apraxia;HP:0002495|Decreased vibration sense;HP:0001336|Myoclonic jerks;HP:0000602|Ophthalmoplegia;HP:0002542|Olivopontocerebellar degeneration;HP:0001257|Spasticity;HP:0000514|Slow eye movements;HP:0000641|Dysmetric eye movements;HP:0002174|Postural tremor;HP:0001252|Hypotonia;HP:0002070|Appendicular ataxia;HP:0002067|Bradykinesia;HP:0002073|Cerebellar ataxia, progressive;HP:0001151|Impaired horizontal smooth pursuit;HP:0003693|Muscle atrophy, distal;HP:0001265|Decreased tendon reflexes;HP:0002075|Dysdiadochokinesis;HP:0000726|Dementia;HP:0002015|Swallowing difficulty;HP:0002380|Muscle twitch;HP:0002172|Postural instability;HP:0000510|Retinitis pigmentosa;HP:0002198|Enlarged fourth ventricle;HP:0001260|Dysarthric speech
sea-blue histiocyte disease	HP:0001744|Splenomegaly;HP:0000478|Abnormal eye;HP:0002221|Absent axillary hair;HP:0001394|Hepatic cirrhosis;HP:0001873|Low platelet count;HP:0001982|Sea-blue histiocytosis
atypical rett syndrome	HP:0000787|Nephrolithiasis;HP:0002119|Ventriculomegaly;HP:0000365|Hearing impairment;HP:0002213|Fine hair;HP:0002376|Developmental regression;HP:0000445|Wide nose;HP:0001257|Spasticity;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0000154|Wide mouth;HP:0000343|Long philtrum;HP:0002120|Cerebral cortical atrophy;HP:0012471|Thick vermilion border;HP:0002020|Gastroesophageal reflux;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0001163|Abnormality of the metacarpal bones;HP:0000252|Microcephaly;HP:0100022|Abnormality of movement;HP:0009896|Abnormality of the antitragus;HP:0004209|Clinodactyly of the 5th finger;HP:0001249|Intellectual disability;HP:0100490|Camptodactyly of finger;HP:0001231|Abnormality of the fingernails;HP:0000430|Underdeveloped nasal alae
well-differentiated liposarcoma	HP:0012211|Abnormal renal physiology;HP:0001482|Subcutaneous nodule;HP:0002579|Gastrointestinal dysmotility
autosomal dominant brachyolmia	HP:0000944|Abnormality of the metaphyses;HP:0002751|Kyphoscoliosis;HP:0004322|Short stature;HP:0000926|Platyspondyly;HP:0004570|Increased vertebral height;HP:0010306|Short thorax
syndactyly type 2	HP:0001830|Postaxial foot polydactyly;HP:0001841|Preaxial foot polydactyly;HP:0004691|2-3 toe syndactyly;HP:0001163|Abnormality of the metacarpal bones;HP:0009773|Symphalangism affecting the phalanges of the hand;HP:0001852|Sandal gap;HP:0100490|Camptodactyly of finger;HP:0004279|Short palm;HP:0004209|Clinodactyly of the 5th finger;HP:0006097|3-4 finger syndactyly;HP:0001773|Short foot;HP:0100260|Mesoaxial polydactyly
irida syndrome	HP:0000962|Hyperkeratosis;HP:0001406|Intrahepatic cholestasis;HP:0001891|Iron-deficiency anemia;HP:0002242|Abnormality of the intestine;HP:0009830|Peripheral neuropathy;HP:0004840|Hypochromic microcytic anemia;HP:0011967|Hypocupremia;HP:0000980|Pallor;HP:0008064|Ichthyosis;HP:0001249|Intellectual disability
autosomal dominant popliteal pterygium syndrome	HP:0000028|Cryptorchidism;HP:0009755|Eyelid synechiae;HP:0009758|Pyramidal skinfold extending from the base to the top of the nails;HP:0009757|Intercrural pterygium;HP:0000453|Choanal atresia;HP:0001770|Toe syndactyly;HP:0008288|Nonketotic hyperglycinemia;HP:0001171|Split hand;HP:0009754|Alveolar synechiae;HP:0000347|Micrognathia;HP:0006101|Finger syndactyly;HP:0003298|Spina bifida occulta;HP:0000013|Underdeveloped uterus;HP:0001762|Talipes equinovarus;HP:0000204|Cleft upper lip;HP:0000062|Ambiguous genitalia;HP:0000772|Abnormality of the ribs;HP:0000175|Palatoschisis;HP:0000059|Hypoplastic labia majora;HP:0100335|Non-midline cleft lip;HP:0000048|Bifid scrotum;HP:0000175|Cleft palate;HP:0002650|Scoliosis;HP:0000046|Scrotal hypoplasia;HP:0000196|Lower lip pit;HP:0000726|Dementia;HP:0002230|Generalized hirsutism;HP:0100267|Lip pit;HP:0000046|Hypoplastic scrotum;HP:0001597|Abnormality of the nail;HP:0010554|Cutaneous syndactyly of hands;HP:0000219|Thin upper lip vermilion;HP:0001387|Joint stiffness;HP:0009755|Ankyloblepharon;HP:0008726|Underdeveloped vagina;HP:0001328|Specific learning disability;HP:0009754|Fibrous syngnathia;HP:0009756|Popliteal pterygium
coloboma, ocular	HP:0007748|Irido-fundal coloboma
cardiomyopathy, dilated, 3b	HP:0001644|Congestive cardiomyopathy
infantile onset spinocerebellar ataxia	HP:0001251|Ataxia;HP:0100022|Abnormality of movement;HP:0000365|Hearing impairment;HP:0000648|Optic atrophy;HP:0001315|Reduced tendon reflexes;HP:0002270|Abnormality of the autonomic nervous system;HP:0000602|Ophthalmoplegia
ehlers-danlos syndrome, hypermobility type	HP:0012378|Fatigue;HP:0002019|Constipation;HP:0001482|Subcutaneous nodule;HP:0002579|Gastrointestinal dysmotility;HP:0005294|Arterial dissection;HP:0001373|Joint dislocation;HP:0002645|Wormian bones;HP:0001376|Limitation of joint mobility;HP:0000974|Hyperextensible skin;HP:0002797|Osteolysis;HP:0000508|Ptosis;HP:0012732|Anorectal anomaly;HP:0000563|Keratoconus;HP:0000963|Thin skin;HP:0000987|Atypical scarring of skin;HP:0002829|Arthralgia;HP:0003326|Myalgia;HP:0003401|Paresthesia;HP:0001537|Umbilical hernia;HP:0003019|Abnormality of the wrist;HP:0005692|Joint hyperflexibility;HP:0002017|Nausea and vomiting;HP:0000164|Abnormality of the teeth;HP:0010318|Aplasia/Hypoplasia of the abdominal wall musculature;HP:0000140|Abnormality of the menstrual cycle;HP:0002024|Malabsorption;HP:0002020|Gastroesophageal reflux;HP:0000286|Epicanthus;HP:0000230|Gingivitis;HP:0100823|Genital hernia;HP:0002650|Scoliosis;HP:0003042|Elbow dislocation;HP:0005293|Venous insufficiency;HP:0011675|Arrhythmia;HP:0100550|Tendon rupture;HP:0002758|Osteoarthritis;HP:0000762|Decreased nerve conduction velocity;HP:0001760|Abnormality of the foot;HP:0000023|Inguinal hernia;HP:0002076|Migraine;HP:0002360|Sleep disturbance;HP:0100645|Cystocele;HP:0000168|Abnormality of the gingiva;HP:0000691|Microdontia;HP:0002321|Vertigo;HP:0001097|Keratoconjunctivitis sicca;HP:0000977|Soft skin;HP:0002827|Hip dislocation;HP:0000716|Depression;HP:0001763|Pes planus;HP:0001063|Acrocyanosis;HP:0000212|Gingival overgrowth;HP:0000174|Abnormality of the palate;HP:0000144|Decreased fertility;HP:0002104|Apnea;HP:0005111|Dilatation of the ascending aorta
oculocerebrocutaneous syndrome	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0002079|Hypoplasia of the corpus callosum;HP:0002334|Abnormality of the cerebellar vermis;HP:0002119|Ventriculomegaly;HP:0001144|Orbital cysts;HP:0000365|Hearing impairment;HP:0001321|Cerebellar hypoplasia;HP:0000625|Cleft eyelid;HP:0001274|Absent corpus callosum;HP:0000508|Ptosis;HP:0001260|Dysarthria;HP:0001374|Congenital hip dislocation;HP:0006101|Finger syndactyly;HP:0000154|Wide mouth;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0001053|Hypopigmented skin patches;HP:0000921|Missing ribs;HP:0001362|Skull defect;HP:0000316|Hypertelorism;HP:0000772|Abnormality of the ribs;HP:0004374|Hemiplegia/hemiparesis;HP:0000175|Palatoschisis;HP:0010185|Aplasia/Hypoplasia of the distal phalanges of the toes;HP:0000384|Preauricular skin tag;HP:0001249|Mental retardation;HP:0000612|Iris coloboma;HP:0007115|Orbital encephalocele;HP:0002282|Heterotopias;HP:0002006|Facial cleft;HP:0001250|Seizures;HP:0001305|Dandy-Walker cyst;HP:0000324|Asymmetry of face;HP:0007957|Corneal opacity;HP:0000528|Absence of eyeballs;HP:0003191|Notched nasal alae;HP:0001305|Dandy-Walker malformation;HP:0001249|Intellectual disability;HP:0000202|Oral cleft;HP:0001596|Hair loss;HP:0001231|Abnormality of the fingernails;HP:0010609|Skin tags;HP:0001883|Talipes;HP:0000625|Eyelid coloboma;HP:0001596|Alopecia;HP:0007510|Focal dermal aplasia/hypoplasia;HP:0100777|Exostoses;HP:0002126|Polymicrogyria;HP:0000568|Abnormally small globe of eye;HP:0000765|Abnormality of the thorax;HP:0001161|Hand polydactyly;HP:0008572|External ear malformation;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0000238|Hydrocephalus;HP:0009882|Short distal phalanx of finger;HP:0000776|Congenital diaphragmatic hernia
stuve-wiedemann syndrome	HP:0007610|Blotching pigmentation of the skin;HP:0008824|Small iliac bodies;HP:0001611|Hypernasal speech;HP:0002089|Hypoplastic lungs;HP:0001181|Adducted thumbs;HP:0000321|Square face;HP:0002980|Bowed femura;HP:0003196|Short nose;HP:0000205|Tightly closed lips;HP:0000347|Hypoplasia of mandible;HP:0011800|Midface, flat;HP:0007759|Cloudy cornea;HP:0000682|Enamel abnormality;HP:0000470|Decreased cervical height;HP:0000954|Simian creases;HP:0000963|Thin skin;HP:0004322|Stature below 3rd percentile;HP:0005736|Short tibia;HP:0000369|Low-set ears;HP:0002092|Pulmonary artery hypertension;HP:0100865|Broad ischia;HP:0006380|Contractures of knees;HP:0002007|Frontal protruberance;HP:0009465|Medially deviated fingers;HP:0010298|Smooth tongue;HP:0003015|Metaphyseal splaying;HP:0011968|Feeding difficulties;HP:0005830|Flexion contracture of toe;HP:0001252|Hypotonia;HP:0002982|Bowed tibia;HP:0007328|Decreased pain sensation;HP:0012745|Decreased height of palpebral fissure;HP:0002650|Scoliosis;HP:0001609|Hoarseness;HP:0000939|Osteoporosis;HP:0006844|Absent patellar reflexes;HP:0004964|Hypertrophy of the pulmonary artery wall;HP:0002015|Swallowing difficulty;HP:0002486|Myotonia;HP:0000935|Thickened cortices of long bones;HP:0004684|Talipes valgus;HP:0000883|Slender ribs;HP:0012810|Wide base of nose;HP:0002987|Elbow contracture;HP:0002459|Dysautonomia;HP:0009803|Hypoplastic/small phalanges of the hand;HP:0001883|Talipes;HP:0000272|Depressed malar region;HP:0005089|Abnormal metaphyseal trabeculation;HP:0004980|Rarefaction of the metaphyses;HP:0002756|Pathologic fracture;HP:0001954|Increased body temperature, episodic;HP:0009185|Contracture of the proximal interphalangeal joint of the 5th finger;HP:0002104|Absence of spontaneous respiration;HP:0002093|progressive respiratory failure
iniencephaly	HP:0000160|Narrow mouth;HP:0000078|Abnormality of the genital system;HP:0002023|Anal atresia;HP:0001360|Holoprosencephaly;HP:0001838|Rocker bottom foot;HP:0000776|Congenital diaphragmatic hernia;HP:0001339|Lissencephaly;HP:0002247|Duodenal atresia;HP:0001543|Gastroschisis;HP:0003396|Syringomyelia;HP:0000369|Low-set ears;HP:0002564|Malformation of the heart and great vessels;HP:0003307|Hyperlordosis;HP:0001762|Talipes equinovarus;HP:0000104|Renal agenesis;HP:0012294|Abnormality of the occipital bone;HP:0002804|Arthrogryposis multiplex congenita;HP:0002414|Spina bifida;HP:0000476|Cystic hygroma;HP:0009939|Mandibular aplasia;HP:0010301|Spinal dysraphism;HP:0001539|Omphalocele;HP:0002475|Myelomeningocele;HP:0001305|Dandy-Walker malformation;HP:0000202|Oral cleft;HP:0008465|Absent vertebrae;HP:0008905|Rhizomelia;HP:0002084|Encephalocele;HP:0000238|Hydrocephalus;HP:0002323|Anencephaly;HP:0001561|Polyhydramnios
narcolepsy without cataplexy	HP:0000738|Hallucinations;HP:0000708|Behavioral abnormality;HP:0001262|Excessive daytime somnolence;HP:0100785|Insomnia;HP:0002360|Sleep disturbance
diffuse neonatal hemangiomatosis	HP:0008678|Renal hypoplasia/aplasia;HP:0003072|Hypercalcemia;HP:0001789|Hydrops fetalis;HP:0000142|Abnormality of the vagina;HP:0001873|Thrombocytopenia;HP:0000083|Renal insufficiency;HP:0001928|Abnormality of coagulation;HP:0002564|Malformation of the heart and great vessels;HP:0001608|Abnormality of the voice;HP:0007461|Hemangiomatosis;HP:0100761|Visceral angiomatosis;HP:0001643|Patent ductus arteriosus;HP:0000929|Abnormality of the skull;HP:0001622|Premature birth;HP:0002240|Hepatomegaly;HP:0001541|Ascites;HP:0001903|Anemia;HP:0001939|Abnormality of metabolism/homeostasis;HP:0001561|Polyhydramnios
primary intestinal lymphangiectasia	HP:0002202|Pleural effusion;HP:0012378|Fatigue;HP:0002027|Abdominal pain;HP:0001824|Weight loss;HP:0001287|Meningitis;HP:0001004|Lymphedema;HP:0200043|Verrucae;HP:0001698|Pericardial effusion;HP:0001789|Hydrops fetalis;HP:0002014|Diarrhea;HP:0012191|B-cell lymphoma;HP:0004313|Decreased antibody level in blood;HP:0002017|Nausea and vomiting;HP:0001888|Lymphopenia;HP:0100676|Vaginal lymphocele;HP:0002024|Malabsorption;HP:0001250|Seizures;HP:0010741|Edema of the lower limbs;HP:0002901|Hypocalcemia;HP:0000939|Osteoporosis;HP:0003075|Hypoproteinemia;HP:0100763|Abnormality of the lymphatic system;HP:0001508|Failure to thrive;HP:0002595|Ileus;HP:0002721|Immunodeficiency;HP:0001891|Iron deficiency anemia;HP:0001072|Thickened skin;HP:0100758|Gangrene;HP:0012281|Chylous ascites;HP:0003073|Hypoalbuminemia
ligneous conjunctivitis	HP:0001263|Global developmental delay;HP:0000123|Nephritis;HP:0000787|Nephrolithiasis;HP:0002788|Recurrent upper respiratory tract infections;HP:0001321|Cerebellar hypoplasia;HP:0006532|Recurrent pneumonia;HP:0001600|Abnormality of the larynx;HP:0000618|Blindness;HP:0010280|Stomatitis;HP:0006480|Premature loss of teeth;HP:0000704|Periodontitis;HP:0009926|Increased lacrimation;HP:0002837|Recurrent bronchitis;HP:0200034|Papule;HP:0100776|Recurrent pharyngitis;HP:0100724|Hypercoagulability;HP:0004386|Gastrointestinal inflammation;HP:0001058|Poor wound healing;HP:0000230|Gingivitis;HP:0000256|Macrocephaly;HP:0000403|Recurrent otitis media;HP:0011328|Abnormality of fontanelles;HP:0005264|Abnormality of the gallbladder;HP:0045026|Abnormality of the mediastinum;HP:0001305|Dandy-Walker malformation;HP:0007717|Chronic irritative conjunctivitis;HP:0030160|Cervicitis;HP:0000504|Abnormality of vision;HP:0001347|Hyperreflexia;HP:0030683|Vaginitis;HP:0000509|Conjunctivitis;HP:0000212|Gingival overgrowth;HP:0001096|Keratoconjunctivitis;HP:0000238|Hydrocephalus;HP:0002588|Duodenal ulcer
fibronectin glomerulopathy	HP:0100820|Glomerulopathy;HP:0010741|Edema of the lower limbs;HP:0001966|Mesangial abnormality;HP:0000100|Nephrotic syndrome;HP:0000822|Hypertension;HP:0003073|Hypoalbuminemia;HP:0001342|Cerebral hemorrhage;HP:0000093|Proteinuria;HP:0002907|Microscopic hematuria;HP:0000083|Renal insufficiency
neutrophil immunodeficiency syndrome	HP:0011990|Abnormality of neutrophil physiology;HP:0001974|Leukocytosis;HP:0001058|Poor wound healing;HP:0002721|Immunodeficiency
laryngomalacia	HP:0002778|Abnormality of the trachea;HP:0002098|Respiratory distress;HP:0001601|Laryngomalacia;HP:0004886|Congenital laryngeal stridor
acrogeria	HP:0000963|Thin skin;HP:0007392|Excessive wrinkled skin;HP:0000347|Micrognathia;HP:0002652|Skeletal dysplasia;HP:0007400|Irregular hyperpigmentation;HP:0004322|Short stature;HP:0000444|Convex nasal ridge;HP:0002650|Scoliosis;HP:0000951|Abnormality of the skin;HP:0002213|Fine hair;HP:0005692|Joint hyperflexibility;HP:0100585|Telangiectasia of the skin;HP:0200042|Skin ulcer;HP:0007495|Prematurely aged appearance;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0100578|Lipoatrophy;HP:0200055|Small hand;HP:0001773|Short foot;HP:0001249|Intellectual disability
achondrogenesis	HP:0000470|Short neck;HP:0003196|Short nose;HP:0000474|Thickened nuchal skin fold;HP:0010306|Short thorax;HP:0001789|Hydrops fetalis;HP:0000347|Micrognathia;HP:0002652|Skeletal dysplasia;HP:0002007|Frontal bossing;HP:0012368|Flat face;HP:0001537|Umbilical hernia;HP:0002564|Malformation of the heart and great vessels;HP:0000343|Long philtrum;HP:0000774|Narrow chest;HP:0004348|Abnormality of bone mineral density;HP:0000476|Cystic hygroma;HP:0000256|Macrocephaly;HP:0000023|Inguinal hernia;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0003510|Severe short stature;HP:0000463|Anteverted nares;HP:0003336|Abnormal enchondral ossification;HP:0002983|Micromelia;HP:0001561|Polyhydramnios
transient neonatal diabetes mellitus	HP:0001263|Global developmental delay;HP:0002186|Apraxia;HP:0005487|Prominent metopic ridge;HP:0000365|Hearing impairment;HP:0001824|Weight loss;HP:0010935|Abnormality of the upper urinary tract;HP:0006476|Abnormality of the pancreatic islet cells;HP:0000124|Renal tubular dysfunction;HP:0001627|Abnormal heart morphology;HP:0001270|Motor delay;HP:0003074|Hyperglycemia;HP:0002919|Ketonuria;HP:0001488|Bilateral ptosis;HP:0001944|Dehydration;HP:0001511|Intrauterine growth retardation;HP:0002804|Arthrogryposis multiplex congenita;HP:0002714|Downturned corners of mouth;HP:0001250|Seizures;HP:0005750|Contractures of the joints of the lower limbs;HP:0001259|Coma;HP:0011106|Hypovolemia;HP:0008255|Transient neonatal diabetes mellitus;HP:0003076|Glycosuria;HP:0001508|Failure to thrive;HP:0002069|Generalized tonic-clonic seizures;HP:0030057|Autoimmune antibody positivity;HP:0001249|Intellectual disability;HP:0002570|Steatorrhea;HP:0012758|Neurodevelopmental delay;HP:0001252|Muscular hypotonia;HP:0002123|Generalized myoclonic seizures
central neurocytoma	HP:0003401|Paresthesia;HP:0001251|Ataxia;HP:0001254|Lethargy;HP:0001259|Coma;HP:0002516|Increased intracranial pressure;HP:0002017|Nausea and vomiting;HP:0002514|Cerebral calcification;HP:0000238|Hydrocephalus;HP:0000360|Tinnitus;HP:0002315|Headache;HP:0003487|Babinski sign;HP:0010576|Intracranial cystic lesion;HP:0007021|Pain insensitivity
jalili syndrome	HP:0000639|Nystagmus;HP:0000705|Amelogenesis imperfecta;HP:0000505|Visual impairment;HP:0000682|Abnormality of dental enamel;HP:0011073|Abnormality of dental color;HP:0000551|Abnormality of color vision;HP:0000613|Photophobia;HP:0000648|Optic atrophy;HP:0007703|Abnormality of retinal pigmentation
cobb syndrome	HP:0001052|Nevus flammeus;HP:0001635|Congestive heart failure;HP:0002829|Arthralgia;HP:0000925|Abnormality of the vertebral column;HP:0100026|Arteriovenous malformation;HP:0002751|Kyphoscoliosis;HP:0000763|Sensory neuropathy;HP:0002143|Abnormality of the spinal cord;HP:0000077|Abnormality of the kidney;HP:0001347|Hyperreflexia;HP:0002390|Spinal arteriovenous malformation;HP:0002653|Bone pain;HP:0002839|Urinary bladder sphincter dysfunction;HP:0002385|Paraparesis;HP:0006773|Cutaneous angiolipomas;HP:0012378|Fatigue;HP:0100761|Visceral angiomatosis;HP:0001014|Angiokeratoma;HP:0100758|Gangrene;HP:0100764|Lymphangioma
sirenomelia	HP:0008678|Renal hypoplasia/aplasia;HP:0001626|Abnormality of the cardiovascular system;HP:0000079|Abnormality of the urinary system;HP:0006501|Aplasia/Hypoplasia of the radius;HP:0010305|Absence of the sacrum;HP:0002023|Anal atresia;HP:0010497|Sirenomelia;HP:0002575|Tracheoesophageal fistula;HP:0000062|Ambiguous genitalia;HP:0002414|Spina bifida
donnai-barrow syndrome	HP:0001263|Global developmental delay;HP:0000520|Proptosis;HP:0003196|Short nose;HP:0000541|Retinal detachment;HP:0000545|Myopia;HP:0001629|Ventricular septal defect;HP:0000358|Posteriorly rotated ears;HP:0005280|Depressed nasal bridge;HP:0000093|Proteinuria;HP:0000337|Broad forehead;HP:0000130|Abnormality of the uterus;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0001537|Umbilical hernia;HP:0000316|Hypertelorism;HP:0000407|Sensorineural hearing impairment;HP:0000612|Iris coloboma;HP:0000494|Downslanted palpebral fissures;HP:0001250|Seizures;HP:0000349|Widow's peak;HP:0000256|Macrocephaly;HP:0000260|Wide anterior fontanel;HP:0001539|Omphalocele;HP:0000813|Bicornuate uterus;HP:0000529|Progressive visual loss;HP:0001249|Intellectual disability;HP:0000556|Retinal dystrophy;HP:0002566|Intestinal malrotation;HP:0000776|Congenital diaphragmatic hernia
brachytelephalangic chondrodysplasia punctata	HP:0000925|Abnormality of the vertebral column;HP:0004322|Stature below 3rd percentile;HP:0000252|Small head circumference;HP:0001263|Developmental retardation;HP:0000518|Cataract;HP:0003196|Short nose;HP:0000420|Short nasal septum;HP:0005280|Flat, nasal bridge;HP:0000458|Anosmia;HP:0000365|Hearing impairment;HP:0009882|Hypoplastic terminal phalanges;HP:0008064|Ichthyosis;HP:0000135|Hypogonadism;HP:0010655|Stippled epiphyses
spondyloepimetaphyseal dysplasia with joint laxity	HP:0001263|Global developmental delay;HP:0000520|Proptosis;HP:0004322|Short stature;HP:0000545|Myopia;HP:0000592|Blue sclerae;HP:0002251|Aganglionic megacolon;HP:0005930|Abnormality of epiphysis morphology;HP:0000218|High palate;HP:0001373|Joint dislocation;HP:0000974|Hyperextensible skin;HP:0002652|Skeletal dysplasia;HP:0003307|Hyperlordosis;HP:0001762|Talipes equinovarus;HP:0005692|Joint hyperflexibility;HP:0000343|Long philtrum;HP:0004279|Short palm;HP:0001773|Short foot;HP:0000175|Cleft palate;HP:0011849|Abnormal bone ossification;HP:0002650|Scoliosis;HP:0003042|Elbow dislocation;HP:0002808|Kyphosis;HP:0000926|Platyspondyly;HP:0001249|Intellectual disability;HP:0100866|Short iliac bones;HP:0001083|Ectopia lentis;HP:0002651|Spondyloepimetaphyseal dysplasia;HP:0100777|Exostoses;HP:0002827|Hip dislocation;HP:0001671|Abnormality of the cardiac septa;HP:0000944|Abnormality of the metaphyses;HP:0002983|Micromelia
methylmalonic acidemia with homocystinuria	HP:0000988|Skin rash;HP:0001263|Global developmental delay;HP:0001250|Seizures;HP:0000708|Behavioral abnormality;HP:0001288|Gait disturbance;HP:0000646|Amblyopia;HP:0000488|Retinopathy;HP:0001254|Lethargy;HP:0012378|Fatigue;HP:0000252|Microcephaly;HP:0002564|Malformation of the heart and great vessels;HP:0100022|Abnormality of movement;HP:0001508|Failure to thrive;HP:0001252|Muscular hypotonia;HP:0000238|Hydrocephalus;HP:0001980|Megaloblastic bone marrow;HP:0011968|Feeding difficulties;HP:0001249|Intellectual disability
rabson-mendenhall syndrome	HP:0003162|Low blood sugar when fasting;HP:0000826|Precocious puberty;HP:0004322|Short stature;HP:0000845|Growth hormone excess;HP:0006288|Advanced eruption of teeth;HP:0007495|Prematurely aged appearance;HP:0000842|Elevated insulin level;HP:0000093|Proteinuria;HP:0010935|Abnormality of the upper urinary tract;HP:0001156|Brachydactyly syndrome;HP:0004322|Stature below 3rd percentile;HP:0000303|Mandibular prognathia;HP:0000958|Xerosis;HP:0001805|Thick nail;HP:0008665|Clitoromegaly;HP:0009830|Peripheral neuropathy;HP:0001943|Hypoglycemia;HP:0000164|Abnormality of the teeth;HP:0000040|Long penis;HP:0001511|Intrauterine growth retardation;HP:0000147|Polycystic ovaries;HP:0002208|Coarse hair;HP:0011998|Postprandial hyperglycemia;HP:0000956|Acanthosis nigricans;HP:0001263|Developmental retardation;HP:0001518|Small for gestational age;HP:0000218|Increased palatal height;HP:0000956|Keratosis nigricans;HP:0003074|High blood glucose;HP:0002230|Generalized hirsutism;HP:0001953|Diabetic ketosis;HP:0012542|Onychauxis;HP:0000820|Abnormality of the thyroid gland;HP:0000998|Hypertrichosis;HP:0000303|Increased size of lower jaw;HP:0010458|Female pseudohermaphroditism;HP:0000958|Dry skin;HP:0000819|Diabetes mellitus;HP:0001072|Thickened skin;HP:0000280|Coarse facial features;HP:0004298|Abnormality of the abdominal wall;HP:0000831|Insulin-resistant diabetes mellitus
filippi syndrome	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0000426|Prominent nasal bridge;HP:0007598|Bilateral single transverse palmar creases;HP:0006101|Finger syndactyly;HP:0003510|Severe short stature;HP:0002007|Frontal bossing;HP:0002357|Dysphasia;HP:0002381|Aphasia;HP:0000252|Microcephaly;HP:0002750|Delayed skeletal maturation;HP:0001328|Specific learning disability;HP:0001249|Intellectual disability;HP:0002300|Mutism;HP:0011220|Prominent forehead;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0000445|Wide nose;HP:0010529|Echolalia;HP:0000430|Underdeveloped nasal alae
acromicric dysplasia	HP:0010049|Metacarpal hypoplasia;HP:0000160|Narrow mouth;HP:0000311|Round facial shape;HP:0001072|Pachydermia;HP:0003300|Oval vertebral bodies;HP:0003196|Short nose;HP:0000463|Nostrils anteverted;HP:0002002|Increased depth of philtrum;HP:0000527|Long eyelashes;HP:0005930|Abnormality of epiphysis morphology;HP:0003026|shortened long tubular bones;HP:0000343|Vertical hyperplasia of philtrum;HP:0001156|Brachydactyly syndrome;HP:0005900|Fifth metacarpal notched on ulnar side;HP:0004279|Hypoplastic hands;HP:0000343|Long philtrum;HP:0003510|Proportionate dwarfism;HP:0004279|Short palm;HP:0002823|Abnormality of the femur;HP:0000179|Plump lower lip;HP:0001609|Hoarse voice;HP:0010049|Short metacarpal;HP:0010579|Cone-shaped epiphyses;HP:0005900|Fifth metacarpal with ulnar notch;HP:0002750|Delayed bone maturation;HP:0001609|Hoarseness;HP:0000762|Decreased nerve conduction velocity;HP:0000311|Round face;HP:0200055|Small hand;HP:0009803|Hypoplastic/small phalanges of the hand;HP:0000179|Thick lower lip vermilion;HP:0003300|Ovoid vertebral bodies;HP:0003510|Severe short stature;HP:0001387|Joint stiffness;HP:0002750|Delayed skeletal maturation;HP:0000160|Small mouth;HP:0001773|Small feet;HP:0000463|Anteverted nares;HP:0000414|Bulbous nose;HP:0000534|Abnormality of the eyebrow
frontonasal dysplasia	HP:0000028|Cryptorchidism;HP:0000456|Bifid nasal tip;HP:0004322|Short stature;HP:0000453|Choanal atresia;HP:0001360|Holoprosencephaly;HP:0011817|Basal encephalocele;HP:0007598|Bilateral single transverse palmar creases;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0002564|Malformation of the heart and great vessels;HP:0000465|Webbed neck;HP:0000316|Hypertelorism;HP:0000384|Preauricular skin tag;HP:0000175|Cleft palate;HP:0000349|Widow's peak;HP:0005469|Flat occiput;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0000405|Conductive hearing impairment;HP:0001249|Intellectual disability;HP:0001363|Craniosynostosis;HP:0000161|Median cleft lip;HP:0100490|Camptodactyly of finger;HP:0000368|Low-set, posteriorly rotated ears;HP:0000238|Hydrocephalus
trimethylaminuria	HP:0006532|Pneumonia, recurrent episodes;HP:0001744|Splenomegaly;HP:0000822|Hypertension;HP:0000716|Depression;HP:0003614|High urine trimethylamine levels;HP:0001875|Neutropenia;HP:0001649|Tachycardia;HP:0001903|Anemia
idiopathic hypersomnia	HP:0100786|Hypersomnia;HP:0001262|Excessive daytime somnolence;HP:0002360|Sleep disturbance
iminoglycinuria	HP:0003108|High urine glycine levels;HP:0000478|Abnormal eye;HP:0003137|Prolinuria;HP:0003080|Elevated urinary hydroxyproline;HP:0001249|Mental retardation
ainhum	HP:0009775|Amniotic constriction ring
epidermal nevus syndrome	HP:0003109|Hyperphosphaturia;HP:0000938|Decreased bone mineral density;HP:0001263|Global developmental delay;HP:0001167|Abnormalities of the fingers;HP:0000826|Precocious puberty;HP:0012032|Lipoma;HP:0006827|Atrophy of the spinal cord;HP:0007206|Hemimegalencephaly;HP:0007199|Progressive spastic paraparesis;HP:0012531|Pain;HP:0000267|Cranial asymmetry;HP:0002944|Thoracolumbar scoliosis;HP:0000953|Hyperpigmentation of the skin;HP:0002176|Spinal cord compression;HP:0000602|Ophthalmoplegia;HP:0003487|Babinski sign;HP:0000750|Delayed speech and language development;HP:0010815|Sebaceous naevus;HP:0007957|Corneal clouding;HP:0004322|Stature below 3rd percentile;HP:0010302|Spinal cord tumor;HP:0001680|Coarctation of aorta;HP:0001780|Abnormality of toe;HP:0011073|Abnormality of dental color;HP:0001010|Hypopigmentation of the skin;HP:0001548|Overgrowth;HP:0001276|Hypertonia;HP:0001249|Mental retardation;HP:0001250|Seizures;HP:0002751|Kyphoscoliosis;HP:0002859|Rhabdomyosarcoma;HP:0001284|Areflexia;HP:0006482|Dental malformations;HP:0000589|Ocular coloboma;HP:0000483|Astigmatism;HP:0002757|Multiple fractures;HP:0000938|Osteopenia;HP:0001999|Abnormal facial shape;HP:0003764|Nevus;HP:0001028|Strawberry mark;HP:0003416|Spinal canal stenosis;HP:0012443|Abnormality of brain morphology;HP:0000085|Horseshoe kidney;HP:0100512|Vitamin D deficiency;HP:0001596|Hair loss;HP:0000505|Visual impairment;HP:0000113|Polycystic kidney dysplasia;HP:0009077|Weakness of long finger extensor muscles;HP:0004912|Hypophosphatemic rickets;HP:0008064|Ichthyosis;HP:0002671|Basalioma
botulism	HP:0010547|Muscle flaccidity;HP:0002093|Respiratory insufficiency;HP:0011499|Mydriasis;HP:0000016|Urinary retention;HP:0012378|Fatigue;HP:0002015|Dysphagia;HP:0002014|Diarrhea;HP:0011675|Arrhythmia;HP:0100021|Cerebral palsy;HP:0002019|Constipation;HP:0002027|Abdominal pain;HP:0002017|Nausea and vomiting;HP:0006597|Diaphragmatic paralysis;HP:0006824|Cranial nerve paralysis;HP:0009113|Diaphragmatic weakness;HP:0000651|Diplopia;HP:0000217|Xerostomia;HP:0001260|Dysarthria
haim-munk syndrome	HP:0007545|Congenital palmoplantar keratosis;HP:0000166|Severe periodontal disease;HP:0001805|Thick nail;HP:0009771|Acro-osteolysis;HP:0001166|Long, slender fingers;HP:0005406|Recurrent pyogenic skin infections;HP:0001763|Pes planus;HP:0006224|Tapering pointed ends of distal finger phalanges
annular pancreas	HP:0100867|Duodenal stenosis;HP:0005250|High intestinal obstruction;HP:0001734|Annular pancreas;HP:0100867|Duodenal stenosis/atresia
pentalogy of cantrell	HP:0002089|Pulmonary hypoplasia;HP:0002089|Hypoplastic lungs;HP:0001629|Ventricular septal defect;HP:0001697|Abnormality of the pericardium;HP:0000766|Abnormality of the sternum;HP:0001631|Atrial septal defect;HP:0000047|Hypospadias;HP:0001171|Split hand;HP:0002564|Malformation of the heart and great vessels;HP:0001683|Ectopia cordis;HP:0000204|Cleft upper lip;HP:0000104|Renal agenesis;HP:0001636|Tetralogy of Fallot;HP:0002933|Ventral hernia;HP:0000776|Diaphragmatic hernia;HP:0000175|Palatoschisis;HP:0100335|Non-midline cleft lip;HP:0000476|Cystic hygroma;HP:0000175|Cleft palate;HP:0011467|Absent gallbladder;HP:0001643|Persistent ductus arteriosus;HP:0002650|Scoliosis;HP:0001539|Omphalocele;HP:0002992|Abnormality of the tibia;HP:0000202|Oral cleft;HP:0000110|Renal dysplasia;HP:0001883|Talipes;HP:0006501|Aplasia/Hypoplasia of the radius;HP:0001669|Transposition of the great arteries;HP:0000238|Nonsyndromal hydrocephalus;HP:0002084|Encephalocele;HP:0001748|Polysplenia;HP:0000238|Hydrocephalus;HP:0002323|Anencephaly;HP:0000776|Congenital diaphragmatic hernia
peeling skin syndrome	HP:0000975|Hyperhidrosis;HP:0000958|Dry skin;HP:0010719|Abnormality of hair texture;HP:0003355|Aminoaciduria;HP:0007565|Multiple cafe-au-lait spots;HP:0008066|Abnormal blistering of the skin;HP:0008064|Ichthyosis
ghosal hematodiaphyseal dysplasia	HP:0001744|Splenomegaly;HP:0003312|Abnormal form of the vertebral bodies;HP:0006487|Bowing of the long bones;HP:0010978|Abnormality of immune system physiology;HP:0002167|Neurological speech impairment;HP:0001903|Anemia;HP:0003103|Abnormal cortical bone morphology;HP:0005019|Diaphyseal thickening;HP:0002992|Abnormality of the tibia;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0004493|Craniofacial hyperostosis;HP:0002823|Abnormality of the femur;HP:0000944|Abnormality of the metaphyses
langer mesomelic dysplasia	HP:0008873|Disproportionate short-limb short stature;HP:0006487|Bowing of the long bones;HP:0006492|Aplasia/Hypoplasia of the fibula;HP:0003510|Severe short stature;HP:0001191|Abnormality of the carpal bones;HP:0005026|Mesomelic/rhizomelic limb shortening;HP:0005930|Abnormality of epiphysis morphology;HP:0009465|Ulnar deviation of finger;HP:0000218|High palate;HP:0002997|Abnormality of the ulna;HP:0003067|Madelung deformity;HP:0002983|Micromelia;HP:0100864|Short femoral neck
microcephalic osteodysplastic primordial dwarfism type ii	HP:0001263|Global developmental delay;HP:0001297|Stroke;HP:0002777|Tracheal stenosis;HP:0002079|Hypoplasia of the corpus callosum;HP:0000826|Precocious puberty;HP:0001601|Laryngomalacia;HP:0002119|Ventriculomegaly;HP:0002213|Fine hair;HP:0003498|Disproportionate short stature;HP:0005930|Abnormality of epiphysis morphology;HP:0100659|Abnormality of the cerebral vasculature;HP:0001631|Atrial septal defect;HP:0100545|Arterial stenosis;HP:0001156|Brachydactyly syndrome;HP:0002205|Recurrent respiratory infections;HP:0002866|Hypoplastic iliac wing;HP:0000369|Low-set ears;HP:0001053|Hypopigmented skin patches;HP:0005692|Joint hyperflexibility;HP:0001643|Patent ductus arteriosus;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0009906|Aplasia/Hypoplasia of the earlobes;HP:0001511|Intrauterine growth retardation;HP:0000407|Sensorineural hearing impairment;HP:0002617|Aneurysm;HP:0001903|Anemia;HP:0000494|Downslanted palpebral fissures;HP:0001250|Seizures;HP:0000293|Full cheeks;HP:0000252|Microcephaly;HP:0002650|Scoliosis;HP:0007018|Attention deficit hyperactivity disorder;HP:0000448|Prominent nose;HP:0000431|Wide nasal bridge;HP:0004209|Clinodactyly of the 5th finger;HP:0001249|Intellectual disability;HP:0000278|Retrognathia;HP:0002812|Coxa vara;HP:0000691|Microdontia;HP:0000958|Dry skin;HP:0002750|Delayed skeletal maturation;HP:0003275|Narrow pelvis bone;HP:0001956|Truncal obesity;HP:0045025|Narrow palpebral fissure;HP:0001620|High pitched voice;HP:0007565|Multiple cafe-au-lait spots;HP:0009804|Reduced number of teeth;HP:0000055|Abnormality of female external genitalia;HP:0001611|Nasal speech;HP:0000944|Abnormality of the metaphyses;HP:0002983|Micromelia;HP:0000430|Underdeveloped nasal alae
h syndrome	HP:0000520|Proptosis;HP:0002110|Bronchiectasis;HP:0004322|Short stature;HP:0000027|Azoospermia;HP:0012724|Upper eyelid edema;HP:0000365|Hearing impairment;HP:0008734|Decreased testicular size;HP:0001084|Corneal arcus;HP:0000953|Hyperpigmentation of the skin;HP:0001954|Episodic fever;HP:0002797|Osteolysis;HP:0000135|Hypogonadism;HP:0002716|Lymphadenopathy;HP:0001433|Hepatosplenomegaly;HP:0000534|Abnormality of the eyebrow;HP:0002257|Chronic rhinitis;HP:0011025|Abnormality of cardiovascular system physiology;HP:0003765|Psoriasis;HP:0000204|Cleft upper lip;HP:0100776|Recurrent pharyngitis;HP:0002155|Hypertriglyceridemia;HP:0009125|Lipodystrophy;HP:0002024|Malabsorption;HP:0001256|Intellectual disability, mild;HP:0000771|Gynecomastia;HP:0000105|Enlarged kidney;HP:0001822|Hallux valgus;HP:0000077|Abnormality of the kidney;HP:0000293|Full cheeks;HP:0002757|Recurrent fractures;HP:0030053|Stiff skin;HP:0100324|Scleroderma;HP:0000823|Delayed puberty;HP:0000998|Hypertrichosis;HP:0012385|Camptodactyly;HP:0000141|Amenorrhea;HP:0001596|Alopecia;HP:0001347|Hyperreflexia;HP:0002750|Delayed skeletal maturation;HP:0000819|Diabetes mellitus;HP:0007380|Facial telangiectasia;HP:0001763|Pes planus;HP:0100727|Histiocytosis;HP:0000212|Gingival overgrowth;HP:0002619|Varicose veins;HP:0000054|Micropenis;HP:0100790|Hernia;HP:0000238|Hydrocephalus;HP:0008064|Ichthyosis;HP:0001935|Microcytic anemia
mckusick-kaufman syndrome	HP:0001830|Postaxial foot polydactyly;HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0002023|Anal atresia;HP:0000807|Glandular hypospadias;HP:0030010|Hydrometrocolpos;HP:0004322|Short stature;HP:0001629|Ventricular septal defect;HP:0002251|Aganglionic megacolon;HP:0000218|High palate;HP:0001631|Atrial septal defect;HP:0001156|Brachydactyly syndrome;HP:0008678|Renal hypoplasia/aplasia;HP:0006101|Finger syndactyly;HP:0008368|Tarsal synostosis;HP:0000126|Hydronephrosis;HP:0001162|Postaxial hand polydactyly;HP:0001636|Tetralogy of Fallot;HP:0001643|Patent ductus arteriosus;HP:0000175|Cleft palate;HP:0000003|Multicystic kidney dysplasia;HP:0001163|Abnormality of the metacarpal bones;HP:0001508|Failure to thrive;HP:0004383|Hypoplastic left heart;HP:0001249|Intellectual disability;HP:0012227|Urethral stricture;HP:0100779|Urogenital sinus anomaly;HP:0004397|Ectopic anus
complement factor h deficiency	HP:0005389|Depletion of components of the alternative complement pathway;HP:0002718|Recurrent pyogenic infections;HP:0004746|Dense deposit disease;HP:0000790|Hematuria;HP:0012622|Chronic kidney disease;HP:0004722|Thickening of the glomerular basement membrane;HP:0005369|Decreased serum complement factor H
fetal valproate syndrome	HP:0000160|Narrow mouth;HP:0000286|Epicanthus;HP:0000457|Depressed nasal ridge;HP:0003196|Short nose;HP:0000343|Long philtrum;HP:0001539|Omphalocele;HP:0000233|Thin vermilion border;HP:0002714|Downturned corners of mouth
lethal osteosclerotic bone dysplasia	HP:0000278|Retrognathia;HP:0000470|Short neck;HP:0000347|Micrognathia;HP:0000457|Depressed nasal ridge;HP:0000239|Large fontanelles;HP:0000369|Low-set ears;HP:0008501|Median cleft lip and palate;HP:0000463|Anteverted nares;HP:0000252|Microcephaly;HP:0000358|Posteriorly rotated ears;HP:0000270|Delayed cranial suture closure
infantile neuronal ceroid lipofuscinosis	HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0001257|Spasticity;HP:0002059|Cerebral atrophy;HP:0002333|Motor deterioration;HP:0001251|Ataxia;HP:0000618|Blindness;HP:0001336|Myoclonus;HP:0001268|Mental deterioration;HP:0000252|Microcephaly;HP:0000733|Stereotypy;HP:0000737|Irritability;HP:0000649|Abnormality of visual evoked potentials;HP:0007754|Macular dystrophy;HP:0000648|Optic atrophy;HP:0001290|Generalized hypotonia;HP:0000572|Visual loss;HP:0000512|Abnormal electroretinogram
essential fructosuria	HP:0011033|Impairment of fructose metabolism
thiamine-responsive megaloblastic anemia syndrome	HP:0001635|Congestive heart failure;HP:0000556|Retinal dystrophy;HP:0001297|Stroke;HP:0003401|Paresthesia;HP:0001873|Thrombocytopenia;HP:0001254|Lethargy;HP:0000572|Visual loss;HP:0001629|Ventricular septal defect;HP:0000819|Diabetes mellitus;HP:0001695|Cardiac arrest;HP:0001889|Megaloblastic anemia;HP:0002014|Diarrhea;HP:0004322|Short stature;HP:0002315|Headache;HP:0006671|Paroxysmal atrial tachycardia;HP:0000648|Optic atrophy;HP:0002039|Anorexia;HP:0000407|Sensorineural hearing impairment;HP:0000980|Pallor;HP:0001631|Atrial septal defect
juvenile paget disease	HP:0007703|Abnormality of retinal pigmentation;HP:0000889|Abnormality of the clavicle;HP:0006487|Bowing of the long bones;HP:0000256|Macrocephaly;HP:0002149|Hyperuricemia;HP:0004322|Short stature;HP:0002757|Recurrent fractures;HP:0004437|Cranial hyperostosis;HP:0000365|Hearing impairment;HP:0000822|Hypertension;HP:0000939|Osteoporosis;HP:0000164|Abnormality of the teeth;HP:0001482|Subcutaneous nodule;HP:0000648|Optic atrophy;HP:0000768|Pectus carinatum;HP:0100670|Rough bone trabeculation;HP:0000995|Melanocytic nevus
cole-carpenter syndrome	HP:0001263|Global developmental delay;HP:0011800|Midface retrusion;HP:0000262|Turricephaly;HP:0000520|Proptosis;HP:0006487|Bowing of the long bones;HP:0000682|Abnormality of dental enamel;HP:0004322|Short stature;HP:0000592|Blue sclerae;HP:0002645|Wormian bones;HP:0000347|Micrognathia;HP:0002652|Skeletal dysplasia;HP:0002007|Frontal bossing;HP:0005692|Joint hyperflexibility;HP:0000684|Delayed eruption of teeth;HP:0001511|Intrauterine growth retardation;HP:0000772|Abnormality of the ribs;HP:0001334|Communicating hydrocephalus;HP:0000494|Downslanted palpebral fissures;HP:0003312|Abnormal form of the vertebral bodies;HP:0006367|Crumpled long bones;HP:0001608|Abnormality of the voice;HP:0002650|Scoliosis;HP:0002757|Recurrent fractures;HP:0002808|Kyphosis;HP:0001252|Muscular hypotonia;HP:0000944|Abnormality of the metaphyses
neurodegeneration with brain iron accumulation	HP:0012675|Iron accumulation in brain;HP:0001257|Spasticity;HP:0002071|Abnormality of extrapyramidal motor function;HP:0000488|Retinopathy;HP:0001272|Cerebellar atrophy;HP:0002063|Rigidity;HP:0001332|Dystonia;HP:0000648|Optic atrophy;HP:0002072|Chorea;HP:0001260|Dysarthria
malonic aciduria	HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0001942|Metabolic acidosis;HP:0004322|Stature below 3rd percentile;HP:0001263|Developmental retardation;HP:0003128|Lactic acidosis;HP:0002014|Diarrhea;HP:0001302|Cerebral pachygyria;HP:0001946|High levels of ketone bodies;HP:0001943|Hypoglycemia;HP:0002027|Abdominal pain;HP:0001639|Hypertrophic cardiomyopathy;HP:0012450|Chronic constipation;HP:0002013|Emesis
keratoderma hereditarium mutilans	HP:0000044|Hypogonadotrophic hypogonadism;HP:0001597|Abnormality of the nail;HP:0000962|Hyperkeratosis;HP:0000175|Cleft palate;HP:0100716|Self-injurious behavior;HP:0007465|Honeycomb palmoplantar keratoderma;HP:0001596|Alopecia;HP:0002143|Abnormality of the spinal cord;HP:0100543|Cognitive impairment;HP:0000365|Hearing impairment;HP:0200034|Papule;HP:0009775|Amniotic constriction ring;HP:0000407|Sensorineural hearing impairment;HP:0007460|Autoamputation of digits;HP:0002797|Osteolysis;HP:0008064|Ichthyosis;HP:0008388|Abnormality of the toenails
rheumatoid nodulosis	HP:0001482|Subcutaneous nodule
manitoba oculotrichoanal syndrome	HP:0001545|Anteriorly placed anus;HP:0000579|Nasolacrimal duct obstruction;HP:0000625|Eyelid coloboma;HP:0000528|Absence of eyeballs;HP:0001595|Hair abnormality;HP:0001539|Omphalocele;HP:0000568|Abnormally small globe of eye;HP:0000316|Increased distance between eye sockets;HP:0002025|Narrowing of anal opening
occipital horn syndrome	HP:0001263|Global developmental delay;HP:0100699|Scarring;HP:0002748|Rickets;HP:0100874|Thick hair;HP:0000239|Large fontanelles;HP:0002015|Dysphagia;HP:0000978|Bruising susceptibility;HP:0000929|Abnormality of the skull;HP:0000767|Pectus excavatum;HP:0000974|Hyperextensible skin;HP:0000010|Recurrent urinary tract infections;HP:0002797|Osteolysis;HP:0001156|Brachydactyly syndrome;HP:0000987|Atypical scarring of skin;HP:0005743|Avascular necrosis of the capital femoral epiphysis;HP:0005692|Joint hyperflexibility;HP:0000343|Long philtrum;HP:0003019|Abnormality of the wrist;HP:0000015|Bladder diverticulum;HP:0002578|Gastroparesis;HP:0004279|Short palm;HP:0000952|Jaundice;HP:0000774|Narrow chest;HP:0002617|Aneurysm;HP:0004408|Abnormality of the sense of smell;HP:0002208|Coarse hair;HP:0000271|Abnormality of the face;HP:0000494|Downslanted palpebral fissures;HP:0002020|Gastroesophageal reflux;HP:0010562|Keloids;HP:0001396|Cholestasis;HP:0006660|Aplastic clavicles;HP:0002650|Scoliosis;HP:0002991|Abnormality of the fibula;HP:0000938|Osteopenia;HP:0005293|Venous insufficiency;HP:0000939|Osteoporosis;HP:0002514|Cerebral calcification;HP:0002808|Kyphosis;HP:0100633|Esophagitis;HP:0000926|Platyspondyly;HP:0002857|Genu valgum;HP:0025270|Abnormality of esophagus physiology;HP:0200021|Down-sloping shoulders;HP:0000023|Inguinal hernia;HP:0001249|Intellectual disability;HP:0002705|High, narrow palate;HP:0002045|Hypothermia;HP:0001385|Hip dysplasia;HP:0002812|Coxa vara;HP:0009556|Absent tibia;HP:0000348|High forehead;HP:0006507|Aplasia/hypoplasia of the humerus;HP:0100777|Exostoses;HP:0008818|Large iliac wings;HP:0002827|Hip dislocation;HP:0100541|Femoral hernia;HP:0001328|Specific learning disability;HP:0001763|Pes planus;HP:0012115|Hepatitis;HP:0003172|Abnormality of the pubic bone;HP:0001252|Muscular hypotonia;HP:0002033|Poor suck;HP:0002036|Hiatus hernia;HP:0000768|Pectus carinatum;HP:0100240|Synostosis of joints;HP:0003874|Humerus varus;HP:0002749|Osteomalacia;HP:0002673|Coxa valga;HP:0000270|Delayed cranial suture closure
acral peeling skin syndrome	HP:0008066|Skin bullae;HP:0010783|Erythema;HP:0040189|Desquamation;HP:0012733|Macule;HP:0040189|Scaling skin;HP:0008499|High-grade hypermetropia;HP:0012393|Allergy;HP:0200034|Papule;HP:0007605|Excessive wrinkling of palmar skin;HP:0200041|Skin erosion;HP:0000964|Eczema;HP:0000953|Hyperpigmentation of the skin;HP:0008066|Abnormal blistering of the skin;HP:0008064|Ichthyosis
tricho-dento-osseous syndrome	HP:0000264|Abnormality of the mastoid;HP:0011001|Increased bone mineral density;HP:0000691|Decreased width of tooth;HP:0001595|Hair abnormality;HP:0001808|Brittle nails;HP:0000687|Widely spaced teeth;HP:0002007|Frontal protruberance;HP:0000268|Dolichocephaly;HP:0000679|Taurodont
cloves syndrome	HP:0004099|Finger overgrowth;HP:0000324|Asymmetry of face;HP:0001744|Splenomegaly;HP:0001528|Hemihypertrophy;HP:0002144|Occult spinal dysraphism;HP:0010301|Spinal dysraphism;HP:0008678|Renal aplasia/hypoplasia;HP:0012032|Lipoma;HP:0002650|Scoliosis;HP:0001852|Wide space between first and second toes;HP:0030680|Abnormality of cardiovascular system morphology;HP:0004437|Hyperostosis of cranial bones;HP:0100559|Lower limb asymmetry;HP:0001548|Overgrowth;HP:0012721|Venous malformations
infantile-onset ascending hereditary spastic paralysis	HP:0001257|Spasticity;HP:0001258|Spastic paraplegia;HP:0000496|Abnormality of eye movement;HP:0001347|Hyperreflexia;HP:0002193|Pseudobulbar behavioral symptoms;HP:0002445|Tetraplegia;HP:0007256|Abnormal pyramidal signs;HP:0002425|Anarthria;HP:0005216|Chewing difficulties;HP:0001260|Dysarthria;HP:0002510|Spastic tetraplegia
interdigitating dendritic cell sarcoma	HP:0100242|Sarcoma
dicarboxylic aminoaciduria	HP:0003355|Aminoaciduria;HP:0003162|Low blood sugar when fasting;HP:0001249|Mental retardation
platelet storage pool deficiency	HP:0003010|Increased bleeding time;HP:0002488|Acute leukemias;HP:0005537|Small platelet size;HP:0002863|Myelodysplastic syndrome
watson syndrome	HP:0004322|Stature below 3rd percentile;HP:0009737|Lisch nodules;HP:0001067|Neurofibromas;HP:0004482|Macrocephaly, relative;HP:0000997|Axillary freckling;HP:0001626|Cardiovascular abnormality;HP:0007565|Multiple cafe-au-lait spots
myoclonus-dystonia syndrome	HP:0001252|Hypotonia;HP:0002356|Writer's cramp;HP:0000473|Spasmodic torticollis;HP:0000722|Obsessive compulsive disorder;HP:0000756|Fear of open spaces;HP:0001337|Tremor;HP:0000716|Depression;HP:0001336|Myoclonic jerks;HP:0000739|Anxiety
marcus gunn phenomenon	HP:0007687|Unilateral ptosis;HP:0007970|Congenital ptosis
chst3-related skeletal dysplasia	HP:0002945|Narrow intervertebral spaces;HP:0003184|Decreased hip abduction;HP:0003042|Radiocapitellar dislocation;HP:0001650|Valvular aortic stenosis;HP:0010049|Metacarpal hypoplasia;HP:0001659|Aortic insufficiency;HP:0008905|Rhizomelic short limbs;HP:0003071|Flattened epiphysis;HP:0000691|Decreased width of tooth;HP:0002553|Highly arched eyebrow;HP:0003417|Coronal vertebral clefts;HP:0003521|Disproportionate short-trunk short stature;HP:0030680|Abnormality of cardiovascular system morphology;HP:0000365|Hearing impairment;HP:0002194|Delayed motor skills;HP:0000316|Increased distance between eye sockets;HP:0009882|Hypoplastic terminal phalanges;HP:0001718|Mitral stenosis;HP:0000343|Vertical hyperplasia of philtrum;HP:0001629|Ventricular septal defects;HP:0006462|Generalized bone demineralization;HP:0000470|Decreased cervical height;HP:0000337|Broad forehead;HP:0001156|Brachydactyly syndrome;HP:0002829|Arthralgia;HP:0001371|Flexion contracture;HP:0007598|Bilateral single transverse palmar creases;HP:0001552|Barrel-shaped chest;HP:0001270|Motor delay;HP:0008450|Narrow vertebral interpedicular distance;HP:0002938|Exaggerated lumbar lordosis;HP:0002092|Pulmonary artery hypertension;HP:0001762|Talipes equinovarus;HP:0005180|Tricuspid insufficiency;HP:0010585|Small end part of bone;HP:0010446|Tricuspid stenosis;HP:0003093|Restricted hip extension;HP:0000684|Delayed eruption of teeth;HP:0000535|Thin, sparse eyebrows;HP:0000316|Hypertelorism;HP:0010585|Small epiphyses;HP:0045075|Sparse eyebrow;HP:0000343|Long philtrum;HP:0003022|Short ulna;HP:0001642|Pulmonic stenosis;HP:0003037|Enlarged joints;HP:0010049|Short metacarpal;HP:0000914|Shield chest;HP:0003312|Abnormal form of the vertebral bodies;HP:0002982|Bowed tibia;HP:0002751|Kyphoscoliosis;HP:0001653|Mitral valve insufficiency;HP:0000218|Increased palatal height;HP:0002650|Scoliosis;HP:0002945|Intervertebral space narrowing;HP:0002750|Delayed bone maturation;HP:0009179|Displaced pinkie finger;HP:0000337|Increased bitemporal dimension;HP:0002857|Genu valgum;HP:0003040|Arthropathy;HP:0001714|Ventricular hypertrophy;HP:0003301|vertebral endplate irregularity;HP:0009811|Abnormality of the elbow;HP:0003031|Ulnar bowing;HP:0006610|Wide intermamillary distance;HP:0002515|Waddling gait;HP:0002655|Spondyloepiphyseal dysplasia;HP:0009803|Hypoplastic/small phalanges of the hand;HP:0100864|Short femoral necks;HP:0003834|Shoulder dislocation;HP:0008905|Rhizomelia;HP:0002967|Cubitus valgus;HP:0001552|Barrel chest;HP:0003090|Hypoplasia of the capital femoral epiphysis;HP:0100490|Camptodactyly of finger;HP:0000687|Widely spaced teeth;HP:0001763|Pes planus;HP:0006067|Multiple carpal ossification centers;HP:0010582|Irregular epiphyses;HP:0004976|Dislocations of the knees;HP:0008551|Hypoplasia of the external ear;HP:0001156|Brachydactyly;HP:0002829|Arthralgias;HP:0006471|Fixed elbow flexion
atransferrinemia	HP:0001635|Congestive heart failure;HP:0001931|Hypochromic anaemia;HP:0012239|Atransferrinemia;HP:0001392|Abnormality of the liver
ataxia with isolated vitamin e deficiency	HP:0002155|Increased triglycerides;HP:0003141|Hyperbetalipoproteinemia;HP:0001251|Ataxia;HP:0100513|Vitamin E deficiency;HP:0001284|Areflexia;HP:0010874|Tendon xanthomatosis;HP:0003124|Elevated serum cholesterol;HP:0001114|Fatty deposits on eyelids
dejerine sottas disease	HP:0000639|Nystagmus;HP:0002936|Decreased distal sensation;HP:0003382|Hypertrophic nerve changes;HP:0010871|Ataxia, sensory;HP:0001765|Hammertoes;HP:0002460|Weakness of distal muscles;HP:0009027|Foot drop;HP:0001270|Motor retardation;HP:0003383|'Onion bulb' formations;HP:0001252|Hypotonia;HP:0002751|Kyphoscoliosis;HP:0003376|'steppage' gait;HP:0003431|Decreased motor nerve conduction velocities;HP:0001171|Hand ectrodactyly;HP:0001178|Ulnar claw;HP:0001265|Decreased tendon reflexes;HP:0003693|Muscle atrophy, distal;HP:0001284|Areflexia;HP:0001761|Pes cavus;HP:0003481|Segmental peripheral demyelination/remyelination;HP:0002922|Increased CSF protein;HP:0003380|Decreased number of peripheral myelinated nerve fibers
sarcoma, synovial	HP:0012570|Synovial sarcoma
epilepsy, progressive myoclonic 1a	HP:0001251|Ataxia;HP:0002121|Petit mal seizures;HP:0001268|Mental deterioration;HP:0001260|Dysarthric speech;HP:0002069|Generalized tonic clonic seizures;HP:0001336|Myoclonic jerks
peters plus syndrome	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0008873|Disproportionate short-limb short stature;HP:0008569|Microtia, second degree;HP:0002023|Anal atresia;HP:0000518|Cataract;HP:0003196|Short nose;HP:0002119|Ventriculomegaly;HP:0001770|Toe syndactyly;HP:0000248|Brachycephaly;HP:0012745|Short palpebral fissure;HP:0005280|Depressed nasal bridge;HP:0007833|Anterior chamber synechiae;HP:0004414|Abnormality of the pulmonary artery;HP:0001156|Brachydactyly syndrome;HP:0000047|Hypospadias;HP:0008678|Renal hypoplasia/aplasia;HP:0000582|Upslanted palpebral fissure;HP:0000347|Micrognathia;HP:0000154|Wide mouth;HP:0002007|Frontal bossing;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0001537|Umbilical hernia;HP:0000126|Hydronephrosis;HP:0003298|Spina bifida occulta;HP:0000465|Webbed neck;HP:0000316|Hypertelorism;HP:0000204|Cleft upper lip;HP:0000343|Long philtrum;HP:0000960|Sacral dimple;HP:0001561|Polyhydramnios;HP:0002120|Cerebral cortical atrophy;HP:0001511|Intrauterine growth retardation;HP:0001642|Pulmonic stenosis;HP:0000384|Preauricular skin tag;HP:0002000|Short columella;HP:0000612|Iris coloboma;HP:0000659|Peters anomaly;HP:0000013|Hypoplasia of the uterus;HP:0001773|Short foot;HP:0001831|Short toe;HP:0008872|Feeding difficulties in infancy;HP:0000175|Cleft palate;HP:0000003|Multicystic kidney dysplasia;HP:0007957|Corneal opacity;HP:0002263|Exaggerated cupid's bow;HP:0000252|Microcephaly;HP:0000648|Optic atrophy;HP:0004209|Clinodactyly of the 5th finger;HP:0000311|Round face;HP:0000023|Inguinal hernia;HP:0000830|Anterior hypopituitarism;HP:0000405|Conductive hearing impairment;HP:0000060|Clitoral hypoplasia;HP:0001249|Intellectual disability;HP:0006610|Wide intermamillary distance;HP:0001558|Decreased fetal movement;HP:0100819|Intestinal fistula;HP:0000505|Visual impairment;HP:0000219|Thin upper lip vermilion;HP:0000463|Anteverted nares;HP:0000073|Ureteral duplication;HP:0000368|Low-set, posteriorly rotated ears;HP:0011220|Prominent forehead;HP:0000501|Glaucoma;HP:0001671|Abnormality of the cardiac septa;HP:0002983|Micromelia;HP:0000482|Microcornea
ehlers-danlos syndrome, kyphoscoliotic type	HP:0006532|Pneumonia, recurrent episodes;HP:0002239|Gastrointestinal hemorrhage;HP:0007517|Wrinkled palms and soles;HP:0000541|Retinal detachment;HP:0000545|Myopia;HP:0005294|Arterial dissection;HP:0001166|Long, slender fingers;HP:0000592|Bluish sclerae;HP:0001519|Dolichostenomelia;HP:0000678|Dental crowding;HP:0000974|Hyperextensible skin;HP:0000015|Bladder diverticula;HP:0000563|Keratoconus;HP:0001635|Congestive heart failure;HP:0000963|Thin skin;HP:0000541|Detached retina;HP:0000286|Palpebronasal fold;HP:0001373|Joint dislocations;HP:0000987|Atypical scarring of skin;HP:0000618|Blindness;HP:0001939|Laboratory abnormality;HP:0002808|Gibbus deformity;HP:0001762|Talipes equinovarus;HP:0005692|Joint hyperflexibility;HP:0000563|Conical cornea;HP:0001270|Motor retardation;HP:0000993|Molluscoid pseudotumor;HP:0000978|Bruisability;HP:0002647|Aortic dissection;HP:0001252|Hypotonia;HP:0001288|Gait disturbance;HP:0000545|Near sightedness;HP:0001388|Joint laxity;HP:0005280|Flat, nasal bridge;HP:0002650|Scoliosis;HP:0001131|Corneal dystrophy;HP:0000939|Osteoporosis;HP:0003272|Abnormality of the hip bone;HP:0002808|Kyphosis;HP:0001788|Premature rupture of membranes;HP:0000023|Inguinal hernia;HP:0005952|Decreased lung function;HP:0001933|Subcutaneous hemorrhage;HP:0001939|Abnormality of metabolism/homeostasis;HP:0001892|Abnormal bleeding;HP:0001319|Neonatal hypotonia;HP:0002761|Generalized joint laxity;HP:0010727|Spontaneous rupture of the globe;HP:0001558|Decreased fetal movement;HP:0001634|Mitral valve prolapse;HP:0008458|Progressive congenital scoliosis;HP:0000505|Visual impairment;HP:0000488|Retinopathy;HP:0000977|Soft skin;HP:0000098|Increased body height;HP:0001763|Pes planus;HP:0000974|Stretchable skin;HP:0000501|Glaucoma;HP:0002093|progressive respiratory failure;HP:0000482|Microcornea
ehlers-danlos syndrome, type iv	HP:0002108|Spontaneous pneumothorax;HP:0000233|Decreased volume of lip vermillion;HP:0004322|Stature below 3rd percentile;HP:0006480|Premature loss of teeth;HP:0009771|Acro-osteolysis;HP:0001762|Talipes equinovarus;HP:0005267|Premature delivery because of cervical insufficiency or membrane fragility;HP:0000563|Conical cornea;HP:0002293|Scalp hair loss;HP:0002105|Hemoptysis;HP:0000139|Sagging uterus;HP:0000993|Molluscoid pseudotumor;HP:0000978|Bruisability;HP:0001842|Foot acroosteolysis;HP:0001073|'cigarette paper scarring';HP:0000023|Inguinal hernia;HP:0000704|Pyorrhea;HP:0001634|Mitral valve prolapse;HP:0000079|Urinary tract anomalies;HP:0000387|Absent earlobe;HP:0001030|Fragile skin;HP:0006201|Hypermobility of distal interphalangeal joints;HP:0004944|Cerebral artery aneurysm
hydrops fetalis, idiopathic	HP:0001635|Congestive heart failure;HP:0001903|Anemia;HP:0001789|Hydrops fetalis
myelopathy, htlv-1-associated	HP:0002196|Myelopathy;HP:0002313|Spastic paraparesis;HP:0007256|Abnormal pyramidal signs
waardenburg syndrome type 2	HP:0002216|Premature graying of hair;HP:0002211|White forelock;HP:0000506|Telecanthus;HP:0004414|Abnormality of the pulmonary artery;HP:0000077|Abnormality of the kidney;HP:0001053|Hypopigmented skin patches;HP:0005599|Hypopigmentation of hair;HP:0001100|Heterochromia iridis;HP:0000365|Hearing impairment;HP:0002251|Aganglionic megacolon;HP:0000407|Sensorineural hearing impairment;HP:0000508|Ptosis
self-healing collodion baby	HP:0001376|Limitation of joint mobility;HP:0008064|Ichthyosis
ivic syndrome	HP:0000544|CPEO;HP:0000486|Squint eyes;HP:0002023|Anal atresia;HP:0000365|Hearing impairment;HP:0000143|Rectovaginal fistula;HP:0030241|Deltoid muscle hypoplasia;HP:0006064|Limited interphalangeal movement;HP:0006248|Limited wrist movement;HP:0002996|Decreased elbow mobility;HP:0009702|Fused carpal bones;HP:0002650|Scoliosis;HP:0001245|Hypoplastic thenar eminences;HP:0002974|Fused forearm bones;HP:0001873|Low platelet count;HP:0001498|Hypoplastic carpal bones;HP:0001974|Leukocytosis;HP:0010034|Short 1st metacarpal;HP:0009777|Absent thumbs;HP:0001199|Triphalangeal thumb;HP:0008953|Pectoralis major hypoplasia;HP:0002566|Intestinal malrotation;HP:0002984|Hypoplastic radius
pulmonary blastoma	HP:0002094|Dyspnea;HP:0100749|Chest pain;HP:0002113|Pulmonary infiltrates;HP:0100528|Pleuropulmonary blastoma;HP:0001824|Weight loss;HP:0001945|Fever;HP:0006532|Recurrent pneumonia;HP:0002105|Hemoptysis;HP:0012735|Cough
bothnia retinal dystrophy	HP:0000662|Poor night vision;HP:0000556|Retinal dystrophy;HP:0000608|Macular degeneration;HP:0000512|ERG abnormal
corneal dystrophy and perceptive deafness	HP:0001131|Corneal dystrophy;HP:0000407|sensorineural hearing loss;HP:0007759|Cloudy cornea
fragile x-associated tremor/ataxia syndrome	HP:0001310|Dysmetria;HP:0002015|Dysphagia;HP:0002839|Urinary bladder sphincter dysfunction;HP:0000722|Obsessive-compulsive behavior;HP:0002354|Memory impairment;HP:0001300|Parkinsonism;HP:0100515|Pollakisuria;HP:0001260|Dysarthria;HP:0012534|Dysesthesia;HP:0003326|Myalgia;HP:0001251|Ataxia;HP:0009830|Peripheral neuropathy;HP:0002615|Hypotension;HP:0000822|Hypertension;HP:0002066|Gait ataxia;HP:0001265|Hyporeflexia;HP:0002120|Cerebral cortical atrophy;HP:0000739|Anxiety;HP:0002067|Bradykinesia;HP:0001288|Gait disturbance;HP:0002080|Intention tremor;HP:0002607|Bowel incontinence;HP:0002063|Rigidity;HP:0000726|Dementia;HP:0002363|Abnormality of brainstem morphology;HP:0000802|Impotence;HP:0002459|Dysautonomia;HP:0001324|Muscle weakness;HP:0000716|Depression;HP:0030216|Inertia;HP:0100275|Diffuse cerebellar atrophy;HP:0000821|Hypothyroidism
scalp-ear-nipple syndrome	HP:0000518|Cataract;HP:0000625|Cleft eyelid;HP:0000010|Recurrent urinary tract infections;HP:0001965|Abnormality of the scalp;HP:0000506|Telecanthus;HP:0011251|Underdeveloped antitragus;HP:0006709|Aplasia/Hypoplasia of the nipples;HP:0000822|Hypertension;HP:0000164|Abnormality of the teeth;HP:0000684|Delayed eruption of teeth;HP:0100651|Type I diabetes mellitus;HP:0012330|Pyelonephritis;HP:0009738|Abnormality of the antihelix;HP:0000077|Abnormality of the kidney;HP:0000966|Hypohidrosis;HP:0000951|Abnormality of the skin;HP:0008070|Sparse hair;HP:0100783|Breast aplasia;HP:0005580|Duplication of renal pelvis;HP:0000385|Small earlobe;HP:0000073|Ureteral duplication;HP:0008551|Microtia;HP:0011272|Underdeveloped tragus;HP:0001231|Abnormality of the fingernails;HP:0100540|Palpebral edema
hereditary breast and ovarian cancer syndrome	HP:0011027|Abnormality of the fallopian tube;HP:0012125|Prostate cancer;HP:0002894|Neoplasm of the pancreas;HP:0030406|Primary peritoneal carcinoma;HP:0003002|Breast carcinoma;HP:0100615|Ovarian neoplasm;HP:0002861|Melanoma
hereditary leiomyomatosis and renal cell cancer	HP:0100751|Esophageal neoplasm;HP:0100650|Vaginal neoplasm;HP:0007437|Multiple cutaneous leiomyomas;HP:0000518|Cataract;HP:0003011|Abnormality of the musculature;HP:0006732|Papillary renal cell carcinoma type 2;HP:0100580|Barrett esophagus;HP:0000989|Pruritus;HP:0000131|Uterine leiomyoma;HP:0007620|Cutaneous leiomyoma;HP:0002891|Uterine leiomyosarcoma
non-functioning pituitary adenoma	HP:0000044|Hypogonadotrophic hypogonadism;HP:0002050|Macroorchidism, postpubertal;HP:0000863|Central diabetes insipidus;HP:0008202|Prolactin deficiency;HP:0002920|Decreased circulating ACTH level;HP:0002013|Vomiting;HP:0100639|Erectile abnormalities;HP:0011748|Adrenocorticotropic hormone deficiency;HP:0012378|Fatigue;HP:0000873|Diabetes insipidus;HP:0007942|Internal ophthalmoplegia;HP:0011804|Abnormality of muscle physiology;HP:0000824|Growth hormone deficiency;HP:0001117|Sudden loss of visual acuity;HP:0008993|Increased intraabdominal fat;HP:0000508|Ptosis;HP:0000135|Hypogonadism;HP:0000618|Blindness;HP:0040075|Hypopituitarism;HP:0030521|Bitemporal hemianopia;HP:0000837|Increased circulating gonadotropin level;HP:0000134|Female hypogonadism;HP:0002017|Nausea and vomiting;HP:0000871|Panhypopituitarism;HP:0002615|Hypotension;HP:0006897|Cranial nerve VI palsy;HP:0003335|Low gonadotropins (secondary hypogonadism);HP:0000140|Abnormality of the menstrual cycle;HP:0000858|Menstrual irregularities;HP:0007011|Fourth cranial nerve palsy;HP:0012246|Oculomotor nerve palsy;HP:0001250|Seizures;HP:0011357|Abnormality of hair density;HP:0000026|Male hypogonadism;HP:0011735|Adrenocorticotropin deficient adrenal insufficiency;HP:0003388|Easy fatigability;HP:0000868|Decreased fertility in females;HP:0000846|Adrenal insufficiency;HP:0010972|Anemia of inadequate production;HP:0030517|Heteronymous hemianopia;HP:0000651|Diplopia;HP:0000529|Progressive visual loss;HP:0000830|Anterior hypopituitarism;HP:0000802|Impotence;HP:0000053|Macroorchidism;HP:0012377|Hemianopsia;HP:0002321|Vertigo;HP:0030018|Decreased female libido;HP:0030088|Increased serum testosterone level;HP:0012503|Abnormality of the pituitary gland;HP:0006824|Cranial nerve paralysis;HP:0012041|Decreased fertility in males;HP:0000980|Pallor;HP:0002315|Headache;HP:0008240|Secondary growth hormone deficiency;HP:0008245|Pituitary hypothyroidism;HP:0011734|Central adrenal insufficiency
deafness-infertility syndrome	HP:0012207|Reduced sperm motility;HP:0008619|Bilateral sensorineural hearing impairment;HP:0000027|Azoospermia;HP:0008669|Abnormal spermatogenesis;HP:0003251|Male infertility;HP:0000407|Sensorineural hearing impairment
bifid nose	HP:0000316|Hypertelorism;HP:0011803|Bifid nose
testicular regression syndrome	HP:0000037|Male pseudohermaphroditism;HP:0008633|Absent gonadal tissue;HP:0010468|Aplasia/Hypoplasia of the testes;HP:0000022|Abnormality of male internal genitalia;HP:0008734|Decreased testicular size;HP:0008736|Hypoplasia of penis;HP:0000812|Abnormal internal genitalia;HP:0000062|Ambiguous genitalia;HP:0010469|Aplasia of the testes;HP:0012870|Vanishing testis;HP:0000144|Decreased fertility;HP:0000271|Abnormality of the face;HP:0000008|Abnormality of female internal genitalia
snowflake vitreoretinal degeneration	HP:0030663|Optically empty vitreous;HP:0000518|Cataract;HP:0000655|Vitreoretinal degeneration
adult polyglucosan body disease	HP:0002936|Decreased distal sensation;HP:0100543|Cognitive deficits;HP:0000020|Urinary incontinence;HP:0002839|Urinary bladder sphincter dysfunction;HP:0007256|Abnormal pyramidal signs;HP:0001269|Hemiparesis;HP:0001376|Limitation of joint mobility;HP:0003401|Paresthesia;HP:0001257|Spasticity;HP:0002500|Leukoaraiosis;HP:0001251|Ataxia;HP:0001939|Laboratory abnormality;HP:0002127|Abnormal shape of upper motor neuron;HP:0009830|Peripheral neuropathy;HP:0200042|Skin ulcer;HP:0000708|Behavioral abnormality;HP:0002071|Abnormality of extrapyramidal motor function;HP:0001288|Gait disturbance;HP:0003457|EMG abnormality;HP:0000726|Dementia;HP:0000011|Neurogenic bladder;HP:0001249|Intellectual disability;HP:0002936|Distal sensory impairment;HP:0001324|Muscle weakness;HP:0002273|Tetraparesis
kerion celsi	HP:0002716|Lymphadenopathy;HP:0003326|Myalgia;HP:0001596|Alopecia;HP:0001939|Laboratory abnormality;HP:0100838|Recurrent cutaneous abscess formation;HP:0000951|dermatopathy;HP:0011123|Inflammatory abnormality of the skin;HP:0001945|Fever;HP:0002076|Migraine;HP:0001581|Recurrent skin infections
criss-cross heart	HP:0000961|Cyanosis;HP:0001633|Abnormality of the mitral valve;HP:0002093|Respiratory insufficiency;HP:0002564|Malformation of the heart and great vessels;HP:0001629|Ventricular septal defect;HP:0001669|Transposition of the great arteries;HP:0010446|Tricuspid stenosis;HP:0000765|Abnormality of the thorax;HP:0001999|Abnormal facial shape;HP:0004381|Supravalvular aortic stenosis;HP:0001718|Mitral stenosis;HP:0001642|Pulmonic stenosis;HP:0011968|Feeding difficulties
radioulnar synostosis	HP:0003083|Dislocated radius;HP:0001377|Restricted elbow extension;HP:0002974|Fused forearm bones
central precocious puberty	HP:0002444|Hypothalamic hamartoma;HP:0000821|Underactive thyroid;HP:0003508|Proportionate short stature;HP:0001061|Acne;HP:0004322|Stature below 3rd percentile;HP:0000957|Cafe-au-lait spot;HP:0002805|Accelerated bone age after puberty;HP:0001513|Obesity;HP:0002686|Prenatal maternal abnormality;HP:0004324|Increased body weight;HP:0000837|Increased circulating gonadotropin level;HP:0008232|Elevated follicle-stimulating hormone;HP:0011969|Elevated luteinizing hormone;HP:0000238|Hydrocephalus;HP:0001287|Meningitis;HP:0001548|Overgrowth;HP:0008236|Isosexual precocious puberty;HP:0009888|Abnormality of secondary sexual hair;HP:0010314|Premature thelarche
ascites, chylous	HP:0000501|Glaucoma;HP:0012281|Chylous ascites
myotonia permanens	HP:0002094|Dyspnea;HP:0002015|Dysphagia;HP:0003552|Muscle stiffness;HP:0004322|Short stature;HP:0001376|Limitation of joint mobility;HP:0002099|Asthma;HP:0000602|Ophthalmoplegia;HP:0005949|Apneic episodes in infancy;HP:0003326|Muscle pain;HP:0003720|Generalized muscle hypertrophy;HP:0003326|Myalgia;HP:0003307|Hyperlordosis;HP:0003712|Skeletal muscle hypertrophy;HP:0003394|Muscle cramps;HP:0003712|Hypertrophic muscles;HP:0001276|Hypertonia;HP:0000286|Epicanthus;HP:0010307|Stridor;HP:0001288|Gait disturbance;HP:0003236|Elevated creatine kinase;HP:0001608|Abnormality of the voice;HP:0003457|EMG abnormality;HP:0002486|Myotonia;HP:0000597|Ophthalmoparesis;HP:0001249|Intellectual disability;HP:0001324|Muscle weakness;HP:0100749|Chest pain
bifid uvula	HP:0000193|Uvula bifida
cholestasis-lymphedema syndrome	HP:0006566|Neonatal cholestatic liver disease;HP:0002240|Enlarged liver;HP:0002239|Gastrointestinal hemorrhage;HP:0001012|Multiple lipomas;HP:0012378|Fatigue;HP:0002653|Bone pain;HP:0003155|Hyperphosphatasia;HP:0002027|Abdominal pain;HP:0001000|Abnormality of skin pigmentation;HP:0002910|Elevated transaminases;HP:0001004|Lymphedema;HP:0001055|Erysipelas;HP:0001409|Portal hypertension;HP:0002017|Nausea and vomiting;HP:0001394|Hepatic cirrhosis;HP:0002024|Intestinal malabsorption;HP:0000952|Jaundice;HP:0011985|Acholic stools;HP:0003110|Abnormality of urine homeostasis;HP:0003077|Hyperlipidemia;HP:0001080|Biliary tract abnormality;HP:0002908|Conjugated hyperbilirubinemia;HP:0100763|Abnormality of the lymphatic system;HP:0002240|Hepatomegaly;HP:0001004|Lymphatic obstruction;HP:0001744|Splenomegaly;HP:0000952|Yellow skin;HP:0001394|Cirrhosis;HP:0004349|Reduced bone mineral density
acrokeratoelastoidosis	HP:0000962|Hyperkeratosis;HP:0200016|Acral keratosis
aorta coarctation	HP:0012305|Coarctation of the descending aortic arch;HP:0001635|Congestive heart failure;HP:0001297|Stroke;HP:0010883|Aortic valve atresia;HP:0001680|Coarctation of aorta;HP:0004383|Underdeveloped left heart;HP:0011682|Perimembranous ventricular septal defect;HP:0001647|Bicuspid aortic valve;HP:0000822|Hypertension;HP:0001643|Patent ductus arteriosus;HP:0011103|Abnormality of the left ventricular outflow tract;HP:0001640|Cardiomegaly;HP:0012304|Hypoplastic aortic arch;HP:0001636|Tetralogy of Fallot;HP:0002092|Pulmonary arterial hypertension;HP:0005295|Pseudocoarctation of the aorta;HP:0011611|Interrupted aortic arch;HP:0004383|Hypoplastic left heart;HP:0001677|Coronary artery disease;HP:0005301|Persistent left superior vena cava
congenital vertical talus	HP:0001369|Arthritis;HP:0008138|Hindfoot equinus;HP:0001838|Rocker bottom foot;HP:0001848|Calcaneovalgus Foot
charcot-marie-tooth disease type 2b2	HP:0003431|Decreased motor nerve conduction velocities;HP:0003693|Muscle atrophy, distal;HP:0001265|Decreased tendon reflexes;HP:0002936|Decreased distal sensation;HP:0001284|Areflexia;HP:0002460|Weakness of distal muscles
diffuse mesangial sclerosis	HP:0000097|focal glomerulosclerosis;HP:0001967|Diffuse mesangial sclerosis;HP:0002667|Wilms tumor;HP:0000100|Nephrosis;HP:0000083|Renal insufficiency
bamforth syndrome	HP:0000175|Palatoschisis;HP:0008191|Thyroid agenesis;HP:0001561|Hydramnios;HP:0010564|Bifid epiglottis;HP:0000453|Blockage of the rear opening of the nasal cavity
ornithinemia	HP:0003701|Proximal limb muscle weakness;HP:0000618|Blindness;HP:0003457|Abnormal EMG;HP:0001939|Laboratory abnormality;HP:0000533|Chorioretinal atrophy;HP:0000545|Near sightedness;HP:0000662|Poor night vision;HP:0007787|Posterior subcapsular cataract
cataract 7	HP:0000572|Visual loss;HP:0000519|Cataracts, lenticular, bilateral
autosomal dominant hypocalcemia	HP:0002356|Writer's cramp;HP:0002027|Abdominal pain;HP:0002793|Abnormal pattern of respiration;HP:0001635|Congestive heart failure;HP:0003401|Paresthesia;HP:0003473|Fatigable weakness;HP:0012608|Hypermagnesiuria;HP:0002615|Hypotension;HP:0002516|Increased intracranial pressure;HP:0004372|Reduced consciousness/confusion;HP:0000739|Anxiety;HP:0000708|Behavioral abnormality;HP:0002150|Hypercalciuria;HP:0002905|Hyperphosphatemia;HP:0007400|Irregular hyperpigmentation;HP:0002901|Hypocalcemia;HP:0000121|Nephrocalcinosis;HP:0003457|EMG abnormality;HP:0011675|Arrhythmia;HP:0040148|Cortical myoclonus;HP:0000648|Optic atrophy;HP:0000712|Emotional lability;HP:0001597|Abnormality of the nail;HP:0001596|Alopecia;HP:0000958|Dry skin;HP:0002917|Hypomagnesemia;HP:0000716|Depression;HP:0000964|Eczema;HP:0004349|Reduced bone mineral density;HP:0001231|Abnormality of the fingernails
nanophthalmia	HP:0000568|Microphthalmia;HP:0000610|Abnormality of the choroid;HP:0008499|High-grade hypermetropia;HP:0000486|Strabismus;HP:0000501|Glaucoma;HP:0007703|Abnormality of retinal pigmentation
pituitary stalk interruption syndrome	HP:0000028|Cryptorchidism;HP:0001250|Seizures;HP:0000786|Primary amenorrhea;HP:0001263|Global developmental delay;HP:0000864|Abnormality of the hypothalamus-pituitary axis;HP:0011755|Ectopic posterior pituitary;HP:0004322|Short stature;HP:0000873|Diabetes insipidus;HP:0001943|Hypoglycemia;HP:0001522|Death in infancy;HP:0100842|Septo-optic dysplasia;HP:0001508|Failure to thrive;HP:0000823|Delayed puberty;HP:0008736|Hypoplasia of penis;HP:0000835|Adrenal hypoplasia;HP:0000821|Hypothyroidism;HP:0001249|Intellectual disability
progressive non-fluent aphasia	HP:0001297|Stroke;HP:0002186|Apraxia;HP:0002366|Abnormal lower motor neuron morphology;HP:0006977|Grammar-specific speech disorder;HP:0001268|Mental deterioration;HP:0002354|Memory impairment;HP:0000474|Thickened nuchal skin fold;HP:0001300|Parkinsonism;HP:0007112|Temporal cortical atrophy;HP:0100256|Senile plaques;HP:0030223|Perseveration;HP:0002185|Neurofibrillary tangles;HP:0000739|Anxiety;HP:0010523|Alexia;HP:0000711|Restlessness;HP:0002446|Astrocytosis;HP:0002145|Frontotemporal dementia;HP:0000708|Behavioral abnormality;HP:0002071|Abnormality of extrapyramidal motor function;HP:0011204|EEG with continuous slow activity;HP:0006892|Frontotemporal cerebral atrophy;HP:0030692|Brain neoplasm;HP:0002300|Mutism;HP:0012658|Abnormal brain FDG positron emission tomography;HP:0002427|Motor aphasia;HP:0000751|Personality changes;HP:0100315|Lewy bodies;HP:0010526|Dysgraphia;HP:0030391|Spoken Word Recognition Deficit;HP:0002357|Dysphasia;HP:0000716|Depression;HP:0002500|Abnormality of the cerebral white matter;HP:0002381|Aphasia
mednik syndrome	HP:0000962|Hyperkeratosis;HP:0001406|Intrahepatic cholestasis;HP:0002242|Abnormality of the intestine;HP:0009830|Peripheral neuropathy;HP:0010837|Decreased serum ceruloplasmin;HP:0011967|Hypocupremia;HP:0008064|Ichthyosis;HP:0001249|Intellectual disability
autosomal dominant optic atrophy and cataract	HP:0000639|Nystagmus;HP:0010923|Anterior subcapsular cataract;HP:0007076|Extrapyramidal muscular rigidity;HP:0000518|Cataract;HP:0007976|Cerulean cataract;HP:0003474|Sensory impairment;HP:0012531|Pain;HP:0002522|Areflexia of lower limbs;HP:0007663|Reduced visual acuity;HP:0003401|Paresthesia;HP:0001251|Ataxia;HP:0000618|Blindness;HP:0002403|Positive Romberg sign;HP:0000603|Central scotoma;HP:0001172|Abnormality of the thumb;HP:0003394|Muscle cramps;HP:0010522|Dyslexia;HP:0001315|Reduced tendon reflexes;HP:0007787|Posterior subcapsular cataract;HP:0002174|Postural tremor;HP:0001377|Limited elbow extension;HP:0009468|Deviation of the 2nd finger;HP:0010924|Posterior cortical cataract;HP:0006248|Limited wrist movement;HP:0000552|Tritanomaly;HP:0001284|Areflexia;HP:0007795|Anterior cortical cataract;HP:0000648|Optic atrophy;HP:0002322|Resting tremor;HP:0001761|Pes cavus;HP:0000505|Visual impairment;HP:0002317|Unsteady gait;HP:0001272|Cerebellar atrophy;HP:0003438|Absent Achilles reflex;HP:0000642|Red-green dyschromatopsia
familial multiple lipomatosis	HP:0006487|Bowing of the long bones;HP:0002079|Hypoplasia of the corpus callosum;HP:0002119|Ventriculomegaly;HP:0010603|Keratocystic odontogenic tumor;HP:0000750|Delayed speech and language development;HP:0001702|Abnormality of the tricuspid valve;HP:0100702|Arachnoid cyst;HP:0002885|Medulloblastoma;HP:0000855|Insulin resistance;HP:0009830|Peripheral neuropathy;HP:0009125|Lipodystrophy;HP:0001548|Overgrowth;HP:0012424|Chorioretinitis;HP:0001250|Seizures;HP:0005249|Functional intestinal obstruction;HP:0000589|Coloboma;HP:0000256|Macrocephaly;HP:0006337|Premature eruption of permanent teeth;HP:0003077|Hyperlipidemia;HP:0002514|Cerebral calcification;HP:0005616|Accelerated skeletal maturation;HP:0009126|Increased adipose tissue
congenital intrauterine infection-like syndrome	HP:0001250|Seizures;HP:0001257|Spasticity;HP:0001347|Hyperreflexia;HP:0000252|Microcephaly;HP:0100022|Abnormality of movement;HP:0002514|Cerebral calcification;HP:0002120|Cerebral cortical atrophy
anemia, blackfan diamond	HP:0000486|Squint eyes;HP:0002863|Myelodysplastic syndrome;HP:0000465|Pterygium colli;HP:0000347|Hypoplasia of mandible;HP:0000878|11 pairs of ribs;HP:0000316|Increased distance between eye sockets;HP:0004810|Congenital hypoplastic anemia;HP:0002697|Parietal foramina;HP:0001629|Ventricular septal defects;HP:0000470|Decreased cervical height;HP:0002669|Osteosarcoma;HP:0001635|Congestive heart failure;HP:0004322|Stature below 3rd percentile;HP:0008475|Hypoplastic sacral vertebrae;HP:0001680|Coarctation of aorta;HP:0000204|Cleft upper lip;HP:0001622|Premature delivery;HP:0030270|Elevated red cell adenosine deaminase activity;HP:0000175|Palatoschisis;HP:0001894|Thrombocytosis;HP:0001249|Mental retardation;HP:0003003|Colon cancer;HP:0009944|Notching of thumb phalanges;HP:0000252|Small head circumference;HP:0008437|Bifid thoracic vertebrae;HP:0008447|Hypoplastic coccygeal vertebrae;HP:0000218|Increased palatal height;HP:0000774|Low chest circumference;HP:0001508|Weight faltering;HP:0001875|Neutropenia;HP:0001873|Low platelet count;HP:0001511|Prenatal onset growth retardation;HP:0000946|Small iliac bones;HP:0009777|Absent thumbs;HP:0001199|Triphalangeal thumb;HP:0000494|Downward slanting palpebral fissures;HP:0000270|Late closing fontanelles;HP:0009778|Small thumbs;HP:0002984|Hypoplastic radius;HP:0000278|Receding lower jaw;HP:0000457|Flat dorsum of nose;HP:0000980|Pallor;HP:0001896|Reticulocytopenia;HP:0001631|Atria septal defect
colorblindness, tritan	HP:0008275|Abnormal cone-mediated electroretinogram;HP:0000552|Dyschromatopsia, blue-yellow
metaphyseal chondrodysplasia, schmid type	HP:0003072|Hypercalcemia;HP:0002812|Coxa vara;HP:0001363|Craniosynostosis;HP:0000347|Micrognathia;HP:0002970|Genu varum;HP:0002007|Frontal bossing;HP:0006487|Bowing of the long bones;HP:0009826|Limb undergrowth;HP:0000365|Hearing impairment;HP:0008833|Irregular acetabular roof;HP:0005019|Diaphyseal thickening;HP:0005930|Abnormality of epiphysis morphology;HP:0000926|Platyspondyly;HP:0004348|Abnormality of bone mineral density;HP:0000944|Abnormality of the metaphyses;HP:0008848|Moderately short stature;HP:0003301|Irregular vertebral endplates;HP:0001156|Brachydactyly syndrome
narp syndrome	HP:0000639|Nystagmus;HP:0003701|Proximal limb muscle weakness;HP:0001250|Seizures;HP:0003198|Myopathic changes;HP:0001251|Ataxia;HP:0001263|Developmental retardation;HP:0000618|Blindness;HP:0000763|Sensory neuropathy;HP:0000510|Retinitis pigmentosa;HP:0007814|Focal hypopigmentation of the retinal pigment epithelium;HP:0007117|Corticospinal tract atrophy;HP:0000726|Dementia;HP:0003737|Mitochondrial myopathy
metaphyseal chondrodysplasia, spahr type	HP:0000670|Carious teeth;HP:0006487|Bowing of the long bones;HP:0003498|Disproportionate short stature;HP:0005930|Abnormality of epiphysis morphology;HP:0100255|Metaphyseal dysplasia;HP:0002970|Genu varum;HP:0003307|Hyperlordosis;HP:0000164|Abnormality of the teeth;HP:0005871|Metaphyseal chondrodysplasia;HP:0001270|Motor retardation;HP:0003016|Wide metaphyses;HP:0001288|Gait disturbance;HP:0006385|Short legs;HP:0000234|Head abnormality;HP:0002650|Scoliosis;HP:0002857|Genu valgum;HP:0006385|Short lower limbs;HP:0006409|Progressive leg bowing;HP:0004979|Metaphyseal sclerosis;HP:0002515|Waddling gait;HP:0001385|Hip dysplasia;HP:0002750|Delayed skeletal maturation;HP:0004349|Reduced bone mineral density;HP:0000944|Abnormality of the metaphyses
46,xx gonadal dysgenesis	HP:0000786|Primary amenorrhea;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0001166|Arachnodactyly;HP:0008684|Aplasia/hypoplasia of the uterus;HP:0002225|Sparse pubic hair;HP:0000837|Elevated gonadotropins;HP:0000869|Secondary amenorrhea;HP:0001251|Ataxia;HP:0010464|Streak ovary;HP:0002206|Pulmonary fibrosis;HP:0000837|Increased circulating gonadotropin level;HP:0000062|Ambiguous genitalia;HP:0008209|Premature ovarian failure;HP:0000252|Microcephaly;HP:0000938|Osteopenia;HP:0100805|Precocious menopause;HP:0000939|Osteoporosis;HP:0005625|Osteoporosis of vertebrae;HP:0000823|Delayed puberty;HP:0000133|Mixed gonadal dysgenesis;HP:0010311|Aplasia/Hypoplasia of the breasts;HP:0000133|Gonadal dysgenesis;HP:0009888|Abnormality of secondary sexual hair;HP:0001939|Abnormality of metabolism/homeostasis;HP:0002750|Delayed skeletal maturation;HP:0008214|Decreased serum estradiol;HP:0004349|Reduced bone mineral density;HP:0000144|Decreased fertility
behr syndrome	HP:0000639|Nystagmus;HP:0001257|Spasticity;HP:0001771|Tight achilles tendon;HP:0001251|Ataxia;HP:0001288|Gait disturbance;HP:0000505|Visual impairment;HP:0001347|Hyperreflexia;HP:0000486|Strabismus;HP:0000551|Abnormality of color vision;HP:0001272|Cerebellar atrophy;HP:0003487|Extensor plantar reflexes;HP:0003089|Hamstring contractures;HP:0000648|Optic atrophy;HP:0002191|Progressive spasticity;HP:0006366|Adductor longus contractures;HP:0001249|Mental retardation;HP:0000648|Optic-nerve degeneration;HP:0001249|Intellectual disability
pten hamartoma tumor syndrome	HP:0012740|Papilloma;HP:0012480|Abnormality of cerebral veins;HP:0005987|Multinodular goiter;HP:0045059|Hyperkeratotic papule;HP:0001480|Freckling;HP:0008046|Abnormality of the retinal vasculature;HP:0012032|Lipoma;HP:0012846|Multiple trichilemmomata;HP:0003005|Ganglioneuroma;HP:0012114|Endometrial carcinoma;HP:0005584|Renal cell carcinoma;HP:0010612|Plantar pits;HP:0003003|Colon cancer;HP:0001028|Hemangioma;HP:0000729|Autistic behavior;HP:0002664|Neoplasm;HP:0000256|Macrocephaly;HP:0000077|Abnormality of the kidney;HP:0002597|Abnormality of the vasculature;HP:0001249|Intellectual disability;HP:0002890|Thyroid carcinoma;HP:0200034|Papule;HP:0000854|Thyroid adenoma;HP:0003002|Breast carcinoma
frontal encephalocele	HP:0001250|Seizures;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0000256|Macrocephaly;HP:0000268|Dolichocephaly;HP:0001362|Skull defect;HP:0000316|Hypertelorism;HP:0002084|Encephalocele;HP:0002514|Cerebral calcification;HP:0002415|Leukodystrophy;HP:0000238|Hydrocephalus;HP:0002414|Spina bifida
lathosterolosis	HP:0001830|Postaxial foot polydactyly;HP:0001263|Global developmental delay;HP:0011875|Abnormal platelet morphology;HP:0001336|Myoclonus;HP:0000518|Cataract;HP:0005487|Prominent metopic ridge;HP:0003196|Short nose;HP:0000365|Hearing impairment;HP:0001770|Toe syndactyly;HP:0000218|High palate;HP:0008278|Cerebellar cortical atrophy;HP:0000508|Ptosis;HP:0008736|Hypoplasia of penis;HP:0000347|Micrognathia;HP:0001873|Thrombocytopenia;HP:0000343|Long philtrum;HP:0001162|Postaxial hand polydactyly;HP:0001511|Intrauterine growth retardation;HP:0002308|Arnold-Chiari malformation;HP:0002435|Meningocele;HP:0002714|Downturned corners of mouth;HP:0000494|Downslanted palpebral fissures;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0001406|Intrahepatic cholestasis;HP:0001399|Hepatic failure;HP:0004823|Anisopoikilocytosis;HP:0000293|Full cheeks;HP:0000252|Microcephaly;HP:0002514|Cerebral calcification;HP:0001508|Failure to thrive;HP:0002240|Hepatomegaly;HP:0000085|Horseshoe kidney;HP:0001883|Talipes;HP:0000341|Narrow forehead;HP:0000463|Anteverted nares;HP:0004422|Biparietal narrowing;HP:0001328|Specific learning disability;HP:0100711|Abnormality of the thoracic spine;HP:0000212|Gingival overgrowth;HP:0001252|Muscular hypotonia;HP:0000340|Sloping forehead;HP:0000414|Bulbous nose;HP:0007759|Opacification of the corneal stroma;HP:0000482|Microcornea
bullous impetigo	HP:0010783|Erythema;HP:0100820|Glomerulopathy;HP:0005406|Recurrent bacterial skin infections;HP:0003095|Septic arthritis;HP:0100763|Abnormality of the lymphatic system;HP:0100806|Sepsis;HP:0008066|Abnormal blistering of the skin;HP:0200039|Pustule
transient bullous dermolysis of the newborn	HP:0008066|Skin bullae;HP:0001075|Atrophic scars;HP:0008404|Nail dystrophy;HP:0001939|Laboratory abnormality;HP:0001053|Hypopigmented skin patches;HP:0200097|Oral mucosal blisters;HP:0001056|Milia;HP:0008404|Dystrophic nails;HP:0001030|Fragile skin;HP:0008066|Abnormal blistering of the skin;HP:0001075|Thin, atrophic scars
gracile syndrome	HP:0001994|Renal Fanconi syndrome;HP:0003281|Increased serum ferritin;HP:0012465|Elevated hepatic iron concentration;HP:0001394|Cirrhosis;HP:0001396|Cholestasis;HP:0003128|Lactic acidosis;HP:0000365|Hearing impairment;HP:0001511|Intrauterine growth retardation;HP:0001397|Hepatic steatosis;HP:0012464|Decreased transferrin saturation;HP:0100613|Death in early adulthood
neurogenic thoracic outlet syndrome	HP:0002829|Arthralgia;HP:0003401|Paresthesia;HP:0012534|Dysesthesia;HP:0003326|Myalgia;HP:0000763|Sensory neuropathy;HP:0001324|Muscle weakness;HP:0003457|EMG abnormality;HP:0000772|Abnormality of the ribs
diencephalic syndrome	HP:0000639|Nystagmus;HP:0000708|Behavioral abnormality;HP:0004326|Cachexia;HP:0000975|Hyperhidrosis;HP:0000864|Abnormality of the hypothalamus-pituitary axis;HP:0004325|Decreased body weight;HP:0004375|Neoplasm of the nervous system;HP:0100022|Abnormality of movement;HP:0000400|Macrotia;HP:0001176|Large hands;HP:0000040|Long penis;HP:0000238|Hydrocephalus;HP:0000648|Optic atrophy;HP:0000232|Everted lower lip vermilion
kaufman oculocerebrofacial syndrome	HP:0002643|Respiratory distress, neonatal;HP:0000639|Nystagmus;HP:0000486|Squint eyes;HP:0003300|Oval vertebral bodies;HP:0000670|Dental caries;HP:0000581|Blepharophimosis;HP:0003196|Short nose;HP:0000347|Hypoplasia of mandible;HP:0000248|Brachycephaly;HP:0001840|Forefoot varus;HP:0000275|Decreased width of face;HP:0000699|Diastasis of the teeth;HP:0002019|Dyschezia;HP:0000954|Simian creases;HP:0000286|Palpebronasal fold;HP:0004209|Clinodactyly of fifth digit;HP:0000506|Telecanthus;HP:0008665|Clitoromegaly;HP:0000276|Long face;HP:0000535|Thin, sparse eyebrows;HP:0006511|Laryngeal stridor;HP:0004283|Narrow palm;HP:0000384|Preauricular skin tag;HP:0001249|Mental retardation;HP:0001252|Hypotonia;HP:0000252|Small head circumference;HP:0000543|Pale optic disc;HP:0000545|Near sightedness;HP:0000218|Increased palatal height;HP:0000154|Large mouth;HP:0011302|Long palm;HP:0000582|Upward slanting of palpebral fissures;HP:0000319|Smooth philtrum;HP:0001591|Narrow, bell-shaped thorax;HP:0000219|Decreased height of upper lip vermilion;HP:0000508|Drooping upper eyelid;HP:0000482|Microcornea
free sialic acid storage disease	HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0002305|Athetosis;HP:0007256|Abnormal pyramidal signs;HP:0000657|Oculomotor apraxia;HP:0001000|Abnormality of skin pigmentation;HP:0000093|Proteinuria;HP:0001260|Dysarthria;HP:0001789|Hydrops fetalis;HP:0002205|Recurrent respiratory infections;HP:0001257|Spasticity;HP:0001251|Ataxia;HP:0002652|Skeletal dysplasia;HP:0002167|Neurological speech impairment;HP:0001531|Failure to thrive in infancy;HP:0007730|Iris hypopigmentation;HP:0010318|Aplasia/Hypoplasia of the abdominal wall musculature;HP:0200042|Skin ulcer;HP:0001541|Ascites;HP:0001250|Seizures;HP:0001288|Gait disturbance;HP:0001999|Abnormal facial shape;HP:0002240|Hepatomegaly;HP:0001760|Abnormality of the foot;HP:0001249|Intellectual disability;HP:0001744|Splenomegaly;HP:0000100|Nephrotic syndrome;HP:0001252|Muscular hypotonia;HP:0002817|Abnormality of the upper limb;HP:0004349|Reduced bone mineral density
xanthoma disseminatum	HP:0000159|Abnormality of the lip;HP:0000873|Diabetes insipidus;HP:0002109|Abnormality of the bronchi;HP:0000600|Abnormality of the pharynx;HP:0001600|Abnormality of the larynx;HP:0002797|Osteolysis
floating-harbor syndrome	HP:0000894|Short clavicles;HP:0001263|Global developmental delay;HP:0000470|Short neck;HP:0100736|Abnormality of the soft palate;HP:0010957|Congenital posterior urethral valve;HP:0004322|Short stature;HP:0002019|Constipation;HP:0007058|Generalized cerebral atrophy/hypoplasia;HP:0000358|Posteriorly rotated ears;HP:0000527|Long eyelashes;HP:0000233|Thin vermilion border;HP:0000243|Trigonocephaly;HP:0010761|Broad columella;HP:0008736|Hypoplasia of penis;HP:0001156|Brachydactyly syndrome;HP:0000490|Deeply set eye;HP:0000154|Wide mouth;HP:0000506|Telecanthus;HP:0002564|Malformation of the heart and great vessels;HP:0000486|Strabismus;HP:0002167|Neurological speech impairment;HP:0005692|Joint hyperflexibility;HP:0001511|Intrauterine growth retardation;HP:0003037|Enlarged joints;HP:0002024|Malabsorption;HP:0008872|Feeding difficulties in infancy;HP:0000889|Abnormality of the clavicle;HP:0002474|Expressive language delay;HP:0000403|Recurrent otitis media;HP:0001608|Abnormality of the voice;HP:0002230|Generalized hirsutism;HP:0000448|Prominent nose;HP:0000431|Wide nasal bridge;HP:0004209|Clinodactyly of the 5th finger;HP:0001249|Intellectual disability;HP:0006585|Congenital pseudoarthrosis of the clavicle;HP:0000322|Short philtrum;HP:0001387|Joint stiffness;HP:0002750|Delayed skeletal maturation;HP:0011304|Broad thumb;HP:0000325|Triangular face;HP:0001620|High pitched voice;HP:0100490|Camptodactyly of finger;HP:0000414|Bulbous nose;HP:0001231|Abnormality of the fingernails;HP:0001611|Nasal speech;HP:0000430|Underdeveloped nasal alae
tracheal agenesis	HP:0001671|Abnormality of the cardiac septa;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0100682|Tracheal atresia;HP:0002093|Respiratory insufficiency;HP:0001561|Polyhydramnios
ringed hair	HP:0001595|Hair abnormality
alopecia totalis	HP:0200115|Scalp hair loss;HP:0001596|Alopecia
young syndrome	HP:0002110|Bronchiectasis;HP:0005425|Recurrent sinopulmonary infections;HP:0000027|Azoospermia;HP:0002837|Recurrent bronchitis;HP:0010959|Cystic adenomatoid lung disease;HP:0001732|Abnormality of the pancreas;HP:0011962|Obstructive azoospermia;HP:0000144|Decreased fertility
al amyloidosis	HP:0004926|Orthostatic hypotension due to autonomic dysfunction;HP:0001746|Asplenia;HP:0002239|Gastrointestinal hemorrhage;HP:0002094|Dyspnea;HP:0002202|Pleural effusion;HP:0010676|Mechanical ileus;HP:0001271|Polyneuropathy;HP:0012378|Fatigue;HP:0002019|Constipation;HP:0002579|Gastrointestinal dysmotility;HP:0002781|Upper airway obstruction;HP:0012450|Chronic constipation;HP:0001662|Bradycardia;HP:0000217|Xerostomia;HP:0000093|Proteinuria;HP:0011949|Acute infectious pneumonia;HP:0000083|Renal insufficiency;HP:0001635|Congestive heart failure;HP:0002829|Arthralgia;HP:0002716|Lymphadenopathy;HP:0003115|Abnormal EKG;HP:0003712|Skeletal muscle hypertrophy;HP:0003155|Elevated alkaline phosphatase;HP:0004313|Decreased antibody level in blood;HP:0000158|Macroglossia;HP:0000112|Nephropathy;HP:0002271|Autonomic dysregulation;HP:0000822|Hypertension;HP:0001639|Hypertrophic cardiomyopathy;HP:0000979|Purpura;HP:0000790|Hematuria;HP:0030164|Jaw claudication;HP:0008066|Abnormal blistering of the skin;HP:0002024|Malabsorption;HP:0002916|Abnormality of chromosome segregation;HP:0010741|Edema of the lower limbs;HP:0000105|Enlarged kidney;HP:0011675|Arrhythmia;HP:0000846|Adrenal insufficiency;HP:0002758|Osteoarthritis;HP:0002240|Hepatomegaly;HP:0003040|Arthropathy;HP:0004417|Intermittent claudication;HP:0005508|Waldenstrom macroglobulinemia;HP:0006775|Multiple myeloma;HP:0011857|Plasmacytoma;HP:0002616|Aortic root dilatation;HP:0000853|Goiter;HP:0010287|Abnormality of the submandibular glands;HP:0001097|Keratoconjunctivitis sicca;HP:0005561|Abnormality of bone marrow cell morphology;HP:0006530|Interstitial pulmonary disease;HP:0000100|Nephrotic syndrome;HP:0012115|Hepatitis;HP:0005341|Autonomic bladder dysfunction;HP:0100598|Pulmonary edema;HP:0200036|Skin nodule;HP:0200034|Papule;HP:0010702|Increased antibody level in blood
cheilitis glandularis	HP:0002860|Squamous cell carcinoma;HP:0100825|Inflammation of the lips;HP:0002664|Neoplasm;HP:0000179|Thick lower lip vermilion;HP:0010978|Abnormality of immune system physiology;HP:0010286|Abnormality of the salivary glands;HP:0000232|Everted prominent lower lip
autosomal dominant cerebellar ataxia	HP:0000639|Nystagmus;HP:0001257|Spasticity;HP:0000708|Behavioral abnormality;HP:0003693|Distal amyotrophy;HP:0005978|Type II diabetes mellitus;HP:0001251|Ataxia;HP:0001288|Gait disturbance;HP:0002097|Emphysema;HP:0000544|External ophthalmoplegia;HP:0001605|Vocal cord paralysis;HP:0001272|Cerebellar atrophy;HP:0012074|Tonic pupil;HP:0100022|Abnormality of movement;HP:0007328|Impaired pain sensation;HP:0000648|Optic atrophy;HP:0001315|Reduced tendon reflexes;HP:0007703|Abnormality of retinal pigmentation;HP:0001260|Dysarthria
mitochondrial myopathy and sideroblastic anemia	HP:0000347|Micrognathia;HP:0009055|Generalized limb muscle atrophy;HP:0003128|Lactic acidosis;HP:0003196|Short nose;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0003457|EMG abnormality;HP:0000343|Long philtrum;HP:0009743|Distichiasis;HP:0002808|Kyphosis;HP:0003198|Myopathy;HP:0003737|Mitochondrial myopathy;HP:0000823|Delayed puberty;HP:0000218|High palate;HP:0000501|Glaucoma;HP:0001252|Muscular hypotonia;HP:0001903|Anemia;HP:0001939|Abnormality of metabolism/homeostasis;HP:0001249|Intellectual disability
trisomy 9p	HP:0001263|Global developmental delay;HP:0000470|Short neck;HP:0000615|Abnormality of the pupil;HP:0000248|Brachycephaly;HP:0005105|Abnormal nasal morphology;HP:0000678|Dental crowding;HP:0007477|Abnormal dermatoglyphics;HP:0001156|Brachydactyly syndrome;HP:0000490|Deeply set eye;HP:0007598|Bilateral single transverse palmar creases;HP:0000316|Hypertelorism;HP:0000960|Sacral dimple;HP:0002714|Downturned corners of mouth;HP:0100335|Non-midline cleft lip;HP:0000494|Downslanted palpebral fissures;HP:0011079|Impacted tooth;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0002808|Kyphosis;HP:0004209|Clinodactyly of the 5th finger;HP:0100798|Fingernail dysplasia;HP:0001249|Intellectual disability;HP:0006610|Wide intermamillary distance;HP:0001800|Hypoplastic toenails;HP:0000411|Protruding ear;HP:0000400|Macrotia;HP:0001804|Hypoplastic fingernail
proliferating trichilemmal cyst	HP:0200040|Epidermoid cyst;HP:0200042|Skin ulcer;HP:0002209|Sparse scalp hair
brachydactyly type c	HP:0010743|Short metatarsal;HP:0004322|Short stature;HP:0009684|Stippling of the epiphysis of the distal phalanx of the thumb;HP:0009773|Symphalangism affecting the phalanges of the hand;HP:0010508|Metatarsus valgus;HP:0005819|Short middle phalanx of finger;HP:0009606|Complete duplication of distal phalanx of the thumb;HP:0009465|Ulnar deviation of finger;HP:0010579|Cone-shaped epiphysis;HP:0009373|Type C brachydactyly;HP:0004209|Clinodactyly of the 5th finger;HP:0001231|Abnormality of the fingernails;HP:0009495|Pseudoepiphyses of the 2nd finger;HP:0010026|Aplasia/Hypoplasia of the 1st metacarpal
paroxysmal cold hemoglobinuria	HP:0002829|Arthralgia;HP:0003418|Back pain;HP:0003641|Hemoglobinuria;HP:0012086|Abnormal urinary color;HP:0002014|Diarrhea;HP:0004844|Coombs-positive hemolytic anemia;HP:0001890|Autoimmune hemolytic anemia;HP:0002017|Nausea and vomiting;HP:0001945|Fever;HP:0002315|Headache;HP:0002205|Recurrent respiratory infections
wildervanck syndrome	HP:0002162|Low posterior hairline;HP:0000324|Asymmetry of face;HP:0000470|Short neck;HP:0000324|Facial asymmetry;HP:0008527|Congenital sensorineural hearing impairment;HP:0000465|Pterygium colli;HP:0001132|Lens subluxation;HP:0000465|Webbed neck;HP:0000365|Hearing impairment;HP:0011349|Abducens palsy;HP:0002949|Fused cervical vertebrae;HP:0010628|Facial palsy;HP:0000356|Ear anomalies;HP:0002435|Meningocele;HP:0000538|Pseudopapilledema;HP:0000384|Preauricular skin tag
alpha-ketoglutarate dehydrogenase deficiency	HP:0002151|Increased serum lactate;HP:0001252|Hypotonia;HP:0001942|Metabolic acidosis;HP:0004902|Congenital lactic acidosis
hypoplasminogenemia	HP:0000137|Abnormality of the ovary;HP:0002588|Duodenal ulcer;HP:0011027|Abnormality of the fallopian tube;HP:0030160|Cervicitis;HP:0000504|Abnormality of vision;HP:0000230|Gingivitis;HP:0000787|Nephrolithiasis;HP:0040228|Decreased level of plasminogen;HP:0000704|Periodontitis;HP:0000951|Abnormality of the skin;HP:0002086|Abnormality of the respiratory system;HP:0000212|Gingival overgrowth;HP:0000370|Abnormality of the middle ear;HP:0000238|Hydrocephalus;HP:0001305|Dandy-Walker malformation;HP:0000478|Abnormality of the eye
malakoplakia	HP:0000157|Abnormality of the tongue;HP:0100796|Orchitis;HP:0100577|Urinary bladder inflammation;HP:0002027|Abdominal pain;HP:0000464|Abnormality of the neck;HP:0001482|Subcutaneous nodule;HP:0011123|Inflammatory abnormality of the skin;HP:0000093|Proteinuria;HP:0002729|Follicular hyperplasia;HP:0000019|Urinary hesitancy;HP:0002014|Diarrhea;HP:0200042|Skin ulcer;HP:0000012|Urinary urgency;HP:0000790|Hematuria;HP:0000140|Abnormality of the menstrual cycle;HP:0100743|Neoplasm of the rectum;HP:0100518|Dysuria;HP:0100787|Prostate neoplasm;HP:0001945|Fever;HP:0100273|Neoplasm of the colon;HP:0012735|Cough;HP:0000988|Skin rash;HP:0001892|Abnormal bleeding;HP:0002721|Immunodeficiency;HP:0100749|Chest pain;HP:0000989|Pruritus;HP:0200034|Papule
cerebellar hypoplasia	HP:0001252|Hypotonia;HP:0000639|Nystagmus;HP:0001337|Tremor;HP:0001251|Ataxia;HP:0001321|Small cerebellum
isolated ectopia lentis	HP:0000639|Nystagmus;HP:0001083|Ectopia lentis;HP:0000505|Visual impairment;HP:0000518|Cataract;HP:0000303|Mandibular prognathia;HP:0000646|Amblyopia;HP:0001387|Joint stiffness;HP:0100543|Cognitive impairment;HP:0000822|Hypertension;HP:0000272|Malar flattening;HP:0001083|Dislocated lenses;HP:0009918|Ectopia pupillae
dopa-responsive dystonia	HP:0001257|Spasticity;HP:0100022|Abnormality of movement;HP:0001288|Gait disturbance
thyroid lymphoma	HP:0000853|Goiter;HP:0002716|Lymphadenopathy;HP:0002098|Respiratory distress;HP:0002094|Dyspnea;HP:0010307|Stridor;HP:0002665|Lymphoma;HP:0002015|Dysphagia;HP:0000872|Hashimoto thyroiditis;HP:0012531|Pain;HP:0002781|Upper airway obstruction;HP:0000475|Broad neck;HP:0001609|Hoarse voice;HP:0000821|Hypothyroidism;HP:0000836|Hyperthyroidism
elastosis perforans serpiginosa	HP:0003764|Naevus
juvenile primary lateral sclerosis	HP:0000183|Difficulty in tongue movements;HP:0002015|Dysphagia;HP:0007256|Abnormal pyramidal signs;HP:0002491|Spasticity of facial muscles;HP:0001152|Saccadic pursuit movements;HP:0002501|Spasticity of pharyngeal muscles;HP:0001257|Spasticity;HP:0002064|Spastic gait;HP:0002127|Abnormal shape of upper motor neuron;HP:0002141|Gait imbalance;HP:0002120|Cerebral cortical atrophy;HP:0001285|Spastic tetraparesis;HP:0002371|Loss of speech;HP:0000763|Sensory neuropathy;HP:0002193|Pseudobulbar behavioral symptoms;HP:0002015|Swallowing difficulty;HP:0002464|Spastic dysarthria;HP:0000014|Abnormality of the bladder;HP:0002127|Abnormal upper motor neuron morphology;HP:0001324|Muscle weakness;HP:0001347|Hyperreflexia;HP:0003487|Extensor plantar reflexes;HP:0003202|Skeletal muscle atrophy
hypertrichosis lanuginosa congenita	HP:0000365|Hearing impairment;HP:0010730|Double eyebrow;HP:0000164|Abnormality of the teeth;HP:0000684|Delayed eruption of teeth;HP:0000212|Gingival overgrowth;HP:0000574|Thick eyebrow;HP:0001000|Abnormality of skin pigmentation;HP:0002230|Generalized hirsutism;HP:0004540|Hypertrichosis universalis
familial isolated hyperparathyroidism	HP:0003109|Hyperphosphaturia;HP:0003072|Hypercalcemia;HP:0040160|Generalized osteoporosis;HP:0002150|Hypercalciuria;HP:0011458|Abdominal symptom;HP:0000121|Nephrocalcinosis;HP:0003165|Elevated circulating parathyroid hormone level;HP:0000938|Osteopenia;HP:0000934|Chondrocalcinosis;HP:0008250|Infantile hypercalcemia;HP:0008200|Primary hyperparathyroidism;HP:0002148|Hypophosphatemia;HP:0002897|Parathyroid adenoma;HP:0000083|Renal insufficiency
adult neuronal ceroid lipofuscinosis	HP:0002071|Extrapyramidal dysfunction;HP:0001336|Myoclonus;HP:0001268|Mental deterioration;HP:0007256|Abnormal pyramidal signs;HP:0000572|Visual loss;HP:0001336|Myoclonic jerks;HP:0008765|Auditory hallucinations;HP:0003208|Fingerprint profiles ultrastructurally;HP:0002059|Degeneration of cerebrum;HP:0001251|Ataxia;HP:0002074|Increased neuronal autofluorescent lipopigment;HP:0002310|Orofacial dyskinesia;HP:0003657|Granular osmiophilic deposits (GROD) in cells;HP:0002367|Visual hallucinations;HP:0001250|Seizures;HP:0002071|Abnormality of extrapyramidal motor function;HP:0000726|Dementia;HP:0000648|Optic atrophy;HP:0003205|'curvilinear profiles' ultrastructurally;HP:0002352|Leukoencephalopathy;HP:0002333|Motor deterioration;HP:0003226|Rectilinear profiles ultrastructurally;HP:0000716|Depression;HP:0000725|Psychotic episodes;HP:0002123|Generalized myoclonic seizures
vernal keratoconjunctivitis	HP:0000481|Abnormality of the cornea;HP:0000632|Lacrimation abnormality;HP:0000591|Abnormality of the sclera;HP:0012393|Allergy;HP:0000613|Photophobia;HP:0000989|Pruritus;HP:0011496|Corneal neovascularization;HP:0000502|Abnormality of the conjunctiva;HP:0011859|Punctate keratitis;HP:0100699|Scarring
epidermolysis bullosa simplex with mottled pigmentation	HP:0008404|Nail dystrophy;HP:0004334|Dermal atrophy;HP:0001053|Hypopigmented skin patches;HP:0000978|Bruising susceptibility;HP:0001056|Milia;HP:0007427|Reticulated skin pigmentation;HP:0007495|Prematurely aged appearance;HP:0008066|Abnormal blistering of the skin;HP:0000982|Palmoplantar keratoderma
congenital lobar emphysema	HP:0006539|Bronchial cartilage hypoplasia;HP:0002098|Respiratory distress;HP:0002097|Emphysema;HP:0010978|Abnormality of immune system physiology
nephrogenic syndrome of inappropriate antidiuresis	HP:0001250|Seizures;HP:0002902|Hyponatremia;HP:0000737|Irritability;HP:0003351|Decreased plasma renin activity;HP:0012605|Hypernatriuria;HP:0004421|Elevated systolic blood pressure
weyers acrofacial dysostosis	HP:0003502|Mild short stature;HP:0001830|Posterior polydactyly of foot;HP:0004209|Clinodactyly of fifth digit;HP:0006315|Single central upper incisor;HP:0004279|Hypoplastic hands;HP:0000395|Prominent antihelix;HP:0002164|Nail dysplasia;HP:0001792|Hypoplastic nails;HP:0001162|Postaxial polydactyly of fingers;HP:0000698|Peg tooth;HP:0001156|Brachydactyly;HP:0000601|Closely spaced eyes
ovarian fibroma	HP:0000137|Abnormality of the ovary;HP:0003270|Abdominal distention;HP:0002202|Pleural effusion;HP:0010618|Ovarian fibroma;HP:0002027|Abdominal pain;HP:0010603|Keratocystic odontogenic tumor;HP:0008703|Gonadal calcification;HP:0001541|Ascites;HP:0002586|Peritonitis;HP:0030451|Mesenteric cyst;HP:0002671|Basal cell carcinoma
mercury poisoning	HP:0001919|Acute kidney injury;HP:0001250|Seizures;HP:0002572|Episodic vomiting;HP:0002094|Dyspnea;HP:0002018|Nausea;HP:0001289|Confusion;HP:0001337|Tremor;HP:0002878|Respiratory failure;HP:0002900|Hypokalemia;HP:0006515|Interstitial pneumonitis;HP:0002615|Hypotension;HP:0000822|Hypertension;HP:0001332|Dystonia;HP:0002500|Abnormality of the cerebral white matter;HP:0007185|Loss of consciousness;HP:0100785|Insomnia;HP:0002574|Episodic abdominal pain;HP:0001649|Tachycardia;HP:0003324|Generalized muscle weakness;HP:0002098|Respiratory distress;HP:0002039|Anorexia
partington syndrome	HP:0000325|Triangular face;HP:0001511|Prenatal onset growth retardation;HP:0000957|Cafe-au-lait macules
aromatic l-amino acid decarboxylase deficiency	HP:0002020|Heartburn;HP:0001266|Choreoathetosis;HP:0001336|Myoclonic jerks;HP:0002615|Low blood pressure;HP:0002019|Dyschezia;HP:0000712|Emotional instability;HP:0002014|Diarrhea;HP:0002451|Limb dystonia;HP:0008872|Feeding difficulties in infancy;HP:0000975|Increased sweating;HP:0001263|Developmental retardation;HP:0000616|Constricted pupils;HP:0002360|Sleep disturbance;HP:0008936|Truncal hypotonia;HP:0001347|Hyperreflexia;HP:0005968|Temperature instability;HP:0002509|Limb hypertonia;HP:0000737|Irritability;HP:0003487|Extensor plantar reflexes;HP:0005964|Intermittent abnormally low body temperature;HP:0000508|Drooping upper eyelid;HP:0000271|Abnormal face;HP:0003785|Decreased CSF homovanillic acid
laryngoonychocutaneous syndrome	HP:0000705|Amelogenesis imperfecta;HP:0001615|Hoarse cry;HP:0001612|Weak cry;HP:0000478|Abnormal eye;HP:0200042|Skin ulcer;HP:0008390|Recurrent shedding of toenails and fingernails
familial progressive hyperpigmentation	HP:0000962|Hyperkeratosis;HP:0001003|Multiple lentigines;HP:0001045|Blotchy loss of skin color;HP:0001053|Hypopigmented skin patches;HP:0007505|Progressive hyperpigmentation;HP:0000957|Cafe-au-lait macules
ablepharon macrostomia syndrome	HP:0001263|Global developmental delay;HP:0011224|Ablepharon;HP:0010720|Abnormal hair pattern;HP:0000545|Myopia;HP:0002213|Fine hair;HP:0000365|Hearing impairment;HP:0001126|Cryptophthalmos;HP:0000561|Absent eyelashes;HP:0001000|Abnormality of skin pigmentation;HP:0001770|Toe syndactyly;HP:0000233|Thin vermilion border;HP:0005280|Depressed nasal bridge;HP:0008736|Hypoplasia of penis;HP:0000750|Delayed speech and language development;HP:0000963|Thin skin;HP:0007392|Excessive wrinkled skin;HP:0000154|Wide mouth;HP:0001537|Umbilical hernia;HP:0200020|Corneal erosion;HP:0006709|Aplasia/Hypoplasia of the nipples;HP:0002223|Absent eyebrow;HP:0000062|Ambiguous genitalia;HP:0001510|Growth delay;HP:0000413|Atresia of the external auditory canal;HP:0007957|Corneal opacity;HP:0003187|Breast hypoplasia;HP:0000327|Hypoplasia of the maxilla;HP:0001539|Omphalocele;HP:0008070|Sparse hair;HP:0000691|Microdontia;HP:0000505|Visual impairment;HP:0000958|Dry skin;HP:0001582|Redundant skin;HP:0000463|Anteverted nares;HP:0100490|Camptodactyly of finger;HP:0008551|Microtia;HP:0000055|Abnormality of female external genitalia;HP:0010669|Cheekbone underdevelopment;HP:0000430|Underdeveloped nasal alae
nasu-hakola disease	HP:0011096|Demyelination;HP:0001760|Foot deformities;HP:0001155|Hand anomalies;HP:0000757|Lack of insight;HP:0002135|Basal ganglia calcification;HP:0002079|Hypoplasia of the corpus callosum;HP:0002186|Apraxia;HP:0002653|Bone pain;HP:0002340|Caudate atrophy;HP:0000657|Oculomotor apraxia;HP:0002119|Ventriculomegaly;HP:0002354|Memory impairment;HP:0005930|Abnormality of epiphysis morphology;HP:0000238|Hydrocephalus;HP:0000020|Bladder incontinence;HP:0002072|Chorea;HP:0001376|Limitation of joint mobility;HP:0002376|Developmental regression;HP:0001336|Myoclonic jerks;HP:0002829|Arthralgia;HP:0001257|Spasticity;HP:0002059|Degeneration of cerebrum;HP:0002652|Skeletal dysplasia;HP:0012719|Functional abnormality of the gastrointestinal tract;HP:0003447|Axonal loss;HP:0002127|Abnormal shape of upper motor neuron;HP:0002167|Neurological speech impairment;HP:0009124|Abnormality of adipose tissue;HP:0002120|Cerebral cortical atrophy;HP:0001250|Seizures;HP:0000708|Behavioral abnormality;HP:0001288|Gait disturbance;HP:0012062|Bone cysts;HP:0100022|Abnormality of movement;HP:0002353|Abnormal EEG;HP:0002514|Cerebral calcification;HP:0002171|Cerebral gliosis;HP:0002354|Memory loss;HP:0000751|Personality changes;HP:0000727|Frontal lobe dementia;HP:0002352|Leukoencephalopathy;HP:0012062|Bone cyst;HP:0002167|Speech disorder;HP:0002488|Acute leukemia;HP:0003487|Extensor plantar reflexes;HP:0000737|Irritability;HP:0002756|Pathologic fracture;HP:0010524|Agnosia;HP:0002476|Primitive reflex;HP:0004349|Reduced bone mineral density;HP:0000734|Disinhibition;HP:0000718|Aggressive behaviour
amish lethal microcephaly	HP:0001274|Agenesis of corpus callosum;HP:0001320|Cerebellar vermis hypoplasia;HP:0002119|Ventriculomegaly;HP:0001992|Organic aciduria;HP:0001376|Limitation of joint mobility;HP:0001339|Lissencephaly;HP:0000347|Micrognathia;HP:0001522|Death in infancy;HP:0011344|Severe global developmental delay;HP:0004331|Decreased skull ossification;HP:0002414|Spina bifida;HP:0011968|Feeding difficulties;HP:0001942|Metabolic acidosis;HP:0000252|Microcephaly;HP:0000939|Osteoporosis;HP:0000648|Optic atrophy;HP:0002240|Hepatomegaly;HP:0002069|Generalized tonic-clonic seizures;HP:0001558|Decreased fetal movement;HP:0002509|Limb hypertonia;HP:0005968|Temperature instability;HP:0000737|Irritability;HP:0001252|Muscular hypotonia;HP:0000185|Cleft soft palate;HP:0000340|Sloping forehead
cerebro-costo-mandibular syndrome	HP:0002643|Respiratory distress, neonatal;HP:0001611|Hypernasal speech;HP:0000465|Pterygium colli;HP:0010290|Decreased length of hard palate;HP:0000347|Hypoplasia of mandible;HP:0000878|11 pairs of ribs;HP:0002132|Porencephaly;HP:0000343|Vertical hyperplasia of philtrum;HP:0001629|Ventricular septal defects;HP:0006593|Anomalous rib insertion to vertebrae;HP:0001561|Hydramnios;HP:0000086|Ectopic kidney;HP:0000286|Palpebronasal fold;HP:0001374|Congenital hip dislocation;HP:0000162|Retraction of the tongue;HP:0004209|Clinodactyly of fifth digit;HP:0008897|Growth retardation as children;HP:0000369|Low-set ears;HP:0000107|Renal cyst;HP:0004468|Abnormal tracheal cartilaginous ring;HP:0000164|Abnormality of the teeth;HP:0000358|Ear, posterior angulation, increased;HP:0001249|Mental retardation;HP:0005257|Small chest;HP:0000252|Small head circumference;HP:0000218|Increased palatal height;HP:0002650|Scoliosis;HP:0004695|Calcaneal epiphyseal stippling;HP:0001591|Narrow, bell-shaped thorax;HP:0002987|Elbow contracture;HP:0000272|Depressed malar region;HP:0000405|Conductive hearing loss;HP:0000185|Cleft velum;HP:0005792|Short upper arms
congenital dyserythropoietic anemia type iii	HP:0012378|Fatigue;HP:0004322|Short stature;HP:0004810|Congenital hypoplastic anemia;HP:0025035|Abnormal proerythroblast morphology;HP:0003452|Increased serum iron;HP:0005518|Increased mean corpuscular volume;HP:0030140|Oral cavity bleeding;HP:0002904|Hyperbilirubinemia;HP:0001903|Anemia;HP:0004447|Poikilocytosis;HP:0000225|Gingival bleeding;HP:0012130|Abnormality of cells of the erythroid lineage;HP:0011273|Anisocytosis;HP:0001972|Macrocytic anemia;HP:0002910|Elevated hepatic transaminases;HP:0000952|Yellow skin;HP:0012543|Hemosiderinuria;HP:0002249|Melena;HP:0025196|Increased total iron binding capacity;HP:0025354|Abnormal cellular phenotype;HP:0011891|Post-partum hemorrhage;HP:0000980|Pallor;HP:0002315|Headache;HP:0001877|Abnormality of erythrocytes
familial gestational hyperthyroidism	HP:0000836|Overactive thyroid;HP:0000752|Hyperactivity;HP:0000853|Goiter;HP:0012188|Hyperemesis gravidarum;HP:0011784|Thyrotoxicosis with diffuse goiter;HP:0000520|Proptosis;HP:0001270|Motor delay;HP:0011790|Activating thyroid-stimulating hormone receptor (TSHR) defect;HP:0002014|Diarrhea;HP:0002378|Hand tremor;HP:0001824|Weight loss;HP:0000713|Agitation;HP:0030057|Autoimmune antibody positivity;HP:0008249|Thyroid hyperplasia;HP:0002360|Sleep disturbance;HP:0001673|Tachycardia (with pheochromocytoma);HP:0000836|Hyperthyroidism
drug-induced lupus erythematosus	HP:0002094|Dyspnea;HP:0025300|Malar rash;HP:0005421|Decreased serum complement C3;HP:0001698|Pericardial effusion;HP:0002829|Arthralgia;HP:0000967|Petechiae;HP:0003326|Myalgia;HP:0003565|Elevated erythrocyte sedimentation rate;HP:0001873|Thrombocytopenia;HP:0003236|Elevated serum creatine phosphokinase;HP:0045042|Decreased serum complement C4;HP:0000790|Hematuria;HP:0005184|Prolonged QTc interval;HP:0001903|Anemia;HP:0025343|Lupus anticoagulant;HP:0003493|Antinuclear antibody positivity;HP:0001945|Fever;HP:0025142|Constitutional symptom;HP:0030057|Autoimmune antibody positivity;HP:0001701|Pericarditis;HP:0003138|Increased blood urea nitrogen;HP:0045073|Serositis;HP:0011227|Elevated C-reactive protein level
megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0100026|Arteriovenous malformation;HP:0001263|Global developmental delay;HP:0002119|Ventriculomegaly;HP:0100585|Telangiectasia of the skin;HP:0001770|Toe syndactyly;HP:0002637|Cerebral ischemia;HP:0100555|Asymmetric growth;HP:0005280|Depressed nasal bridge;HP:0000490|Deeply set eye;HP:0000965|Cutis marmorata;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0006101|Finger syndactyly;HP:0000154|Wide mouth;HP:0002007|Frontal bossing;HP:0002564|Malformation of the heart and great vessels;HP:0005692|Joint hyperflexibility;HP:0002308|Arnold-Chiari malformation;HP:0001829|Foot polydactyly;HP:0001052|Nevus flammeus;HP:0000324|Facial asymmetry;HP:0002664|Neoplasm;HP:0000256|Macrocephaly;HP:0000293|Full cheeks;HP:0011675|Arrhythmia;HP:0100761|Visceral angiomatosis;HP:0001508|Failure to thrive;HP:0000648|Optic atrophy;HP:0001249|Intellectual disability;HP:0000348|High forehead;HP:0002126|Polymicrogyria;HP:0001034|Hypermelanotic macule;HP:0001161|Hand polydactyly;HP:0012639|Abnormality of nervous system morphology;HP:0001252|Muscular hypotonia;HP:0000238|Hydrocephalus
benign familial neonatal seizures	HP:0002069|Generalized tonic clonic seizures;HP:0002266|Localized clonic seizure
galactose epimerase deficiency	HP:0001263|Global developmental delay;HP:0001744|Splenomegaly;HP:0000518|Cataract;HP:0003355|Aminoaciduria;HP:0001824|Weight loss;HP:0002017|Nausea and vomiting;HP:0004915|Impairment of galactose metabolism;HP:0001252|Muscular hypotonia;HP:0000952|Jaundice;HP:0002240|Hepatomegaly;HP:0011968|Feeding difficulties;HP:0001510|Growth delay;HP:0001249|Intellectual disability
sarcosinemia	HP:0010896|Hypersarcosinemia
craniofacial-deafness-hand syndrome	HP:0000160|Narrow mouth;HP:0000457|Depressed nasal ridge;HP:0012368|Flat face;HP:0000327|Hypoplasia of the maxilla;HP:0000581|Blepharophimosis;HP:0000275|Narrow face;HP:0003049|Ulnar deviation of the wrist;HP:0003019|Abnormality of the wrist;HP:0000316|Hypertelorism;HP:0003196|Short nose;HP:0009924|Aplasia/Hypoplasia involving the nose;HP:0100490|Camptodactyly of finger;HP:0009465|Ulnar deviation of finger;HP:0000564|Lacrimal duct atresia;HP:0005280|Depressed nasal bridge;HP:0000407|Sensorineural hearing impairment;HP:0000494|Downslanted palpebral fissures
serkal syndrome	HP:0000202|Oral cleft;HP:0000047|Hypospadias;HP:0000834|Abnormality of the adrenal glands;HP:0004794|Malrotation of small bowel;HP:0002089|Pulmonary hypoplasia;HP:0001629|Ventricular septal defect;HP:0030680|Abnormality of cardiovascular system morphology;HP:0005944|Bilateral pulmonary agenesis;HP:0000104|Renal agenesis;HP:0001562|Oligohydramnios;HP:0012245|Sex reversal;HP:0000036|Abnormality of the penis;HP:0000776|Congenital diaphragmatic hernia;HP:0005343|Hypoplasia of the bladder;HP:0001642|Pulmonic stenosis;HP:0001510|Growth delay;HP:0011743|Adrenal gland agenesis
dissecting cellulitis of the scalp	HP:0100658|Cellulitis;HP:0100809|Scalp tenderness;HP:0001482|Subcutaneous nodule;HP:0000989|Pruritus;HP:0001595|Abnormality of the hair;HP:0002293|Scalp hair loss;HP:0012322|Perifolliculitis;HP:0001581|Recurrent skin infections;HP:0000969|Edema
auriculo-condylar syndrome	HP:0000311|Round facial shape;HP:0000689|Misalignment of upper and lower dental arches;HP:0000402|Stenosis of the external auditory canal;HP:0000347|Hypoplasia of mandible;HP:0000256|Macrocrania;HP:0005216|Chewing difficulties;HP:0000678|Dental crowding;HP:0008537|Cleft at the superior portion of the pinna;HP:0007628|Hypoplasia of subcondylar region of mandible;HP:0000162|Retraction of the tongue;HP:0009088|Speech articulation difficulties;HP:0000369|Low-set ears;HP:0000175|Palatoschisis;HP:0000358|Ear, posterior angulation, increased;HP:0000384|Preauricular skin tag;HP:0004451|Postauricular acrochordon;HP:0004453|Reduced anterior-posterior diameter of vertebral bodies;HP:0000160|Small mouth;HP:0007627|Mandibular condyle aplasia;HP:0000378|Cupped ear;HP:0008559|Underdeveloped superior helices;HP:0002104|Absence of spontaneous respiration;HP:0009102|Gap between upper and lower front teeth when biting
monosomy 22q13	HP:0001263|Global developmental delay;HP:0001274|Agenesis of corpus callosum;HP:0000307|Pointed chin;HP:0000365|Hearing impairment;HP:0001176|Large hands;HP:0000527|Long eyelashes;HP:0000678|Dental crowding;HP:0008278|Cerebellar cortical atrophy;HP:0001004|Lymphedema;HP:0000508|Ptosis;HP:0000750|Delayed speech and language development;HP:0000752|Hyperactivity;HP:0000490|Deeply set eye;HP:0100702|Arachnoid cyst;HP:0012167|Hair-pulling;HP:0001537|Umbilical hernia;HP:0000126|Hydronephrosis;HP:0012787|Recurrent pyelonephritis;HP:0000486|Strabismus;HP:0000960|Sacral dimple;HP:0002017|Nausea and vomiting;HP:0000574|Thick eyebrow;HP:0000540|Hypermetropia;HP:0003763|Bruxism;HP:0000076|Vesicoureteral reflux;HP:0011968|Feeding difficulties;HP:0002020|Gastroesophageal reflux;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000729|Autistic behavior;HP:0000256|Macrocephaly;HP:0000966|Hypohidrosis;HP:0000293|Full cheeks;HP:0000272|Malar flattening;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0000268|Dolichocephaly;HP:0002360|Sleep disturbance;HP:0005616|Accelerated skeletal maturation;HP:0001249|Intellectual disability;HP:0001319|Neonatal hypotonia;HP:0000110|Renal dysplasia;HP:0001800|Hypoplastic toenails;HP:0001513|Obesity;HP:0002721|Immunodeficiency;HP:0000400|Macrotia;HP:0007328|Impaired pain sensation;HP:0000414|Bulbous nose;HP:0000689|Dental malocclusion;HP:0001581|Recurrent skin infections;HP:0100540|Palpebral edema
stargardt disease 1	HP:0008035|Retinitis pigmentosa inversa;HP:0011504|Bull's eye maculopathy;HP:0000608|Macular degeneration
meige disease	HP:0000175|Palatoschisis;HP:0011367|Yellow nails;HP:0003550|Predominantly lower limb lymphedema;HP:0003759|Underdeveloped lymphatic vessels
hypertrichotic osteochondrodysplasia	HP:0005129|Congenital hypertrophy of left ventricle;HP:0005445|Widened posterior fossa;HP:0003300|Oval vertebral bodies;HP:0000215|Increased volume of upper lip;HP:0001698|Pericardial effusions;HP:0000463|Nostrils anteverted;HP:0000256|Macrocrania;HP:0010109|Hypoplastic big toes;HP:0002690|Hyperplasia of sella turcica;HP:0000527|Long eyelashes;HP:0000343|Vertical hyperplasia of philtrum;HP:0000470|Decreased cervical height;HP:0000286|Palpebronasal fold;HP:0004975|Erlenmeyer flask femora;HP:0000179|Plump lower lip;HP:0003016|Wide metaphyses;HP:0008822|Hypoplastic ischiopubic rami;HP:0001643|Persistent ductus arteriosus;HP:0001647|Bicuspid aortic valve;HP:0005280|Flat, nasal bridge;HP:0002750|Delayed bone maturation;HP:0000939|Osteoporosis;HP:0000774|Low chest circumference;HP:0001537|Umbilical hernias;HP:0000431|Broad nasal root;HP:0001004|Lymphatic obstruction;HP:0004540|Hypertrichosis universalis;HP:0000926|Flattened vertebral bodies;HP:0007665|Curly eyelashes;HP:0001520|Birthweight > 90th percentile;HP:0004634|Cuboid-shaped vertebral bodies;HP:0001640|Increased heart size;HP:0000280|Coarse facial features;HP:0010068|Broad 1st metatarsal;HP:0000212|Gingival overgrowth;HP:0010055|Abnormally broad great toes;HP:0011220|Prominent forehead;HP:0001256|Mild mental retardation;HP:0002673|Coxa valga
scapuloperoneal spinal muscular atrophy	HP:0009060|Scapular muscle atrophy;HP:0007269|Spinal muscle wasting;HP:0009049|Peroneal atrophy
hereditary neutrophilia	HP:0001433|Enlarged liver and spleen;HP:0002684|Thickened calvarium;HP:0008318|Elevated leukocyte alkaline phosphatase;HP:0002863|Myelodysplastic syndrome
childhood apraxia of speech	HP:0000750|Late-onset speech development;HP:0002134|Abnormality of the basal ganglia;HP:0002546|Incomprehensible speech;HP:0000271|Abnormal face;HP:0007301|Oromotor apraxia
2q37 deletion syndrome	HP:0010049|Metacarpal hypoplasia;HP:0000311|Round facial shape;HP:0001682|Subvalvular aortic stenosis;HP:0007021|Absence of pain sensation;HP:0011800|Midface, flat;HP:0000248|Brachycephaly;HP:0000283|Horizontal excess of face;HP:0004322|Stature below 3rd percentile;HP:0001831|Short toes;HP:0011675|Arrhythmias;HP:0100716|Autoagression;HP:0001249|Mental retardation;HP:0001250|Seizures;HP:0001263|Developmental retardation;HP:0001265|Decreased tendon reflexes;HP:0000455|Increased breadth of tip of nose;HP:0000272|Depressed malar region;HP:0009803|Hypoplastic/small phalanges of the hand;HP:0001513|Obesity;HP:0010743|Shortened metatarsals;HP:0000407|sensorineural hearing loss;HP:0000964|Eczema;HP:0000752|Hyperactive behavior;HP:0000718|Aggressive behaviour
multiple familial trichoepithelioma	HP:0002671|Basalioma
congenital bilateral perisylvian syndrome	HP:0000750|Late-onset speech development;HP:0007270|Atypical absence seizures;HP:0007024|Pseudobulbar palsy;HP:0100543|Cognitive deficits;HP:0002126|Polymicrogyria;HP:0010522|Dyslexia;HP:0002069|Generalized tonic clonic seizures
michels syndrome	HP:0002558|accessory mamilla;HP:0000501|Glaucoma;HP:0002553|Highly arched eyebrow;HP:0000593|Anterior chamber anomalies;HP:0000581|Blepharophimosis;HP:0000316|Increased distance between eye sockets;HP:0000678|Dental crowding;HP:0000537|Epicanthus inversus;HP:0009891|Flat supraorbital margins;HP:0004209|Clinodactyly of fifth digit;HP:0008897|Growth retardation as children;HP:0000126|Hydronephrosis;HP:0003298|Spina bifida occulta;HP:0000204|Cleft upper lip;HP:0000960|Sacral dimple;HP:0000175|Palatoschisis;HP:0009237|Short little finger;HP:0000252|Small head circumference;HP:0006216|Fifth finger single interphalangeal crease;HP:0004443|Lambdoid suture synostosis;HP:0000524|Telangiectasia, conjunctival;HP:0000260|Wide anterior fontanel;HP:0001539|Omphalocele;HP:0002974|Fused forearm bones;HP:0004440|Craniosynostosis of coronal suture;HP:0001769|Broad foot;HP:0000496|Ocular movement abnormalities;HP:0000405|Conductive hearing loss;HP:0001773|Small feet;HP:0002678|Asymmetry of skull;HP:0001510|Growth deficiency;HP:0001256|Mild mental retardation;HP:0000508|Drooping upper eyelid
gaba-transaminase deficiency	HP:0001250|Seizures;HP:0002415|Degeneration of white matter of brain;HP:0001263|Developmental retardation;HP:0001347|Hyperreflexia;HP:0001254|Lethargy;HP:0000098|Increased body height;HP:0000278|Receding lower jaw;HP:0000494|Downward slanting palpebral fissures;HP:0001274|Absent corpus callosum;HP:0001321|Small cerebellum;HP:0007291|Posterior fossa cyst;HP:0006829|Severe muscular hypotonia
acromesomelic dysplasia, maroteaux type	HP:0008422|Vertebral wedging;HP:0003312|Abnormal form of the vertebral bodies;HP:0003300|Ovoid vertebral bodies;HP:0006487|Bowing of the long bones;HP:0002007|Frontal bossing;HP:0001387|Joint stiffness;HP:0003307|Hyperlordosis;HP:0002650|Scoliosis;HP:0005280|Depressed nasal bridge;HP:0003498|Disproportionate short stature;HP:0005692|Joint hyperflexibility;HP:0003086|Acromesomelia;HP:0002808|Kyphosis;HP:0004568|Beaking of vertebral bodies;HP:0011220|Prominent forehead;HP:0000912|Sprengel anomaly;HP:0000268|Dolichocephaly;HP:0001156|Brachydactyly syndrome
ceroid lipofuscinosis, neuronal, 3	HP:0001317|Abnormality of the cerebellum;HP:0002505|Progressive inability to walk;HP:0001300|Parkinsonism;HP:0001336|Myoclonic jerks;HP:0000648|Optic-nerve degeneration;HP:0003208|Fingerprint profiles ultrastructurally;HP:0002059|Degeneration of cerebrum;HP:0000529|Slowly progressive visual loss;HP:0002074|Increased neuronal autofluorescent lipopigment;HP:0000618|Blindness;HP:0000739|Anxiety;HP:0001249|Mental retardation;HP:0001250|Seizures;HP:0003463|Increased extraneuronal autofluorescent lipopigment;HP:0000709|Psychosis;HP:0000726|Dementia;HP:0000550|Absent electroretinogram;HP:0003205|'curvilinear profiles' ultrastructurally;HP:0001922|Vacuolated blood lymphocytes;HP:0000510|Retinitis pigmentosa;HP:0002361|Psychomotor degeneration;HP:0000608|Macular degeneration;HP:0001260|Dysarthric speech
acyl-coa dehydrogenase, short-chain, deficiency of	HP:0000750|Late-onset speech development;HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0000544|CPEO;HP:0003198|Myopathic changes;HP:0002500|Leukoaraiosis;HP:0001371|Flexion contractures of joints;HP:0001263|Developmental retardation;HP:0003219|Ethylmalonic aciduria;HP:0001254|Lethargy;HP:0002650|Scoliosis;HP:0000709|Psychosis;HP:0001508|Weight faltering;HP:0004911|Episodic metabolic acidosis;HP:0010628|Facial palsy, unilateral or bilateral;HP:0001638|Cardiomyopathy;HP:0008872|Feeding difficulties in infancy
acrocapitofemoral dysplasia	HP:0002812|Coxa vara;HP:0002869|Flared iliac wings;HP:0002652|Skeletal dysplasia;HP:0000256|Macrocephaly;HP:0002970|Genu varum;HP:0002983|Micromelia;HP:0003300|Ovoid vertebral bodies;HP:0002750|Delayed skeletal maturation;HP:0002650|Scoliosis;HP:0003307|Hyperlordosis;HP:0004322|Short stature;HP:0003367|Abnormality of the femoral neck;HP:0006059|Cone-shaped metacarpal epiphyses;HP:0000774|Narrow chest;HP:0001821|Broad nail;HP:0004279|Short palm;HP:0010579|Cone-shaped epiphysis;HP:0000768|Pectus carinatum;HP:0000767|Pectus excavatum;HP:0010306|Short thorax;HP:0001792|Small nail
congenital nephrotic syndrome, finnish type	HP:0000100|Nephrotic syndrome;HP:0004639|Elevated amniotic fluid alpha-fetoprotein;HP:0000093|Proteinuria;HP:0000696|Delayed eruption of permanent teeth;HP:0000091|Abnormality of the renal tubule
diaphanospondylodysostosis	HP:0005562|Multiple renal cysts;HP:0000470|Short neck;HP:0000175|Cleft palate;HP:0004599|Absent or minimally ossified vertebral bodies;HP:0005640|Abnormal vertebral segmentation and fusion;HP:0000921|Missing ribs;HP:0003275|Narrow pelvis bone;HP:0002475|Myelomeningocele;HP:0100625|Enlarged thorax;HP:0002098|Respiratory distress;HP:0010306|Short thorax
congenital hydrocephalus	HP:0000238|Hydrocephalus
acquired ichthyosis	HP:0010783|Erythema;HP:0000962|Hyperkeratosis;HP:0002664|Neoplasm;HP:0000958|Dry skin;HP:0002665|Lymphoma;HP:0100326|Immunologic hypersensitivity;HP:0002960|Autoimmunity;HP:0100242|Sarcoma;HP:0000989|Pruritus;HP:0008064|Ichthyosis;HP:0200034|Papule;HP:0006775|Multiple myeloma;HP:0000982|Palmoplantar keratoderma;HP:0001581|Recurrent skin infections;HP:0000083|Renal insufficiency
neuronal intranuclear inclusion disease	HP:0000639|Nystagmus;HP:0002353|EEG abnormality;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0001276|Hypertonia;HP:0003312|Abnormal form of the vertebral bodies;HP:0001251|Ataxia;HP:0001347|Hyperreflexia;HP:0002650|Scoliosis;HP:0002167|Neurological speech impairment;HP:0003298|Spina bifida occulta;HP:0003457|EMG abnormality;HP:0100022|Abnormality of movement;HP:0000726|Dementia;HP:0000648|Optic atrophy;HP:0000600|Abnormality of the pharynx;HP:0000602|Ophthalmoplegia;HP:0001260|Dysarthria
congenital hydronephrosis	HP:0001626|Abnormality of the cardiovascular system;HP:0008676|Congenital megaureter;HP:0000079|Abnormality of the urinary system;HP:0000126|Hydronephrosis;HP:0001562|Oligohydramnios;HP:0001561|Polyhydramnios
tetraploidy	HP:0000322|Short philtrum;HP:0002916|Abnormality of chromosome segregation;HP:0004059|Radial club hand;HP:0000175|Cleft palate;HP:0000347|Micrognathia;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0008678|Renal hypoplasia/aplasia;HP:0100720|Hypoplasia of the ear cartilage;HP:0000126|Hydronephrosis;HP:0000444|Convex nasal ridge;HP:0000252|Microcephaly;HP:0004422|Biparietal narrowing;HP:0008056|Aplasia/Hypoplasia affecting the eye;HP:0010515|Aplasia/Hypoplasia of the thymus;HP:0001511|Intrauterine growth retardation;HP:0002308|Arnold-Chiari malformation;HP:0000384|Preauricular skin tag
oliver syndrome	HP:0001249|Mental retardation;HP:0001162|Postaxial polydactyly of fingers
diffuse cutaneous mastocytosis	HP:0001025|Urticaria;HP:0002239|Gastrointestinal hemorrhage;HP:0011971|Dermatographic urticaria;HP:0001909|Leukemia;HP:0200151|Cutaneous mastocytosis;HP:0100845|Anaphylactic shock;HP:0001019|Erythroderma;HP:0002615|Hypotension;HP:0001072|Thickened skin;HP:0001000|Abnormality of skin pigmentation;HP:0000989|Pruritus;HP:0002240|Hepatomegaly;HP:0008066|Abnormal blistering of the skin;HP:0002024|Malabsorption
pulmonary atresia with intact ventricular septum	HP:0004935|Pulmonary atresia;HP:0010954|Hypoplastic right heart syndrome
epidermolysis bullosa simplex with pyloric atresia	HP:0000096|Glomerulosclerosis;HP:0002015|Dysphagia;HP:0000490|Sunken eyes;HP:0001057|Aplasia cutis congenita;HP:0001376|Limitation of joint mobility;HP:0100806|Sepsis;HP:0001561|Hydramnios;HP:0000430|Nasal cartilage hypoplasia;HP:0000126|Hydronephrosis;HP:0200097|Oral mucosal blisters;HP:0002577|Abnormality of the stomach;HP:0010477|Aplasia of the bladder;HP:0001944|Dehydration;HP:0000070|Ureterocele;HP:0008066|Abnormal blistering of the skin;HP:0001903|Anemia;HP:0008066|Skin bullae;HP:0001622|Premature birth;HP:0001508|Failure to thrive;HP:0200041|Skin erosion;HP:0000110|Renal dysplasia;HP:0001371|Flexion contractures of joints;HP:0001030|Fragile skin;HP:0008551|Hypoplasia of the external ear;HP:0001561|Polyhydramnios
dk phocomelia syndrome	HP:0001873|Low platelet count;HP:0009829|Phocomelia;HP:0000119|Genitourinary abnormality;HP:0002084|Bifid skull
hemimelia	HP:0005772|Aplasia/Hypoplasia of the tibia;HP:0008873|Disproportionate short-limb short stature;HP:0000175|Cleft palate;HP:0002815|Abnormality of the knee;HP:0100335|Non-midline cleft lip;HP:0003028|Abnormality of the ankles
48,xxyy syndrome	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0000670|Carious teeth;HP:0001263|Global developmental delay;HP:0003043|Abnormality of the shoulder;HP:0000815|Hypergonadotropic hypogonadism;HP:0000682|Abnormality of dental enamel;HP:0000581|Blepharophimosis;HP:0000027|Azoospermia;HP:0002119|Ventriculomegaly;HP:0002019|Constipation;HP:0008734|Decreased testicular size;HP:0002099|Asthma;HP:0001260|Dysarthria;HP:0008736|Hypoplasia of penis;HP:0002205|Recurrent respiratory infections;HP:0000098|Tall stature;HP:0000582|Upslanted palpebral fissure;HP:0001251|Ataxia;HP:0002564|Malformation of the heart and great vessels;HP:0000276|Long face;HP:0000486|Strabismus;HP:0002167|Neurological speech impairment;HP:0000316|Hypertelorism;HP:0000733|Stereotypy;HP:0005692|Joint hyperflexibility;HP:0000684|Delayed eruption of teeth;HP:0000739|Anxiety;HP:0008872|Feeding difficulties in infancy;HP:0002020|Gastroesophageal reflux;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0000324|Facial asymmetry;HP:0000771|Gynecomastia;HP:0005978|Type II diabetes mellitus;HP:0002665|Lymphoma;HP:0005469|Flat occiput;HP:0012802|Broad jaw;HP:0002650|Scoliosis;HP:0003042|Elbow dislocation;HP:0000389|Chronic otitis media;HP:0000709|Psychosis;HP:0007018|Attention deficit hyperactivity disorder;HP:0004209|Clinodactyly of the 5th finger;HP:0000023|Inguinal hernia;HP:0001249|Intellectual disability;HP:0000679|Taurodontia;HP:0000717|Autism;HP:0002974|Radioulnar synostosis;HP:0001385|Hip dysplasia;HP:0001883|Talipes;HP:0000179|Thick lower lip vermilion;HP:0000789|Infertility;HP:0001513|Obesity;HP:0010807|Open bite;HP:0001337|Tremor;HP:0000716|Depression;HP:0001763|Pes planus;HP:0001252|Muscular hypotonia;HP:0002104|Apnea
digitotalar dysmorphism	HP:0003502|Mild short stature;HP:0000160|Narrow mouth;HP:0001883|Talipes;HP:0010557|Overlapping fingers;HP:0001387|Joint stiffness;HP:0003272|Abnormality of the hip bone;HP:0100490|Camptodactyly of finger;HP:0001181|Adducted thumb;HP:0001838|Rocker bottom foot;HP:0009465|Ulnar deviation of finger;HP:0009465|Medially deviated fingers
susac syndrome	HP:0000708|Behavioral abnormality;HP:0002321|Vertigo;HP:0000496|Abnormality of eye movement;HP:0001289|Confusion;HP:0100543|Cognitive impairment;HP:0000572|Visual loss;HP:0000741|Apathy;HP:0000709|Psychosis;HP:0002017|Nausea and vomiting;HP:0002066|Gait ataxia;HP:0001290|Generalized hypotonia;HP:0000651|Diplopia;HP:0000407|Sensorineural hearing impairment;HP:0000360|Tinnitus;HP:0001260|Dysarthria;HP:0000751|Personality changes
pineoblastoma	HP:0003470|Paralysis;HP:0000708|Behavioral abnormality;HP:0001085|Papilledema;HP:0001250|Seizures;HP:0007663|Reduced visual acuity;HP:0100576|Amaurosis fugax;HP:0000619|Impaired convergence;HP:0000763|Sensory neuropathy;HP:0009919|Retinoblastoma;HP:0100543|Cognitive impairment;HP:0001254|Lethargy;HP:0010799|Pinealoma;HP:0002516|Increased intracranial pressure;HP:0002354|Memory impairment;HP:0007987|Progressive visual field defects;HP:0004372|Reduced consciousness/confusion;HP:0007045|Midline brain calcifications;HP:0002315|Headache;HP:0002344|Progressive neurologic deterioration
myotonia fluctuans	HP:0012534|Dysesthesia;HP:0003326|Myalgia;HP:0002094|Dyspnea;HP:0000597|Ophthalmoparesis;HP:0001288|Gait disturbance;HP:0003236|Elevated serum creatine phosphokinase;HP:0001324|Muscle weakness;HP:0002015|Dysphagia;HP:0003457|EMG abnormality;HP:0003712|Skeletal muscle hypertrophy;HP:0100749|Chest pain;HP:0003394|Muscle cramps;HP:0003198|Myopathy;HP:0000643|Blepharospasm;HP:0002153|Hyperkalemia;HP:0100748|Muscular edema;HP:0002486|Myotonia;HP:0001276|Hypertonia
pleomorphic liposarcoma	HP:0001482|Subcutaneous nodule
carnitine palmitoyl transferase 1a deficiency	HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0002910|Elevated hepatic transaminases;HP:0004374|Hemiplegia/hemiparesis;HP:0001645|Sudden cardiac death;HP:0001399|Hepatic failure;HP:0012378|Fatigue;HP:0001259|Coma;HP:0001254|Lethargy;HP:0002167|Neurological speech impairment;HP:0007185|Loss of consciousness;HP:0011675|Arrhythmia;HP:0001943|Hypoglycemia;HP:0008279|Transient hyperlipidemia;HP:0001947|Renal tubular acidosis;HP:0001639|Hypertrophic cardiomyopathy;HP:0001252|Muscular hypotonia;HP:0001315|Reduced tendon reflexes;HP:0003202|Skeletal muscle atrophy;HP:0002240|Hepatomegaly;HP:0001939|Abnormality of metabolism/homeostasis
de sanctis-cacchione syndrome	HP:0004334|Atrophic skin;HP:0001268|Mental deterioration;HP:0001266|Choreoathetosis;HP:0000613|Extreme light sensitivity;HP:0002542|Olivopontocerebellar degeneration;HP:0001257|Spasticity;HP:0001029|Poikiloderma;HP:0001251|Ataxia;HP:0003079|Defective DNA repair after ultraviolet radiation damage;HP:0003510|Proportionate dwarfism;HP:0001249|Mental retardation;HP:0000992|Skin photosensitivity;HP:0000252|Small head circumference;HP:0000656|Ectropion;HP:0001265|Decreased tendon reflexes;HP:0001284|Areflexia;HP:0000491|Corneal inflammation;HP:0008639|Gonadal hypoplasia;HP:0000621|Eyelid turned in;HP:0001272|Cerebellar atrophy;HP:0000509|Conjunctivitis;HP:0000407|sensorineural hearing loss;HP:0001009|Telangiectases
huntington disease-like 2	HP:0002067|Bradykinesia;HP:0002063|Muscle rigidity;HP:0000738|Sensory hallucination;HP:0001347|Hyperreflexia;HP:0000741|Apathy;HP:0000746|Delusions;HP:0000716|Depression;HP:0001824|Weight loss;HP:0001332|Dystonia;HP:0000737|Irritability;HP:0000726|Dementia;HP:0002072|Chorea;HP:0001260|Dysarthric speech;HP:0000739|Anxiety;HP:0002345|Action tremor
acute adrenal insufficiency	HP:0001297|Stroke;HP:0012378|Fatigue;HP:0001278|Orthostatic hypotension;HP:0008226|Androgen insufficiency;HP:0001045|Vitiligo;HP:0030083|Salt craving;HP:0002019|Constipation;HP:0002027|Abdominal pain;HP:0001824|Weight loss;HP:0002960|Autoimmunity;HP:0000953|Hyperpigmentation of the skin;HP:0000848|Increased circulating renin level;HP:0000083|Renal insufficiency;HP:0002829|Arthralgia;HP:0002014|Diarrhea;HP:0002215|Sparse axillary hair;HP:0002902|Hyponatremia;HP:0002615|Hypotension;HP:0002017|Nausea and vomiting;HP:0001943|Hypoglycemia;HP:0003154|Increased circulating ACTH level;HP:0001250|Seizures;HP:0001658|Myocardial infarction;HP:0011106|Hypovolemia;HP:0011948|Acute respiratory tract infection;HP:0001897|Normocytic anemia;HP:0001508|Failure to thrive;HP:0002153|Hyperkalemia;HP:0000823|Delayed puberty;HP:0000835|Adrenal hypoplasia;HP:0002149|Hyperuricemia;HP:0005976|Hyperkalemic metabolic acidosis;HP:0003072|Hypercalcemia;HP:0002321|Vertigo;HP:0000127|Renal salt wasting;HP:0000958|Dry skin;HP:0012364|Decreased urinary potassium;HP:0001324|Muscle weakness;HP:0030018|Decreased female libido;HP:0008207|Primary adrenal insufficiency;HP:0008220|Hypocortisolemia;HP:0001252|Muscular hypotonia;HP:0002039|Anorexia;HP:0004319|Hypoaldosteronism
ehlers-danlos syndrome type 1	HP:0008947|Hypotonia early;HP:0000541|Retinal detachment;HP:0001654|Abnormality of the heart valves;HP:0000978|Bruising susceptibility;HP:0005100|Premature birth following premature rupture of fetal membranes;HP:0010485|Hyperextensibility at elbow;HP:0000592|Bluish sclerae;HP:0001373|Joint dislocation;HP:0010500|Hyperextensibility of the knee;HP:0001083|Dislocated lenses;HP:0000394|Lop ear;HP:0000010|Recurrent urinary tract infections;HP:0000767|Pectus excavatum;HP:0002586|Peritonitis;HP:0001724|Aortic dilatation;HP:0005222|Bowel diverticulosis;HP:0000963|Thin skin;HP:0000286|Palpebronasal fold;HP:0004322|Stature below 3rd percentile;HP:0001373|Joint dislocations;HP:0001075|Atrophic scars;HP:0001537|Umbilical hernia;HP:0005692|Joint hyperflexibility;HP:0000822|Hypertension;HP:0000015|Bladder diverticulum;HP:0002816|Genu recurvatum;HP:0000993|Molluscoid pseudotumor;HP:0000978|Bruisability;HP:0001058|Poor wound healing;HP:0025014|Subcutaneous spheroids;HP:0002020|Gastroesophageal reflux;HP:0001073|'cigarette paper scarring';HP:0002647|Aortic dissection;HP:0001822|Hallux valgus;HP:0006316|Variability of spacing between teeth;HP:0000545|Near sightedness;HP:0000163|Abnormality of the oral cavity;HP:0002650|Scoliosis;HP:0001537|Umbilical hernias;HP:0002758|Osteoarthritis;HP:0001187|Finger joint hyperextensibility;HP:0000023|Inguinal hernia;HP:0002616|Aortic root dilatation;HP:0001634|Mitral valve prolapse;HP:0004334|Dermal atrophy;HP:0000977|Soft skin;HP:0100541|Femoral hernia;HP:0001763|Pes planus;HP:0000974|Stretchable skin;HP:0002619|Varicose veins;HP:0001030|Fragile skin;HP:0100790|Hernia;HP:0002010|Transverse hypoplasia of maxilla;HP:0000768|Pectus carinatum;HP:0000776|Congenital diaphragmatic hernia
spinal arachnoiditis	HP:0000924|Abnormality of the skeletal system;HP:0001939|Laboratory abnormality;HP:0002313|Spastic paraparesis
bartsocas-papas syndrome	HP:0000160|Narrow mouth;HP:0000050|Hypoplastic male external genitalia;HP:0003196|Short nose;HP:0001770|Toe syndactyly;HP:0000625|Cleft eyelid;HP:0008678|Renal hypoplasia/aplasia;HP:0000347|Micrognathia;HP:0006101|Finger syndactyly;HP:0002564|Malformation of the heart and great vessels;HP:0007418|Alopecia totalis;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0000062|Ambiguous genitalia;HP:0010185|Aplasia/Hypoplasia of the distal phalanges of the toes;HP:0200102|Sparse or absent eyelashes;HP:0000175|Cleft palate;HP:0007957|Corneal opacity;HP:0000252|Microcephaly;HP:0001249|Intellectual disability;HP:0001800|Hypoplastic toenails;HP:0001883|Talipes;HP:0009777|Absent thumb;HP:0000161|Median cleft lip;HP:0009755|Ankyloblepharon;HP:0100240|Synostosis of joints;HP:0009756|Popliteal pterygium;HP:0000430|Underdeveloped nasal alae
encephalocraniocutaneous lipomatosis	HP:0001263|Global developmental delay;HP:0001274|Agenesis of corpus callosum;HP:0001650|Aortic valve stenosis;HP:0001012|Multiple lipomas;HP:0010622|Neoplasm of the skeletal system;HP:0000492|Abnormality of the eyelid;HP:0001704|Tricuspid valve prolapse;HP:0001331|Absent septum pellucidum;HP:0003552|Muscle stiffness;HP:0002119|Ventriculomegaly;HP:0000943|Dysostosis multiplex;HP:0001482|Subcutaneous nodule;HP:0000929|Abnormality of the skull;HP:0001269|Hemiparesis;HP:0002797|Osteolysis;HP:0001257|Spasticity;HP:0002652|Skeletal dysplasia;HP:0001680|Coarctation of aorta;HP:0002167|Neurological speech impairment;HP:0012157|Subcortical cerebral atrophy;HP:0002120|Cerebral cortical atrophy;HP:0009125|Lipodystrophy;HP:0011611|Interrupted aortic arch;HP:0005306|Capillary hemangiomas;HP:0001276|Hypertonia;HP:0000612|Iris coloboma;HP:0000271|Abnormality of the face;HP:0001052|Nevus flammeus;HP:0002763|Abnormal cartilage morphology;HP:0001250|Seizures;HP:0000708|Behavioral abnormality;HP:0002059|Cerebral atrophy;HP:0007957|Corneal opacity;HP:0003470|Paralysis;HP:0040188|Osteochondrosis;HP:0000256|Macrocephaly;HP:0002301|Hemiplegia;HP:0002445|Tetraplegia;HP:0002063|Rigidity;HP:0100761|Visceral angiomatosis;HP:0002514|Cerebral calcification;HP:0002300|Mutism;HP:0004493|Craniofacial hyperostosis;HP:0000991|Xanthomatosis;HP:0001679|Abnormality of the aorta;HP:0010529|Echolalia;HP:0001249|Intellectual disability;HP:0012062|Bone cyst;HP:0001596|Alopecia;HP:0012759|Neurodevelopmental abnormality;HP:0000488|Retinopathy;HP:0002357|Dysphasia;HP:0000499|Abnormality of the eyelashes;HP:0000614|Abnormality of the nasolacrimal system;HP:0002092|Pulmonary arterial hypertension;HP:0002381|Aphasia
normokalemic periodic paralysis	HP:0001939|Laboratory abnormality;HP:0000157|Abnormality of the tongue;HP:0003768|Periodic paralysis
thymic epithelial neoplasm	HP:0003473|Fatigable weakness;HP:0002093|Respiratory insufficiency;HP:0012378|Fatigue;HP:0100522|Thymoma;HP:0045026|Abnormality of the mediastinum;HP:0100749|Chest pain;HP:0001824|Weight loss;HP:0006597|Diaphragmatic paralysis;HP:0012735|Cough;HP:0000508|Ptosis;HP:0000969|Edema
brachydactyly type a2	HP:0009568|Aplasia/Hypoplasia of the middle phalanx of the 2nd finger;HP:0010038|Short 2nd metacarpal;HP:0009372|Type A2 brachydactyly;HP:0005819|Short middle phalanx of finger;HP:0004209|Clinodactyly of the 5th finger;HP:0004220|Short middle phalanx of the 5th finger;HP:0001773|Short foot
ehlers-danlos syndrome type 2	HP:0000541|Retinal detachment;HP:0000978|Bruising susceptibility;HP:0000974|Hyperextensible skin;HP:0000767|Pectus excavatum;HP:0000010|Recurrent urinary tract infections;HP:0002586|Peritonitis;HP:0001724|Aortic dilatation;HP:0000963|Thin skin;HP:0001537|Umbilical hernia;HP:0005692|Joint hyperflexibility;HP:0000822|Hypertension;HP:0000015|Bladder diverticulum;HP:0002647|Aortic dissection;HP:0002020|Gastroesophageal reflux;HP:0000163|Abnormality of the oral cavity;HP:0001073|Cigarette-paper scars;HP:0000023|Inguinal hernia;HP:0004334|Dermal atrophy;HP:0000977|Soft skin;HP:0100541|Femoral hernia;HP:0001763|Pes planus;HP:0002619|Varicose veins;HP:0100790|Hernia;HP:0000768|Pectus carinatum;HP:0000776|Congenital diaphragmatic hernia
nipples, supernumerary	HP:0000765|Abnormality of the thorax;HP:0000077|Renal anomaly;HP:0002558|accessory mamilla
pelviureteric junction obstruction	HP:0030157|Flank pain;HP:0000110|Renal dysplasia;HP:0000003|Multicystic kidney dysplasia;HP:0008663|Renal sarcoma;HP:0000126|Hydronephrosis;HP:0000072|Megaureter;HP:0000089|Small kidneys;HP:0008676|Congenital megaloureter;HP:0000100|Nephrosis;HP:0000800|Renal cystic dysplasia;HP:0000074|Ureteropelvic junction obstruction;HP:0000083|Renal insufficiency
phosphoserine aminotransferase deficiency	HP:0001250|Seizures;HP:0012277|Low blood glycine levels;HP:0005484|Acquired microcephaly;HP:0001263|Developmental retardation;HP:0012279|Low blood serine levels;HP:0001320|Hypoplasia of the cerebellar vermis;HP:0001276|Hypertonia;HP:0008872|Feeding difficulties in infancy
late-onset retinal degeneration	HP:0000572|Visual loss;HP:0000575|Scotoma;HP:0000510|Retinitis pigmentosa;HP:0007830|Adult-onset night blindness;HP:0000546|Retinal degeneration
arteriovenous malformations of the brain	HP:0002408|Cerebral arteriovenous malformation
heinz body anemia	HP:0001939|Laboratory abnormality;HP:0001930|Nonspherocytic hemolytic anemia;HP:0005511|Heinz body anemia
renal tubular dysgenesis	HP:0005562|Multiple renal cysts;HP:0000114|Proximal tubulopathy;HP:0007598|Bilateral single transverse palmar creases;HP:0002089|Pulmonary hypoplasia;HP:0000252|Microcephaly;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0001562|Oligohydramnios;HP:0000112|Nephropathy;HP:0001622|Premature birth;HP:0001636|Tetralogy of Fallot;HP:0008660|Renotubular dysgenesis;HP:0001561|Polyhydramnios
dystrophia myotonica 2	HP:0002850|Decreased IgM level;HP:0004315|IgG deficiency;HP:0001962|Palpitations;HP:0003701|Proximal limb muscle weakness;HP:0003236|Elevated creatine kinase;HP:0000798|Oligospermia;HP:0002292|Frontal balding;HP:0000819|Diabetes mellitus;HP:0003554|Type 2 fiber atrophy;HP:0008232|Elevated follicle-stimulating hormone;HP:0008189|Insulin insensitivity;HP:0007889|Iridescent posterior subcapsular cataract;HP:0001649|Tachycardia;HP:0002486|Myotonia;HP:0003722|Neck flexor muscle weakness;HP:0000135|Hypogonadism;HP:0003326|Muscle pain
pseudo-von willebrand disease	HP:0003010|Increased bleeding time;HP:0004854|Intermittent thrombocytopenia
adie pupil	HP:0012074|Adie pupil;HP:0001265|Decreased tendon reflexes
humero-radial synostosis	HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0000567|Chorioretinal coloboma;HP:0008368|Tarsal synostosis;HP:0003070|Elbow ankylosis;HP:0000252|Microcephaly;HP:0003019|Abnormality of the wrist;HP:0003042|Elbow dislocation;HP:0008056|Aplasia/Hypoplasia affecting the eye;HP:0003041|Humeral radial synostosis;HP:0002435|Meningocele;HP:0001376|Limitation of joint mobility;HP:0000612|Iris coloboma
benign epilepsy with centrotemporal spikes	HP:0007359|Partial seizures;HP:0007334|Partial seizures with secondary generalization;HP:0012557|EEG with centrotemporal focal spike waves
ocular cicatricial pemphigoid	HP:0000478|Abnormal eye
x-linked recessive ocular albinism	HP:0000639|Nystagmus;HP:0005592|Giant melanosomes in melanocytes;HP:0001103|Abnormality of the macula;HP:0000505|Poor vision;HP:0000615|Abnormality of the pupil;HP:0000505|Visual impairment;HP:0001107|Ocular albinism;HP:0001107|Albinism, Ocular;HP:0001480|Freckling;HP:0000486|Strabismus;HP:0000545|Myopia;HP:0000613|Photophobia;HP:0007730|Iris hypopigmentation;HP:0000483|Astigmatism;HP:0000613|Extreme light sensitivity;HP:0007680|Depigmented fundus;HP:0008069|Neoplasm of the skin;HP:0001361|Nystagmus-induced head nodding;HP:0007750|Hypoplasia of the fovea
madelung disease	HP:0009830|Peripheral neuritis;HP:0012032|Lipoma;HP:0000951|dermatopathy
c2 deficiency	HP:0002725|Systemic lupus erythematosus;HP:0000979|Purpura
anonychia congenita	HP:0001798|Anonychia
kleine-levin hibernation syndrome	HP:0002591|Voracious appetite;HP:0001289|Confusion;HP:0006803|Vivid hallucinations;HP:0007200|Episodic hypersomnia
bowen hutterite syndrome	HP:0000448|Big nose;HP:0000252|Small head circumference;HP:0004209|Clinodactyly of fifth digit;HP:0001518|Small for gestational age;HP:0000347|Hypoplasia of mandible;HP:0001838|Rocker bottom foot;HP:0001367|Anomaly of the joints
alymphoid cystic thymic dysgenesis	HP:0001596|Hair loss;HP:0002721|Immunodeficiency;HP:0001807|Grooved nails;HP:0008165|Reduced circulating T-helper cells;HP:0005352|Severe T-cell immunodeficiency;HP:0001803|Nail pits;HP:0008404|Dystrophic nails;HP:0005597|Congenital alopecia totalis;HP:0005403|Decrease in T cell count;HP:0001803|Pitted nails;HP:0001807|Ridged nail
juvenile amyotrophic lateral sclerosis	HP:0001257|Spasticity;HP:0003199|Decreased muscle mass;HP:0001288|Gait disturbance;HP:0000763|Sensory neuropathy;HP:0000014|Abnormality of the bladder;HP:0002127|Abnormal upper motor neuron morphology;HP:0001347|Hyperreflexia;HP:0002193|Pseudobulbar behavioral symptoms;HP:0003457|EMG abnormality;HP:0007256|Abnormal pyramidal signs;HP:0007354|Amyotrophic lateral sclerosis;HP:0001260|Dysarthria
benign adult familial myoclonic epilepsy	HP:0002353|EEG abnormality;HP:0007359|Focal seizures;HP:0100576|Amaurosis fugax;HP:0001336|Myoclonus;HP:0002378|Hand tremor;HP:0001249|Intellectual disability;HP:0002315|Headache;HP:0002197|Generalized seizures
familial thrombocytosis	HP:0005296|Occlusive vascular disease;HP:0001824|Weight loss;HP:0002637|Cerebral ischemia;HP:0001260|Dysarthria;HP:0003401|Paresthesia;HP:0001894|Thrombocytosis;HP:0001250|Seizures;HP:0000975|Hyperhidrosis;HP:0004936|Venous thrombosis;HP:0005268|Spontaneous abortion;HP:0001279|Syncope;HP:0005506|Chronic myelogenous leukemia;HP:0004808|Acute myeloid leukemia;HP:0001892|Abnormal bleeding;HP:0001744|Splenomegaly;HP:0002321|Vertigo;HP:0001123|Visual field defect;HP:0002326|Transient ischemic attack;HP:0002863|Myelodysplasia;HP:0100749|Chest pain;HP:0004420|Arterial thrombosis;HP:0000989|Pruritus;HP:0002092|Pulmonary arterial hypertension;HP:0002315|Headache
12q14 microdeletion syndrome	HP:0001263|Global developmental delay;HP:0004322|Short stature;HP:0001482|Subcutaneous nodule;HP:0010739|Osteopoikilosis;HP:0000233|Thin vermilion border;HP:0000953|Hyperpigmentation of the skin;HP:0000445|Wide nose;HP:0000750|Delayed speech and language development;HP:0000086|Ectopic kidney;HP:0000490|Deeply set eye;HP:0000347|Micrognathia;HP:0002007|Frontal bossing;HP:0003396|Syringomyelia;HP:0000316|Hypertelorism;HP:0000668|Hypodontia;HP:0000574|Thick eyebrow;HP:0001511|Intrauterine growth retardation;HP:0002308|Arnold-Chiari malformation;HP:0002714|Downturned corners of mouth;HP:0001249|Mental retardation;HP:0001256|Intellectual disability, mild;HP:0003508|Short stature, proportionate;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0000664|Synophrys;HP:0000089|Renal hypoplasia;HP:0001508|Failure to thrive;HP:0004209|Clinodactyly of the 5th finger;HP:0000085|Horseshoe kidney;HP:0000426|Prominent nasal bridge;HP:0005288|Abnormality of the nares;HP:0001337|Tremor;HP:0000819|Diabetes mellitus;HP:0002566|Intestinal malrotation;HP:0000325|Triangular face;HP:0001328|Specific learning disability;HP:0001252|Muscular hypotonia;HP:0001743|Abnormality of the spleen;HP:0003202|Skeletal muscle atrophy
16p13.11 microdeletion syndrome	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0001274|Agenesis of corpus callosum;HP:0010864|Intellectual disability, severe;HP:0100716|Self-injurious behavior;HP:0009914|Cyclopia;HP:0003196|Short nose;HP:0004322|Short stature;HP:0001629|Ventricular septal defect;HP:0000722|Obsessive-compulsive behavior;HP:0002119|Ventriculomegaly;HP:0001360|Holoprosencephaly;HP:0005280|Depressed nasal bridge;HP:0000767|Pectus excavatum;HP:0001631|Atrial septal defect;HP:0000750|Delayed speech and language development;HP:0002269|Abnormality of neuronal migration;HP:0000154|Wide mouth;HP:0000369|Low-set ears;HP:0001762|Talipes equinovarus;HP:0000204|Cleft upper lip;HP:0000407|Sensorineural hearing impairment;HP:0001276|Hypertonia;HP:0000384|Preauricular skin tag;HP:0011968|Feeding difficulties;HP:0000494|Downslanted palpebral fissures;HP:0000413|Atresia of the external auditory canal;HP:0002020|Gastroesophageal reflux;HP:0002353|EEG abnormality;HP:0000175|Cleft palate;HP:0002263|Exaggerated cupid's bow;HP:0010508|Metatarsus valgus;HP:0000252|Microcephaly;HP:0000319|Smooth philtrum;HP:0000219|Thin upper lip vermilion;HP:0100753|Schizophrenia;HP:0000463|Anteverted nares;HP:0001328|Specific learning disability;HP:0100490|Camptodactyly of finger;HP:0002197|Generalized seizures
glomuvenous malformation	HP:0001939|Laboratory abnormality;HP:0000951|dermatopathy
epidermolysis bullosa simplex with circinate migratory erythema	HP:0000988|Skin rash;HP:0010783|Erythema;HP:0001000|Abnormality of skin pigmentation;HP:0200037|Skin vesicle
autosomal dominant centronuclear myopathy	HP:0003701|Proximal limb muscle weakness;HP:0000544|CPEO;HP:0001371|Flexion contractures of joints;HP:0003388|Easy fatigability;HP:0001284|Areflexia;HP:0003712|Hypertrophic muscles;HP:0000508|Drooping upper eyelid;HP:0001270|Motor retardation;HP:0005335|Somnolent facial expression;HP:0010628|Facial palsy, unilateral or bilateral;HP:0003687|Central nuclei
waardenburg syndrome type 4	HP:0001252|Hypotonia;HP:0000639|Nystagmus;HP:0002211|Poliosis of forelock hair;HP:0000635|Blue irides;HP:0002415|Degeneration of white matter of brain;HP:0001251|Ataxia;HP:0001263|Developmental retardation;HP:0001271|Polyneuropathy;HP:0002226|Pale eyebrow;HP:0001053|Hypopigmented skin patches;HP:0000407|sensorineural hearing loss;HP:0002271|Autonomic dysregulation;HP:0001100|Heterochromia irides;HP:0002227|Pale eyelashes;HP:0002313|Spastic paraparesis;HP:0002251|Hirschsprung megacolon;HP:0002216|Premature hair graying
pyropoikilocytosis	HP:0004445|Elliptocytosis;HP:0001878|Haemolytic anaemia;HP:0004839|hereditary pyropoikilocytosis;HP:0004835|Microspherocytosis
epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	HP:0003071|Flattened epiphysis;HP:0002240|Enlarged liver;HP:0002654|Multiple epiphyseal dysplasia;HP:0004467|Pit in front of the ear;HP:0010230|Cone-shaped epiphyses of the phalanges of the hand;HP:0000316|Increased distance between eye sockets;HP:0002868|Narrow iliac wings;HP:0004236|Irregular carpal bones;HP:0000083|Renal insufficiency;HP:0004322|Stature below 3rd percentile;HP:0006274|Reduced pancreatic beta cells;HP:0003307|Hyperlordosis;HP:0010585|Small end part of bone;HP:0002656|Epiphyseal dysplasia;HP:0001276|Hypertonia;HP:0008134|Irregular tarsal centers;HP:0100651|Type I diabetes mellitus;HP:0000252|Small head circumference;HP:0001263|Developmental retardation;HP:0000218|Increased palatal height;HP:0005280|Flat, nasal bridge;HP:0003311|Odontoid hypoplasia;HP:0000939|Osteoporosis;HP:0000582|Upward slanting of palpebral fissures;HP:0010234|Ivory epiphyses of the phalanges of the hand;HP:0002857|Genu valgum;HP:0030043|Partial hip dislocation;HP:0000926|Flattened vertebral bodies;HP:0001498|Hypoplastic carpal bones;HP:0003301|vertebral endplate irregularity;HP:0006110|Shortened middle finger bones;HP:0001552|Barrel chest;HP:0002827|Hip dislocation;HP:0010168|Increased bone density of end part of the toes;HP:0000831|Insulin-resistant diabetes mellitus;HP:0002673|Coxa valga
anemia, sideroblastic, and spinocerebellar ataxia	HP:0001310|Dysmetria;HP:0002080|Intention tremor;HP:0001939|Laboratory abnormality;HP:0002075|Dysdiadochokinesis;HP:0002169|Clonus;HP:0002470|Nonprogressive cerebellar ataxia;HP:0001924|Hypersideremic anemia;HP:0003487|Extensor plantar reflexes;HP:0004840|Hypochromic microcytic anemia;HP:0001260|Dysarthric speech
arthropathy, progressive pseudorheumatoid, of childhood	HP:0003071|Flattened epiphysis;HP:0003371|Enlarged capital femoral epiphyses;HP:0001760|Foot deformities;HP:0002355|Difficulty walking;HP:0001387|Stiff joints;HP:0004637|Decreased cervical spine mobility;HP:0006247|Enlarged interphalangeal joints;HP:0002970|Genu varum;HP:0010580|Large epiphyses;HP:0003016|Wide metaphyses;HP:0002751|Kyphoscoliosis;HP:0006163|Enlarged metacarpophalangeal joints;HP:0001386|Joint swelling;HP:0000939|Osteoporosis;HP:0002758|Osteoarthritis;HP:0001324|Muscular weakness;HP:0003040|Arthropathy;HP:0004576|Large joint contractures;HP:0000926|Flattened vertebral bodies;HP:0002515|Waddling gait;HP:0002812|Coxa vara;HP:0100490|Camptodactyly of finger
vitreoretinopathy, neovascular inflammatory	HP:0000541|Detached retina;HP:0030667|Peripheral retinal neovascularization;HP:0000618|Blindness;HP:0000554|Uveitis;HP:0007902|Vitreous hemorrhage;HP:0007658|Large hyperpigmented retinal spots;HP:0007773|Vitreoretinopathy;HP:0007778|Posterior retinal neovascularisation;HP:0000512|ERG abnormal
mast syndrome	HP:0001317|Abnormality of the cerebellum;HP:0002015|Swallowing difficulty;HP:0002186|Apraxia;HP:0001288|Gait disturbance;HP:0012672|Akinetic mutism;HP:0001347|Hyperreflexia;HP:0001258|Spastic paraplegia, lower limb;HP:0007340|Lower limb weakness;HP:0003487|Extensor plantar reflexes;HP:0002313|Spastic paraparesis;HP:0009830|Peripheral neuritis;HP:0000726|Dementia;HP:0002476|Primitive reflex;HP:0001260|Dysarthric speech;HP:0001270|Motor retardation
epidermolysis bullosa simplex, ogna type	HP:0001805|Thick nail;HP:0008401|Overgrowth and curving of toenails;HP:0000978|Bruising susceptibility;HP:0200041|Skin erosion;HP:0008066|Abnormal blistering of the skin;HP:0007585|Skin fragility with non-scarring blistering;HP:0000978|Bruisability
folate malabsorption, hereditary	HP:0001252|Hypotonia;HP:0001882|Decreased blood leukocyte number;HP:0001250|Seizures;HP:0100660|Dyskinesis;HP:0002135|Basal ganglia calcification;HP:0001251|Ataxia;HP:0001263|Developmental retardation;HP:0008872|Feeding difficulties in infancy;HP:0002014|Diarrhea;HP:0000155|Oral ulcer;HP:0002719|infections, recurrent;HP:0000737|Irritability;HP:0001508|Weight faltering;HP:0002024|Intestinal malabsorption;HP:0009830|Peripheral neuritis;HP:0001875|Neutropenia;HP:0001873|Low platelet count;HP:0001249|Mental retardation;HP:0002305|Involuntary writhing movements;HP:0004851|Folate-responsive megaloblastic anemia
hypoalphalipoproteinemia, primary	HP:0003233|Low HDL-cholesterol
gaze palsy, familial horizontal, with progressive scoliosis	HP:0007650|Progressive ophthalmoplegia;HP:0007817|Horizontal supranuclear gaze palsy;HP:0002944|Thoracolumbar scoliosis
short rib-polydactyly syndrome, verma-naumoff type	HP:0008873|Disproportionate short-limb short stature;HP:0000028|Cryptorchidism;HP:0001274|Agenesis of corpus callosum;HP:0004397|Ectopic anus;HP:0002089|Pulmonary hypoplasia;HP:0008716|Urethrovaginal fistula;HP:0002023|Anal atresia;HP:0000518|Cataract;HP:0004599|Absent or minimally ossified vertebral bodies;HP:0002119|Ventriculomegaly;HP:0001321|Cerebellar hypoplasia;HP:0002032|Esophageal atresia;HP:0005280|Depressed nasal bridge;HP:0000445|Wide nose;HP:0010306|Short thorax;HP:0008736|Hypoplasia of penis;HP:0001789|Hydrops fetalis;HP:0000773|Short ribs;HP:0000347|Micrognathia;HP:0002007|Frontal bossing;HP:0000126|Hydronephrosis;HP:0002564|Malformation of the heart and great vessels;HP:0000107|Renal cyst;HP:0000343|Long philtrum;HP:0000204|Cleft upper lip;HP:0001162|Postaxial hand polydactyly;HP:0010297|Bifid tongue;HP:0000774|Narrow chest;HP:0004279|Short palm;HP:0000062|Ambiguous genitalia;HP:0001773|Short foot;HP:0002006|Facial cleft;HP:0002612|Congenital hepatic fibrosis;HP:0000286|Epicanthus;HP:0001177|Preaxial hand polydactyly;HP:0002093|Respiratory insufficiency;HP:0000256|Macrocephaly;HP:0010564|Bifid epiglottis;HP:0001539|Omphalocele;HP:0003762|Uterus didelphys;HP:0000089|Renal hypoplasia;HP:0001305|Dandy-Walker malformation;HP:0003270|Abdominal distention;HP:0009106|Abnormal pelvis bone ossification;HP:0005716|Lethal skeletal dysplasia;HP:0000944|Abnormality of the metaphyses;HP:0002983|Micromelia
hyperbilirubinemia, rotor type	HP:0000924|Abnormality of the skeletal system;HP:0002908|Conjugated hyperbilirubinemia;HP:0000952|Yellow skin;HP:0001000|Pigmentary changes
idiopathic hypercalciuria	HP:0002150|Hypercalciuria;HP:0012637|Renal calcium wasting;HP:0000938|Osteopenia;HP:0040077|Abnormal concentration of calcium in blood;HP:0000939|Osteoporosis;HP:0008672|Calcium oxalate nephrolithiasis;HP:0003529|Parathormone-independent increased renal tubular calcium reabsorption
reynolds syndrome	HP:0012378|Fatigue;HP:0002015|Dysphagia;HP:0100585|Telangiectasia of the skin;HP:0100579|Mucosal telangiectasiae;HP:0002383|Encephalitis;HP:0000217|Xerostomia;HP:0004295|Abnormality of the gastric mucosa;HP:0003326|Myalgia;HP:0011354|Generalized abnormality of skin;HP:0200042|Skin ulcer;HP:0000952|Jaundice;HP:0100725|Lichenification;HP:0001541|Ascites;HP:0002020|Gastroesophageal reflux;HP:0002093|Respiratory insufficiency;HP:0007400|Irregular hyperpigmentation;HP:0001945|Fever;HP:0011838|Sclerodactyly;HP:0002240|Hepatomegaly;HP:0000988|Skin rash;HP:0001394|Cirrhosis;HP:0001097|Keratoconjunctivitis sicca;HP:0001369|Arthritis;HP:0000989|Pruritus
pemphigus erythematosus	HP:0200037|Skin vesicle;HP:0008066|Abnormal blistering of the skin;HP:0000989|Pruritus;HP:0007473|Crusting erythematous dermatitis;HP:0100792|Acantholysis
leydig cell hypoplasia	HP:0000028|Cryptorchidism;HP:0000811|Abnormal external genitalia;HP:0000786|Primary amenorrhea;HP:0000037|Male pseudohermaphroditism;HP:0000815|Hypergonadotropic hypogonadism;HP:0040171|Decreased serum testosterone level;HP:0000030|Testicular gonadoblastoma;HP:0000869|Secondary amenorrhea;HP:0000047|Hypospadias;HP:0000151|Aplasia of the uterus;HP:0000837|Increased circulating gonadotropin level;HP:0000134|Female hypogonadism;HP:0000118|Phenotypic abnormality;HP:0000812|Abnormal internal genitalia;HP:0000062|Ambiguous genitalia;HP:0000026|Male hypogonadism;HP:0008187|Absence of secondary sex characteristics;HP:0010790|Hyoplasia of the Leydig cells;HP:0100783|Breast aplasia;HP:0002750|Delayed skeletal maturation;HP:0008193|Primary gonadal insufficiency;HP:0000054|Micropenis;HP:0012872|Abnormal vas deferens morphology
benign familial infantile epilepsy	HP:0001250|Seizures;HP:0000490|Deeply set eye;HP:0012534|Dysesthesia;HP:0000504|Abnormality of vision;HP:0001336|Myoclonus;HP:0012378|Fatigue;HP:0002357|Dysphasia;HP:0100022|Abnormality of movement;HP:0100660|Dyskinesia;HP:0000738|Hallucinations;HP:0002017|Nausea and vomiting;HP:0001266|Choreoathetosis;HP:0002354|Memory impairment;HP:0004372|Reduced consciousness/confusion;HP:0001252|Muscular hypotonia;HP:0002076|Migraine;HP:0001276|Hypertonia;HP:0000478|Abnormality of the eye
adult pulmonary langerhans cell histiocytosis	HP:0001182|Tapered finger;HP:0002793|Abnormal pattern of respiration;HP:0012735|Cough;HP:0002094|Dyspnea;HP:0100749|Chest pain
rombo syndrome	HP:0000499|Abnormality of the eyelashes;HP:0007380|Facial telangiectatic vessels;HP:0000534|Abnormality of the eyebrow;HP:0002671|Basalioma
drug-induced autoimmune hemolytic anemia	HP:0001635|Congestive heart failure;HP:0003573|Increased total bilirubin;HP:0001744|Splenomegaly;HP:0012086|Abnormal urinary color;HP:0002875|Exertional dyspnea;HP:0001324|Muscle weakness;HP:0012378|Fatigue;HP:0001890|Autoimmune hemolytic anemia;HP:0001649|Tachycardia;HP:0000980|Pallor;HP:0002315|Headache
pacman dysplasia	HP:0010655|Stippled epiphyses;HP:0002970|Genu varum;HP:0001939|Laboratory abnormality;HP:0006487|Bowing of the long bones;HP:0010655|Epiphyseal stippling;HP:0011849|Abnormal bone ossification;HP:0001643|Patent ductus arteriosus;HP:0000601|Hypotelorism;HP:0002648|Abnormality of calvarial morphology;HP:0005716|Lethal skeletal dysplasia;HP:0100670|Rough bone trabeculation;HP:0003417|Coronal cleft vertebrae;HP:0006487|Camptomelia
otofaciocervical syndrome	HP:0001263|Global developmental delay;HP:0003691|Scapular winging;HP:0004467|Pit in front of the ear;HP:0004322|Short stature;HP:0000218|High palate;HP:0005280|Depressed nasal bridge;HP:0007477|Abnormal dermatoglyphics;HP:0003691|Scapula alata;HP:0008678|Renal hypoplasia/aplasia;HP:0000472|Increased cervical length;HP:0000276|Long face;HP:0002167|Neurological speech impairment;HP:0004467|Preauricular pit;HP:0001276|Hypertonia;HP:0000413|Atresia of the external auditory canal;HP:0000889|Abnormality of the clavicle;HP:0000324|Facial asymmetry;HP:0009738|Abnormality of the antihelix;HP:0000293|Full cheeks;HP:0200021|Down-sloping shoulders;HP:0000405|Conductive hearing impairment;HP:0001249|Intellectual disability;HP:0000411|Protruding ear;HP:0000405|Conductive hearing loss;HP:0200021|Rounded shoulders;HP:0001347|Hyperreflexia;HP:0000463|Anteverted nares;HP:0002750|Delayed skeletal maturation;HP:0000400|Macrotia;HP:0001256|Mild mental retardation;HP:0000460|Decreased nasal breadth
morning glory syndrome	HP:0000639|Nystagmus;HP:0000588|Optic nerve coloboma;HP:0000518|Cataract;HP:0000646|Amblyopia;HP:0000486|Strabismus;HP:0000541|Retinal detachment;HP:0007703|Abnormality of retinal pigmentation
sternal cleft	HP:0000464|Abnormality of the neck;HP:0000504|Abnormality of vision;HP:0000478|Abnormality of the eye;HP:0000465|Webbed neck
15q24 microdeletion syndrome	HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0000160|Narrow mouth;HP:0011100|Intestinal atresia;HP:0000568|Microphthalmia;HP:0100874|Thick hair;HP:0002553|Highly arched eyebrow;HP:0000535|Sparse eyebrow;HP:0003196|Short nose;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0001770|Toe syndactyly;HP:0000776|Congenital diaphragmatic hernia;HP:0000218|High palate;HP:0000135|Hypogonadism;HP:0000047|Hypospadias;HP:0000490|Deeply set eye;HP:0007598|Bilateral single transverse palmar creases;HP:0009890|High anterior hairline;HP:0000276|Long face;HP:0000486|Strabismus;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0001852|Sandal gap;HP:0001511|Intrauterine growth retardation;HP:0004279|Short palm;HP:0001869|Deep plantar creases;HP:0001609|Hoarse voice;HP:0001510|Growth delay;HP:0000494|Downslanted palpebral fissures;HP:0009778|Short thumb;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000324|Facial asymmetry;HP:0000275|Narrow face;HP:0000252|Microcephaly;HP:0002650|Scoliosis;HP:0000319|Smooth philtrum;HP:0001863|Toe clinodactyly;HP:0011302|Long palm;HP:0009623|Proximal placement of thumb;HP:0007018|Attention deficit hyperactivity disorder;HP:0009928|Thick nasal alae;HP:0000431|Wide nasal bridge;HP:0000023|Inguinal hernia;HP:0200055|Small hand;HP:0001761|Pes cavus;HP:0001249|Intellectual disability;HP:0000426|Prominent nasal bridge;HP:0000179|Thick lower lip vermilion;HP:0002721|Immunodeficiency;HP:0009618|Abnormality of the proximal phalanx of the thumb;HP:0000400|Macrotia;HP:0100490|Camptodactyly of finger;HP:0100785|Insomnia;HP:0012639|Abnormality of nervous system morphology;HP:0000378|Cupped ear;HP:0001611|Nasal speech;HP:0000430|Underdeveloped nasal alae
camptobrachydactyly	HP:0001153|Septate vagina;HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0001159|Webbed fingers or toes;HP:0001800|Hypoplastic toenails;HP:0001161|Polydactyly of the hand;HP:0001153|Double vagina;HP:0006101|Finger syndactyly;HP:0001831|Short toes;HP:0005879|Congenital finger flexion contractures;HP:0001770|Toe syndactyly;HP:0100490|Camptodactyly of finger;HP:0009465|Ulnar deviation of finger;HP:0000020|Bladder incontinence;HP:0001231|Abnormality of the fingernails;HP:0001156|Brachydactyly;HP:0001156|Brachydactyly syndrome
say syndrome	HP:0004322|Stature below 3rd percentile;HP:0000252|Small head circumference;HP:0000400|Large ears;HP:0009463|Ulnar deviation of the 3rd finger;HP:0000347|Hypoplasia of mandible;HP:0000951|dermatopathy;HP:0001182|Tapered finger;HP:0009882|Hypoplastic terminal phalanges;HP:0000800|Renal cystic dysplasia;HP:0002049|Proximal renal tubular acidosis;HP:0000175|Palatoschisis
satoyoshi syndrome	HP:0004322|Short stature;HP:0005930|Abnormality of epiphysis morphology;HP:0002970|Genu varum;HP:0000130|Abnormality of the uterus;HP:0003063|Abnormality of the humerus;HP:0003307|Hyperlordosis;HP:0003019|Abnormality of the wrist;HP:0011964|Intermittent painful muscle spasms;HP:0002823|Abnormality of the femur;HP:0009806|Nephrogenic diabetes insipidus;HP:0000013|Hypoplasia of the uterus;HP:0000924|Abnormality of the skeletal system;HP:0000252|Microcephaly;HP:0001367|Abnormal joint morphology;HP:0001182|Tapered finger;HP:0003272|Abnormality of the hip bone;HP:0001595|Abnormality of the hair;HP:0002815|Abnormality of the knee;HP:0008724|Hypoplasia of the ovary;HP:0000137|Abnormality of the ovary;HP:0000141|Amenorrhea;HP:0002289|Alopecia universalis;HP:0000944|Abnormality of the metaphyses;HP:0200102|Sparse or absent eyelashes
focal myositis	HP:0003326|Myalgia;HP:0003236|Elevated serum creatine phosphokinase;HP:0001324|Muscle weakness;HP:0001824|Weight loss;HP:0001945|Fever;HP:0001376|Limitation of joint mobility;HP:0100614|Myositis
peroxisomal acyl-coa oxidase deficiency	HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0010864|Intellectual disability, severe;HP:0000545|Myopia;HP:0002376|Developmental regression;HP:0005280|Depressed nasal bridge;HP:0000512|Abnormal electroretinogram;HP:0000369|Low-set ears;HP:0000486|Strabismus;HP:0002167|Neurological speech impairment;HP:0000316|Hypertelorism;HP:0000668|Hypodontia;HP:0001522|Death in infancy;HP:0000407|Sensorineural hearing impairment;HP:0001276|Hypertonia;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0001288|Gait disturbance;HP:0002093|Respiratory insufficiency;HP:0001508|Failure to thrive;HP:0000648|Optic atrophy;HP:0002240|Hepatomegaly;HP:0001939|Abnormality of metabolism/homeostasis;HP:0001347|Hyperreflexia;HP:0000649|Abnormality of visual evoked potentials;HP:0001161|Hand polydactyly;HP:0001252|Muscular hypotonia;HP:0012639|Abnormality of nervous system morphology
ruvalcaba syndrome	HP:0000028|Cryptorchidism;HP:0010049|Metacarpal hypoplasia;HP:0000160|Narrow mouth;HP:0001263|Global developmental delay;HP:0100734|Abnormality of vertebral epiphysis morphology;HP:0003196|Short nose;HP:0000823|Pubertal delay;HP:0000233|Thin vermilion border;HP:0000678|Dental crowding;HP:0000508|Ptosis;HP:0000430|Nasal cartilage hypoplasia;HP:0000769|Abnormality of the breast;HP:0000512|Abnormal electroretinogram;HP:0001156|Brachydactyly syndrome;HP:0004322|Stature below 3rd percentile;HP:0002808|Gibbus deformity;HP:0001053|Hypopigmented skin patches;HP:0004279|Hypoplastic hands;HP:0000774|Narrow chest;HP:0001511|Intrauterine growth retardation;HP:0000790|Hematuria;HP:0001377|Restricted elbow extension;HP:0001249|Mental retardation;HP:0010049|Short metacarpal;HP:0000494|Downslanted palpebral fissures;HP:0001250|Seizures;HP:0000252|Small head circumference;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0000774|Low chest circumference;HP:0002808|Kyphosis;HP:0009623|Proximal placement of thumb;HP:0002230|Generalized hirsutism;HP:0000823|Delayed puberty;HP:0004209|Clinodactyly of the 5th finger;HP:0000023|Inguinal hernia;HP:0200055|Small hand;HP:0009811|Abnormality of the elbow;HP:0001249|Intellectual disability;HP:0000556|Retinal dystrophy;HP:0009803|Hypoplastic/small phalanges of the hand;HP:0010743|Shortened metatarsals;HP:0000348|High forehead;HP:0005048|Synostosis of carpal bones;HP:0100542|Abnormal localization of kidney;HP:0000444|Convex nasal ridge;HP:0001773|Small feet;HP:0000494|Downward slanting palpebral fissures;HP:0000649|Abnormality of visual evoked potentials;HP:0010579|Cone-shaped epiphysis;HP:0000460|Decreased nasal breadth;HP:0000768|Pectus carinatum;HP:0002983|Micromelia
osteomesopyknosis	HP:0003312|Abnormal form of the vertebral bodies;HP:0000789|Infertility;HP:0011001|Increased bone mineral density;HP:0100861|Vertebral body sclerosis;HP:0002650|Scoliosis;HP:0003419|Low back pain;HP:0003103|Abnormal cortical bone morphology;HP:0002808|Kyphosis;HP:0001939|Abnormality of metabolism/homeostasis
silent sinus syndrome	HP:0000504|Abnormality of vision;HP:0000490|Deeply set eye;HP:0000478|Abnormality of the eye
radiation proctitis	HP:0002034|Abnormality of the rectum;HP:0012089|Arteritis;HP:0003549|Abnormality of connective tissue;HP:0100806|Sepsis;HP:0100590|Rectal fistula;HP:0025015|Abnormal vascular morphology;HP:0002014|Diarrhea;HP:0012702|Tenesmus;HP:0002597|Abnormality of the vasculature;HP:0005224|Rectal abscess;HP:0002573|Hematochezia;HP:0004296|Abnormality of gastrointestinal vasculature;HP:0005214|Intestinal obstruction
familial visceral myopathy	HP:0000843|Hyperparathyroidism;HP:0000072|Hydroureter;HP:0001166|Arachnodactyly;HP:0002251|Aganglionic megacolon;HP:0000337|Broad forehead;HP:0000347|Micrognathia;HP:0001537|Umbilical hernia;HP:0002564|Malformation of the heart and great vessels;HP:0001798|Anonychia;HP:0010318|Aplasia/Hypoplasia of the abdominal wall musculature;HP:0000774|Narrow chest;HP:0000076|Vesicoureteral reflux;HP:0000021|Megacystis;HP:0000175|Cleft palate;HP:0003363|Abdominal situs inversus;HP:0000252|Microcephaly;HP:0000311|Round face;HP:0003270|Abdominal distention;HP:0000426|Prominent nasal bridge;HP:0001387|Joint stiffness;HP:0000463|Anteverted nares;HP:0100490|Camptodactyly of finger;HP:0000368|Low-set, posteriorly rotated ears
proteus-like syndrome	HP:0000828|Abnormality of the parathyroid gland;HP:0000615|Abnormality of the pupil;HP:0000518|Cataract;HP:0000541|Retinal detachment;HP:0000545|Myopia;HP:0001031|Subcutaneous lipoma;HP:0002652|Skeletal dysplasia;HP:0000303|Mandibular prognathia;HP:0009721|Shagreen patch;HP:0100774|Hyperostosis;HP:0002816|Genu recurvatum;HP:0000147|Polycystic ovaries;HP:0001334|Communicating hydrocephalus;HP:0001028|Hemangioma;HP:0000494|Downslanted palpebral fissures;HP:0000256|Macrocephaly;HP:0007400|Irregular hyperpigmentation;HP:0001100|Heterochromia iridis;HP:0005293|Venous insufficiency;HP:0001140|Epibulbar dermoid;HP:0010816|Epidermal nevus;HP:0000268|Dolichocephaly;HP:0001249|Intellectual disability;HP:0001744|Splenomegaly;HP:0010807|Open bite;HP:0100777|Exostoses;HP:0000463|Anteverted nares;HP:0100730|Bronchogenic cyst;HP:0100559|Lower limb asymmetry;HP:0010516|Thymus hyperplasia;HP:0000238|Hydrocephalus
craniolenticulosutural dysplasia	HP:0000670|Carious teeth;HP:0000239|Large fontanelles;HP:0000685|Hypoplasia of teeth;HP:0004322|Short stature;HP:0000336|Prominent supraorbital ridges;HP:0001000|Abnormality of skin pigmentation;HP:0002299|Brittle hair;HP:0000233|Thin vermilion border;HP:0000218|High palate;HP:0000953|Hyperpigmentation of the skin;HP:0000445|Wide nose;HP:0000750|Delayed speech and language development;HP:0000154|Wide mouth;HP:0002007|Frontal bossing;HP:0002652|Skeletal dysplasia;HP:0006480|Premature loss of teeth;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0000684|Delayed eruption of teeth;HP:0000774|Narrow chest;HP:0008031|Posterior Y-sutural cataract;HP:0005306|Capillary hemangiomas;HP:0004331|Decreased skull ossification;HP:0002208|Coarse hair;HP:0008808|High iliac wings;HP:0000327|Hypoplasia of the maxilla;HP:0002650|Scoliosis;HP:0000319|Smooth philtrum;HP:0008070|Sparse hair;HP:0008444|Posterior wedging of vertebral bodies;HP:0000426|Prominent nasal bridge;HP:0000691|Microdontia;HP:0001763|Pes planus
duodenal atresia	HP:0001734|Annular pancreas;HP:0001732|Abnormality of the pancreas;HP:0004414|Abnormality of the pulmonary artery;HP:0002247|Duodenal atresia;HP:0001561|Polyhydramnios
cryoglobulinemic vasculitis	HP:0002239|Gastrointestinal hemorrhage;HP:0002027|Abdominal pain;HP:0000093|Proteinuria;HP:0000083|Renal insufficiency;HP:0002829|Arthralgia;HP:0000967|Petechiae;HP:0100820|Glomerulopathy;HP:0000965|Cutis marmorata;HP:0003326|Myalgia;HP:0006562|Viral hepatitis;HP:0100721|Mediastinal lymphadenopathy;HP:0009830|Peripheral neuropathy;HP:0200042|Skin ulcer;HP:0000790|Hematuria;HP:0000979|Purpura;HP:0002633|Vasculitis;HP:0001945|Fever;HP:0001392|Abnormality of the liver;HP:0002240|Hepatomegaly;HP:0009831|Mononeuropathy;HP:0012224|Circulating immune complexes;HP:0007141|Sensorimotor neuropathy;HP:0100778|Cryoglobulinemia;HP:0001744|Splenomegaly;HP:0005244|Gastrointestinal infarctions;HP:0001097|Keratoconjunctivitis sicca;HP:0001369|Arthritis;HP:0001324|Muscle weakness;HP:0100758|Gangrene
sprengel deformity	HP:0004632|Cervical spine segmentation defect;HP:0000470|Short neck;HP:0000175|Cleft palate;HP:0000473|Torticollis;HP:0003043|Abnormality of the shoulder;HP:0008984|Small neck muscle;HP:0000912|High scapula;HP:0002937|Hemivertebra;HP:0002650|Scoliosis;HP:0003298|Spina bifida occulta;HP:0001435|Abnormality of the shoulder girdle musculature;HP:0008952|Shoulder muscle hypoplasia;HP:0008952|Underdeveloped shoulder muscle;HP:0006655|Rib segmentation abnormalities
benign cephalic histiocytosis	HP:0200034|Papule
thoracolaryngopelvic dysplasia	HP:0001591|Narrow, bell-shaped thorax;HP:0006606|Irregular chondrocostal junctions;HP:0003016|Wide metaphyses;HP:0001533|Asthenic habitus;HP:0002686|Prenatal maternal abnormality;HP:0000773|Rib hypoplasia;HP:0002866|Hypoplastic iliac alae;HP:0002650|Scoliosis;HP:0008839|Hypoplastic pelvic bones;HP:0003275|Narrow pelvis bone;HP:0000888|Horizontal ribs;HP:0003301|vertebral endplate irregularity;HP:0001602|Laryngeal stenosis
pancreatoblastoma	HP:0002013|Vomiting;HP:0002014|Diarrhea;HP:0002027|Abdominal pain;HP:0001824|Weight loss;HP:0005984|Elevated maternal serum alpha-fetoprotein;HP:0000952|Jaundice
epidermolytic palmoplantar keratoderma	HP:0010783|Erythema;HP:0000975|Hyperhidrosis;HP:0007559|Localized epidermolytic hyperkeratosis;HP:0000964|Eczema;HP:0001231|Abnormality of the fingernails;HP:0000982|Palmoplantar keratoderma;HP:0200043|Verrucae
atopic keratoconjunctivitis	HP:0007957|Corneal opacity;HP:0001097|Keratoconjunctivitis sicca;HP:0000958|Dry skin;HP:0000492|Abnormality of the eyelid;HP:0011457|Loss of eyelashes;HP:0000498|Blepharitis;HP:0012375|Chemosis;HP:0011496|Corneal neovascularization;HP:0000491|Keratitis
kyphomelic dysplasia	HP:0002986|Bowed radii;HP:0010049|Metacarpal hypoplasia;HP:0006487|Bowing of the long bones;HP:0002980|Bowed femura;HP:0000347|Hypoplasia of mandible;HP:0003498|Disproportionate short stature;HP:0003097|Short femur;HP:0001059|Pterygium;HP:0001176|Large hands;HP:0001376|Limitation of joint mobility;HP:0010306|Short thorax;HP:0010561|Undulate ribs;HP:0010561|Wavy ribs;HP:0000347|Micrognathia;HP:0012368|Flat face;HP:0000369|Low-set ears;HP:0001762|Talipes equinovarus;HP:0000921|Missing ribs;HP:0000204|Cleft upper lip;HP:0000774|Narrow chest;HP:0000175|Palatoschisis;HP:0003015|Metaphyseal splaying;HP:0005257|Small chest;HP:0005009|Dumbbell-shaped long bone in upper arm;HP:0002982|Bowed tibia;HP:0000907|Anteriorly splayed ribs;HP:0003312|Abnormal form of the vertebral bodies;HP:0003180|Flat acetabular roof;HP:0005280|Flat, nasal bridge;HP:0000926|Flattened vertebral bodies;HP:0001376|Decreased joint mobility;HP:0003031|Ulnar bowing;HP:0000895|Lateral clavicle hook;HP:0000348|High forehead;HP:0001387|Joint stiffness;HP:0003865|Humeral bowing;HP:0005792|Short upper arms;HP:0000907|Anterior rib cupping;HP:0001252|Muscular hypotonia;HP:0000944|Abnormality of the metaphyses;HP:0002983|Micromelia
leukonychia totalis	HP:0009720|Adenoma sebaceum;HP:0005978|Type II diabetes mellitus;HP:0000787|Nephrolithiasis;HP:0000613|Photophobia;HP:0000499|Abnormality of the eyelashes;HP:0000498|Blepharitis;HP:0001231|Abnormality of the fingernails;HP:0008388|Abnormality of the toenails
polymicrogyria with optic nerve hypoplasia	HP:0000609|Optic nerve hypoplasia;HP:0001250|Seizures;HP:0000252|Small head circumference;HP:0002187|Intellectual disability, profound;HP:0001263|Developmental retardation;HP:0001265|Decreased tendon reflexes;HP:0002126|Polymicrogyria;HP:0030048|Colpocephaly;HP:0002365|Hypoplasia of the brainstem;HP:0001319|Hypotonia, in neonatal onset
acquired generalized lipodystrophy	HP:0000831|Insulin-resistant diabetes mellitus;HP:0003707|Calf muscle pseudohypertrophy;HP:0005339|Abnormality of complement system;HP:0002960|Autoimmunity;HP:0012064|Unicameral bone cyst;HP:0003198|Myopathy;HP:0000093|Proteinuria;HP:0009064|Generalized lipodystrophy;HP:0000855|Insulin resistance;HP:0003119|Abnormality of lipid metabolism;HP:0011025|Abnormality of cardiovascular system physiology;HP:0000822|Hypertension;HP:0005328|Progeroid facial appearance;HP:0002155|Hypertriglyceridemia;HP:0001735|Acute pancreatitis;HP:0000147|Polycystic ovaries;HP:0009592|Astrocytoma;HP:0002665|Lymphoma;HP:0000842|Hyperinsulinemia;HP:0002230|Generalized hirsutism;HP:0001397|Hepatic steatosis;HP:0002240|Hepatomegaly;HP:0005616|Accelerated skeletal maturation;HP:0001638|Cardiomyopathy;HP:0001394|Cirrhosis;HP:0012490|Panniculitis;HP:0000956|Acanthosis nigricans;HP:0007440|Generalized hyperpigmentation
radioulnar synostosis with amegakaryocytic thrombocytopenia	HP:0002986|Bowed radii;HP:0000967|Petechiae;HP:0001159|Webbed fingers or toes;HP:0001915|Aplastic anemia;HP:0004209|Clinodactyly of fifth digit;HP:0004859|Amegakaryocytic thrombocytopenia;HP:0002827|Hip dislocation;HP:0005037|Proximal radio-ulnar synostosis;HP:0006394|Limited pronation/supination of forearm;HP:0000407|sensorineural hearing loss;HP:0000979|Purpura;HP:0001905|thrombocytopenia, congenital;HP:0005548|Megakaryocytopenia;HP:0003182|Shallow acetabulae;HP:0003031|Ulnar bowing
mazabraud syndrome	HP:0000924|Abnormality of the skeletal system;HP:0010734|Fibrous dysplasia of the bones;HP:0002653|Bone pain;HP:0002757|Recurrent fractures;HP:0002652|Skeletal dysplasia
metaphyseal anadysplasia	HP:0006487|Bowing of the long bones;HP:0006501|Aplasia/Hypoplasia of the radius;HP:0001387|Joint stiffness;HP:0004322|Short stature;HP:0002814|Abnormality of the lower limb;HP:0004039|Abnormality of ulnar metaphysis;HP:0005930|Abnormality of epiphysis morphology;HP:0002997|Abnormality of the ulna;HP:0000944|Abnormality of the metaphyses
otodental dysplasia	HP:0000668|Failure of development of between one and six teeth;HP:0000276|Long face;HP:0000463|Nostrils anteverted;HP:0000589|Ocular coloboma;HP:0000407|sensorineural hearing loss;HP:0000343|Vertical hyperplasia of philtrum;HP:0003771|Pulp calcifications;HP:0000679|Taurodont
rhombencephalosynapsis	HP:0000160|Narrow mouth;HP:0002023|Anal atresia;HP:0003196|Short nose;HP:0009943|Complete duplication of thumb phalanx;HP:0002119|Ventriculomegaly;HP:0100842|Septo-optic dysplasia;HP:0002251|Aganglionic megacolon;HP:0002575|Tracheoesophageal fistula;HP:0002032|Esophageal atresia;HP:0001251|Ataxia;HP:0000130|Abnormality of the uterus;HP:0006101|Finger syndactyly;HP:0000316|Hypertelorism;HP:0000271|Abnormality of the face;HP:0000478|Abnormality of the eye;HP:0000256|Macrocephaly;HP:0009803|Short phalanx of finger;HP:0012210|Abnormal renal morphology;HP:0010664|Fusion of the left and right thalami;HP:0001249|Intellectual disability;HP:0001626|Abnormality of the cardiovascular system;HP:0006899|Fusion of the cerebellar hemispheres;HP:0000504|Abnormality of vision;HP:0000308|Microretrognathia;HP:0000463|Anteverted nares;HP:0010442|Polydactyly;HP:0000368|Low-set, posteriorly rotated ears;HP:0100321|Abnormality of the dentate nucleus;HP:0002335|Agenesis of cerebellar vermis;HP:0000238|Hydrocephalus
uncombable hair syndrome	HP:0002552|Trichodysplasia;HP:0002229|Alopecia areata;HP:0011364|White hair;HP:0002224|Woolly hair;HP:0001595|Abnormality of the hair;HP:0002208|Coarse hair
pontiac fever	HP:0003326|Myalgia;HP:0012378|Fatigue;HP:0001945|Fever;HP:0012735|Cough;HP:0002315|Headache
2-methylbutyryl-coa dehydrogenase deficiency	HP:0001252|Hypotonia;HP:0003700|Diffuse muscle wasting;HP:0001250|Seizures;HP:0000252|Small head circumference;HP:0002045|Abnormally low body temperature;HP:0001263|Developmental retardation;HP:0000577|Exotropia;HP:0001254|Lethargy;HP:0001943|Hypoglycemia;HP:0001270|Motor retardation;HP:0005949|Apneic episodes in infancy
congenital pulmonary lymphangiectasia	HP:0001635|Congestive heart failure;HP:0000961|Cyanosis;HP:0002020|Gastroesophageal reflux;HP:0001744|Splenomegaly;HP:0002098|Respiratory distress;HP:0002202|Pleural effusion;HP:0002240|Hepatomegaly;HP:0005180|Tricuspid regurgitation;HP:0012735|Cough;HP:0011852|Chylopericardium;HP:0006510|Chronic obstructive pulmonary disease;HP:0002092|Pulmonary arterial hypertension;HP:0001541|Ascites;HP:0001642|Pulmonic stenosis;HP:0001510|Growth delay;HP:0001789|Hydrops fetalis
intestinal botulism	HP:0002094|Dyspnea;HP:0011499|Mydriasis;HP:0002014|Diarrhea;HP:0002015|Dysphagia;HP:0002017|Nausea and vomiting;HP:0001522|Death in infancy;HP:0002747|Respiratory insufficiency due to muscle weakness;HP:0006824|Cranial nerve paralysis;HP:0001252|Muscular hypotonia;HP:0000651|Diplopia;HP:0000217|Xerostomia;HP:0000508|Ptosis;HP:0001260|Dysarthria
pyruvate dehydrogenase phosphatase deficiency	HP:0001252|Hypotonia;HP:0000639|Nystagmus;HP:0001250|Seizures;HP:0002928|Pyruvate dehydrogenase complex deficiency;HP:0001263|Developmental retardation;HP:0003128|Lactic acidosis;HP:0002066|Gait ataxia;HP:0002015|Swallowing difficulty;HP:0001249|Mental retardation
barakat syndrome	HP:0000110|Renal dysplasia;HP:0000829|Hypoparathyroidism;HP:0003762|Uterus didelphys;HP:0000407|sensorineural hearing loss;HP:0000100|Nephrosis;HP:0012622|Chronic kidney disease;HP:0004722|Thickening of the glomerular basement membrane;HP:0001153|Double vagina
insulin autoimmune syndrome	HP:0003162|Fasting hypoglycemia;HP:0000831|Insulin-resistant diabetes mellitus;HP:0000956|Acanthosis nigricans;HP:0001958|Nonketotic hypoglycemia;HP:0005059|Arthralgia/arthritis;HP:0000855|Insulin resistance;HP:0002960|Autoimmunity;HP:0001824|Weight loss;HP:0012051|Reactive hypoglycemia;HP:0002725|Systemic lupus erythematosus;HP:0000825|Hyperinsulinemic hypoglycemia;HP:0030057|Autoimmune antibody positivity;HP:0010702|Increased antibody level in blood
sudden infant death with dysgenesis of the testes syndrome	HP:0008708|Partial development of the penile shaft;HP:0000028|Cryptorchidism;HP:0010307|Stridor;HP:0000033|Ambiguous genitalia, male;HP:0001939|Laboratory abnormality;HP:0008733|Dysplastic testes;HP:0001308|Tongue fasciculation;HP:0001510|Growth deficiency;HP:0000478|Abnormal eye;HP:0002020|Heartburn;HP:0006543|Cardiorespiratory arrest;HP:0001608|Voice abnormality;HP:0001662|Bradycardia;HP:0008715|Testicular dysgenesis;HP:0002104|Absence of spontaneous respiration;HP:0008872|Feeding difficulties in infancy
pigmented paravenous chorioretinal atrophy	HP:0007903|Paravenous chorioretinal atrophy;HP:0000540|Hypermetropia;HP:0007737|Fundus with peripheral bony spicules;HP:0000655|Vitreoretinal degeneration;HP:0000565|Inward turning of one or both eyes
brunner syndrome	HP:0000717|Autism;HP:0000744|Low frustration tolerance;HP:0100716|Autoagression;HP:0001270|Motor retardation;HP:0001249|Mental retardation;HP:0000718|Aggressive behaviour
n syndrome	HP:0000028|Cryptorchidism;HP:0001257|Spasticity;HP:0000047|Hypospadias;HP:0001263|Global developmental delay;HP:0000505|Poor vision;HP:0005517|T-cell lymphoma/leukemia;HP:0000492|Abnormality of the eyelid;HP:0000505|Visual impairment;HP:0008619|Bilateral sensorineural hearing impairment;HP:0001909|Leukemia;HP:0012374|Abnormality of the globe;HP:0000365|Hearing impairment;HP:0000485|Megalocornea;HP:0001249|Intellectual disability;HP:0003220|Abnormality of chromosome stability;HP:0001249|Mental retardation;HP:0002664|Neoplasia
pineocytoma	HP:0000639|Nystagmus;HP:0000492|Abnormality of the eyelid;HP:0100543|Cognitive impairment;HP:0000364|Hearing abnormality;HP:0002131|Episodic ataxia;HP:0002516|Increased intracranial pressure;HP:0002017|Nausea and vomiting;HP:0002354|Memory impairment;HP:0002922|Increased CSF protein;HP:0030531|Altitudinal visual field defect;HP:0002355|Difficulty walking;HP:0000238|Hydrocephalus;HP:0002315|Headache
corticosteroid-binding globulin deficiency	HP:0001939|Laboratory abnormality;HP:0000822|Hypertension;HP:0003750|Increased muscle fatiguability;HP:0002615|Low blood pressure
tropical calcific pancreatitis	HP:0002894|Neoplasia of the pancreas;HP:0002027|Abdominal pain;HP:0006280|Chronic pancreas inflammation;HP:0008205|Insulin-dependent but ketosis-resistant diabetes;HP:0005213|Pancreatic calcifications
cutis marmorata telangiectatica congenita	HP:0100026|Arteriovenous malformation;HP:0100543|Cognitive impairment;HP:0000541|Retinal detachment;HP:0100585|Telangiectasia of the skin;HP:0001770|Toe syndactyly;HP:0100555|Asymmetric growth;HP:0002979|Bowing of the legs;HP:0100545|Arterial stenosis;HP:0000541|Detached retina;HP:0000965|Cutis marmorata;HP:0000347|Micrognathia;HP:0006101|Finger syndactyly;HP:0000822|Hypertension;HP:0001643|Patent ductus arteriosus;HP:0001511|Intrauterine growth retardation;HP:0000979|Purpura;HP:0001541|Ascites;HP:0005306|Capillary hemangiomas;HP:0001250|Seizures;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0000003|Multicystic kidney dysplasia;HP:0100814|Blue nevus;HP:0006385|Short legs;HP:0000965|Livedo reticularis;HP:0100627|Displacement of the external urethral meatus;HP:0002650|Scoliosis;HP:0002814|Abnormality of the lower limb;HP:0000951|Abnormality of the skin;HP:0200041|Skin erosion;HP:0006385|Short lower limbs;HP:0001933|Subcutaneous hemorrhage;HP:0000555|Leukocoria;HP:0000202|Oral cleft;HP:0001009|Telangiectases;HP:0002817|Abnormality of the upper limb;HP:0004349|Reduced bone mineral density;HP:0000501|Glaucoma;HP:0007565|Multiple cafe-au-lait spots;HP:0000821|Hypothyroidism
saccharopinuria	HP:0002927|Histidinuria;HP:0004322|Stature below 3rd percentile;HP:0002353|Abnormal EEG;HP:0003297|High blood lysine levels;HP:0001264|Spastic diplegia;HP:0001249|Mental retardation
aredyld	HP:0001939|Laboratory abnormality;HP:0000968|Ectodermal dysplasia;HP:0000303|Increased size of lower jaw;HP:0004528|Generalized hypotrichosis;HP:0000598|Ear anomaly
primrose syndrome	HP:0000767|Funnel chest;HP:0040160|Generalized osteoporosis;HP:0002079|Hypoplasia of the corpus callosum;HP:0000365|Hearing impairment;HP:0000490|Sunken eyes;HP:0000248|Brachycephaly;HP:0002221|Absent axillary hair;HP:0005121|Posterior scalloping of vertebral bodies;HP:0011800|Midface, flat;HP:0000256|Macrocrania;HP:0001840|Forefoot varus;HP:0009882|Hypoplastic terminal phalanges;HP:0002868|Narrow iliac wings;HP:0004322|Stature below 3rd percentile;HP:0002808|Gibbus deformity;HP:0000771|Gynaecomastia;HP:0002514|Intracranial calcifications;HP:0008541|Superiorly displaced ears;HP:0006380|Contractures of knees;HP:0000179|Plump lower lip;HP:0100716|Autoagression;HP:0001249|Mental retardation;HP:0001252|Hypotonia;HP:0002550|Absent facial hair;HP:0000327|Maxillary micrognathia;HP:0001115|Posterior polar cataract;HP:0003693|Muscle atrophy, distal;HP:0000400|Large ears;HP:0008689|Bilateral cryptorchidism;HP:0000774|Low chest circumference;HP:0005103|Calcification of the auricular cartilage;HP:0002180|Neurodegeneration;HP:0000337|Increased bitemporal dimension;HP:0002857|Genu valgum;HP:0003301|vertebral endplate irregularity;HP:0001761|Pes cavus;HP:0000717|Autism;HP:0000272|Depressed malar region;HP:0005758|Basilar impression;HP:0001956|Centripetal obesity;HP:0003273|Flexion contracture of hips;HP:0000494|Downward slanting palpebral fissures;HP:0000508|Drooping upper eyelid;HP:0000664|Unibrow;HP:0000718|Aggressive behaviour
naegeli-franceschetti-jadassohn syndrome	HP:0008391|Dystrophic fingernails;HP:0000968|Ectodermal dysplasia;HP:0001810|Dystrophic toenail;HP:0000682|Abnormality of dental enamel;HP:0007455|Adermatoglyphia;HP:0007435|Diffuse palmoplantar keratoderma;HP:0007588|Reticular hyperpigmentation
transient erythroblastopenia of childhood	HP:0005510|Transient decrease in blood erythrocyte number
phosphoglycerate dehydrogenase deficiency	HP:0000639|Nystagmus;HP:0001250|Seizures;HP:0001873|Low platelet count;HP:0001181|Adducted thumbs;HP:0001889|Megaloblastic anemia;HP:0002510|Spastic quadriplegia;HP:0001510|Growth deficiency;HP:0011451|Microcephaly present at birth;HP:0008734|Decreased testicular size;HP:0007266|Areas of dysmyelination on MRI;HP:0000519|Cataracts, lenticular, bilateral;HP:0002521|Hypsarrhythmia by EEG;HP:0001249|Mental retardation
46,xy complete gonadal dysgenesis	HP:0000044|Hypogonadotrophic hypogonadism;HP:0000147|Polycystic ovaries;HP:0008715|Testicular dysgenesis;HP:0000037|Male pseudohermaphroditism
dystrophic epidermolysis bullosa pruriginosa	HP:0000963|Thin skin;HP:0001075|Atrophic scars;HP:0008404|Nail dystrophy;HP:0200037|Skin vesicle;HP:0001056|Milia;HP:0000989|Pruritus;HP:0200036|Skin nodule;HP:0001030|Fragile skin;HP:0200034|Papule;HP:0008066|Abnormal blistering of the skin
hereditary hyperferritinemia with congenital cataracts	HP:0000518|Cataract;HP:0001939|Abnormality of metabolism/homeostasis
encephalopathy due to glut1 deficiency	HP:0001263|Global developmental delay;HP:0002186|Apraxia;HP:0007308|Extrapyramidal dyskinesia;HP:0001336|Myoclonus;HP:0002133|Status epilepticus;HP:0003552|Muscle stiffness;HP:0007034|Generalized hyperreflexia;HP:0100660|Dyskinesia;HP:0001266|Choreoathetosis;HP:0001269|Hemiparesis;HP:0002871|Central apnea;HP:0002072|Chorea;HP:0001260|Dysarthria;HP:0000750|Delayed speech and language development;HP:0000961|Cyanosis;HP:0001257|Spasticity;HP:0001251|Ataxia;HP:0001289|Confusion;HP:0001254|Lethargy;HP:0000486|Strabismus;HP:0001332|Dystonia;HP:0001276|Hypertonia;HP:0000253|Progressive microcephaly;HP:0002353|EEG abnormality;HP:0003470|Paralysis;HP:0001250|Seizures;HP:0002360|Sleep disturbance;HP:0001249|Intellectual disability;HP:0001298|Encephalopathy;HP:0007704|Paroxysmal involuntary eye movements;HP:0002315|Headache;HP:0011972|Hypoglycorrhachia;HP:0001877|Abnormality of erythrocytes
pruritic urticarial papules and plaques of pregnancy	HP:0001065|Purplish striae
autosomal dominant vitreoretinochoroidopathy	HP:0000639|Nystagmus;HP:0000541|Detached retina;HP:0000551|Abnormal color vision;HP:0000486|Squint eyes;HP:0007902|Vitreous hemorrhage;HP:0007641|Dyschromatopsia;HP:0000482|Microcornea;HP:0000662|Poor night vision;HP:0000580|Pigmentary retinopathy;HP:0000568|Abnormally small globe of eye;HP:0010693|Pulverulent cataract;HP:0000501|Glaucoma;HP:0007985|Retinal arteriolar occlusion;HP:0007661|Abnormality of chorioretinal pigmentation;HP:0008043|Constricted retinal arterioles
jensen syndrome	HP:0003700|Diffuse muscle wasting;HP:0000618|Blindness;HP:0008610|Infantile sensorineural hearing impairment;HP:0002514|Intracranial calcifications;HP:0000726|Dementia;HP:0000648|Optic-nerve degeneration
adducted thumbs syndrome	HP:0000924|Abnormality of the skeletal system;HP:0002058|Myopathic facies;HP:0000998|Hypertrichosis;HP:0006990|Myelin-dependent gliosis;HP:0002015|Swallowing difficulty;HP:0000252|Small head circumference;HP:0003198|Myopathic changes;HP:0000218|Increased palatal height;HP:0007266|Areas of dysmyelination on MRI;HP:0001363|Early fusion of cranial sutures;HP:0001290|Generalized hypotonia;HP:0000707|Neurological abnormality;HP:0000220|Velopharyngeal insufficiency;HP:0000175|Palatoschisis;HP:0002804|Arthrogryposis multiplex congenita;HP:0002093|progressive respiratory failure
early-onset myopathy with fatal cardiomyopathy	HP:0003198|Myopathic changes;HP:0003236|Elevated creatine kinase;HP:0008981|Increased size of calf muscles;HP:0003324|Muscle weakness, diffuse;HP:0001270|Motor retardation;HP:0000508|Drooping upper eyelid;HP:0011675|Arrhythmias;HP:0001644|Congestive cardiomyopathy;HP:0010628|Facial palsy, unilateral or bilateral;HP:0003687|Central nuclei
n-acetylglutamate synthase deficiency	HP:0001250|Seizures;HP:0001289|Confusion;HP:0100543|Cognitive deficits;HP:0001254|Lethargy;HP:0001987|Hyperammonemia;HP:0001259|Coma;HP:0001508|Weight faltering;HP:0002013|Emesis;HP:0002098|Respiratory distress;HP:0000718|Aggressive behaviour
aland island eye disease	HP:0000639|Nystagmus;HP:0001939|Laboratory abnormality;HP:0000545|Near sightedness;HP:0000483|Astigmatism;HP:0001141|Severe visual impairment;HP:0001022|Achromasia;HP:0007750|Hypoplasia of the fovea
amyloidosis vi	HP:0001342|Intracerebral hemorrhage;HP:0000726|Dementia;HP:0002170|Intracranial hemorrhage;HP:0003216|Generalized amyloid deposition;HP:0001297|Cerebral vascular events
congenital macroglossia	HP:0000158|Abnormally large tongue;HP:0000158|Macroglossia
roussy-levy hereditary areflexic dystasia	HP:0001765|Hammertoes;HP:0002751|Kyphoscoliosis;HP:0003431|Decreased motor nerve conduction velocities;HP:0003481|Segmental peripheral demyelination/remyelination;HP:0002936|Decreased distal sensation;HP:0003693|Muscle atrophy, distal;HP:0001265|Decreased tendon reflexes;HP:0001284|Areflexia;HP:0002715|Abnormality of the immune system;HP:0007351|Upper limb postural tremor;HP:0003382|Hypertrophic nerve changes;HP:0003380|Decreased number of peripheral myelinated nerve fibers;HP:0002460|Weakness of distal muscles;HP:0002066|Gait ataxia;HP:0001270|Motor retardation;HP:0003383|'Onion bulb' formations;HP:0001761|Pes cavus
thiopurine s methyltranferase deficiency	HP:0001939|Laboratory abnormality;HP:0001871|Abnormality of blood and blood-forming tissues
branchiootic syndrome	HP:0000413|Atresia of the external auditory canal;HP:0000324|Facial asymmetry;HP:0000347|Micrognathia;HP:0000175|Cleft palate;HP:0000356|Abnormality of the outer ear;HP:0000365|Hearing impairment;HP:0000614|Abnormality of the nasolacrimal system;HP:0000359|Abnormality of the inner ear;HP:0004467|Preauricular pit;HP:0010628|Facial palsy;HP:0100267|Lip pit;HP:0000407|Sensorineural hearing impairment;HP:0009795|Branchial fistula;HP:0000384|Preauricular skin tag;HP:0000405|Conductive hearing impairment;HP:0008609|Morphological abnormality of the middle ear
hydrocephalus due to congenital stenosis of aqueduct of sylvius	HP:0001257|Spasticity;HP:0009600|Flexion contracture of thumb;HP:0001331|Agenesis of the septum pellucidum;HP:0001181|Adducted thumbs;HP:0007016|Corticospinal tract hypoplasia;HP:0002410|Aqueductal stenosis;HP:0001258|Spastic paraplegia, lower limb;HP:0000256|Macrocrania;HP:0000238|Nonsyndromal hydrocephalus;HP:0001274|Absent corpus callosum;HP:0001249|Mental retardation
jansen type metaphyseal chondrodysplasia	HP:0003109|Hyperphosphaturia;HP:0000938|Decreased bone mineral density;HP:0000347|Hypoplasia of mandible;HP:0100759|Finger clubbing;HP:0000365|Hearing impairment;HP:0003155|Hyperphosphatasia;HP:0000248|Brachycephaly;HP:0000316|Increased distance between eye sockets;HP:0003026|shortened long tubular bones;HP:0000453|Blockage of the rear opening of the nasal cavity;HP:0004209|Clinodactyly of fifth digit;HP:0002150|Hypercalcinuria;HP:0003510|Proportionate dwarfism;HP:0005871|Metaphyseal chondrodysplasia;HP:0006380|Contractures of knees;HP:0006487|Camptomelia;HP:0000773|Rib hypoplasia;HP:0000121|Nephrocalcinosis;HP:0000692|Malpositioned teeth;HP:0004676|Prominent supraorbital arches in adult;HP:0002515|Waddling gait;HP:0002148|Hypophosphataemia;HP:0003072|Hypercalcemia;HP:0000520|Anterior bulging of the globe of eye;HP:0002737|Increased thickness of bone of skull base;HP:0000829|Hypoparathyroidism;HP:0003273|Flexion contracture of hips;HP:0000452|Coanal stenosis;HP:0003021|Metaphyseal cupping;HP:0002756|Pathologic fracture
sorsby fundus dystrophy	HP:0007754|Macular dystrophy
cerebral creatine deficiency syndrome 2	HP:0000750|Late-onset speech development;HP:0001250|Seizures;HP:0008947|Hypotonia early;HP:0001251|Ataxia;HP:0001263|Developmental retardation;HP:0001347|Hyperreflexia;HP:0007153|Progressive extrapyramidal movement disorder;HP:0001336|Myoclonic jerks;HP:0001276|Hypertonia;HP:0001249|Mental retardation
tietz albinism-deafness syndrome	HP:0000635|Blue irides;HP:0008619|Bilateral sensorineural hearing impairment;HP:0002226|Pale eyebrow;HP:0007894|Retinal depigmentation;HP:0008527|Hearing loss, congenital sensorineural;HP:0002227|Pale eyelashes;HP:0007513|Pale pigmentation
hypophosphatasia, infantile	HP:0003239|Phosphoethanolaminuria;HP:0002205|Frequent respiratory infections;HP:0000592|Bluish sclerae;HP:0001363|Early fusion of cranial sutures;HP:0002979|Bowing of the legs;HP:0001561|Hydramnios;HP:0002019|Dyschezia;HP:0008873|Dwarfism, short-limbed;HP:0001024|Skin dimple over apex of long bone angulation;HP:0011864|Elevated plasma pyrophosphate;HP:0002013|Emesis;HP:0000164|Abnormality of the teeth;HP:0002150|Hypercalcinuria;HP:0001903|Anemia;HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0008428|Vertebral clefting;HP:0004606|Unossified vertebral bodies;HP:0006385|Short legs;HP:0000773|Rib hypoplasia;HP:0000121|Nephrocalcinosis;HP:0001508|Weight faltering;HP:0001945|Fever;HP:0001608|Voice abnormality;HP:0005474|Poorly ossified calvaria;HP:0000926|Flattened vertebral bodies;HP:0003072|Hypercalcemia;HP:0003491|Elevated urine pyrophosphate;HP:0000897|Rachitic rosary;HP:0002104|Absence of spontaneous respiration;HP:0004492|Widely patent fontanelles and sutures;HP:0002659|Increased tendency to fractures;HP:0003021|Metaphyseal cupping;HP:0000737|Irritability;HP:0002170|Intracranial hemorrhage;HP:0002039|Anorexia;HP:0002983|Micromelia
corneal dystrophy, posterior polymorphous, 1	HP:0009926|Epiphora;HP:0011483|Cornea-iris adhesion;HP:0000585|Band keratopathy;HP:0007915|Polymorphous posterior corneal dystrophy;HP:0000613|Extreme light sensitivity;HP:0000501|Glaucoma;HP:0011490|Abnormality of Descemet's membrane
hyperchylomicronemia, late-onset	HP:0003233|Low HDL-cholesterol;HP:0012238|Increased chylomicrons;HP:0003362|Increased circulating very-low-density lipoprotein cholesterol;HP:0003563|Hypobetalipoproteinemia
heart-hand syndrome, slovenian type	HP:0003198|Myopathic changes;HP:0001159|Webbed fingers or toes;HP:0030084|Clinodactyly;HP:0010239|Absent middle bones of hand;HP:0001644|Congestive cardiomyopathy;HP:0001156|Brachydactyly
goldberg-shprintzen megacolon syndrome	HP:0002079|Hypoplasia of the corpus callosum;HP:0000535|Sparse eyebrow;HP:0000307|Pointed chin;HP:0004322|Short stature;HP:0002119|Ventriculomegaly;HP:0002251|Aganglionic megacolon;HP:0000508|Ptosis;HP:0000047|Hypospadias;HP:0006101|Finger syndactyly;HP:0000316|Hypertelorism;HP:0001302|Pachygyria;HP:0000048|Bifid scrotum;HP:0000612|Iris coloboma;HP:0001250|Seizures;HP:0000175|Cleft palate;HP:0002209|Sparse scalp hair;HP:0000252|Microcephaly;HP:0000431|Wide nasal bridge;HP:0001249|Intellectual disability;HP:0000400|Macrotia;HP:0001328|Specific learning disability;HP:0001252|Muscular hypotonia;HP:0000340|Sloping forehead
spondyloepiphyseal dysplasia, kimberley type	HP:0003508|Proportionate short stature;HP:0003508|Short stature, proportionate;HP:0002970|Genu varum;HP:0003370|Flat capital femoral epiphyses;HP:0002983|Micromelia;HP:0002750|Delayed bone maturation;HP:0002758|Osteoarthritis;HP:0005930|Abnormality of epiphysis morphology;HP:0000926|Platyspondyly;HP:0002857|Genu valgum;HP:0010306|Short thorax;HP:0000926|Flattened vertebral bodies;HP:0002655|Spondyloepiphyseal dysplasia
fuhrmann syndrome	HP:0002986|Bowed radii;HP:0001802|Absent toenail;HP:0006492|Aplasia/Hypoplasia of the fibula;HP:0009767|Aplasia/Hypoplasia of the phalanges of the hand;HP:0002980|Bowed femura;HP:0005914|Metacarpal aplasia/hypoplasia;HP:0001770|Toe syndactyly;HP:0001374|Congenital hip dislocation;HP:0004322|Stature below 3rd percentile;HP:0000141|Abnormal absence of menstruation;HP:0006101|Finger syndactyly;HP:0006495|Hypoplasia or unilateral/bilateral absence of ulna;HP:0001762|Talipes equinovarus;HP:0005613|Absent/small thighbone;HP:0006262|Absent/small little finger;HP:0030084|Clinodactyly;HP:0009465|Medially deviated fingers;HP:0006143|Abnormal finger flexion creases;HP:0001162|Postaxial polydactyly of fingers;HP:0001849|Missing toes;HP:0006443|Patellar aplasia;HP:0002866|Hypoplastic iliac alae;HP:0008839|Hypoplastic pelvic bones;HP:0001180|Hand oligodactyly;HP:0002990|Absent calf bone;HP:0001964|Absent/hypoplastic metacarpals;HP:0002984|Hypoplastic radius
hyperkeratosis lenticularis perstans	HP:0002860|Squamous cell carcinoma;HP:0007570|Flegel disease;HP:0007570|Hyperkeratosis lenticularis perstans;HP:0000989|Pruritus;HP:0200042|Skin ulcer;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0200034|Papule;HP:0002671|Basal cell carcinoma
amegakaryocytic thrombocytopenia, congenital	HP:0001876|Low blood cell count;HP:0001873|Low platelet count;HP:0005548|Megakaryocytopenia;HP:0004859|Amegakaryocytic thrombocytopenia;HP:0001320|Hypoplasia of the cerebellar vermis
palmoplantar keratoderma, epidermolytic	HP:0007559|Localized epidermolytic hyperkeratosis;HP:0003212|Elevated serum IgE;HP:0000972|Thick palms and soles
cylindromatosis, familial	HP:0008069|Neoplasm of the skin
patella, chondromalacia of	HP:0003045|Patellar abnormality
mental retardation, truncal obesity, retinal dystrophy, and micropenis	HP:0000750|Late-onset speech development;HP:0000556|Retinal dystrophy;HP:0000505|Poor vision;HP:0002342|Intellectual disability, moderate;HP:0001956|Centripetal obesity;HP:0000518|Cataract;HP:0008915|Childhood-onset truncal obesity;HP:0000054|Short penis
nodular lymphocyte predominant hodgkin lymphoma	HP:0002716|Lymphadenopathy;HP:0001744|Splenomegaly;HP:0000975|Hyperhidrosis;HP:0002721|Immunodeficiency;HP:0002665|Lymphoma;HP:0005561|Abnormality of bone marrow cell morphology;HP:0012378|Fatigue;HP:0012191|B-cell lymphoma;HP:0001824|Weight loss;HP:0000989|Pruritus;HP:0001945|Fever;HP:0002240|Hepatomegaly;HP:0002039|Anorexia;HP:0003002|Breast carcinoma
eiken syndrome	HP:0003025|Metaphyseal irregularity;HP:0004322|Short stature;HP:0006376|Limited elbow flexion;HP:0002663|Delayed epiphyseal ossification;HP:0100671|Abnormal trabecular bone morphology;HP:0002829|Arthralgia;HP:0003170|Abnormality of the acetabulum;HP:0002652|Skeletal dysplasia;HP:0010305|Absence of the sacrum;HP:0002656|Epiphyseal dysplasia;HP:0002663|Delayed opacification of the epiphyses;HP:0004279|Short palm;HP:0008808|High iliac wings;HP:0001773|Short foot;HP:0001831|Short toe;HP:0011849|Abnormal bone ossification;HP:0009803|Short phalanx of finger;HP:0001769|Broad foot;HP:0001211|Abnormality of the fingertips;HP:0002753|Thin bony cortex;HP:0002967|Cubitus valgus;HP:0003275|Narrow pelvis bone;HP:0008800|Limited hip movement;HP:0003038|Fibular hypoplasia;HP:0001169|Broad palm
bullous lichen planus	HP:0100725|Lichenification;HP:0008066|Abnormal blistering of the skin;HP:0000989|Pruritus;HP:0100783|Breast aplasia;HP:0200034|Papule
acromegaloid facial appearance syndrome	HP:0000157|Abnormality of the tongue;HP:0001176|large hand;HP:0002553|Highly arched eyebrow;HP:0000581|Blepharophimosis;HP:0001176|Large hands;HP:0003189|Long nose;HP:0000232|Everted lower lip vermilion;HP:0000347|Micrognathia;HP:0000153|Abnormal mouth;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0000158|Macroglossia;HP:0000574|Thick eyebrow;HP:0001256|Intellectual disability, mild;HP:0001250|Seizures;HP:0000159|Abnormality of the lip;HP:0001163|Abnormality of the metacarpal bones;HP:0001182|Tapered finger;HP:0000664|Synophrys;HP:0004493|Craniofacial hyperostosis;HP:0009928|Thick nasal alae;HP:0001520|Birthweight > 90th percentile;HP:0000179|Thick lower lip vermilion;HP:0001328|Specific learning disability;HP:0001072|Thickened skin;HP:0000280|Coarse facial features;HP:0001256|Mild mental retardation;HP:0000212|Gingival overgrowth;HP:0000414|Bulbous nose;HP:0100540|Palpebral edema;HP:0000340|Sloping forehead
pfapa syndrome	HP:0002829|Arthralgia;HP:0000708|Behavioral abnormality;HP:0001744|Splenomegaly;HP:0002716|Lymphadenopathy;HP:0004370|Abnormality of temperature regulation;HP:0001369|Arthritis;HP:0000163|Abnormality of the oral cavity;HP:0012378|Fatigue;HP:0002027|Abdominal pain;HP:0002017|Nausea and vomiting;HP:0001824|Weight loss;HP:0100776|Recurrent pharyngitis;HP:0002240|Hepatomegaly;HP:0002076|Migraine;HP:0002383|Encephalitis;HP:0002024|Malabsorption
spondylo-ocular syndrome	HP:0000639|Nystagmus;HP:0000470|Short neck;HP:0000568|Microphthalmia;HP:0008063|Aplasia/Hypoplasia of the lens;HP:0000518|Cataract;HP:0004322|Short stature;HP:0000541|Retinal detachment;HP:0000545|Myopia;HP:0001629|Ventricular septal defect;HP:0003521|Disproportionate short-trunk short stature;HP:0000233|Thin vermilion border;HP:0000572|Visual loss;HP:0000974|Hyperextensible skin;HP:0000369|Low-set ears;HP:0000465|Webbed neck;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0005692|Joint hyperflexibility;HP:0004467|Preauricular pit;HP:0007730|Iris hypopigmentation;HP:0005108|Abnormality of the intervertebral disk;HP:0002942|Thoracic kyphosis;HP:0009738|Abnormality of the antihelix;HP:0000939|Osteoporosis;HP:0000926|Platyspondyly;HP:0001249|Intellectual disability;HP:0002162|Low posterior hairline;HP:0000297|Facial hypotonia;HP:0001763|Pes planus;HP:0000391|Thickened helices;HP:0000534|Abnormality of the eyebrow
nathalie syndrome	HP:0000518|Cataract;HP:0003115|Abnormal EKG;HP:0003202|Neurogenic muscle atrophy, especially in the lower limbs;HP:0000119|Genitourinary abnormality;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0001510|Growth deficiency;HP:0011675|Arrhythmia;HP:0000407|Sensorineural hearing impairment
craniotelencephalic dysplasia	HP:0002139|Arrhinencephaly;HP:0001263|Global developmental delay;HP:0001274|Agenesis of corpus callosum;HP:0000568|Microphthalmia;HP:0001321|Cerebellar hypoplasia;HP:0100842|Septo-optic dysplasia;HP:0001363|Early fusion of cranial sutures;HP:0001274|Absent corpus callosum;HP:0001339|Lissencephaly;HP:0002007|Frontal bossing;HP:0000384|Preauricular skin tag;HP:0001263|Developmental retardation;HP:0007330|Frontal encephalocele;HP:0000252|Microcephaly;HP:0000648|Optic atrophy;HP:0000609|Optic nerve hypoplasia;HP:0001363|Craniosynostosis;HP:0000505|Visual impairment;HP:0001331|Agenesis of the septum pellucidum;HP:0000568|Abnormally small globe of eye;HP:0000368|Low-set, posteriorly rotated ears;HP:0001321|Small cerebellum;HP:0000238|Hydrocephalus;HP:0000601|Closely spaced eyes
codas syndrome	HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0000518|Cataract;HP:0000682|Abnormality of dental enamel;HP:0003196|Short nose;HP:0004322|Short stature;HP:0001629|Ventricular septal defect;HP:0009901|Crumpled ear;HP:0000072|Hydroureter;HP:0005930|Abnormality of epiphysis morphology;HP:0005280|Depressed nasal bridge;HP:0001600|Abnormality of the larynx;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0000508|Ptosis;HP:0001156|Brachydactyly syndrome;HP:0001374|Congenital hip dislocation;HP:0012368|Flat face;HP:0000486|Strabismus;HP:0006482|Abnormality of dental morphology;HP:0005692|Joint hyperflexibility;HP:0000684|Delayed eruption of teeth;HP:0000407|Sensorineural hearing impairment;HP:0010049|Short metacarpal;HP:0000396|Overfolded helix;HP:0000286|Epicanthus;HP:0003312|Abnormal form of the vertebral bodies;HP:0002650|Scoliosis;HP:0005242|Extrahepatic biliary duct atresia;HP:0002750|Delayed skeletal maturation;HP:0000463|Anteverted nares;HP:0004122|Midline defect of the nose;HP:0001252|Muscular hypotonia;HP:0003417|Coronal cleft vertebrae
acrorenal syndrome	HP:0008678|Renal hypoplasia/aplasia;HP:0001171|Split hand;HP:0012210|Kidney malformation;HP:0000347|Micrognathia;HP:0000175|Cleft palate;HP:0000504|Abnormality of vision;HP:0000083|Renal insufficiency;HP:0006501|Aplasia/Hypoplasia of the radius;HP:0001180|Hand oligodactyly;HP:0002992|Abnormality of the tibia;HP:0002997|Abnormality of the ulna;HP:0012210|Abnormal renal morphology;HP:0000478|Abnormality of the eye
benign recurrent intrahepatic cholestasis	HP:0002910|Elevated hepatic transaminases;HP:0001394|Cirrhosis;HP:0001402|Hepatocellular carcinoma;HP:0001081|Cholelithiasis;HP:0012378|Fatigue;HP:0001733|Pancreatitis;HP:0000365|Hearing impairment;HP:0002027|Abdominal pain;HP:0001824|Weight loss;HP:0000989|Pruritus;HP:0002017|Nausea and vomiting;HP:0002028|Chronic diarrhea;HP:0000952|Jaundice;HP:0011985|Acholic stools;HP:0002039|Anorexia;HP:0002611|Cholestatic liver disease
coloboma of macula	HP:0001116|Macular coloboma
neurofibromatosis-noonan syndrome	HP:0000028|Cryptorchidism;HP:0011039|Abnormality of the helix;HP:0009023|Abdominal wall muscle weakness;HP:0002015|Dysphagia;HP:0003010|Prolonged bleeding time;HP:0004322|Short stature;HP:0000465|Webbed neck;HP:0000316|Hypertelorism;HP:0000765|Abnormality of the thorax;HP:0000368|Low-set, posteriorly rotated ears;HP:0001328|Specific learning disability;HP:0100763|Abnormality of the lymphatic system;HP:0001639|Hypertrophic cardiomyopathy;HP:0007565|Multiple cafe-au-lait spots;HP:0001642|Pulmonic stenosis;HP:0000508|Ptosis;HP:0000271|Abnormality of the face;HP:0000494|Downslanted palpebral fissures
madelung deformity	HP:0008873|Disproportionate short-limb short stature;HP:0006459|Dorsal subluxation of ulna;HP:0003988|Long ulna;HP:0002653|Bone pain;HP:0005930|Abnormality of epiphysis morphology;HP:0001373|Joint dislocation;HP:0009373|Type C brachydactyly;HP:0003067|Madelung deformity;HP:0002982|Tibial bowing;HP:0002829|Arthralgia;HP:0002996|Limited elbow movement;HP:0000112|Nephropathy;HP:0002986|Radial bowing;HP:0000925|Abnormality of the vertebral column;HP:0006248|Limited wrist movement;HP:0002984|Hypoplasia of the radius;HP:0002650|Scoliosis;HP:0002758|Osteoarthritis;HP:0003027|Mesomelia;HP:0009811|Abnormality of the elbow;HP:0001191|Abnormality of the carpal bones;HP:0100745|Abnormality of the humeroulnar joint;HP:0002983|Micromelia;HP:0002762|Multiple exostoses
3q29 microdeletion syndrome	HP:0001263|Global developmental delay;HP:0000568|Microphthalmia;HP:0000518|Cataract;HP:0003196|Short nose;HP:0001000|Abnormality of skin pigmentation;HP:0000218|High palate;HP:0000678|Dental crowding;HP:0000232|Everted lower lip vermilion;HP:0000767|Pectus excavatum;HP:0000750|Delayed speech and language development;HP:0000047|Hypospadias;HP:0000369|Low-set ears;HP:0000276|Long face;HP:0000426|Protruding bridge of nose;HP:0005692|Joint hyperflexibility;HP:0001643|Patent ductus arteriosus;HP:0000164|Abnormality of the teeth;HP:0000718|Aggressive behavior;HP:0000739|Anxiety;HP:0001249|Mental retardation;HP:0000494|Downslanted palpebral fissures;HP:0002020|Gastroesophageal reflux;HP:0000324|Facial asymmetry;HP:0001288|Gait disturbance;HP:0000256|Macrocephaly;HP:0000275|Narrow face;HP:0000252|Microcephaly;HP:0001182|Tapered finger;HP:0000709|Psychosis;HP:0001682|Subaortic stenosis;HP:0001508|Failure to thrive;HP:0007018|Attention deficit hyperactivity disorder;HP:0004209|Clinodactyly of the 5th finger;HP:0007302|Bipolar affective disorder;HP:0000085|Horseshoe kidney;HP:0001249|Intellectual disability;HP:0000202|Oral cleft;HP:0000322|Short philtrum;HP:0000717|Autism;HP:0008416|Six lumbar vertebrae;HP:0000426|Prominent nasal bridge;HP:0000400|Macrotia;HP:0000716|Depression;HP:0002092|Pulmonary arterial hypertension;HP:0000768|Pectus carinatum;HP:0001611|Nasal speech
hereditary orotic aciduria	HP:0001263|Global developmental delay;HP:0001744|Splenomegaly;HP:0001385|Hip dysplasia;HP:0008388|Abnormality of the toenails;HP:0002205|Recurrent respiratory infections;HP:0000316|Hypertelorism;HP:0003218|Oroticaciduria;HP:0000368|Low-set, posteriorly rotated ears;HP:0000069|Abnormality of the ureter;HP:0001643|Patent ductus arteriosus;HP:0003355|Aminoaciduria;HP:0000431|Wide nasal bridge;HP:0005435|Impaired T cell function;HP:0001903|Anemia;HP:0003526|Orotic acid crystalluria;HP:0000494|Downslanted palpebral fissures
blue rubber bleb nevus	HP:0000988|Skin rash;HP:0100026|Arteriovenous malformation;HP:0005244|Gastrointestinal infarctions;HP:0001928|Abnormality of coagulation;HP:0001048|Cavernous hemangioma;HP:0002653|Bone pain;HP:0003010|Prolonged bleeding time;HP:0002584|Intestinal bleeding;HP:0100761|Visceral angiomatosis;HP:0001482|Subcutaneous nodule;HP:0002580|Volvulus;HP:0002597|Abnormality of the vasculature;HP:0001935|Microcytic anemia
vein of galen aneurysm	HP:0002617|Aneurysm;HP:0100659|Abnormality of the cerebral vasculature;HP:0100784|Peripheral arteriovenous fistula
book syndrome	HP:0007410|Excessive sweating of palms and soles;HP:0000668|Failure of development of between one and six teeth;HP:0002216|Premature hair graying
laurin-sandrow syndrome	HP:0000028|Cryptorchidism;HP:0010689|Mirror image polydactyly;HP:0001770|Toe syndactyly;HP:0001376|Limitation of joint mobility;HP:0000366|Abnormality of the nose;HP:0001841|Preaxial foot polydactyly;HP:0006101|Finger syndactyly;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0008368|Tarsal synostosis;HP:0100524|Limb duplication;HP:0003974|Absent radius;HP:0003019|Abnormality of the wrist;HP:0000316|Hypertelorism;HP:0002714|Downturned corners of mouth;HP:0002000|Short columella;HP:0001177|Preaxial hand polydactyly;HP:0000457|Depressed nasal ridge;HP:0001163|Abnormality of the metacarpal bones;HP:0000448|Prominent nose;HP:0001249|Intellectual disability;HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0001883|Talipes;HP:0009556|Absent tibia;HP:0001199|Triphalangeal thumb;HP:0010503|Fibular duplication;HP:0001252|Muscular hypotonia;HP:0000238|Hydrocephalus;HP:0000430|Underdeveloped nasal alae
pulmonary atresia with ventricular septal defect	HP:0004935|Pulmonary atresia;HP:0001629|Ventricular septal defects
his bundle tachycardia	HP:0100544|Neoplasm of the heart;HP:0011675|Arrhythmia;HP:0011716|Junctional ectopic tachycardia;HP:0001638|Cardiomyopathy
spondyloepimetaphyseal dysplasia, irapa type	HP:0008873|Disproportionate short-limb short stature;HP:0010049|Metacarpal hypoplasia;HP:0006429|Broadening of femoral neck;HP:0003521|Disproportionate short-trunk short stature;HP:0005930|Abnormality of epiphysis morphology;HP:0001376|Limitation of joint mobility;HP:0100255|Metaphyseal dysplasia;HP:0000920|Enlarged costochondral junctions;HP:0002829|Arthralgia;HP:0008839|Hypoplastic pelvis;HP:0002938|Exaggerated lumbar lordosis;HP:0004279|Hypoplastic hands;HP:0004279|Short palm;HP:0000772|Abnormality of the ribs;HP:0001377|Restricted elbow extension;HP:0010049|Short metacarpal;HP:0001169|Wide palm;HP:0001288|Gait disturbance;HP:0001367|Abnormal joint morphology;HP:0000939|Osteoporosis;HP:0001241|Capitate-hamate fusions;HP:0002758|Osteoarthritis;HP:0000926|Platyspondyly;HP:0002857|Genu valgum;HP:0000926|Flattened vertebral bodies;HP:0001769|Broad foot;HP:0002515|Waddling gait;HP:0009824|Upper limb undergrowth;HP:0002812|Coxa vara;HP:0010743|Shortened metatarsals;HP:0002651|Spondyloepimetaphyseal dysplasia;HP:0005048|Synostosis of carpal bones;HP:0001191|Abnormality of the carpal bones;HP:0001763|Pes planus;HP:0009824|Hypoplasia involving bones of the upper limbs;HP:0010743|Short metatarsal;HP:0000768|Pectus carinatum;HP:0001169|Broad palm;HP:0000944|Abnormality of the metaphyses;HP:0002983|Micromelia;HP:0002829|Arthralgias
guttmacher syndrome	HP:0000807|Glandular hypospadias;HP:0001162|Postaxial polydactyly of fingers;HP:0001885|Short 2nd toe
syndactyly type 5	HP:0009701|Metacarpal synostosis;HP:0010554|Cutaneous syndactyly of hands;HP:0009473|Joint contracture of the hand;HP:0009702|Fused carpal bones;HP:0009779|Webbed 3rd-4th toes;HP:0004691|2-3 toe syndactyly;HP:0004692|Symmetric syndactyly, toes 4 and 5;HP:0005867|Fused 4th-5th metacarpals;HP:0100490|Camptodactyly of finger;HP:0006185|Enlarged innermost hinge joint;HP:0009882|Hypoplastic terminal phalanges;HP:0009465|Ulnar deviation of finger;HP:0001032|Aplasia of the distal interphalangeal creases;HP:0004209|Clinodactyly of the 5th finger;HP:0006097|3-4 finger syndactyly;HP:0001440|Synostosis involving metatarsal bones;HP:0001156|Brachydactyly;HP:0009882|Short distal phalanx of finger
trigger thumb	HP:0001172|Abnormality of the thumbs
3-methylglutaconic aciduria type 1	HP:0001263|Global developmental delay;HP:0001250|Seizures;HP:0001259|Coma;HP:0003535|3-Methylglutaconic aciduria;HP:0000252|Microcephaly;HP:0002134|Abnormality of the basal ganglia;HP:0001332|Dystonia;HP:0001943|Hypoglycemia;HP:0001508|Failure to thrive;HP:0002240|Hepatomegaly;HP:0002073|Progressive cerebellar ataxia;HP:0001285|Spastic tetraparesis;HP:0000750|Delayed speech and language development
coxopodopatellar syndrome	HP:0008784|Wide end part of innermost thighbone;HP:0001385|Hip dysplasia;HP:0003370|Flat capital femoral epiphyses;HP:0000218|Increased palatal height;HP:0008801|Hypoplasia of the lesser trochanter;HP:0000347|Hypoplasia of mandible;HP:0001852|Wide space between first and second toes;HP:0006498|Aplasia/Hypoplasia of the patella;HP:0001763|Pes planus;HP:0006443|Patellar aplasia;HP:0005930|Abnormality of epiphysis morphology;HP:0002999|Dislocated kneecap;HP:0000175|Palatoschisis;HP:0003065|Small patella;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0002815|Abnormality of the knee
cayler cardiofacial syndrome	HP:0001636|Tetrology of fallot;HP:0001629|Ventricular septal defects;HP:0011333|Asymmetric crying face;HP:0001643|Persistent ductus arteriosus
aplasia of lacrimal and salivary glands	HP:0000670|Dental caries;HP:0007732|Hypoplastic lacrimal gland;HP:0007656|Absent tear gland;HP:0001092|Lacrimal puncta aplasia;HP:0000217|Dry mouth syndrome
hyperprolinemia type 2	HP:0001250|Seizures;HP:0003137|Prolinuria;HP:0003080|Elevated urinary hydroxyproline;HP:0003108|High urine glycine levels;HP:0001249|Mental retardation;HP:0008358|Prolinemia
familial keratoacanthoma	HP:0009720|Adenoma sebaceum;HP:0012740|Papilloma;HP:0000962|Hyperkeratosis;HP:0002664|Neoplasm;HP:0000951|dermatopathy;HP:0001482|Subcutaneous nodule;HP:0200042|Skin ulcer;HP:0200034|Papule;HP:0002664|Neoplasia
mounier-kuhn syndrome	HP:0000924|Abnormality of the skeletal system;HP:0002110|Bronchiectasis;HP:0006509|Tracheal diverticulum;HP:0006538|Recurrent bronchopulmonary infections
fetal iodine deficiency disorder	HP:0001939|Laboratory abnormality;HP:0008251|Congenital goiter;HP:0000365|Hearing impairment;HP:0000851|Congenital hypothyroidism;HP:0001264|Spastic diplegia;HP:0001249|Mental retardation
hemifacial hyperplasia	HP:0000324|Asymmetry of face;HP:0000689|Misalignment of upper and lower dental arches;HP:0000327|Maxillary micrognathia
patent ductus venosus	HP:0012022|Congenital portosystemic venous shunt;HP:0012021|Persistent patent ductus venosus;HP:0001410|Decreased liver function;HP:0002480|Hepatic encephalopathy;HP:0001987|Hyperammonemia;HP:0001397|Hepatic steatosis;HP:0012024|Hypergalactosemia
abducens nerve disease	HP:0000486|Squint eyes;HP:0011349|Sixth nerve palsy
czech dysplasia	HP:0002945|Narrow intervertebral spaces;HP:0002515|Waddling gait;HP:0010049|Metacarpal hypoplasia;HP:0100864|Short femoral necks;HP:0001507|Abnormal growth;HP:0003370|Flat capital femoral epiphyses;HP:0001371|Flexion contractures of joints;HP:0002942|Thoracic kyphosis;HP:0010743|Shortened metatarsals;HP:0000926|Flattened vertebral bodies;HP:0002812|Coxa vara;HP:0001831|Short toes;HP:0002650|Scoliosis;HP:0008819|Narrow neck of thigh bone;HP:0002868|Narrow iliac wings;HP:0003301|vertebral endplate irregularity;HP:0002829|Arthralgias
5-alpha reductase deficiency	HP:0000051|Perineal hypospadias;HP:0000818|Abnormality of the endocrine system;HP:0000033|Ambiguous genitalia, male;HP:0001939|Laboratory abnormality;HP:0001595|Hair abnormality;HP:0001608|Voice abnormality;HP:0000054|Short penis;HP:0000048|Bifid scrotum
thrombocytopenia 2	HP:0001873|Low platelet count;HP:0000978|Bruisability
cerebral folate deficiency	HP:0001250|Seizures;HP:0002376|Loss of developmental milestones;HP:0001249|Mental retardation;HP:0002180|Neurodegeneration
hypochromic microcytic anemia with iron overload	HP:0001939|Laboratory abnormality;HP:0001903|Anemia;HP:0001392|Abnormality of the liver
ehlers-danlos syndrome progeroid type	HP:0000938|Decreased bone mineral density;HP:0000894|Short clavicles;HP:0002209|Scalp hair, thinning;HP:0010511|Increased length of toes;HP:0000256|Macrocrania;HP:0001166|Long, slender fingers;HP:0000954|Simian creases;HP:0004322|Stature below 3rd percentile;HP:0001252|Hypotonia;HP:0001263|Developmental retardation;HP:0007469|Palmoplantar cutis gyrata;HP:0001388|Joint laxity;HP:0002974|Fused forearm bones;HP:0000774|Low chest circumference;HP:0001508|Weight faltering;HP:0000431|Broad nasal root;HP:0011308|Slender toe;HP:0001075|Thin, atrophic scars;HP:0000520|Anterior bulging of the globe of eye;HP:0000160|Small mouth;HP:0001763|Pes planus;HP:0000193|Uvula bifida;HP:0000274|Hypoplasia of face;HP:0000387|Absent earlobe;HP:0002673|Coxa valga
dysspondyloenchondromatosis	HP:0004322|Short stature;HP:0001373|Joint dislocation;HP:0003037|Enlarged joints;HP:0002657|Spondylometaphyseal dysplasia;HP:0012221|Pretibial blistering;HP:0002751|Kyphoscoliosis;HP:0002650|Scoliosis;HP:0002991|Abnormality of the fibula;HP:0004039|Abnormality of ulnar metaphysis;HP:0005701|Multiple enchondromatosis;HP:0002514|Cerebral calcification;HP:0002758|Osteoarthritis;HP:0000926|Platyspondyly;HP:0002857|Genu valgum;HP:0200041|Skin erosion;HP:0001249|Intellectual disability;HP:0002761|Generalized joint laxity;HP:0003422|Vertebral segmentation defect;HP:0100777|Exostoses;HP:0002750|Delayed skeletal maturation;HP:0005868|Metaphyseal enchondromatosis;HP:0100559|Lower limb asymmetry;HP:0002879|Anisospondyly
17p13.3 microduplication syndrome	HP:0001263|Global developmental delay;HP:0000160|Narrow mouth;HP:0000470|Short neck;HP:0000098|Tall stature;HP:0001374|Congenital hip dislocation;HP:0002007|Frontal bossing;HP:0000348|High forehead;HP:0002079|Hypoplasia of the corpus callosum;HP:0000369|Low-set ears;HP:0000445|Wide nose;HP:0003196|Short nose;HP:0002119|Ventriculomegaly;HP:0000316|Hypertelorism;HP:0000218|High palate;HP:0001252|Muscular hypotonia;HP:0004209|Clinodactyly of the 5th finger;HP:0000023|Inguinal hernia;HP:0008736|Hypoplasia of penis;HP:0000494|Downslanted palpebral fissures
16q24.3 microdeletion syndrome	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0002079|Hypoplasia of the corpus callosum;HP:0002553|Highly arched eyebrow;HP:0000307|Pointed chin;HP:0002015|Dysphagia;HP:0001629|Ventricular septal defect;HP:0000545|Myopia;HP:0002119|Ventriculomegaly;HP:0000365|Hearing impairment;HP:0010720|Abnormal hair pattern;HP:0001644|Dilated cardiomyopathy;HP:0000218|High palate;HP:0006315|Single median maxillary incisor;HP:0000750|Delayed speech and language development;HP:0000582|Upslanted palpebral fissure;HP:0000347|Micrognathia;HP:0001653|Mitral regurgitation;HP:0000154|Wide mouth;HP:0001873|Thrombocytopenia;HP:0002007|Frontal bossing;HP:0002342|Intellectual disability, moderate;HP:0000276|Long face;HP:0000486|Strabismus;HP:0005518|Increased mean corpuscular volume;HP:0000343|Long philtrum;HP:0012471|Thick vermilion border;HP:0000384|Preauricular skin tag;HP:0011968|Feeding difficulties;HP:0001250|Seizures;HP:0002650|Scoliosis;HP:0000319|Smooth philtrum;HP:0000389|Chronic otitis media;HP:0000483|Astigmatism;HP:0002808|Kyphosis;HP:0009623|Proximal placement of thumb;HP:0000609|Optic nerve hypoplasia;HP:0000717|Autism;HP:0000411|Protruding ear;HP:0001385|Hip dysplasia;HP:0000505|Visual impairment;HP:0000348|High forehead;HP:0000463|Anteverted nares;HP:0004422|Biparietal narrowing;HP:0000325|Triangular face;HP:0007165|Periventricular gray matter heterotopia;HP:0030048|Colpocephaly
joubert syndrome with oculorenal defect	HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0002553|Highly arched eyebrow;HP:0001320|Cerebellar vermis hypoplasia;HP:0002789|Tachypnea;HP:0002251|Aganglionic megacolon;HP:0000508|Ptosis;HP:0000083|Renal insufficiency;HP:0002269|Abnormality of neuronal migration;HP:0001251|Ataxia;HP:0000618|Blindness;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0002564|Malformation of the heart and great vessels;HP:0000276|Long face;HP:0000486|Strabismus;HP:0000112|Nephropathy;HP:0001829|Foot polydactyly;HP:0000612|Iris coloboma;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0000729|Autistic behavior;HP:0002650|Scoliosis;HP:0001249|Intellectual disability;HP:0000556|Retinal dystrophy;HP:0000426|Prominent nasal bridge;HP:0000567|Chorioretinal coloboma;HP:0000864|Abnormality of the hypothalamus-pituitary axis;HP:0000505|Visual impairment;HP:0000463|Anteverted nares;HP:0004422|Biparietal narrowing;HP:0000368|Low-set, posteriorly rotated ears;HP:0002084|Encephalocele;HP:0001161|Hand polydactyly;HP:0001252|Muscular hypotonia;HP:0000238|Hydrocephalus;HP:0002104|Apnea;HP:0002419|Molar tooth sign on MRI
idiopathic achalasia	HP:0002571|Achalasia
iatrogenic botulism	HP:0002094|Dyspnea;HP:0011499|Mydriasis;HP:0000016|Urinary retention;HP:0001324|Muscle weakness;HP:0002015|Dysphagia;HP:0001278|Orthostatic hypotension;HP:0012378|Fatigue;HP:0100021|Cerebral palsy;HP:0002019|Constipation;HP:0006824|Cranial nerve paralysis;HP:0006597|Diaphragmatic paralysis;HP:0000217|Xerostomia;HP:0000508|Ptosis
3mc syndrome	HP:0002265|Large fleshy ears;HP:0000581|Blepharophimosis;HP:0000365|Hearing impairment;HP:0005105|Abnormal nasal morphology;HP:0008897|Postnatal growth retardation;HP:0001540|Diastasis recti;HP:0000508|Ptosis;HP:0000537|Epicanthus inversus;HP:0002825|Caudal appendage;HP:0000506|Telecanthus;HP:0001537|Umbilical hernia;HP:0003307|Hyperlordosis;HP:0002558|Supernumerary nipple;HP:0000369|Low-set ears;HP:0003298|Spina bifida occulta;HP:0000316|Hypertelorism;HP:0002714|Downturned corners of mouth;HP:0000494|Downslanted palpebral fissures;HP:0040016|Prominent coccyx;HP:0000593|Abnormality of the anterior chamber;HP:0002650|Scoliosis;HP:0008689|Bilateral cryptorchidism;HP:0001249|Intellectual disability;HP:0000202|Oral cleft;HP:0002974|Radioulnar synostosis;HP:0001363|Craniosynostosis;HP:0002827|Hip dislocation;HP:0006394|Limited pronation/supination of forearm;HP:0000377|Abnormality of the pinna
3q29 microduplication	HP:0001263|Global developmental delay;HP:0000470|Short neck;HP:0000568|Microphthalmia;HP:0000518|Cataract;HP:0000239|Large fontanelles;HP:0000647|Sclerocornea;HP:0001629|Ventricular septal defect;HP:0000365|Hearing impairment;HP:0001770|Toe syndactyly;HP:0000218|High palate;HP:0000369|Low-set ears;HP:0001852|Sandal gap;HP:0000164|Abnormality of the teeth;HP:0000612|Iris coloboma;HP:0000494|Downslanted palpebral fissures;HP:0001250|Seizures;HP:0000175|Cleft palate;HP:0000256|Macrocephaly;HP:0001836|Camptodactyly of toe;HP:0000252|Microcephaly;HP:0000431|Wide nasal bridge;HP:0001249|Intellectual disability;HP:0001363|Craniosynostosis;HP:0001513|Obesity;HP:0000348|High forehead;HP:0000526|Aniridia;HP:0004422|Biparietal narrowing;HP:0001252|Muscular hypotonia;HP:0002002|Deep philtrum;HP:0004397|Ectopic anus
multiple endocrine neoplasia type 4	HP:0004398|Peptic ulcer;HP:0000843|Hyperparathyroidism;HP:0000818|Abnormality of the endocrine system;HP:0010788|Testicular neoplasm;HP:0003165|Elevated circulating parathyroid hormone level;HP:0008208|Parathyroid hyperplasia;HP:0000845|Growth hormone excess;HP:0000825|Hyperinsulinemic hypoglycemia;HP:0010615|Angiofibromas;HP:0011761|Pituitary null cell adenoma;HP:0030445|Pulmonary carcinoid tumor;HP:0012197|Insulinoma;HP:0010783|Erythema;HP:0100634|Neuroendocrine neoplasm;HP:0001031|Subcutaneous lipoma;HP:0012030|Increased urinary cortisol level;HP:0002044|Zollinger-Ellison syndrome;HP:0030688|Increased glucagon level;HP:0002014|Diarrhea;HP:0030079|Cervix cancer;HP:0012334|Extrahepatic cholestasis;HP:0002574|Episodic abdominal pain;HP:0100570|Carcinoid tumor;HP:0008283|Fasting hyperinsulinemia;HP:0006767|Pituitary prolactin cell adenoma;HP:0007449|Confetti-like hypopigmented macules;HP:0008291|Pituitary corticotropic cell adenoma;HP:0008256|Adrenocortical adenoma;HP:0011760|Pituitary growth hormone cell adenoma;HP:0002893|Pituitary adenoma;HP:0100522|Thymoma;HP:0012091|Abnormality of pancreas physiology;HP:0100633|Esophagitis;HP:0001578|Hypercortisolism;HP:0003072|Hypercalcemia;HP:0006780|Parathyroid carcinoma;HP:0000854|Thyroid adenoma;HP:0006772|Renal angiomyolipoma;HP:0002897|Parathyroid adenoma
spinocerebellar ataxia type 11	HP:0000666|Horizontal nystagmus;HP:0002015|Dysphagia;HP:0007256|Abnormal pyramidal signs;HP:0002141|Gait imbalance;HP:0009830|Peripheral neuropathy;HP:0001332|Dystonia;HP:0002355|Difficulty walking;HP:0002073|Progressive cerebellar ataxia;HP:0010544|Vertical nystagmus;HP:0008003|Jerky ocular pursuit movements;HP:0001260|Dysarthria
dend syndrome	HP:0001250|Seizures;HP:0009894|Thickened ears;HP:0040025|Clinodactyly of the 4th finger;HP:0002013|Vomiting;HP:0005487|Prominent metopic ridge;HP:0001324|Muscle weakness;HP:0003196|Short nose;HP:0003074|Hyperglycemia;HP:0011342|Mild global developmental delay;HP:0000463|Anteverted nares;HP:0009830|Peripheral neuropathy;HP:0000343|Long philtrum;HP:0008936|Muscular hypotonia of the trunk;HP:0040217|Elevated hemoglobin A1c;HP:0001488|Bilateral ptosis;HP:0001944|Dehydration;HP:0002521|Hypsarrhythmia;HP:0030057|Autoimmune antibody positivity;HP:0002714|Downturned corners of mouth
congenital adrenal hyperplasia due to cytochrome p450 oxidoreductase deficiency	HP:0000028|Cryptorchidism;HP:0001061|Acne;HP:0011800|Midface retrusion;HP:0000037|Male pseudohermaphroditism;HP:0030014|Female sexual dysfunction;HP:0000033|Ambiguous genitalia, male;HP:0008226|Androgen insufficiency;HP:0004322|Short stature;HP:0100879|Enlarged ovaries;HP:0000452|Choanal stenosis;HP:0000453|Choanal atresia;HP:0001166|Arachnodactyly;HP:0008734|Decreased testicular size;HP:0030348|Increased circulating androgen level;HP:0040171|Decreased serum testosterone level;HP:0008730|Female external genitalia in individual with 46,XY karyotype;HP:0012244|Abnormal sex determination;HP:0008072|Maternal virilization in pregnancy;HP:0008163|Decreased circulating cortisol level;HP:0000047|Hypospadias;HP:0000051|Perineal hypospadias;HP:0001371|Flexion contracture;HP:0000098|Tall stature;HP:0000369|Low-set ears;HP:0000822|Hypertension;HP:0030349|Decreased circulating androgen level;HP:0030084|Clinodactyly;HP:0000140|Abnormality of the menstrual cycle;HP:0000062|Ambiguous genitalia;HP:0000147|Polycystic ovaries;HP:0012412|Premature adrenarche;HP:0000048|Bifid scrotum;HP:0007440|Generalized hyperpigmentation;HP:0000840|Adrenogenital syndrome;HP:0003154|Increased circulating ACTH level;HP:0000138|Ovarian cyst;HP:0000868|Decreased fertility in females;HP:0000057|Clitoromegaly;HP:0000061|Ambiguous genitalia, female;HP:0000447|Pear-shaped nose;HP:0000939|Osteoporosis;HP:0008187|Absence of secondary sex characteristics;HP:0011749|Adrenocorticotropic hormone excess;HP:0000823|Delayed puberty;HP:0005616|Accelerated skeletal maturation;HP:0030258|Hyperpigmented genitalia;HP:0002616|Aortic root dilatation;HP:0001197|Abnormality of prenatal development or birth;HP:0008675|Enlarged polycystic ovaries;HP:0011742|Ectopic adrenal gland;HP:0000142|Abnormality of the vagina;HP:0001363|Craniosynostosis;HP:0012881|Abnormality of the labia majora;HP:0030088|Increased serum testosterone level;HP:0008726|Hypoplasia of the vagina;HP:0002750|Delayed skeletal maturation;HP:0001007|Hirsutism;HP:0100779|Urogenital sinus anomaly;HP:0008258|Congenital adrenal hyperplasia;HP:0008207|Primary adrenal insufficiency;HP:0008214|Decreased serum estradiol;HP:0012041|Decreased fertility in males;HP:0004349|Reduced bone mineral density;HP:0000054|Micropenis;HP:0000144|Decreased fertility
brachydactyly type d	HP:0005627|Type D brachydactyly;HP:0009642|Wide distal phalanx of thumb;HP:0010077|Wide outermost bone of big toe
congenital malabsorptive diarrhea due to paucity of enteroendocrine cells	HP:0004918|Hyperchloremic metabolic acidosis;HP:0002013|Emesis;HP:0001508|Weight faltering;HP:0002014|Diarrhea;HP:0001944|Dehydration
combined deficiency of factor v and factor viii	HP:0003125|Reduced factor VIII activity;HP:0001892|Bleeding diathesis;HP:0003225|Reduced factor V activity
acro-fronto-facio-nasal dysostosis	HP:0008807|Dysplastic acetabulae;HP:0000767|Funnel chest;HP:0000677|Failure of development of more than six teeth;HP:0010049|Metacarpal hypoplasia;HP:0000349|Hairline point;HP:0007835|S-shaped opening between the eyelids;HP:0000248|Brachycephaly;HP:0000316|Increased distance between eye sockets;HP:0009882|Hypoplastic terminal phalanges;HP:0000527|Long eyelashes;HP:0001792|Hypoplastic nails;HP:0000648|Optic-nerve degeneration;HP:0001089|Iris atrophy;HP:0004322|Stature below 3rd percentile;HP:0000410|Hearing loss, mixed;HP:0000204|Cleft upper lip;HP:0000175|Palatoschisis;HP:0004523|Elongated eyebrow;HP:0001249|Mental retardation;HP:0001250|Seizures;HP:0000154|Large mouth;HP:0000431|Broad nasal root;HP:0000337|Increased bitemporal dimension;HP:0011304|Wide/broad thumb;HP:0000303|Increased size of lower jaw;HP:0000272|Depressed malar region;HP:0000568|Abnormally small globe of eye;HP:0000508|Drooping upper eyelid
cystic leukoencephalopathy without megalencephaly	HP:0000750|Late-onset speech development;HP:0000639|Nystagmus;HP:0001257|Spasticity;HP:0001250|Seizures;HP:0011400|Abnormal CNS myelination;HP:0000252|Small head circumference;HP:0001251|Ataxia;HP:0000295|Doll-like facies;HP:0002514|Intracranial calcifications;HP:0000407|sensorineural hearing loss;HP:0002119|Ventricular dilatation;HP:0001332|Dystonia;HP:0011344|Severe global developmental delay;HP:0002305|Involuntary writhing movements;HP:0007042|Focal white matter lesions;HP:0002465|Poor speech;HP:0002352|Leukoencephalopathy
17-@beta hydroxysteroid dehydrogenase iii deficiency	HP:0001939|Laboratory abnormality;HP:0000821|Underactive thyroid;HP:0000771|Gynaecomastia;HP:0000037|Male pseudohermaphroditism;HP:0000789|Infertility
familial atypical mole-malignant melanoma syndrome	HP:0012056|Cutaneous melanoma;HP:0001062|Atypical nevus;HP:0000478|Abnormal eye;HP:0001074|Atypical nevi in non-sun exposed areas;HP:0001054|Numerous nevi;HP:0007716|Intraocular melanoma
ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant	HP:0002059|Degeneration of cerebrum;HP:0002074|Increased neuronal autofluorescent lipopigment;HP:0002384|Dyscognitive seizures;HP:0000711|Restlessness;HP:0001268|Mental deterioration;HP:0001272|Cerebellar atrophy;HP:0002312|Clumsiness;HP:0002353|Abnormal EEG;HP:0000737|Irritability;HP:0003205|'curvilinear profiles' ultrastructurally;HP:0002069|Generalized tonic clonic seizures;HP:0001249|Mental retardation
myopathy, spheroid body	HP:0003198|Myopathic changes;HP:0002515|Waddling gait;HP:0003701|Proximal limb muscle weakness;HP:0001611|Hypernasal speech;HP:0003236|Elevated creatine kinase;HP:0003202|Neurogenic muscle atrophy, especially in the lower limbs;HP:0003438|Absent Achilles reflex;HP:0002136|Wide-based gait;HP:0002460|Weakness of distal muscles;HP:0007126|Proximal amyotrophy;HP:0002015|Swallowing difficulty;HP:0003722|Neck flexor muscle weakness
episodic ataxia, type 2	HP:0003401|Paresthesia;HP:0002076|Migraine headaches;HP:0010545|Downbeat nystagmus;HP:0000640|Gaze-evoked nystagmus;HP:0006855|Atrophy of the cerebellar vermis;HP:0002073|Cerebellar ataxia, progressive;HP:0002321|Vertigo;HP:0001332|Dystonia;HP:0001324|Muscular weakness;HP:0000651|Diplopia;HP:0001260|Dysarthric speech;HP:0002486|Myotonia;HP:0000360|Ringing in the ears;HP:0001751|Vestibular dysfunction;HP:0002131|Intermittent cerebellar ataxia;HP:0001152|Saccadic pursuit movements
emanuel syndrome	HP:0001263|Global developmental delay;HP:0000028|Cryptorchidism;HP:0001274|Agenesis of corpus callosum;HP:0001650|Aortic valve stenosis;HP:0009101|Submucous cleft lip;HP:0002023|Anal atresia;HP:0009765|Low hanging columella;HP:0000692|Misalignment of teeth;HP:0002015|Dysphagia;HP:0000545|Myopia;HP:0001629|Ventricular septal defect;HP:0000365|Hearing impairment;HP:0002019|Constipation;HP:0001562|Oligohydramnios;HP:0002119|Ventriculomegaly;HP:0012714|Severe hearing impairment;HP:0000218|High palate;HP:0000678|Dental crowding;HP:0001290|Generalized hypotonia;HP:0005989|Redundant neck skin;HP:0000508|Ptosis;HP:0001631|Atrial septal defect;HP:0000135|Hypogonadism;HP:0000750|Delayed speech and language development;HP:0002205|Recurrent respiratory infections;HP:0000490|Deeply set eye;HP:0000582|Upslanted palpebral fissure;HP:0000347|Micrognathia;HP:0001374|Congenital hip dislocation;HP:0000369|Low-set ears;HP:0000122|Unilateral renal agenesis;HP:0000486|Strabismus;HP:0000193|Bifid uvula;HP:0000343|Long philtrum;HP:0000960|Sacral dimple;HP:0000684|Delayed eruption of teeth;HP:0004467|Preauricular pit;HP:0005815|Supernumerary ribs;HP:0001511|Intrauterine growth retardation;HP:0001643|Patent ductus arteriosus;HP:0002308|Arnold-Chiari malformation;HP:0002828|Multiple joint contractures;HP:0001642|Pulmonic stenosis;HP:0002719|Recurrent infections;HP:0000384|Preauricular skin tag;HP:0011968|Feeding difficulties;HP:0001510|Growth delay;HP:0000540|Hypermetropia;HP:0002020|Gastroesophageal reflux;HP:0001250|Seizures;HP:0002059|Cerebral atrophy;HP:0001660|Truncus arteriosus;HP:0002751|Kyphoscoliosis;HP:0000175|Cleft palate;HP:0012802|Broad jaw;HP:0000403|Recurrent otitis media;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0005401|Recurrent candida infections;HP:0000483|Astigmatism;HP:0001622|Premature birth;HP:0001508|Failure to thrive;HP:0000089|Renal hypoplasia;HP:0012735|Cough;HP:0000023|Inguinal hernia;HP:0001305|Dandy-Walker malformation;HP:0001249|Intellectual disability;HP:0003028|Abnormality of the ankles;HP:0001195|Single umbilical artery;HP:0001558|Decreased fetal movement;HP:0001623|Breech presentation;HP:0000789|Infertility;HP:0002562|Low-set nipples;HP:0000400|Macrotia;HP:0030820|Hooded eyelid;HP:0002500|Abnormality of the cerebral white matter;HP:0000054|Micropenis;HP:0000238|Hydrocephalus;HP:0004397|Ectopic anus;HP:0000776|Congenital diaphragmatic hernia
bazex syndrome	HP:0000962|Hyperkeratosis;HP:0012034|Liposarcoma;HP:0008404|Nail dystrophy;HP:0002664|Neoplasm;HP:0011367|Yellow nails;HP:0040189|Scaling skin;HP:0001036|Parakeratosis;HP:0001903|Anemia;HP:0000989|Pruritus;HP:0100816|Lip hyperpigmentation;HP:0030078|Lung adenocarcinoma;HP:0000956|Acanthosis nigricans;HP:0008066|Abnormal blistering of the skin;HP:0000982|Palmoplantar keratoderma;HP:0000969|Edema
hyperparathyroidism, neonatal severe primary	HP:0003109|Hyperphosphaturia;HP:0002240|Enlarged liver;HP:0002094|Dyspnea;HP:0002789|Increased respiratory rate or depth of breathing;HP:0002019|Dyschezia;HP:0003025|Frayed, irregular metaphyses;HP:0002150|Hypercalcinuria;HP:0008200|Primary hyperparathyroidism;HP:0001903|Anemia;HP:0008872|Feeding difficulties in infancy;HP:0001252|Hypotonia;HP:0000103|Polyuria;HP:0003355|Aminoaciduria;HP:0000774|Low chest circumference;HP:0002757|Multiple fractures;HP:0001508|Weight faltering;HP:0001959|Polydipsia;HP:0003165|Elevated circulating PTH level;HP:0002148|Hypophosphataemia;HP:0001744|Splenomegaly;HP:0003072|Hypercalcemia;HP:0003761|Calcinosis
arthrogryposis, distal, type 2b	HP:0005684|Distal arthrogryposis;HP:0000465|Pterygium colli;HP:0001848|Calcaneovalgus Foot;HP:0000598|Ear anomaly;HP:0000347|Hypoplasia of mandible;HP:0001840|Forefoot varus;HP:0001838|Rocker bottom foot;HP:0000343|Vertical hyperplasia of philtrum;HP:0004322|Stature below 3rd percentile;HP:0001762|Talipes equinovarus;HP:0003049|Ulnar deviation of wrists;HP:0002804|Arthrogryposis multiplex congenita;HP:0000218|Increased palatal height;HP:0006109|Absent interphalangeal creases;HP:0002650|Scoliosis;HP:0000431|Broad nasal root;HP:0000303|Increased size of lower jaw;HP:0005272|Prominent nasolabial fold;HP:0000160|Small mouth;HP:0000325|Triangular face;HP:0100490|Camptodactyly of finger;HP:0000494|Downward slanting palpebral fissures;HP:0001193|Ulnar deviation of the hand or of fingers of the hand
cystic angiomatosis of bone, diffuse	HP:0002833|Cystic angiomatosis of bone
emery-dreifuss muscular dystrophy 1, x-linked	HP:0004631|Contracture of post-cervical muscles;HP:0002515|Waddling gait;HP:0000767|Funnel chest;HP:0002987|Elbow contracture;HP:0001771|Tight achilles tendon;HP:0001645|Sudden cardiac death;HP:0003236|Elevated creatine kinase;HP:0011807|Type 1 muscle fiber atrophy;HP:0000464|Anomaly of the neck;HP:0001692|Primary atrial arrhythmia;HP:0001678|Atrioventricular block
duchenne and becker muscular dystrophy	HP:0001256|Intellectual disability, mild;HP:0003100|Slender long bone;HP:0001288|Gait disturbance;HP:0003236|Elevated serum creatine phosphokinase;HP:0001387|Joint stiffness;HP:0003307|Hyperlordosis;HP:0002650|Scoliosis;HP:0003457|EMG abnormality;HP:0003198|Myopathy;HP:0001639|Hypertrophic cardiomyopathy;HP:0002376|Developmental regression;HP:0004349|Reduced bone mineral density;HP:0003202|Skeletal muscle atrophy
peho syndrome	HP:0001263|Global developmental delay;HP:0010864|Intellectual disability, severe;HP:0011800|Midface retrusion;HP:0012469|Infantile spasms;HP:0012398|Peripheral edema;HP:0000496|Abnormality of eye movement;HP:0003196|Short nose;HP:0002119|Ventriculomegaly;HP:0002132|Porencephaly;HP:0000572|Visual loss;HP:0001376|Limitation of joint mobility;HP:0002329|Drowsiness;HP:0007366|Atrophy/Degeneration affecting the brainstem;HP:0002205|Recurrent respiratory infections;HP:0001371|Flexion contracture;HP:0000177|Abnormality of upper lip;HP:0002120|Cerebral cortical atrophy;HP:0002521|Hypsarrhythmia;HP:0000194|Open mouth;HP:0002804|Arthrogryposis multiplex congenita;HP:0011968|Feeding difficulties;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0010741|Edema of the lower limbs;HP:0000293|Full cheeks;HP:0000252|Microcephaly;HP:0100022|Abnormality of movement;HP:0001182|Tapered finger;HP:0000272|Malar flattening;HP:0000648|Optic atrophy;HP:0006829|Severe muscular hypotonia;HP:0001347|Hyperreflexia;HP:0000463|Anteverted nares;HP:0001272|Cerebellar atrophy;HP:0004422|Biparietal narrowing;HP:0000400|Macrotia;HP:0000212|Gingival overgrowth;HP:0000174|Abnormality of the palate;HP:0008572|External ear malformation;HP:0000238|Hydrocephalus;HP:0100540|Palpebral edema
brachydactyly type e	HP:0000256|Macrocephaly;HP:0002007|Frontal bossing;HP:0010076|Aplasia/Hypoplasia of the distal phalanx of the hallux;HP:0004322|Short stature;HP:0005692|Joint hyperflexibility;HP:0005863|Type E brachydactyly;HP:0010743|Short metatarsal;HP:0100560|Upper limb asymmetry;HP:0010049|Short metacarpal;HP:0009882|Short distal phalanx of finger
systemic-onset juvenile idiopathic arthritis	HP:0000988|Skin rash;HP:0002829|Arthralgia;HP:0002716|Lymphadenopathy;HP:0001744|Splenomegaly;HP:0003565|Elevated erythrocyte sedimentation rate;HP:0002202|Pleural effusion;HP:0012122|Anterior uveitis;HP:0005681|Juvenile rheumatoid arthritis;HP:0001386|Joint swelling;HP:0002027|Abdominal pain;HP:0002960|Autoimmunity;HP:0011227|Elevated C-reactive protein level;HP:0001945|Fever;HP:0002240|Hepatomegaly;HP:0001701|Pericarditis
hairy elbows	HP:0004780|Hypertrichosis cubiti;HP:0004322|Stature below 3rd percentile
becker nevus syndrome	HP:0000064|Hypoplastic labia minora;HP:0003724|Shoulder girdle muscle atrophy;HP:0002983|Micromelia;HP:0010566|Hamartoma;HP:0100560|Upper limb asymmetry;HP:0002558|Supernumerary nipple;HP:0002650|Scoliosis;HP:0003298|Spina bifida occulta;HP:0001034|Hypermelanotic macule;HP:0002808|Kyphosis;HP:0002992|Abnormality of the tibia;HP:0005815|Supernumerary ribs;HP:0010311|Aplasia/Hypoplasia of the breasts;HP:0100559|Lower limb asymmetry;HP:0000902|Rib fusion;HP:0000768|Pectus carinatum;HP:0000767|Pectus excavatum;HP:0003764|Naevus;HP:0100578|Lipoatrophy;HP:0000045|Abnormality of the scrotum
melorheostosis with osteopoikilosis	HP:0001012|Multiple lipomas;HP:0003103|Abnormal cortical bone morphology;HP:0000951|Abnormality of the skin;HP:0000822|Hypertension;HP:0001482|Subcutaneous nodule;HP:0010739|Osteopoikilosis;HP:0010001|Complete duplication of the distal phalanges of the hand
acquired angioedema	HP:0001025|Urticaria;HP:0005225|Intestinal edema;HP:0005214|Intestinal obstruction;HP:0002027|Abdominal pain;HP:0012027|Laryngeal edema;HP:0000282|Facial edema;HP:0100665|Angiooedema;HP:0100665|Angioedema;HP:0001541|Ascites;HP:0000969|Edema
ectodermal dysplasia/skin fragility syndrome	HP:0000968|Ectodermal dysplasia;HP:0001030|Fragile skin
phosphoribosylpyrophosphate synthetase superactivity	HP:0001997|Gout;HP:0001252|Hypotonia;HP:0000791|Uric acid nephrolithiasis;HP:0001251|Ataxia;HP:0000407|sensorineural hearing loss;HP:0003149|High urine uric acid level;HP:0001270|Motor retardation;HP:0001249|Mental retardation;HP:0000083|Renal insufficiency
progressive cone dystrophy	HP:0000505|Visual impairment;HP:0007703|Abnormality of retinal pigmentation;HP:0000551|Abnormality of color vision;HP:0000512|Abnormal electroretinogram;HP:0000613|Photophobia
trisomy 20p	HP:0000028|Cryptorchidism;HP:0001357|Plagiocephaly;HP:0000470|Short neck;HP:0005562|Multiple renal cysts;HP:0100874|Thick hair;HP:0002553|Highly arched eyebrow;HP:0000581|Blepharophimosis;HP:0003196|Short nose;HP:0100543|Cognitive impairment;HP:0000248|Brachycephaly;HP:0000233|Thin vermilion border;HP:0002311|Incoordination;HP:0000232|Everted lower lip vermilion;HP:0001156|Brachydactyly syndrome;HP:0000047|Hypospadias;HP:0000582|Upslanted palpebral fissure;HP:0000347|Micrognathia;HP:0006101|Finger syndactyly;HP:0002007|Frontal bossing;HP:0001537|Umbilical hernia;HP:0000126|Hydronephrosis;HP:0002564|Malformation of the heart and great vessels;HP:0000486|Strabismus;HP:0002167|Neurological speech impairment;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0002271|Autonomic dysregulation;HP:0000069|Abnormality of the ureter;HP:0000164|Abnormality of the teeth;HP:0000574|Thick eyebrow;HP:0002714|Downturned corners of mouth;HP:0002208|Coarse hair;HP:0002414|Spina bifida;HP:0000494|Downslanted palpebral fissures;HP:0002916|Abnormality of chromosome segregation;HP:0000286|Epicanthus;HP:0001177|Preaxial hand polydactyly;HP:0003312|Abnormal form of the vertebral bodies;HP:0001288|Gait disturbance;HP:0009738|Abnormality of the antihelix;HP:0000077|Abnormality of the kidney;HP:0000293|Full cheeks;HP:0000294|Low anterior hairline;HP:0002650|Scoliosis;HP:0000319|Smooth philtrum;HP:0003272|Abnormality of the hip bone;HP:0001999|Abnormal facial shape;HP:0002808|Kyphosis;HP:0000926|Platyspondyly;HP:0000268|Dolichocephaly;HP:0000311|Round face;HP:0000023|Inguinal hernia;HP:0001760|Abnormality of the foot;HP:0006610|Wide intermamillary distance;HP:0000322|Short philtrum;HP:0000053|Macroorchidism;HP:0002162|Low posterior hairline;HP:0000411|Protruding ear;HP:0000691|Microdontia;HP:0001883|Talipes;HP:0003422|Vertebral segmentation defect;HP:0100542|Abnormal localization of kidney;HP:0000463|Anteverted nares;HP:0000400|Macrotia;HP:0000368|Low-set, posteriorly rotated ears;HP:0100490|Camptodactyly of finger;HP:0100790|Hernia;HP:0000174|Abnormality of the palate;HP:0001252|Muscular hypotonia;HP:0004349|Reduced bone mineral density;HP:0004397|Ectopic anus
homozygous familial hypercholesterolemia	HP:0003141|Hyperbetalipoproteinemia;HP:0002094|Dyspnea;HP:0012373|Abnormal eye physiology;HP:0005177|Premature arteriosclerosis;HP:0004416|Precocious atherosclerosis;HP:0004928|Peripheral arterial stenosis;HP:0005181|Premature coronary artery disease;HP:0000799|Renal steatosis;HP:0003124|Hypercholesterolemia;HP:0004381|Supravalvular aortic stenosis;HP:0030148|Heart murmur;HP:0012638|Abnormality of nervous system physiology;HP:0005162|Left ventricular failure;HP:3000062|Abnormality of internal carotid artery;HP:0002829|Arthralgia;HP:0001653|Mitral regurgitation;HP:0001920|Renal artery stenosis;HP:0000822|Hypertension;HP:0012397|Aortic atherosclerosis;HP:0007201|Cerebral artery atherosclerosis;HP:0001681|Angina pectoris;HP:0001658|Myocardial infarction;HP:0003077|Hyperlipidemia;HP:0000991|Xanthomatosis;HP:0001397|Hepatic steatosis;HP:0030882|Coronary artery dilation;HP:0001645|Sudden cardiac death;HP:0100261|Abnormal tendon morphology;HP:0010874|Tendon xanthomatosis;HP:0004929|Coronary atherosclerosis;HP:0004963|Calcification of the aorta;HP:0001138|Optic neuropathy;HP:0006693|Myocardial steatosis
lambert syndrome	HP:0001629|Ventricular septal defect;HP:0000047|Hypospadias;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0005248|Intrahepatic atresia of biliary duct;HP:0000154|Wide mouth;HP:0001762|Talipes equinovarus;HP:0001531|Failure to thrive in infancy;HP:0004313|Decreased antibody level in blood;HP:0009794|Branchial anomaly;HP:0001511|Intrauterine growth retardation;HP:0000952|Jaundice;HP:0000384|Preauricular skin tag;HP:0001249|Mental retardation;HP:0005248|Intrahepatic biliary atresia;HP:0001396|Cholestasis;HP:0000154|Large mouth;HP:0000272|Malar flattening;HP:0000023|Inguinal hernia;HP:0001249|Intellectual disability;HP:0000952|Yellow skin;HP:0000272|Depressed malar region;HP:0001252|Muscular hypotonia
ackerman syndrome	HP:0000501|Glaucoma;HP:0000289|Broad philtrum;HP:0000679|Taurodont
hereditary sensory and autonomic neuropathy type 2	HP:0008391|Dystrophic fingernails;HP:0001810|Dystrophic toenail;HP:0000975|Hyperhidrosis;HP:0003307|Hyperlordosis;HP:0003028|Abnormality of the ankles;HP:0003103|Abnormal cortical bone morphology;HP:0001182|Tapered finger;HP:0003272|Abnormality of the hip bone;HP:0001842|Acroosteolysis (feet);HP:0005930|Abnormality of epiphysis morphology;HP:0004349|Reduced bone mineral density;HP:0002645|Wormian bones;HP:0002797|Osteolysis;HP:0003202|Skeletal muscle atrophy;HP:0002815|Abnormality of the knee
renal agenesis, bilateral	HP:0001563|Fetal polyuria;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0005107|Abnormality of the sacrum;HP:0001958|Nonketotic hypoglycemia;HP:0000457|Depressed nasal ridge;HP:0002089|Pulmonary hypoplasia;HP:0000369|Low-set ears;HP:0002564|Malformation of the heart and great vessels;HP:0010497|Sirenomelia;HP:0002242|Abnormality of the intestine;HP:0000316|Hypertelorism;HP:0001562|Oligohydramnios;HP:0000104|Renal agenesis;HP:0002575|Tracheoesophageal fistula;HP:0000008|Abnormality of female internal genitalia;HP:0100589|Urogenital fistula;HP:0100335|Non-midline cleft lip
chronic intestinal pseudoobstruction	HP:0011875|Abnormal platelet morphology;HP:0002242|Abnormality of the intestine;HP:0002566|Intestinal malrotation;HP:0001643|Patent ductus arteriosus;HP:0012639|Abnormality of nervous system morphology;HP:0002021|Pyloric stenosis
macrophagic myofasciitis	HP:0002829|Arthralgia;HP:0003326|Myalgia;HP:0012378|Fatigue;HP:0003457|EMG abnormality;HP:0001945|Fever;HP:0003324|Generalized muscle weakness
stickler syndrome type 1	HP:0002829|Arthralgia;HP:0004327|Abnormality of the vitreous humor;HP:0000520|Proptosis;HP:0100734|Abnormality of vertebral epiphysis morphology;HP:0000175|Cleft palate;HP:0001634|Mitral valve prolapse;HP:0000407|Sensorineural hearing impairment;HP:0002652|Skeletal dysplasia;HP:0000518|Cataract;HP:0000327|Hypoplasia of the maxilla;HP:0003196|Short nose;HP:0000541|Retinal detachment;HP:0000545|Myopia;HP:0005692|Joint hyperflexibility;HP:0000343|Long philtrum;HP:0002758|Osteoarthritis;HP:0005930|Abnormality of epiphysis morphology;HP:0000926|Platyspondyly;HP:0000572|Visual loss;HP:0001249|Intellectual disability
ring chromosome 10	HP:0000470|Short neck;HP:0000568|Microphthalmia;HP:0002251|Aganglionic megacolon;HP:0000233|Thin vermilion border;HP:0000767|Pectus excavatum;HP:0008678|Renal hypoplasia/aplasia;HP:0000347|Micrognathia;HP:0002007|Frontal bossing;HP:0000369|Low-set ears;HP:0009748|Large earlobe;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0001852|Sandal gap;HP:0001511|Intrauterine growth retardation;HP:0000494|Downslanted palpebral fissures;HP:0001250|Seizures;HP:0009738|Abnormality of the antihelix;HP:0002901|Hypocalcemia;HP:0001182|Tapered finger;HP:0000431|Wide nasal bridge;HP:0001249|Intellectual disability;HP:0006610|Wide intermamillary distance;HP:0004326|Cachexia;HP:0001252|Muscular hypotonia
ramon syndrome	HP:0004325|Low body weight;HP:0000682|Abnormality of dental enamel;HP:0000365|Hearing impairment;HP:0008683|Labia minora hypertrophy;HP:0100585|Telangiectasia of the skin;HP:0001492|Axenfeld anomaly;HP:0000169|Gingival fibromatosis;HP:0002797|Osteolysis;HP:0004322|Stature below 3rd percentile;HP:0002808|Gibbus deformity;HP:0000580|Pigmentary retinopathy;HP:0000684|Delayed eruption of teeth;HP:0000407|Sensorineural hearing impairment;HP:0005681|Juvenile idiopathic arthritis;HP:0000189|Decreased transverse dimension of palate;HP:0001249|Mental retardation;HP:0001250|Seizures;HP:0000962|Hyperkeratosis;HP:0000543|Pale optic disc;HP:0000593|Abnormality of the anterior chamber;HP:0002650|Scoliosis;HP:0000293|Full cheeks;HP:0001508|Failure to thrive;HP:0002230|Generalized hirsutism;HP:0007703|Abnormality of retinal pigmentation;HP:0000405|Conductive hearing impairment;HP:0001249|Intellectual disability;HP:0000169|Gingival fibrous nodules;HP:0000998|Hypertrichosis;HP:0000819|Diabetes mellitus;HP:0001009|Telangiectases;HP:0001014|Angiokeratoma;HP:0000189|Narrow palate
granulomatous slack skin	HP:0010783|Erythema;HP:0001919|Acute kidney injury;HP:0003072|Hypercalcemia;HP:0002665|Lymphoma;HP:0012189|Hodgkin lymphoma;HP:0000973|Cutis laxa;HP:0001582|Redundant skin;HP:0000121|Nephrocalcinosis;HP:0030053|Stiff skin;HP:0002733|Abnormality of the lymph nodes
glycine n-methyltransferase deficiency	HP:0003235|Hypermethioninemia;HP:0002240|Enlarged liver;HP:0002910|Elevated transaminases
inherited epidermolysis bullosa	HP:0000987|Atypical scarring of skin;HP:0001075|Atrophic scars;HP:0008404|Nail dystrophy;HP:0001805|Thick nail;HP:0006739|Squamous cell carcinoma of the skin;HP:0200037|Skin vesicle;HP:0200097|Oral mucosal blisters;HP:0200020|Corneal erosion;HP:0001056|Milia;HP:0000989|Pruritus;HP:0001000|Abnormality of skin pigmentation;HP:0001030|Fragile skin;HP:0200041|Skin erosion;HP:0001595|Abnormality of the hair;HP:0008066|Abnormal blistering of the skin;HP:0000982|Palmoplantar keratoderma
genochondromatosis	HP:0000924|Abnormality of the skeletal system
dysplasia epiphysealis hemimelica	HP:0002970|Genu varum;HP:0008368|Tarsal synostosis;HP:0001387|Joint stiffness;HP:0002653|Bone pain;HP:0100777|Exostoses;HP:0002757|Recurrent fractures;HP:0003367|Abnormality of the femoral neck;HP:0001763|Pes planus;HP:0002758|Osteoarthritis;HP:0005930|Abnormality of epiphysis morphology;HP:0100555|Asymmetric growth;HP:0002823|Abnormality of the femur;HP:0002857|Genu valgum;HP:0001548|Overgrowth;HP:0008812|Flattened femoral head;HP:0005616|Accelerated skeletal maturation;HP:0010582|Irregular epiphyses
49,xxxxy syndrome	HP:0002139|Arrhinencephaly;HP:0001263|Global developmental delay;HP:0000670|Carious teeth;HP:0000028|Cryptorchidism;HP:0000470|Short neck;HP:0000744|Low frustration tolerance;HP:0000682|Abnormality of dental enamel;HP:0002079|Hypoplasia of the corpus callosum;HP:0000581|Blepharophimosis;HP:0004322|Short stature;HP:0000027|Azoospermia;HP:0000545|Myopia;HP:0002019|Constipation;HP:0000248|Brachycephaly;HP:0008734|Decreased testicular size;HP:0005930|Abnormality of epiphysis morphology;HP:0001360|Holoprosencephaly;HP:0005280|Depressed nasal bridge;HP:0002099|Asthma;HP:0000445|Wide nose;HP:0002463|Language impairment;HP:0008736|Hypoplasia of penis;HP:0000135|Hypogonadism;HP:0002205|Recurrent respiratory infections;HP:0008678|Renal hypoplasia/aplasia;HP:0000582|Upslanted palpebral fissure;HP:0002204|Pulmonary embolism;HP:0000303|Mandibular prognathia;HP:0002564|Malformation of the heart and great vessels;HP:0000486|Strabismus;HP:0001762|Talipes equinovarus;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0000684|Delayed eruption of teeth;HP:0002020|Gastroesophageal reflux;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000771|Gynecomastia;HP:0000175|Cleft palate;HP:0005978|Type II diabetes mellitus;HP:0000457|Depressed nasal ridge;HP:0004936|Venous thrombosis;HP:0002650|Scoliosis;HP:0003042|Elbow dislocation;HP:0000389|Chronic otitis media;HP:0000046|Scrotal hypoplasia;HP:0007018|Attention deficit hyperactivity disorder;HP:0004209|Clinodactyly of the 5th finger;HP:0200021|Down-sloping shoulders;HP:0001249|Intellectual disability;HP:0100025|Overfriendliness;HP:0000679|Taurodontia;HP:0000717|Autism;HP:0000110|Renal dysplasia;HP:0002974|Radioulnar synostosis;HP:0000789|Infertility;HP:0010807|Open bite;HP:0001337|Tremor;HP:0100962|Shyness;HP:0002827|Hip dislocation;HP:0001763|Pes planus;HP:0000737|Irritability;HP:0001252|Muscular hypotonia;HP:0002673|Coxa valga
crandall syndrome	HP:0000035|Abnormality of the testis;HP:0003777|Pili torti;HP:0001596|Alopecia;HP:0002213|Fine hair;HP:0002231|Sparse body hair;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0002299|Brittle hair;HP:0008736|Hypoplasia of penis;HP:0000407|Sensorineural hearing impairment;HP:0000135|Hypogonadism;HP:0000478|Abnormality of the eye
lichen planus pemphigoides	HP:0011830|Abnormality of oral mucosa;HP:0001597|Abnormality of the nail;HP:0000962|Hyperkeratosis;HP:0008066|Abnormal blistering of the skin;HP:0000509|Conjunctivitis;HP:0000498|Blepharitis;HP:0000989|Pruritus;HP:0100725|Lichenification;HP:0007535|Hypopigmented streaks;HP:0200037|Skin vesicle
laryngeal abductor paralysis	HP:0004886|Congenital laryngeal stridor;HP:0000252|Small head circumference;HP:0010307|Stridor;HP:0002093|Respiratory insufficiency;HP:0001601|Laryngomalacia;HP:0001605|Vocal cord paralysis;HP:0002015|Swallowing difficulty;HP:0001249|Mental retardation
linear atrophoderma of moulin	HP:0030053|Stiff skin;HP:0000989|Pruritus;HP:0011123|Inflammatory abnormality of the skin;HP:0100324|Scleroderma;HP:0007546|Linear hyperpigmentation
hypotonia-cystinuria syndrome	HP:0003131|Cystinuria;HP:0001611|Hypernasal speech;HP:0000787|Nephrolithiasis;HP:0012378|Fatigue;HP:0000527|Long eyelashes;HP:0000824|Growth hormone deficiency;HP:0011398|Central hypotonia;HP:0000508|Ptosis;HP:0002591|Polyphagia;HP:0002007|Frontal bossing;HP:0010864|Early and severe mental retardation;HP:0002007|Frontal protruberance;HP:0000358|Ear, posterior angulation, increased;HP:0001510|Growth delay;HP:0008872|Feeding difficulties in infancy;HP:0001252|Hypotonia;HP:0001998|Low blood sugar in newborn;HP:0000286|Epicanthus;HP:0001263|Developmental retardation;HP:0003128|Lactic acidosis;HP:0000400|Large ears;HP:0005280|Flat, nasal bridge;HP:0000815|Primary hypogonadism;HP:0001508|Weight faltering;HP:0001508|Failure to thrive;HP:0010804|Inverted V-shaped upper lip;HP:0000268|Dolichocephaly;HP:0000278|Retrognathia;HP:0000787|Renal calculi;HP:0001558|Decreased fetal movement;HP:0002591|Voracious appetite;HP:0001252|Muscular hypotonia;HP:0000508|Drooping upper eyelid;HP:0001611|Nasal speech
elejalde disease	HP:0001252|Hypotonia;HP:0000639|Nystagmus;HP:0001257|Spasticity;HP:0001250|Seizures;HP:0001251|Ataxia;HP:0001263|Developmental retardation;HP:0000577|Exotropia;HP:0002218|Silver-gray hair color;HP:0001010|Hypopigmentation of the skin;HP:0002220|Melanin pigment aggregation in hair shafts;HP:0001249|Mental retardation;HP:0001008|Accumulation of melanosomes in melanocytes
chromosome 6pter-p24 deletion syndrome	HP:0000577|Exotropia;HP:0011800|Midface, flat;HP:0000248|Brachycephaly;HP:0000316|Increased distance between eye sockets;HP:0001838|Rocker bottom foot;HP:0007759|Cloudy cornea;HP:0000678|Dental crowding;HP:0001492|Axenfeld anomaly;HP:0000470|Decreased cervical height;HP:0000286|Palpebronasal fold;HP:0000369|Low-set ears;HP:0000204|Cleft upper lip;HP:0001636|Tetrology of fallot;HP:0002007|Frontal protruberance;HP:0000540|Hypermetropia;HP:0001270|Motor retardation;HP:0000358|Ear, posterior angulation, increased;HP:0001249|Mental retardation;HP:0000750|Late-onset speech development;HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0001305|Dandy-Walker cyst;HP:0001263|Developmental retardation;HP:0001643|Persistent ductus arteriosus;HP:0000218|Increased palatal height;HP:0005280|Flat, nasal bridge;HP:0006482|Dental malformations;HP:0010804|Inverted V-shaped upper lip;HP:0000627|Embryotoxon;HP:0000337|Increased bitemporal dimension;HP:0001385|Congenital hip dysplasia;HP:0000272|Depressed malar region;HP:0001328|Specific learning disability;HP:0000407|sensorineural hearing loss;HP:0000494|Downward slanting palpebral fissures;HP:0001655|Patent foramen ovale
congenital varicella syndrome	HP:0001263|Global developmental delay;HP:0000987|Atypical scarring of skin;HP:0000568|Microphthalmia;HP:0000518|Cataract;HP:0000252|Microcephaly;HP:0002120|Cerebral cortical atrophy;HP:0001511|Intrauterine growth retardation;HP:0002983|Micromelia;HP:0001249|Intellectual disability
ichthyosis hystrix of curth-macklin	HP:0000962|Hyperkeratosis;HP:0001371|Flexion contracture;HP:0011889|Bleeding with minor or no trauma;HP:0008404|Nail dystrophy;HP:0001581|Recurrent skin infections;HP:0007435|Diffuse palmoplantar keratoderma;HP:0007460|Autoamputation of digits;HP:0008064|Ichthyosis
hashimoto-pritzker syndrome	HP:0000639|Nystagmus;HP:0000488|Retinopathy;HP:0200034|Papule;HP:0100730|Bronchogenic cyst;HP:0200036|Skin nodule;HP:0009719|Hypomelanotic macules;HP:0002797|Osteolysis
solar urticaria	HP:0030828|Wheezing;HP:0001025|Urticaria;HP:0002094|Dyspnea;HP:0002018|Nausea;HP:0002321|Vertigo;HP:0030809|Abnormal tongue morphology;HP:0000159|Abnormality of the lip;HP:0011971|Dermatographic urticaria;HP:0100326|Immunologic hypersensitivity;HP:0001279|Syncope;HP:0000989|Pruritus;HP:0100665|Angioedema;HP:0100539|Periorbital edema;HP:0100845|Anaphylactic shock;HP:0002315|Headache;HP:0000969|Edema
rutherfurd syndrome	HP:0001131|Corneal dystrophy;HP:0000680|Late eruption of primary teeth;HP:0007759|Cloudy cornea;HP:0006352|Failure of eruption of permanent teeth
erosive pustular dermatosis of the scalp	HP:0004552|Scarring alopecia of scalp;HP:0010783|Erythema;HP:0001595|Abnormality of the hair;HP:0200041|Skin erosion;HP:0200039|Pustule
prader-willi-like syndrome	HP:0000044|Hypogonadotrophic hypogonadism;HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0000577|Exotropia;HP:0004322|Short stature;HP:0000545|Myopia;HP:0007874|Almond-shaped palpebral fissure;HP:0002019|Constipation;HP:0002880|Respiratory difficulties;HP:0000218|High palate;HP:0000825|Hyperinsulinemic hypoglycemia;HP:0000508|Ptosis;HP:0002591|Polyphagia;HP:0001371|Flexion contracture;HP:0009088|Speech articulation difficulties;HP:0003086|Acromesomelia;HP:0000194|Open mouth;HP:0011968|Feeding difficulties;HP:0001773|Short foot;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0003199|Decreased muscle mass;HP:0000729|Autistic behavior;HP:0004324|Increased body weight;HP:0001508|Failure to thrive;HP:0012166|Skin-picking;HP:0000565|Esotropia;HP:0200055|Small hand;HP:0001249|Intellectual disability;HP:0001319|Neonatal hypotonia;HP:0000141|Amenorrhea;HP:0000341|Narrow forehead;HP:0000505|Visual impairment;HP:0001513|Obesity;HP:0010535|Sleep apnea;HP:0000280|Coarse facial features;HP:0012743|Abdominal obesity;HP:0000054|Micropenis
apolipoprotein a-i deficiency	HP:0002716|Lymphadenopathy;HP:0001744|Splenomegaly;HP:0007957|Corneal opacity;HP:0003233|Hypoalphalipoproteinemia;HP:0003457|EMG abnormality;HP:0001392|Abnormality of the liver;HP:0000991|Xanthomatosis;HP:0004374|Hemiplegia/hemiparesis;HP:0000622|Blurred vision;HP:0001903|Anemia
3-hydroxyisobutyric aciduria	HP:0001250|Seizures;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0000347|Micrognathia;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0003128|Lactic acidosis;HP:0000252|Microcephaly;HP:0002119|Ventriculomegaly;HP:0000343|Long philtrum;HP:0000325|Triangular face;HP:0002514|Cerebral calcification;HP:0002120|Cerebral cortical atrophy;HP:0001511|Intrauterine growth retardation;HP:0003335|Low gonadotropins (secondary hypogonadism);HP:0008551|Microtia;HP:0000340|Sloping forehead
epidermolysis bullosa simplex superficialis	HP:0200041|Skin erosion;HP:0001056|Milia;HP:0006297|Hypoplasia of dental enamel;HP:0001075|Atrophic scars;HP:0001030|Fragile skin
diphallia	HP:0000028|Cryptorchidism;HP:0003316|Butterfly vertebrae;HP:0010475|Cloacal exstrophy;HP:0002023|Anal atresia;HP:0000039|Epispadias;HP:0000075|Renal duplication;HP:0001631|Atrial septal defect;HP:0030275|Ectopic scrotum;HP:0002937|Hemivertebrae;HP:0000047|Hypospadias;HP:0001627|Abnormal heart morphology;HP:0002836|Bladder exstrophy;HP:0000048|Bifid scrotum;HP:0100599|Bifid penis;HP:0004712|Renal malrotation;HP:0011140|Gastrointestinal duplication;HP:0002650|Scoliosis;HP:0000119|Abnormality of the genitourinary system;HP:0004792|Rectoperineal fistula;HP:0000023|Inguinal hernia;HP:0005223|Duplicated colon;HP:0000085|Horseshoe kidney;HP:0009777|Absent thumb;HP:0100600|Penoscrotal transposition;HP:0000073|Ureteral duplication;HP:0008669|Abnormal spermatogenesis;HP:0003172|Abnormality of the pubic bone;HP:0011024|Abnormality of the gastrointestinal tract;HP:0008706|Distal urethral duplication
tetrasomy x	HP:0001263|Global developmental delay;HP:0002974|Radioulnar synostosis;HP:0000286|Epicanthus;HP:0000582|Upslanted palpebral fissure;HP:0001385|Hip dysplasia;HP:0010978|Abnormality of immune system physiology;HP:0002564|Malformation of the heart and great vessels;HP:0100543|Cognitive impairment;HP:0000486|Strabismus;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0001328|Specific learning disability;HP:0100805|Precocious menopause;HP:0000164|Abnormality of the teeth;HP:0001252|Muscular hypotonia;HP:0004209|Clinodactyly of the 5th finger;HP:0001156|Brachydactyly syndrome
enterokinase deficiency	HP:0003075|Hypoproteinemia;HP:0001508|Weight faltering;HP:0002014|Diarrhea;HP:0007609|Hypoproteinemic edema
keratolytic winter erythema	HP:0010783|Erythema;HP:0200039|Pustule;HP:0000975|Hyperhidrosis
adamantinoma of long bones	HP:0002664|Neoplasia
hereditary mucoepithelial dysplasia	HP:0000639|Nystagmus;HP:0006532|Pneumonia, recurrent episodes;HP:0000518|Cataract;HP:0002213|Fine hair;HP:0002164|Nail dysplasia;HP:0002575|Tracheoesophageal fistula;HP:0007759|Cloudy cornea;HP:0000565|Inward turning of one or both eyes;HP:0000613|Extreme light sensitivity;HP:0012732|Anorectal anomaly;HP:0002205|Recurrent respiratory infections;HP:0008396|Chronic monilial nail infection;HP:0000618|Blindness;HP:0002206|Pulmonary fibrosis;HP:0002028|Chronic diarrhea;HP:0008404|Dystrophic nails;HP:0000790|Hematuria;HP:0000008|Abnormality of female internal genitalia;HP:0000962|Hyperkeratosis;HP:0011496|Corneal vascularization;HP:0000221|Furrowed tongue;HP:0001131|Corneal dystrophy;HP:0008070|Sparse hair;HP:0000119|Abnormality of the genitourinary system;HP:0001596|Hair loss;HP:0002208|Coarse hair texture;HP:0000014|Abnormality of the bladder;HP:0001596|Alopecia;HP:0002249|Melena;HP:0000613|Photophobia;HP:0001648|Cor pulmonale;HP:0002728|Mucocutaneous candidiasis;HP:0000212|Gingival overgrowth;HP:0002090|Pneumonia;HP:0001096|Keratoconjunctivitis;HP:0006552|Fibrocystic lung disease;HP:0001880|Eosinophilia
geroderma osteodysplastica	HP:0000938|Decreased bone mineral density;HP:0001263|Global developmental delay;HP:0004568|Wedged vertebrae;HP:0002980|Bowed femura;HP:0000490|Sunken eyes;HP:0005930|Abnormality of epiphysis morphology;HP:0007495|Prematurely aged appearance;HP:0000974|Hyperextensible skin;HP:0000963|Thin skin;HP:0000973|Dermatomegaly;HP:0000303|Mandibular prognathia;HP:0005692|Joint hyperflexibility;HP:0002953|Vertebral compression fractures;HP:0003510|Proportionate dwarfism;HP:0001249|Mental retardation;HP:0001510|Growth delay;HP:0000478|Abnormality of the eye;HP:0000750|Late-onset speech development;HP:0001256|Intellectual disability, mild;HP:0003312|Abnormal form of the vertebral bodies;HP:0000252|Small head circumference;HP:0002982|Bowed tibia;HP:0000327|Maxillary micrognathia;HP:0011849|Abnormal bone ossification;HP:0002650|Scoliosis;HP:0002757|Recurrent fractures;HP:0000939|Osteoporosis;HP:0000272|Malar flattening;HP:0000926|Platyspondyly;HP:0001187|Finger joint hyperextensibility;HP:0000926|Flattened vertebral bodies;HP:0003301|vertebral endplate irregularity;HP:0000704|Pyorrhea;HP:0004586|Fish vertebrae;HP:0012385|Camptodactyly;HP:0000272|Depressed malar region;HP:0000303|Increased size of lower jaw;HP:0001883|Talipes;HP:0000504|Abnormality of vision;HP:0003510|Severe short stature;HP:0001582|Redundant skin;HP:0002645|Extra bones within cranial sutures;HP:0002659|Increased tendency to fractures;HP:0002827|Hip dislocation;HP:0001763|Pes planus;HP:0004568|Beaking of vertebral bodies;HP:0100790|Hernia;HP:0001252|Muscular hypotonia;HP:0004586|Biconcave vertebral bodies;HP:0000768|Pectus carinatum;HP:0000482|Microcornea
ribose 5-phosphate isomerase deficiency	HP:0001257|Spasticity;HP:0001250|Seizures;HP:0001251|Ataxia;HP:0001263|Developmental retardation;HP:0001271|Polyneuropathy;HP:0001939|Laboratory abnormality;HP:0007141|Mixed polyneuropathy;HP:0000648|Optic-nerve degeneration;HP:0002352|Leukoencephalopathy
amyotrophic lateral sclerosis 1	HP:0001257|Spasticity;HP:0002380|Muscle twitch;HP:0007024|Pseudobulbar palsy;HP:0001347|Hyperreflexia;HP:0003202|Neurogenic muscle atrophy, especially in the lower limbs;HP:0010535|Sleep apnea;HP:0007354|Amyotrophic lateral sclerosis;HP:0003394|Muscle cramps;HP:0001324|Muscular weakness;HP:0002314|Degeneration of the lateral corticospinal tracts;HP:0002398|Anterior horn cell loss
woodhouse-sakati syndrome	HP:0000044|Hypogonadotrophic hypogonadism;HP:0005135|EKG: T-wave abnormalities;HP:0001587|Primary ovarian failure;HP:0002071|Extrapyramidal dysfunction;HP:0008619|Bilateral sensorineural hearing impairment;HP:0000815|Hypergonadotropic hypogonadism;HP:0000738|Sensory hallucination;HP:0001268|Mental deterioration;HP:0001266|Choreoathetosis;HP:0008734|Decreased testicular size;HP:0040171|Decreased serum testosterone level;HP:0030353|Decreased serum insulin-like growth factor 1;HP:0001260|Dysarthria;HP:0000135|Hypogonadism;HP:0010464|Streak ovary;HP:0000426|Protruding bridge of nose;HP:0000013|Underdeveloped uterus;HP:0001332|Dystonia;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0002925|Increased serum thyroid-stimulating hormone;HP:0001249|Mental retardation;HP:0000013|Hypoplasia of the uterus;HP:0002213|Thin hair shaft;HP:0000054|Short penis;HP:0008209|Premature ovarian failure;HP:0000411|Prominent ears;HP:0008697|Hypoplasia of the fallopian tube;HP:0003077|Hyperlipidemia;HP:0000709|Psychosis;HP:0000815|Primary hypogonadism;HP:0040171|Low serum testosterone levels;HP:0000448|Prominent nose;HP:0001249|Intellectual disability;HP:0001596|Hair loss;HP:0008070|Thinned hair;HP:0000411|Protruding ear;HP:0001596|Alopecia;HP:0000674|Anodontia;HP:0000819|Diabetes mellitus;HP:0000738|Hallucinations;HP:0000325|Triangular face;HP:0000407|sensorineural hearing loss;HP:0008214|Decreased serum estradiol;HP:0008669|Abnormal spermatogenesis;HP:0000054|Micropenis;HP:0001260|Dysarthric speech;HP:0000831|Insulin-resistant diabetes mellitus;HP:0000821|Hypothyroidism
ascher syndrome	HP:0000853|Goiter;HP:0000853|Goitre;HP:0000153|Abnormal mouth;HP:0000492|Abnormality of the eyelid;HP:0010749|Blepharochalasis;HP:0000505|Visual impairment;HP:0000581|Blepharophimosis;HP:0012724|Upper eyelid edema;HP:0000316|Hypertelorism;HP:0000478|Abnormal eye;HP:0000177|Abnormality of upper lip;HP:0000218|High palate;HP:0004097|Deviation of finger;HP:0000445|Wide nose;HP:0000508|Ptosis;HP:0000821|Hypothyroidism
homocarnosinosis	HP:0003167|High urine carnosine levels;HP:0001000|Pigmentary changes;HP:0007703|Abnormal retinal pigmentation;HP:0001249|Mental retardation;HP:0001258|Spastic paraplegia, lower limb
camptodactyly-arthropathy-coxa vara-pericarditis syndrome	HP:0002812|Coxa vara;HP:0001239|Wrist flexion deformity;HP:0001369|Arthritis;HP:0011909|Flattened metacarpal heads;HP:0005197|Generalized morning stiffness;HP:0005194|Flattened head of long bone of foot;HP:0005879|Congenital finger flexion contractures;HP:0005186|Synovial hypertrophy;HP:0003040|Arthropathy;HP:0002563|Constrictive pericarditis
gorlin-chaudhry-moss syndrome	HP:0000639|Nystagmus;HP:0010940|Aplasia/Hypoplasia of the nasal bone;HP:0000492|Abnormality of the eyelid;HP:0000647|Sclerocornea;HP:0004322|Short stature;HP:0000248|Brachycephaly;HP:0000929|Abnormality of the skull;HP:0001537|Umbilical hernia;HP:0009882|Short distal phalanx of finger;HP:0000316|Hypertelorism;HP:0001643|Patent ductus arteriosus;HP:0000164|Abnormality of the teeth;HP:0002208|Coarse hair;HP:0000677|Oligodontia;HP:0000478|Abnormality of the eye;HP:0001256|Intellectual disability, mild;HP:0000327|Hypoplasia of the maxilla;HP:0000294|Low anterior hairline;HP:0000636|Upper eyelid coloboma;HP:0001163|Abnormality of the metacarpal bones;HP:0000483|Astigmatism;HP:0002230|Generalized hirsutism;HP:0001760|Abnormality of the foot;HP:0000405|Conductive hearing impairment;HP:0000504|Abnormality of vision;HP:0008497|Congenital craniofacial dysostosis;HP:0009891|Underdeveloped supraorbital ridges;HP:0004440|Coronal craniosynostosis
pili torti	HP:0001597|Abnormality of the nail;HP:0002208|Coarse hair texture;HP:0003777|Pili torti;HP:0001596|Alopecia;HP:0000682|Abnormality of dental enamel;HP:0010719|Abnormality of hair texture;HP:0003329|Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes;HP:0000365|Hearing impairment;HP:0000164|Abnormality of the teeth;HP:0002299|Brittle hair;HP:0011359|Dry hair;HP:0006297|Hypoplasia of tooth enamel;HP:0000534|Abnormality of the eyebrow
autosomal recessive spondylocostal dysostosis	HP:0000028|Cryptorchidism;HP:0000470|Short neck;HP:0010978|Abnormality of immune system physiology;HP:0004322|Short stature;HP:0005280|Depressed nasal bridge;HP:0000337|Broad forehead;HP:0010306|Short thorax;HP:0000047|Hypospadias;HP:0006101|Finger syndactyly;HP:0001537|Umbilical hernia;HP:0002564|Malformation of the heart and great vessels;HP:0010772|Anomalous pulmonary venous return;HP:0003298|Spina bifida occulta;HP:0000343|Long philtrum;HP:0000069|Abnormality of the ureter;HP:0001511|Intrauterine growth retardation;HP:0000772|Abnormality of the ribs;HP:0002435|Meningocele;HP:0000008|Abnormality of female internal genitalia;HP:0005108|Abnormality of the intervertebral disk;HP:0006655|Rib segmentation abnormalities;HP:0000175|Cleft palate;HP:0003312|Abnormal form of the vertebral bodies;HP:0002093|Respiratory insufficiency;HP:0000256|Macrocephaly;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0002808|Kyphosis;HP:0000902|Rib fusion;HP:0000023|Inguinal hernia;HP:0001249|Intellectual disability;HP:0003422|Vertebral segmentation defect;HP:0000269|Prominent occiput;HP:0000463|Anteverted nares;HP:0100490|Camptodactyly of finger;HP:0000368|Low-set, posteriorly rotated ears;HP:0100589|Urogenital fistula;HP:0000776|Congenital diaphragmatic hernia
osteoglophonic dwarfism	HP:0000028|Cryptorchidism;HP:0000889|Abnormality of the clavicle;HP:0000411|Protruding ear;HP:0000347|Micrognathia;HP:0001363|Craniosynostosis;HP:0003312|Abnormal form of the vertebral bodies;HP:0003510|Severe short stature;HP:0008905|Rhizomelia;HP:0011849|Abnormal bone ossification;HP:0002750|Delayed skeletal maturation;HP:0000463|Anteverted nares;HP:0002650|Scoliosis;HP:0000316|Hypertelorism;HP:0000453|Choanal atresia;HP:0001249|Intellectual disability;HP:0001531|Failure to thrive in infancy;HP:0009804|Reduced number of teeth;HP:0000023|Inguinal hernia;HP:0006283|Multiple unerupted teeth;HP:0001156|Brachydactyly syndrome
acid phosphatase deficiency	HP:0001252|Hypotonia;HP:0002013|Emesis;HP:0002179|Opisthotonus;HP:0001892|Bleeding diathesis
epilepsy, reading	HP:0002353|Abnormal EEG;HP:0001250|Seizures
bruck syndrome 2	HP:0002987|Elbow contracture;HP:0000938|Decreased bone mineral density;HP:0004322|Stature below 3rd percentile;HP:0003080|Elevated urinary hydroxyproline;HP:0001371|Flexion contractures of joints;HP:0002645|Extra bones within cranial sutures;HP:0002980|Bowed femura;HP:0002659|Increased tendency to fractures;HP:0001059|Pterygium;HP:0001762|Talipes equinovarus;HP:0006380|Contractures of knees;HP:0000768|Pectus carinatum;HP:0000023|Inguinal hernia;HP:0000926|Flattened vertebral bodies
trehalase deficiency	HP:0002014|Diarrhea
aminoacylase 1 deficiency	HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0002059|Degeneration of cerebrum;HP:0001263|Developmental retardation;HP:0001272|Cerebellar atrophy;HP:0000407|sensorineural hearing loss;HP:0000316|Increased distance between eye sockets;HP:0001324|Muscular weakness;HP:0002188|Delayed CNS myelination;HP:0000431|Broad nasal root;HP:0006846|Acute encephalopathy;HP:0000752|Hyperactive behavior
robinow-sorauf syndrome	HP:0000486|Squint eyes;HP:0000272|Depressed malar region;HP:0000586|Shallow orbits;HP:0000316|Increased distance between eye sockets;HP:0010055|Abnormally broad great toes;HP:0000460|Decreased nasal breadth;HP:0003189|Elongated nose;HP:0001357|Flattening of cranial vault;HP:0010066|Hallucal duplication
cyclic thrombocytopenia	HP:0001873|Low platelet count;HP:0001892|Bleeding diathesis;HP:0001875|Neutropenia
conotruncal heart malformations	HP:0004935|Pulmonary artery atresia;HP:0001669|Transposition of the great arteries;HP:0001643|Patent ductus arteriosus;HP:0001636|Tetralogy of Fallot;HP:0012303|Abnormality of the aortic arch;HP:0001679|Abnormality of the aorta;HP:0004414|Abnormality of the pulmonary artery
marfanoid hypermobility syndrome	HP:0002705|High, narrow palate;HP:0000767|Funnel chest;HP:0001659|Aortic insufficiency;HP:0007700|Anterior segment dysgenesis;HP:0001507|Abnormal growth;HP:0002622|Dissecting aortic aneurysm;HP:0001382|Hyperextensible joints;HP:0001653|Mitral valve insufficiency;HP:0002650|Scoliosis;HP:0000951|dermatopathy;HP:0001166|Long, slender fingers;HP:0001083|Dislocated lenses;HP:0000768|Pectus carinatum
anterior segment mesenchymal dysgenesis	HP:0001115|Posterior polar cataract;HP:0007700|Anterior segment dysgenesis;HP:0007759|Cloudy cornea
gamma-glutamyl transpeptidase deficiency	HP:0001939|Laboratory abnormality;HP:0001249|Mental retardation
retinitis pigmentosa 17	HP:0000510|Retinitis pigmentosa
aquagenic urticaria	HP:0001025|Hives
kyrle disease	HP:0000951|dermatopathy;HP:0007787|Posterior subcapsular cataract
calcaneonavicular coalition	HP:0005880|Metacarpophalangeal synostosis;HP:0010049|Metacarpal hypoplasia;HP:0009843|Aplasia/hypoplasia of middle phalanges;HP:0008368|Tarsal fusions;HP:0009702|Fused carpal bones;HP:0001798|Anonychia;HP:0003048|Radial subluxation;HP:0000430|Nasal cartilage hypoplasia
huriez syndrome	HP:0007597|Congenital palmoplantar keratodermia;HP:0001792|Hypoplastic nails;HP:0002664|Neoplasia
alpha-n-acetylgalactosaminidase deficiency	HP:0000639|Nystagmus;HP:0000938|Decreased bone mineral density;HP:0001263|Global developmental delay;HP:0000486|Squint eyes;HP:0000518|Cataract;HP:0011276|Vascular skin abnormality;HP:0000365|Hearing impairment;HP:0002019|Constipation;HP:0001321|Cerebellar hypoplasia;HP:0002376|Loss of developmental milestones;HP:0002376|Developmental regression;HP:0006532|Recurrent pneumonia;HP:0001336|Myoclonic jerks;HP:0001004|Lymphedema;HP:0000648|Optic-nerve degeneration;HP:0010471|Oligosacchariduria;HP:0001257|Spasticity;HP:0000618|Blindness;HP:0010864|Early and severe mental retardation;HP:0000486|Strabismus;HP:0009830|Peripheral neuropathy;HP:0001640|Cardiomegaly;HP:0002120|Cerebral cortical atrophy;HP:0012471|Thick vermilion border;HP:0003461|Increased urinary O-linked sialopeptides;HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0002020|Gastroesophageal reflux;HP:0001263|Developmental retardation;HP:0002445|Tetraplegia;HP:0002650|Scoliosis;HP:0002169|Clonus;HP:0100704|Cortical visual impairment;HP:0001249|Intellectual disability;HP:0003700|Diffuse muscle wasting;HP:0000717|Autism;HP:0002321|Vertigo;HP:0001347|Hyperreflexia;HP:0000280|Coarse facial features;HP:0001252|Muscular hypotonia
autosomal dominant partial epilepsy with auditory features	HP:0007334|Partial seizures with secondary generalization;HP:0002384|Dyscognitive seizures;HP:0002349|Focal seizures without impairment of consciousness or awareness;HP:0011158|Auditory auras
lenz-majewski hyperostotic dwarfism	HP:0001263|Global developmental delay;HP:0000028|Cryptorchidism;HP:0001274|Agenesis of corpus callosum;HP:0000682|Abnormality of dental enamel;HP:0000239|Large fontanelles;HP:0001331|Absent septum pellucidum;HP:0004437|Cranial hyperostosis;HP:0003103|Abnormal cortical bone morphology;HP:0000453|Choanal atresia;HP:0000039|Epispadias;HP:0010628|Facial palsy;HP:0007495|Prematurely aged appearance;HP:0005465|Facial hyperostosis;HP:0001376|Limitation of joint mobility;HP:0000337|Broad forehead;HP:0000135|Hypogonadism;HP:0001156|Brachydactyly syndrome;HP:0000047|Hypospadias;HP:0006101|Finger syndactyly;HP:0000154|Wide mouth;HP:0000303|Mandibular prognathia;HP:0000193|Bifid uvula;HP:0000270|Delayed cranial suture closure;HP:0000316|Hypertelorism;HP:0005692|Joint hyperflexibility;HP:0004279|Short palm;HP:0001812|Hyperconvex fingernails;HP:0012471|Thick vermilion border;HP:0003241|External genital hypoplasia;HP:0000175|Cleft palate;HP:0011001|Increased bone mineral density;HP:0000256|Macrocephaly;HP:0003070|Elbow ankylosis;HP:0006660|Aplastic clavicles;HP:0001163|Abnormality of the metacarpal bones;HP:0002650|Scoliosis;HP:0002808|Kyphosis;HP:0011002|Osteopetrosis;HP:0000023|Inguinal hernia;HP:0001167|Abnormality of finger;HP:0001249|Intellectual disability;HP:0002705|High, narrow palate;HP:0003510|Severe short stature;HP:0001582|Redundant skin;HP:0002750|Delayed skeletal maturation;HP:0009773|Symphalangism affecting the phalanges of the hand;HP:0100541|Femoral hernia;HP:0000400|Macrotia;HP:0001328|Specific learning disability;HP:0000614|Abnormality of the nasolacrimal system;HP:0000036|Abnormality of the penis;HP:0001252|Muscular hypotonia;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0001804|Hypoplastic fingernail;HP:0000238|Hydrocephalus;HP:0000944|Abnormality of the metaphyses;HP:0000176|Submucous cleft hard palate;HP:0002684|Thickened calvaria
succinyl-coa:3-ketoacid coa transferase deficiency	HP:0005974|Episodic ketoacidosis;HP:0002013|Emesis;HP:0002789|Increased respiratory rate or depth of breathing;HP:0002919|Ketonuria
formiminoglutamic aciduria	HP:0003612|Positive ferric chloride test;HP:0001889|Megaloblastic anemia;HP:0003355|Aminoaciduria;HP:0001510|Growth deficiency;HP:0004821|Hypersegmentation of neutrophil nuclei;HP:0001249|Mental retardation
bart-pumphrey syndrome	HP:0000365|Hearing impairment;HP:0001820|Leukonychia
essential pentosuria	HP:0003110|Abnormality of urine homeostasis
corneal endothelial dystrophy type 2	HP:0008005|Congenital corneal dystrophy;HP:0007759|Cloudy cornea
17-alpha-hydroxylase deficiency	HP:0000840|Adrenogenital syndrome;HP:0000786|Primary amenorrhea;HP:0000037|Male pseudohermaphroditism;HP:0008221|Enlarged adrenal glands;HP:0000771|Gynaecomastia;HP:0000062|Ambiguous external genitalia;HP:0000822|Hypertension;HP:0001949|Hypokalemic alkalosis
megaepiphyseal dwarfism	HP:0000924|Abnormality of the skeletal system;HP:0000286|Palpebronasal fold;HP:0001999|Facial dysmorphism;HP:0008494|Inferior lens subluxation;HP:0003510|Proportionate dwarfism;HP:0000175|Palatoschisis
spondyloepimetaphyseal dysplasia, missouri type	HP:0002812|Coxa vara;HP:0002970|Genu varum;HP:0002652|Skeletal dysplasia;HP:0002651|Spondyloepimetaphyseal dysplasia;HP:0004322|Short stature;HP:0002980|Femoral bowing;HP:0004566|Pear-shaped vertebrae;HP:0002758|Osteoarthritis;HP:0005930|Abnormality of epiphysis morphology;HP:0001376|Limitation of joint mobility;HP:0006385|Short lower limbs;HP:0000944|Abnormality of the metaphyses;HP:0002982|Tibial bowing
griscelli syndrome, type 2	HP:0001317|Abnormality of the cerebellum;HP:0001257|Spasticity;HP:0001250|Seizures;HP:0002718|Recurrent pyogenic infections;HP:0002218|Silver-gray hair color;HP:0002344|Progressive neurologic deterioration;HP:0001010|Hypopigmentation of the skin;HP:0002972|Decreased reactivity to skin test antigens;HP:0002220|Melanin pigment aggregation in hair shafts;HP:0001008|Accumulation of melanosomes in melanocytes
myeloproliferative syndrome, transient	HP:0001974|Leukocytosis;HP:0005534|Transient myeloproliferative syndrome
dystonia-parkinsonism, x-linked	HP:0002548|Parkinsonism with favorable response to dopaminergic medication;HP:0001336|Myoclonic jerks;HP:0001337|Tremor;HP:0002072|Chorea;HP:0001304|Dystonia musculorum deformans
hip dysplasia, beukes type	HP:0005041|Irregular capital femoral epiphysis;HP:0001385|Congenital hip dysplasia;HP:0006429|Broad femoral neck;HP:0001385|Hip dysplasia;HP:0003370|Flat capital femoral epiphyses;HP:0002812|Coxa vara;HP:0006429|Broadening of femoral neck;HP:0011849|Abnormal bone ossification;HP:0009107|Abnormal ossification involving the femoral head and neck;HP:0002650|Scoliosis;HP:0005743|Perthes-like femoral head changes;HP:0002758|Osteoarthritis;HP:0002808|Kyphosis;HP:0005930|Abnormality of epiphysis morphology;HP:0008783|Wide metaphysis of innermost thighbone;HP:0010574|Abnormality of the epiphysis of the femoral head;HP:0003182|Shallow acetabulae;HP:0004348|Abnormality of bone mineral density
albinism, ocular, with late-onset sensorineural deafness	HP:0005592|Giant melanosomes in melanocytes;HP:0000505|Poor vision;HP:0001022|Achromasia;HP:0008615|Sensorineural deafness, late-onset;HP:0000613|Extreme light sensitivity;HP:0007680|Depigmented fundus;HP:0001361|Nystagmus-induced head nodding
keratoderma, palmoplantar, with deafness	HP:0000365|Hearing impairment;HP:0000972|Thick palms and soles
mehmo syndrome	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0010864|Intellectual disability, severe;HP:0008736|Hypoplasia of penis;HP:0001762|Talipes equinovarus;HP:0009748|Large earlobe;HP:0011344|Severe global developmental delay;HP:0002714|Downturned corners of mouth;HP:0001276|Hypertonia;HP:0012471|Thick vermilion border;HP:0001510|Growth delay;HP:0000713|Agitation;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0003241|External genital hypoplasia;HP:0000293|Full cheeks;HP:0000252|Microcephaly;HP:0001182|Tapered finger;HP:0000311|Round face;HP:0001513|Obesity;HP:0001347|Hyperreflexia;HP:0000819|Diabetes mellitus;HP:0001252|Muscular hypotonia;HP:0000054|Micropenis;HP:0000340|Sloping forehead
congenital disorder of glycosylation, type ic	HP:0003642|Abnormal isoelectric focusing of serum transferrin, type I pattern;HP:0001250|Seizures;HP:0000486|Squint eyes;HP:0008150|Elevated serum transaminases during infections;HP:0001251|Ataxia;HP:0001263|Developmental retardation;HP:0001976|Reduced antithrombin III activity;HP:0001284|Areflexia;HP:0001929|Reduced factor XI activity;HP:0008936|Truncal hypotonia
congenital disorder of glycosylation, type iic	HP:0000349|Hairline point;HP:0005400|Reduction of neutrophil motility;HP:0002373|Febrile convulsions;HP:0004322|Stature below 3rd percentile;HP:0001939|Laboratory abnormality;HP:0010864|Early and severe mental retardation;HP:0010529|Echophrasia;HP:0001574|Abnormality of the integument;HP:0002120|Cerebral cortical atrophy;HP:0000739|Anxiety;HP:0001252|Hypotonia;HP:0000252|Small head circumference;HP:0001263|Developmental retardation;HP:0000722|Obsessive compulsive disorder;HP:0000403|Otitis media, recurrent;HP:0000704|Pyorrhea;HP:0000717|Autism;HP:0011950|Bronchiolitis;HP:0001773|Small feet;HP:0000280|Coarse facial features;HP:0002090|Pneumonia;HP:0000414|Bulbous nose;HP:0001156|Brachydactyly
thomas syndrome	HP:0008678|Renal hypoplasia/aplasia;HP:0000175|Cleft palate;HP:0000003|Multicystic kidney dysplasia;HP:0000348|High forehead;HP:0002564|Malformation of the heart and great vessels;HP:0000316|Hypertelorism;HP:0000204|Cleft upper lip;HP:0001562|Oligohydramnios;HP:0000268|Dolichocephaly;HP:0004383|Hypoplastic left heart;HP:0000494|Downslanted palpebral fissures
acromelic frontonasal dysplasia	HP:0000455|Broad nasal tip;HP:0000316|Hypertelorism;HP:0011803|Bifid nose;HP:0002084|Encephalocele;HP:0002435|Meningocele;HP:0009928|Thick nasal alae
acrofacial dysostosis, catania type	HP:0000028|Cryptorchidism;HP:0000670|Carious teeth;HP:0003196|Short nose;HP:0004322|Short stature;HP:0010720|Abnormal hair pattern;HP:0007477|Abnormal dermatoglyphics;HP:0000767|Pectus excavatum;HP:0001156|Brachydactyly syndrome;HP:0000047|Hypospadias;HP:0007598|Bilateral single transverse palmar creases;HP:0006101|Finger syndactyly;HP:0003298|Spina bifida occulta;HP:0000465|Webbed neck;HP:0000164|Abnormality of the teeth;HP:0004467|Preauricular pit;HP:0001511|Intrauterine growth retardation;HP:0004279|Short palm;HP:0002208|Coarse hair;HP:0002006|Facial cleft;HP:0000494|Downslanted palpebral fissures;HP:0001256|Intellectual disability, mild;HP:0008872|Feeding difficulties in infancy;HP:0000252|Microcephaly;HP:0000319|Smooth philtrum;HP:0001622|Premature birth;HP:0004209|Clinodactyly of the 5th finger;HP:0000023|Inguinal hernia;HP:0200055|Small hand;HP:0000348|High forehead;HP:0002750|Delayed skeletal maturation;HP:0000308|Microretrognathia;HP:0000368|Low-set, posteriorly rotated ears;HP:0000174|Abnormality of the palate;HP:0009804|Reduced number of teeth;HP:0010669|Cheekbone underdevelopment
schisis association	HP:0000175|Cleft palate;HP:0100333|Unilateral cleft lip;HP:0002023|Anal atresia;HP:0002983|Micromelia;HP:0001518|Small for gestational age;HP:0002564|Malformation of the heart and great vessels;HP:0000252|Microcephaly;HP:0001539|Omphalocele;HP:0000104|Renal agenesis;HP:0001622|Premature birth;HP:0002084|Encephalocele;HP:0002575|Tracheoesophageal fistula;HP:0002414|Spina bifida;HP:0002323|Anencephaly;HP:0000776|Congenital diaphragmatic hernia
ectodermal dysplasia syndrome	HP:0003777|Pili torti;HP:0001155|Abnormality of the hand;HP:0000518|Cataract;HP:0002015|Dysphagia;HP:0000246|Sinusitis;HP:0002213|Fine hair;HP:0000929|Abnormality of the skull;HP:0001000|Abnormality of skin pigmentation;HP:0012384|Rhinitis;HP:0000572|Visual loss;HP:0000232|Everted lower lip vermilion;HP:0000217|Xerostomia;HP:0000445|Wide nose;HP:0008069|Neoplasm of the skin;HP:0002557|Hypoplastic nipples;HP:0006101|Finger syndactyly;HP:0000369|Low-set ears;HP:0006482|Abnormality of dental morphology;HP:0002223|Absent eyebrow;HP:0000164|Abnormality of the teeth;HP:0100257|Ectrodactyly;HP:0002293|Alopecia of scalp;HP:0100776|Recurrent pharyngitis;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0002719|Recurrent infections;HP:0000271|Abnormality of the face;HP:0000478|Abnormality of the eye;HP:0001250|Seizures;HP:0000389|Chronic otitis media;HP:0001508|Failure to thrive;HP:0000491|Keratitis;HP:0007447|Diffuse palmoplantar hyperkeratosis;HP:0001760|Abnormality of the foot;HP:0000405|Conductive hearing impairment;HP:0000202|Oral cleft;HP:0001597|Abnormality of the nail;HP:0000504|Abnormality of vision;HP:0000958|Dry skin;HP:0001097|Keratoconjunctivitis sicca;HP:0002217|Slow-growing hair;HP:0000613|Photophobia;HP:0000509|Conjunctivitis;HP:0001161|Hand polydactyly;HP:0000964|Eczema;HP:0100643|Abnormality of nail color;HP:0000956|Acanthosis nigricans;HP:0001581|Recurrent skin infections;HP:0002047|Malignant hyperthermia
trisomy 17p	HP:0001263|Global developmental delay;HP:0000160|Narrow mouth;HP:0000470|Short neck;HP:0001650|Aortic valve stenosis;HP:0000518|Cataract;HP:0005487|Prominent metopic ridge;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0000218|High palate;HP:0000445|Wide nose;HP:0000508|Ptosis;HP:0008736|Hypoplasia of penis;HP:0001371|Flexion contracture;HP:0000347|Micrognathia;HP:0000154|Wide mouth;HP:0008661|Urethral stenosis;HP:0009890|High anterior hairline;HP:0000126|Hydronephrosis;HP:0000369|Low-set ears;HP:0000486|Strabismus;HP:0010481|Urethral valve;HP:0000316|Hypertelorism;HP:0000158|Macroglossia;HP:0001643|Patent ductus arteriosus;HP:0001511|Intrauterine growth retardation;HP:0012471|Thick vermilion border;HP:0001276|Hypertonia;HP:0001510|Growth delay;HP:0000494|Downslanted palpebral fissures;HP:0000175|Cleft palate;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0000319|Smooth philtrum;HP:0001182|Tapered finger;HP:0002230|Generalized hirsutism;HP:0000272|Malar flattening;HP:0011229|Broad eyebrow;HP:0000448|Prominent nose;HP:0004209|Clinodactyly of the 5th finger;HP:0004383|Hypoplastic left heart;HP:0009928|Thick nasal alae;HP:0001249|Intellectual disability;HP:0000202|Oral cleft;HP:0002162|Low posterior hairline;HP:0001883|Talipes;HP:0000113|Polycystic kidney dysplasia;HP:0000280|Coarse facial features;HP:0001252|Muscular hypotonia;HP:0000238|Hydrocephalus;HP:0003202|Skeletal muscle atrophy
mosaic trisomy 8	HP:0006191|Deep palmar crease;HP:0000028|Cryptorchidism;HP:0001274|Agenesis of corpus callosum;HP:0000470|Short neck;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0008734|Decreased testicular size;HP:0000218|High palate;HP:0001376|Limitation of joint mobility;HP:0000445|Wide nose;HP:0000455|Broad nasal tip;HP:0000490|Deeply set eye;HP:0000098|Tall stature;HP:0000347|Micrognathia;HP:0002342|Intellectual disability, moderate;HP:0002007|Frontal bossing;HP:0000126|Hydronephrosis;HP:0001053|Hypopigmented skin patches;HP:0000276|Long face;HP:0000486|Strabismus;HP:0002564|Malformation of the heart and great vessels;HP:0000316|Hypertelorism;HP:0001010|Hypopigmentation of the skin;HP:0000774|Narrow chest;HP:0000772|Abnormality of the ribs;HP:0001869|Deep plantar creases;HP:0002804|Arthrogryposis multiplex congenita;HP:0000076|Vesicoureteral reflux;HP:0000175|Cleft palate;HP:0007957|Corneal opacity;HP:0009738|Abnormality of the antihelix;HP:0002650|Scoliosis;HP:0004209|Clinodactyly of the 5th finger;HP:0000268|Dolichocephaly;HP:0006443|Patellar aplasia;HP:0000411|Protruding ear;HP:0003422|Vertebral segmentation defect;HP:0000463|Anteverted nares;HP:0003275|Narrow pelvis bone;HP:0000400|Macrotia;HP:0100490|Camptodactyly of finger;HP:0000377|Abnormality of the pinna
lujo hemorrhagic fever	HP:0000988|Skin rash;HP:0001250|Seizures;HP:0002239|Gastrointestinal hemorrhage;HP:0003326|Myalgia;HP:0002094|Dyspnea;HP:0012378|Fatigue;HP:0001259|Coma;HP:0001254|Lethargy;HP:0002014|Diarrhea;HP:0001695|Cardiac arrest;HP:0002017|Nausea and vomiting;HP:0001945|Fever;HP:0100776|Recurrent pharyngitis;HP:0002315|Headache;HP:0006554|Acute hepatic failure
crane-heise syndrome	HP:0000028|Cryptorchidism;HP:0000175|Cleft palate;HP:0000347|Micrognathia;HP:0006101|Finger syndactyly;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0001387|Joint stiffness;HP:0006660|Aplastic clavicles;HP:0000463|Anteverted nares;HP:0001762|Talipes equinovarus;HP:0002119|Ventriculomegaly;HP:0000316|Hypertelorism;HP:0001770|Toe syndactyly;HP:0000368|Low-set, posteriorly rotated ears;HP:0009882|Short distal phalanx of finger;HP:0001511|Intrauterine growth retardation;HP:0005280|Depressed nasal bridge;HP:0100569|Abnormal vertebral ossification;HP:0004331|Decreased skull ossification;HP:0000882|Hypoplastic scapulae;HP:0008736|Hypoplasia of penis
oculocutaneous albinism type 4	HP:0000639|Nystagmus;HP:0001022|Albinism;HP:0000505|Visual impairment;HP:0006739|Squamous cell carcinoma of the skin;HP:0005599|Hypopigmentation of hair;HP:0000486|Strabismus;HP:0007750|Hypoplasia of the fovea;HP:0000613|Photophobia;HP:0007730|Iris hypopigmentation;HP:0001072|Thickened skin;HP:0000587|Abnormality of the optic nerve;HP:0001010|Hypopigmentation of the skin;HP:0002861|Melanoma;HP:0002671|Basal cell carcinoma
burn-mckeown syndrome	HP:0000581|Blepharophimosis;HP:0000347|Hypoplasia of mandible;HP:0000233|Decreased volume of lip vermillion;HP:0000089|Small kidneys;HP:0000316|Increased distance between eye sockets;HP:0000453|Blockage of the rear opening of the nasal cavity;HP:0200138|Bilateral choanal atresia/stenosis;HP:0001629|Ventricular septal defects;HP:0000430|Nasal cartilage hypoplasia;HP:0001939|Laboratory abnormality;HP:0000338|Hypomimic face;HP:0000426|Protruding bridge of nose;HP:0000204|Cleft upper lip;HP:0000175|Palatoschisis;HP:0000384|Preauricular skin tag;HP:0008872|Feeding difficulties in infancy;HP:0000411|Prominent ears;HP:0012745|Decreased height of palpebral fissure;HP:0000652|Cleft lower eyelid;HP:0000322|Short philtrum;HP:0000303|Increased size of lower jaw;HP:0000405|Conductive hearing loss;HP:0000160|Small mouth;HP:0004691|partial or complete syndactyly 2nd-3rd toes;HP:0000193|Uvula bifida;HP:0001631|Atria septal defect
ichthyosis--cheek--eyebrow syndrome	HP:0002751|Kyphoscoliosis;HP:0000293|Apple cheeks;HP:0000218|Increased palatal height;HP:0000765|Abnormality of the thorax;HP:0001763|Pes planus;HP:0005338|Laterally sparse eyebrows;HP:0008064|Ichthyosis
hypertrichosis, anterior cervical	HP:0004535|Hypertrichosis, congenital anterior cervical
penile agenesis	HP:0000028|Cryptorchidism;HP:0002089|Pulmonary hypoplasia;HP:0002023|Anal atresia;HP:0003196|Short nose;HP:0100590|Rectal fistula;HP:0001629|Ventricular septal defect;HP:0006827|Atrophy of the spinal cord;HP:0000072|Hydroureter;HP:0001562|Oligohydramnios;HP:0005944|Bilateral lung agenesis;HP:0000358|Posteriorly rotated ears;HP:0002575|Tracheoesophageal fistula;HP:0005280|Depressed nasal bridge;HP:0001776|Bilateral talipes equinovarus;HP:0001631|Atrial septal defect;HP:0012732|Anorectal anomaly;HP:0010958|Bilateral renal agenesis;HP:0000052|Urethral atresia, male;HP:0000126|Hydronephrosis;HP:0030261|Absent penis;HP:0000062|Ambiguous genitalia;HP:0000800|Cystic renal dysplasia;HP:0012583|Unilateral renal hypoplasia;HP:0010945|Fetal pyelectasis;HP:0012620|Cloacal abnormality;HP:0010480|Urethral fistula;HP:0012584|Bilateral renal hypoplasia;HP:0000014|Abnormality of the bladder;HP:0009800|Maternal diabetes
ehlers-danlos syndrome due to tenascin-x deficiency	HP:0000963|Thin skin;HP:0001297|Stroke;HP:0002239|Gastrointestinal hemorrhage;HP:0001382|Joint hypermobility;HP:0002829|Arthralgia;HP:0001634|Mitral valve prolapse;HP:0000763|Sensory neuropathy;HP:0003326|Myalgia;HP:0003701|Proximal muscle weakness;HP:0001324|Muscle weakness;HP:0004416|Precocious atherosclerosis;HP:0012378|Fatigue;HP:0011675|Arrhythmia;HP:0003298|Spina bifida occulta;HP:0005692|Joint hyperflexibility;HP:0000978|Bruising susceptibility;HP:0009830|Peripheral neuropathy;HP:0001252|Muscular hypotonia;HP:0000835|Adrenal hypoplasia;HP:0000974|Hyperextensible skin;HP:0003202|Skeletal muscle atrophy
distichiasis	HP:0009743|Distichiasis of eyelid eyelashes
autoimmune hypoparathyroidism	HP:0002094|Dyspnea;HP:0000518|Cataract;HP:0011458|Abdominal symptom;HP:0002960|Autoimmunity;HP:0011771|Autoimmune hypoparathyroidism;HP:0001677|Coronary artery disease;HP:0005162|Left ventricular failure;HP:0003401|Paresthesia;HP:0012049|Laryngeal dystonia;HP:0001289|Confusion;HP:0003394|Muscle cramps;HP:0001265|Hyporeflexia;HP:0000739|Anxiety;HP:0011001|Increased bone mineral density;HP:0002905|Hyperphosphatemia;HP:0002901|Hypocalcemia;HP:0003472|Hypocalcemic tetany;HP:0001657|Prolonged QT interval;HP:0030057|Autoimmune antibody positivity;HP:0004308|Ventricular arrhythmia;HP:0004724|Calcium nephrolithiasis;HP:0100749|Chest pain;HP:0002199|Hypocalcemic seizures;HP:0000509|Conjunctivitis;HP:0000716|Depression;HP:0000737|Irritability;HP:0003739|Myoclonic spasms;HP:0002728|Chronic mucocutaneous candidiasis
histidinuria due to a renal tubular defect	HP:0002927|Histidinuria;HP:0005819|Short middle phalanges;HP:0000219|Decreased height of upper lip vermilion;HP:0000400|Large ears;HP:0002123|Myoclonus seizures;HP:0000319|Smooth philtrum;HP:0001800|Underdeveloped toenails;HP:0005844|Rounded middle bone of finger;HP:0000407|sensorineural hearing loss;HP:0000431|Broad nasal root;HP:0000343|Vertical hyperplasia of philtrum;HP:0008666|Impaired histidine renal tubular absorption;HP:0001249|Mental retardation
abruzzo-erickson syndrome	HP:0000028|Cryptorchidism;HP:0010751|Chin dimple;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0001770|Toe syndactyly;HP:0001631|Atrial septal defect;HP:0001156|Brachydactyly syndrome;HP:0000047|Hypospadias;HP:0004322|Stature below 3rd percentile;HP:0012368|Flat face;HP:0009465|Ulnar deviation of finger;HP:0000407|Sensorineural hearing impairment;HP:0000175|Palatoschisis;HP:0000612|Iris coloboma;HP:0001831|Short toe;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0000589|Coloboma;HP:0000400|Large ears;HP:0000411|Prominent ears;HP:0002974|Fused forearm bones;HP:0000589|Ocular coloboma;HP:0000272|Malar flattening;HP:0008743|Coronal hypospadias;HP:0000405|Conductive hearing impairment;HP:0002974|Radioulnar synostosis;HP:0000567|Chorioretinal coloboma;HP:0100542|Abnormal localization of kidney;HP:0000400|Macrotia;HP:0000174|Abnormality of the palate;HP:0000482|Microcornea
dimethylglycine dehydrogenase deficiency	HP:0012379|Abnormal enzyme/coenzyme activity;HP:0003236|Elevated creatine kinase;HP:0003750|Increased muscle fatiguability;HP:0001939|Abnormality of metabolism/homeostasis;HP:0003236|Elevated serum creatine phosphokinase
polyposis, gastric	HP:0004394|Multiple gastric polyps
melanoma and neural system tumor syndrome	HP:0012056|Cutaneous melanoma;HP:0009592|Astrocytoma
temtamy syndrome	HP:0001263|Global developmental delay;HP:0000568|Microphthalmia;HP:0001724|Aortic dilatation;HP:0001156|Brachydactyly syndrome;HP:0000347|Micrognathia;HP:0002970|Genu varum;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0000506|Telecanthus;HP:0000369|Low-set ears;HP:0000276|Long face;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0000612|Iris coloboma;HP:0001831|Short toe;HP:0000324|Facial asymmetry;HP:0000256|Macrocephaly;HP:0004209|Clinodactyly of the 5th finger;HP:0000268|Dolichocephaly;HP:0001249|Intellectual disability;HP:0000567|Chorioretinal coloboma;HP:0000179|Thick lower lip vermilion;HP:0000444|Convex nasal ridge;HP:0001763|Pes planus;HP:0000280|Coarse facial features;HP:0000174|Abnormality of the palate
thumb deformity	HP:0001626|Cardiovascular abnormality;HP:0009601|Absent/hypoplastic thumb
ectopia pupillae	HP:0009918|Displaced pupil
tetra-amelia	HP:0002023|Anal atresia;HP:0002089|Hypoplastic lungs;HP:0000518|Cataract;HP:0000068|Urethral atresia;HP:0000347|Hypoplasia of mandible;HP:0000042|Absent external genitalia;HP:0000453|Blockage of the rear opening of the nasal cavity;HP:0001543|Gastroschisis;HP:0001746|Absent spleen;HP:0000369|Low-set ears;HP:0000204|Cleft upper lip;HP:0000104|Renal agenesis;HP:0003057|Tetraamelia;HP:0000175|Palatoschisis;HP:0009932|Single naris;HP:0000148|Vaginal atresia;HP:0008697|Hypoplasia of the fallopian tube;HP:0001195|Single umbilical artery;HP:0005316|Peripheral pulmonary vessel aplasia;HP:0008839|Hypoplastic pelvic bones;HP:0000238|Nonsyndromal hydrocephalus;HP:0000568|Abnormally small globe of eye;HP:0000775|Diaphragmatic defect;HP:0011743|Adrenal gland agenesis
florid papillomatosis of the nipple	HP:0000951|dermatopathy
urocanase deficiency	HP:0000639|Nystagmus;HP:0004322|Stature below 3rd percentile;HP:0000635|Blue irides;HP:0001251|Ataxia;HP:0010864|Early and severe mental retardation;HP:0001337|Tremor;HP:0012237|High urine urocanic acid levels;HP:0002286|Fair hair;HP:0006887|Progressive mental retardation;HP:0000718|Aggressive behaviour
fanconi renotubular syndrome 1	HP:0002148|Hypophosphataemia;HP:0004322|Stature below 3rd percentile;HP:0002748|Rickets;HP:0002900|Hypokalemia;HP:0000124|Renal tubular defect;HP:0003076|Glucosuria;HP:0001324|Muscular weakness;HP:0003648|Lacticaciduria;HP:0000093|Proteinuria;HP:0002749|Osteomalacia;HP:0000083|Renal insufficiency
atypical werner syndrome	HP:0004322|Short stature;HP:0001601|Laryngomalacia;HP:0001838|Rocker bottom foot;HP:0002858|Meningioma;HP:0007495|Prematurely aged appearance;HP:0004950|Peripheral arterial disease;HP:0000347|Micrognathia;HP:0100013|Neoplasm of the breast;HP:0003738|Exercise-induced myalgia;HP:0200042|Skin ulcer;HP:0005328|Progeroid facial appearance;HP:0000962|Hyperkeratosis;HP:0011001|Increased bone mineral density;HP:0001508|Failure to thrive;HP:0007703|Abnormality of retinal pigmentation;HP:0001595|Abnormality of the hair;HP:0001634|Mitral valve prolapse;HP:0001596|Alopecia;HP:0011362|Abnormal hair quantity;HP:0000819|Diabetes mellitus;HP:0000831|Insulin-resistant diabetes mellitus;HP:0003202|Skeletal muscle atrophy;HP:0002211|White forelock;HP:0004054|Sclerosis of hand bone;HP:0100585|Telangiectasia of the skin;HP:0000233|Thin vermilion border;HP:0002669|Osteosarcoma;HP:0100526|Neoplasm of the lung;HP:0000822|Hypertension;HP:0002231|Sparse body hair;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0004279|Short palm;HP:0004325|Decreased body weight;HP:0100031|Neoplasm of the thyroid gland;HP:0100649|Neoplasm of the oral cavity;HP:0004361|Abnormality of circulating leptin level;HP:0001808|Fragile nails;HP:0001608|Abnormality of the voice;HP:0001397|Hepatic steatosis;HP:0009726|Renal neoplasm;HP:0008981|Calf muscle hypertrophy;HP:0000144|Decreased fertility;HP:0007509|Patchy hypo- and hyperpigmentation;HP:0000035|Abnormality of the testis;HP:0002216|Premature graying of hair;HP:0003777|Pili torti;HP:0001650|Aortic valve stenosis;HP:0008419|Intervertebral disc degeneration;HP:0001376|Limitation of joint mobility;HP:0008069|Neoplasm of the skin;HP:0000869|Secondary amenorrhea;HP:0009064|Generalized lipodystrophy;HP:0007618|Subcutaneous calcification;HP:0000275|Narrow face;HP:0000939|Osteoporosis;HP:0000519|Congenital cataract;HP:0003076|Glycosuria;HP:0000823|Delayed puberty;HP:0001385|Hip dysplasia;HP:0001015|Prominent superficial veins;HP:0005109|Abnormality of the Achilles tendon;HP:0000444|Convex nasal ridge;HP:0000765|Abnormality of the thorax;HP:0001763|Pes planus;HP:0004349|Reduced bone mineral density;HP:0005177|Premature arteriosclerosis;HP:0100833|Neoplasm of the small intestine;HP:0100659|Abnormality of the cerebral vasculature;HP:0001677|Coronary artery disease;HP:0004414|Abnormality of the pulmonary artery;HP:0000135|Hypogonadism;HP:0001635|Congestive heart failure;HP:0000963|Thin skin;HP:0003074|Hyperglycemia;HP:0000934|Chondrocalcinosis;HP:0010721|Abnormal hair whorl;HP:0002155|Hypertriglyceridemia;HP:0100578|Lipoatrophy;HP:0004380|Aortic valve calcification;HP:0009771|Osteolytic defects of the phalanges of the hand;HP:0008283|Fasting hyperinsulinemia;HP:0040019|Finger clinodactyly;HP:0005978|Type II diabetes mellitus;HP:0008209|Premature ovarian failure;HP:0000842|Hyperinsulinemia;HP:0100615|Ovarian neoplasm;HP:0000905|Progressive clavicular acroosteolysis;HP:0100679|Lack of skin elasticity;HP:0000546|Retinal degeneration;HP:0008065|Aplasia/Hypoplasia of the skin
dominant beta-thalassemia	HP:0001744|Splenomegaly;HP:0011902|Abnormal hemoglobin;HP:0000952|Jaundice;HP:0000980|Pallor;HP:0001903|Anemia;HP:0001935|Microcytic anemia
6q terminal deletion syndrome	HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0001357|Plagiocephaly;HP:0000470|Short neck;HP:0008947|Infantile muscular hypotonia;HP:0001310|Dysmetria;HP:0002079|Hypoplasia of the corpus callosum;HP:0002553|Highly arched eyebrow;HP:0005487|Prominent metopic ridge;HP:0006712|Aplasia/Hypoplasia of the ribs;HP:0001321|Cerebellar hypoplasia;HP:0012745|Short palpebral fissure;HP:0001741|Phimosis;HP:0000750|Delayed speech and language development;HP:0002269|Abnormality of neuronal migration;HP:0000047|Hypospadias;HP:0000347|Micrognathia;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0002066|Gait ataxia;HP:0030084|Clinodactyly;HP:0002521|Hypsarrhythmia;HP:0000540|Hypermetropia;HP:0012471|Thick vermilion border;HP:0002538|Abnormality of the cerebral cortex;HP:0001256|Intellectual disability, mild;HP:0002282|Heterotopia;HP:0000962|Hyperkeratosis;HP:0001250|Seizures;HP:0000771|Gynecomastia;HP:0001884|Talipes calcaneovalgus;HP:0000256|Macrocephaly;HP:0001822|Hallux valgus;HP:0000294|Low anterior hairline;HP:0001388|Joint laxity;HP:0002650|Scoliosis;HP:0001999|Abnormal facial shape;HP:0001508|Failure to thrive;HP:0000268|Dolichocephaly;HP:0006610|Wide intermamillary distance;HP:0002705|High, narrow palate;HP:0001513|Obesity;HP:0002126|Polymicrogyria;HP:0030048|Colpocephaly;HP:0000368|Low-set, posteriorly rotated ears;HP:0002500|Abnormality of the cerebral white matter;HP:0007165|Periventricular gray matter heterotopia;HP:0000289|Broad philtrum;HP:0011220|Prominent forehead
acral self-healing collodion baby	HP:0008064|Ichthyosis
2q32q33 microdeletion syndrome	HP:0001263|Global developmental delay;HP:0000160|Narrow mouth;HP:0010864|Intellectual disability, severe;HP:0004322|Short stature;HP:0002213|Fine hair;HP:0001166|Arachnodactyly;HP:0000248|Brachycephaly;HP:0008734|Decreased testicular size;HP:0000233|Thin vermilion border;HP:0000678|Dental crowding;HP:0000218|High palate;HP:0000750|Delayed speech and language development;HP:0000347|Micrognathia;HP:0100024|Conspicuously happy disposition;HP:0000369|Low-set ears;HP:0000276|Long face;HP:0000486|Strabismus;HP:0001762|Talipes equinovarus;HP:0000343|Long philtrum;HP:0005692|Joint hyperflexibility;HP:0000718|Aggressive behavior;HP:0000739|Anxiety;HP:0000677|Oligodontia;HP:0011968|Feeding difficulties;HP:0001510|Growth delay;HP:0000494|Downslanted palpebral fissures;HP:0000175|Cleft palate;HP:0000324|Facial asymmetry;HP:0000252|Microcephaly;HP:0001863|Toe clinodactyly;HP:0008070|Sparse hair;HP:0007018|Attention deficit hyperactivity disorder;HP:0004209|Clinodactyly of the 5th finger;HP:0010059|Broad hallux phalanx;HP:0002360|Sleep disturbance;HP:0000717|Autism;HP:0000426|Prominent nasal bridge;HP:0000348|High forehead;HP:0000444|Convex nasal ridge;HP:0000463|Anteverted nares;HP:0011304|Broad thumb;HP:0002546|Incomprehensible speech;HP:0001252|Muscular hypotonia
behavioral variant of frontotemporal dementia	HP:0000757|Lack of insight;HP:0001268|Mental deterioration;HP:0002354|Memory impairment;HP:0000474|Thickened nuchal skin fold;HP:0030213|Emotional blunting;HP:0000719|Inappropriate behavior;HP:0000710|Hyperorality;HP:0030223|Perseveration;HP:0002380|Fasciculations;HP:0000733|Stereotypy;HP:0010522|Dyslexia;HP:0000718|Aggressive behavior;HP:0030212|Collectionism;HP:0002371|Loss of speech;HP:0000711|Restlessness;HP:0002446|Astrocytosis;HP:0002145|Frontotemporal dementia;HP:0000708|Behavioral abnormality;HP:0002071|Abnormality of extrapyramidal motor function;HP:0011204|EEG with continuous slow activity;HP:0006892|Frontotemporal cerebral atrophy;HP:0001288|Gait disturbance;HP:0012671|Abulia;HP:0000741|Apathy;HP:0000709|Psychosis;HP:0002300|Mutism;HP:0012658|Abnormal brain FDG positron emission tomography;HP:0002069|Generalized tonic-clonic seizures;HP:0000751|Personality changes;HP:0002465|Poor speech;HP:0010529|Echolalia;HP:0010526|Dysgraphia;HP:0002493|Upper motor neuron dysfunction;HP:0001347|Hyperreflexia;HP:0002357|Dysphasia;HP:0002442|Dyscalculia;HP:0000737|Irritability;HP:0002500|Abnormality of the cerebral white matter;HP:0000734|Disinhibition;HP:0000723|Restrictive behavior
6q25 microdeletion syndrome	HP:0001263|Global developmental delay;HP:0001274|Agenesis of corpus callosum;HP:0001357|Plagiocephaly;HP:0004322|Short stature;HP:0002119|Ventriculomegaly;HP:0001838|Rocker bottom foot;HP:0000218|High palate;HP:0000582|Upslanted palpebral fissure;HP:0000347|Micrognathia;HP:0002564|Malformation of the heart and great vessels;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0000407|Sensorineural hearing impairment;HP:0000494|Downslanted palpebral fissures;HP:0001256|Intellectual disability, mild;HP:0000478|Abnormality of the eye;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0003241|External genital hypoplasia;HP:0000252|Microcephaly;HP:0001508|Failure to thrive;HP:0000272|Malar flattening;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0001319|Neonatal hypotonia;HP:0000504|Abnormality of vision;HP:0100490|Camptodactyly of finger;HP:0000368|Low-set, posteriorly rotated ears;HP:0012639|Abnormality of nervous system morphology;HP:0000377|Abnormality of the pinna;HP:0001252|Muscular hypotonia
5q35 microduplication syndrome	HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0002750|Delayed skeletal maturation;HP:0004322|Short stature;HP:0000545|Myopia;HP:0000252|Microcephaly;HP:0001328|Specific learning disability;HP:0001510|Growth delay;HP:0001249|Intellectual disability
2p15p16.1 microdeletion syndrome	HP:0001263|Global developmental delay;HP:0000160|Narrow mouth;HP:0005487|Prominent metopic ridge;HP:0000535|Sparse eyebrow;HP:0000581|Blepharophimosis;HP:0001601|Laryngomalacia;HP:0002015|Dysphagia;HP:0002119|Ventriculomegaly;HP:0000365|Hearing impairment;HP:0002213|Fine hair;HP:0000248|Brachycephaly;HP:0001321|Cerebellar hypoplasia;HP:0000527|Long eyelashes;HP:0001659|Aortic regurgitation;HP:0000218|High palate;HP:0001290|Generalized hypotonia;HP:0008734|Decreased testicular size;HP:0000232|Everted lower lip vermilion;HP:0000767|Pectus excavatum;HP:0002999|Patellar dislocation;HP:0000508|Ptosis;HP:0001260|Dysarthria;HP:0000135|Hypogonadism;HP:0000750|Delayed speech and language development;HP:0002205|Recurrent respiratory infections;HP:0000098|Tall stature;HP:0001653|Mitral regurgitation;HP:0007598|Bilateral single transverse palmar creases;HP:0002342|Intellectual disability, moderate;HP:0000506|Telecanthus;HP:0005274|Prominent nasal tip;HP:0000126|Hydronephrosis;HP:0000369|Low-set ears;HP:0000486|Strabismus;HP:0002558|Supernumerary nipple;HP:0000343|Long philtrum;HP:0001852|Sandal gap;HP:0001561|Polyhydramnios;HP:0001511|Intrauterine growth retardation;HP:0011968|Feeding difficulties;HP:0001510|Growth delay;HP:0000494|Downslanted palpebral fissures;HP:0002353|EEG abnormality;HP:0000286|Epicanthus;HP:0000771|Gynecomastia;HP:0000003|Multicystic kidney dysplasia;HP:0000729|Autistic behavior;HP:0001288|Gait disturbance;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0000319|Smooth philtrum;HP:0001182|Tapered finger;HP:0001863|Toe clinodactyly;HP:0002808|Kyphosis;HP:0001508|Failure to thrive;HP:0000648|Optic atrophy;HP:0007018|Attention deficit hyperactivity disorder;HP:0000431|Wide nasal bridge;HP:0100625|Enlarged thorax;HP:0000023|Inguinal hernia;HP:0006610|Wide intermamillary distance;HP:0000278|Retrognathia;HP:0000609|Optic nerve hypoplasia;HP:0000717|Autism;HP:0000411|Protruding ear;HP:0000426|Prominent nasal bridge;HP:0000341|Narrow forehead;HP:0000505|Visual impairment;HP:0000348|High forehead;HP:0010628|Facial palsy;HP:0001840|Metatarsus adductus;HP:0100490|Camptodactyly of finger;HP:0001763|Pes planus;HP:0001252|Muscular hypotonia;HP:0001611|Nasal speech;HP:0002061|Lower limb spasticity;HP:0000340|Sloping forehead
2q31.1 microdeletion syndrome	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0000470|Short neck;HP:0000520|Proptosis;HP:0000588|Optic nerve coloboma;HP:0000568|Microphthalmia;HP:0005487|Prominent metopic ridge;HP:0004322|Short stature;HP:0001629|Ventricular septal defect;HP:0002119|Ventriculomegaly;HP:0001770|Toe syndactyly;HP:0012745|Short palpebral fissure;HP:0000233|Thin vermilion border;HP:0000243|Trigonocephaly;HP:0000232|Everted lower lip vermilion;HP:0005916|Abnormal metacarpal morphology;HP:0000508|Ptosis;HP:0001631|Atrial septal defect;HP:0002463|Language impairment;HP:0001156|Brachydactyly syndrome;HP:0000347|Micrognathia;HP:0006101|Finger syndactyly;HP:0000369|Low-set ears;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0001852|Sandal gap;HP:0100257|Ectrodactyly;HP:0002120|Cerebral cortical atrophy;HP:0004279|Short palm;HP:0002714|Downturned corners of mouth;HP:0000612|Iris coloboma;HP:0000494|Downslanted palpebral fissures;HP:0001773|Short foot;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0000324|Facial asymmetry;HP:0000589|Coloboma;HP:0002997|Abnormality of the ulna;HP:0000275|Narrow face;HP:0000252|Microcephaly;HP:0000294|Low anterior hairline;HP:0001182|Tapered finger;HP:0002650|Scoliosis;HP:0000664|Synophrys;HP:0002808|Kyphosis;HP:0002991|Abnormality of the fibula;HP:0002992|Abnormality of the tibia;HP:0004209|Clinodactyly of the 5th finger;HP:0001595|Abnormality of the hair;HP:0000023|Inguinal hernia;HP:0010059|Broad hallux phalanx;HP:0001249|Intellectual disability;HP:0001800|Hypoplastic toenails;HP:0000864|Abnormality of the hypothalamus-pituitary axis;HP:0003422|Vertebral segmentation defect;HP:0002750|Delayed skeletal maturation;HP:0100490|Camptodactyly of finger;HP:0000280|Coarse facial features;HP:0001252|Muscular hypotonia;HP:0000414|Bulbous nose;HP:0002002|Deep philtrum
fried syndrome	HP:0001317|Abnormality of the cerebellum;HP:0000322|Short philtrum;HP:0001263|Global developmental delay;HP:0000729|Autistic behavior;HP:0001288|Gait disturbance;HP:0002342|Intellectual disability, moderate;HP:0000276|Long face;HP:0002650|Scoliosis;HP:0000365|Hearing impairment;HP:0000400|Macrotia;HP:0002514|Cerebral calcification;HP:0000280|Coarse facial features;HP:0000587|Abnormality of the optic nerve;HP:0001264|Spastic diplegia;HP:0000218|High palate;HP:0000718|Aggressive behavior;HP:0001252|Muscular hypotonia;HP:0000238|Hydrocephalus;HP:0003202|Skeletal muscle atrophy;HP:0002465|Poor speech;HP:0002684|Thickened calvaria
peritoneal cystic mesothelioma	HP:0003270|Abdominal distention;HP:0000132|Menorrhagia;HP:0002664|Neoplasm;HP:0100608|Metrorrhagia;HP:0002019|Constipation;HP:0002027|Abdominal pain;HP:0001824|Weight loss;HP:0030016|Dyspareunia;HP:0002586|Peritonitis
5q14.3 microdeletion syndrome	HP:0010864|Intellectual disability, severe;HP:0002079|Hypoplasia of the corpus callosum;HP:0003196|Short nose;HP:0002119|Ventriculomegaly;HP:0001770|Toe syndactyly;HP:0000337|Broad forehead;HP:0000750|Delayed speech and language development;HP:0000490|Deeply set eye;HP:0000582|Upslanted palpebral fissure;HP:0000486|Strabismus;HP:0000733|Stereotypy;HP:0000574|Thick eyebrow;HP:0000194|Open mouth;HP:0011968|Feeding difficulties;HP:0001250|Seizures;HP:0000729|Autistic behavior;HP:0000609|Optic nerve hypoplasia;HP:0000322|Short philtrum;HP:0006913|Frontal cortical atrophy;HP:0000348|High forehead;HP:0000463|Anteverted nares;HP:0012639|Abnormality of nervous system morphology;HP:0001252|Muscular hypotonia;HP:0002335|Agenesis of cerebellar vermis
1q44 microdeletion syndrome	HP:0001263|Global developmental delay;HP:0001274|Agenesis of corpus callosum;HP:0010864|Intellectual disability, severe;HP:0005487|Prominent metopic ridge;HP:0004322|Short stature;HP:0002119|Ventriculomegaly;HP:0000233|Thin vermilion border;HP:0000218|High palate;HP:0000750|Delayed speech and language development;HP:0000582|Upslanted palpebral fissure;HP:0000347|Micrognathia;HP:0000506|Telecanthus;HP:0002007|Frontal bossing;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0000384|Preauricular skin tag;HP:0000076|Vesicoureteral reflux;HP:0001510|Growth delay;HP:0000286|Epicanthus;HP:0002263|Exaggerated cupid's bow;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0000319|Smooth philtrum;HP:0000664|Synophrys;HP:0002069|Generalized tonic-clonic seizures;HP:0000085|Horseshoe kidney;HP:0000348|High forehead;HP:0002566|Intestinal malrotation;HP:0004422|Biparietal narrowing;HP:0007766|Optic disc hypoplasia;HP:0001252|Muscular hypotonia;HP:0000238|Hydrocephalus;HP:0001671|Abnormality of the cardiac septa
secondary intestinal lymphangiectasia	HP:0010741|Edema of the lower limbs;HP:0002202|Pleural effusion;HP:0002664|Neoplasm;HP:0001369|Arthritis;HP:0001581|Recurrent skin infections;HP:0002901|Hypocalcemia;HP:0002960|Autoimmunity;HP:0003075|Hypoproteinemia;HP:0001072|Thickened skin;HP:0001888|Lymphopenia;HP:0004313|Decreased antibody level in blood;HP:0100763|Abnormality of the lymphatic system;HP:0012281|Chylous ascites;HP:0001004|Lymphedema;HP:0002024|Malabsorption
cranio-osteoarthropathy	HP:0002829|Arthralgia;HP:0001369|Arthritis;HP:0000239|Large fontanelles;HP:0001387|Joint stiffness;HP:0001386|Joint swelling;HP:0003103|Abnormal cortical bone morphology;HP:0000929|Abnormality of the skull;HP:0002758|Osteoarthritis;HP:0000964|Eczema;HP:0002992|Abnormality of the tibia;HP:0100760|Clubbing of toes;HP:0004097|Deviation of finger;HP:0001070|Mottled pigmentation;HP:0002815|Abnormality of the knee
bnar syndrome	HP:0010322|Abnormality of the 5th toe;HP:0002025|Anal stenosis;HP:0001545|Anteriorly placed anus;HP:0012252|Abnormal respiratory system morphology;HP:0011803|Bifid nose;HP:0000104|Renal agenesis;HP:0000200|Short lingual frenulum
syndactyly type 3	HP:0010705|4-5 finger syndactyly;HP:0001831|Short toe;HP:0006101|Finger syndactyly;HP:0100490|Camptodactyly of finger;HP:0009162|Absent middle bone of pinky finger;HP:0009237|Short little finger
congenital horner syndrome	HP:0000490|Sunken eyes;HP:0001100|Heterochromia irides;HP:0006837|Congenital Horner syndrome;HP:0007451|Ipsilateral lack of facial sweating
epidermolysis bullosa simplex due to plakophilin deficiency	HP:0010783|Erythema;HP:0001597|Abnormality of the nail;HP:0000962|Hyperkeratosis;HP:0001596|Alopecia;HP:0000221|Furrowed tongue;HP:0000958|Dry skin;HP:0001006|Hypotrichosis;HP:0002721|Immunodeficiency;HP:0002028|Chronic diarrhea;HP:0000498|Blepharitis;HP:0000561|Absent eyelashes;HP:0000989|Pruritus;HP:0001508|Failure to thrive;HP:0200042|Skin ulcer;HP:0002224|Woolly hair;HP:0200037|Skin vesicle;HP:0000982|Palmoplantar keratoderma;HP:0000534|Abnormality of the eyebrow
maxillonasal dysplasia	HP:0011800|Midface retrusion;HP:0000175|Cleft palate;HP:0000691|Microdontia;HP:0001065|Striae distensae;HP:0000457|Depressed nasal ridge;HP:0000303|Mandibular prognathia;HP:0005288|Abnormality of the nares;HP:0008428|Vertebral clefting;HP:0000327|Hypoplasia of the maxilla;HP:0003196|Short nose;HP:0002650|Scoliosis;HP:0010807|Open bite;HP:0012368|Flat face;HP:0004609|Patchy distortion of vertebrae;HP:0005280|Depressed nasal bridge;HP:0010185|Aplasia/Hypoplasia of the distal phalanges of the toes;HP:0011892|Vitamin K deficiency;HP:0002000|Short columella;HP:0009882|Short distal phalanx of finger;HP:0009804|Reduced number of teeth
autosomal dominant charcot-marie-tooth disease type 2b	HP:0001810|Dystrophic toenail;HP:0001886|Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet);HP:0003376|'steppage' gait;HP:0003431|Decreased motor nerve conduction velocities;HP:0001765|Hammertoes;HP:0009027|Foot drop;HP:0003693|Muscle atrophy, distal;HP:0001265|Decreased tendon reflexes;HP:0001868|Autoamputation of foot;HP:0001284|Areflexia;HP:0001763|Pes planus;HP:0003384|Peripheral axonal atrophy;HP:0003380|Decreased number of peripheral myelinated nerve fibers;HP:0002460|Weakness of distal muscles;HP:0003378|Axonal degeneration/regeneration;HP:0001761|Pes cavus
annular epidermolytic ichthyosis	HP:0010783|Erythema;HP:0000972|Thick palms and soles;HP:0007475|Epidermolytic hyperkeratosis
gustatory sweating	HP:0000975|Increased sweating
type i mucolipidosis	HP:0000639|Nystagmus;HP:0002240|Enlarged liver;HP:0001310|Dysmetria;HP:0000518|Cataract;HP:0000943|Dysostosis multiplex;HP:0001336|Myoclonic jerks;HP:0000093|Proteinuria;HP:0001789|Hydrops fetalis;HP:0000282|Facial puffiness;HP:0004322|Stature below 3rd percentile;HP:0000529|Slowly progressive visual loss;HP:0001541|Ascites;HP:0001249|Mental retardation;HP:0003461|Increased urinary O-linked sialopeptides;HP:0012061|Urinary excretion of sialylated oligosaccharides;HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0003202|Neurogenic muscle atrophy, especially in the lower limbs;HP:0001350|Slurred speech;HP:0001324|Muscular weakness;HP:0004333|Bone marrow foam cells;HP:0000023|Inguinal hernia;HP:0001638|Cardiomyopathy;HP:0010655|Stippled epiphyses;HP:0001744|Splenomegaly;HP:0001922|Vacuolated blood lymphocytes;HP:0001347|Hyperreflexia;HP:0010729|Macular cherry red spot;HP:0000407|sensorineural hearing loss;HP:0000280|Coarse facial features;HP:0001640|Increased heart size
acromesomelic dysplasia, grebe type	HP:0008873|Disproportionate short-limb short stature;HP:0001831|Short toe;HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0006487|Bowing of the long bones;HP:0002652|Skeletal dysplasia;HP:0008368|Tarsal synostosis;HP:0005048|Synostosis of carpal bones;HP:0005736|Short tibia;HP:0001387|Joint stiffness;HP:0100387|Aplasia of the middle phalanges of the toes;HP:0100242|Sarcoma;HP:0001162|Postaxial hand polydactyly;HP:0001522|Death in infancy;HP:0005914|Aplasia/Hypoplasia involving the metacarpal bones;HP:0003038|Fibular hypoplasia;HP:0002983|Micromelia;HP:0001773|Short foot;HP:0001156|Brachydactyly syndrome
cerebral palsy, ataxic, autosomal recessive	HP:0000666|Horizontal nystagmus;HP:0002075|Dysdiadochokinesis;HP:0100021|Cerebral palsy;HP:0001272|Cerebellar atrophy;HP:0002136|Wide-based gait;HP:0001260|Dysarthric speech;HP:0001270|Motor retardation
hypomagnesemia 1, intestinal	HP:0001281|Tetany;HP:0001250|Seizures;HP:0002901|Hypocalcemia;HP:0002917|Low blood magnesium levels
corneal dystrophy, thiel-behnke type	HP:0001131|Corneal dystrophy;HP:0000559|Corneal scarring;HP:0000613|Extreme light sensitivity;HP:0007755|Juvenile epithelial corneal dystrophy
bulbo-spinal atrophy, x-linked	HP:0002015|Swallowing difficulty;HP:0000153|Abnormal mouth;HP:0000763|Sensory neuropathy;HP:0002380|Muscle twitch;HP:0003236|Elevated creatine kinase;HP:0001265|Decreased tendon reflexes;HP:0008981|Increased size of calf muscles;HP:0000771|Gynaecomastia;HP:0001337|Tremor;HP:0001283|Bulbar palsies;HP:0003394|Muscle cramps;HP:0003690|Limb weakness;HP:0009830|Peripheral neuritis;HP:0000029|Testicular degeneration;HP:0001260|Dysarthric speech;HP:0000144|Decreased fertility
spondylometaphyseal dysplasia, sedaghatian type	HP:0004991|Rhizomelic arm shortening;HP:0001274|Agenesis of corpus callosum;HP:0000262|Turricephaly;HP:0008786|Iliac crest serration;HP:0003498|Disproportionate short stature;HP:0001321|Cerebellar hypoplasia;HP:0001290|Generalized hypotonia;HP:0005871|Metaphyseal chondrodysplasia;HP:0000774|Narrow chest;HP:0004279|Short palm;HP:0000772|Abnormality of the ribs;HP:0001302|Pachygyria;HP:0010049|Short metacarpal;HP:0003085|Long fibula;HP:0002657|Spondylometaphyseal dysplasia;HP:0002093|Respiratory insufficiency;HP:0011675|Arrhythmia;HP:0012819|Myocarditis;HP:0000926|Platyspondyly;HP:0000782|Abnormality of the scapula;HP:0005616|Accelerated skeletal maturation;HP:0002750|Delayed skeletal maturation;HP:0001678|Atrioventricular block;HP:0006543|Cardiorespiratory arrest;HP:0010579|Cone-shaped epiphysis
spondylometaphyseal dysplasia, kozlowski type	HP:0000470|Short neck;HP:0004322|Short stature;HP:0005930|Abnormality of epiphysis morphology;HP:0005280|Depressed nasal bridge;HP:0001376|Limitation of joint mobility;HP:0003311|Hypoplasia of the odontoid process;HP:0010306|Short thorax;HP:0001156|Brachydactyly syndrome;HP:0003015|Flared metaphysis;HP:0000774|Narrow chest;HP:0003037|Enlarged joints;HP:0002657|Spondylometaphyseal dysplasia;HP:0001288|Gait disturbance;HP:0006660|Aplastic clavicles;HP:0002650|Scoliosis;HP:0002808|Kyphosis;HP:0000926|Platyspondyly;HP:0002857|Genu valgum;HP:0002812|Coxa vara;HP:0000348|High forehead;HP:0002750|Delayed skeletal maturation;HP:0000768|Pectus carinatum
pneumothorax, primary spontaneous	HP:0002108|Spontaneous pneumothorax
ocular motor apraxia	HP:0006961|Jerking head movements;HP:0000657|Oculomotor apraxia;HP:0008026|Horizontal opticokinetic nystagmus
spastic paraplegia 2, x-linked	HP:0000639|Nystagmus;HP:0001249|Mental retardation;HP:0001310|Dysmetria;HP:0002503|Spinocerebellar tract degeneration;HP:0001371|Flexion contractures of joints;HP:0001347|Hyperreflexia;HP:0002064|Spastic gait;HP:0003202|Neurogenic muscle atrophy, especially in the lower limbs;HP:0001258|Spastic paraplegia, lower limb;HP:0001761|Pes cavus;HP:0007340|Lower limb weakness;HP:0003487|Extensor plantar reflexes;HP:0002313|Spastic paraparesis;HP:0002314|Degeneration of the lateral corticospinal tracts;HP:0001260|Dysarthric speech;HP:0002061|Lower limb spasticity;HP:0000648|Optic-nerve degeneration
ehlers-danlos syndrome, periodontitis type	HP:0001075|Atrophic scars;HP:0000691|Microdontia;HP:0000347|Micrognathia;HP:0000704|Periodontitis;HP:0004322|Short stature;HP:0005692|Joint hyperflexibility;HP:0001034|Hypermelanotic macule;HP:0006349|Agenesis of permanent teeth;HP:0000212|Gingival overgrowth;HP:0006308|Atrophy of alveolar ridges;HP:0000974|Hyperextensible skin;HP:0006323|Premature loss of primary teeth
microphthalmia, syndromic 3	HP:0000044|Hypogonadotrophic hypogonadism;HP:0000028|Cryptorchidism;HP:0003316|Butterfly vertebrae;HP:0002079|Hypoplasia of the corpus callosum;HP:0002948|Fusion of vertebral bodies;HP:0001274|Absent corpus callosum;HP:0002032|Esophageal atresia;HP:0000921|Absent ribs;HP:0001629|Ventricular septal defects;HP:0002444|Hypothalamic hamartoma;HP:0000047|Hypospadias;HP:0004322|Stature below 3rd percentile;HP:0008897|Growth retardation as children;HP:0001264|Spastic diplegia;HP:0005815|Supernumerary ribs;HP:0002007|Frontal protruberance;HP:0010627|Anterior pituitary hypoplasia;HP:0008417|Vertebral hypoplasia;HP:0001252|Hypotonia;HP:0000252|Small head circumference;HP:0001263|Developmental retardation;HP:0000528|Absence of eyeballs;HP:0001643|Persistent ductus arteriosus;HP:0000589|Ocular coloboma;HP:0000902|Rib fusion;HP:0000609|Optic nerve hypoplasia;HP:0002937|Hemivertebra;HP:0002510|Spastic quadriplegia;HP:0000568|Abnormally small globe of eye;HP:0001328|Specific learning disability;HP:0000407|sensorineural hearing loss;HP:0000054|Short penis
epidermolysis bullosa herpetiformis, dowling-meara type	HP:0008066|Skin bullae;HP:0000972|Thick palms and soles;HP:0001510|Growth deficiency;HP:0001056|Milia;HP:0002164|Nail dysplasia;HP:0008404|Dystrophic nails;HP:0001075|Thin, atrophic scars
epidermolysis bullosa simplex, weber-cockayne type	HP:0001056|Milia;HP:0000962|Hyperkeratosis;HP:0007446|Palmoplantar blistering
thanatophoric dysplasia, type i	HP:0000256|Macrocrania;HP:0003026|shortened long tubular bones;HP:0004565|Severe platyspondyly;HP:0001561|Hydramnios;HP:0006584|Small abnormally formed scapulae;HP:0002677|Narrow foramen magnum;HP:0002676|Cloverleaf skull;HP:0003025|Frayed, irregular metaphyses;HP:0003510|Proportionate dwarfism;HP:0002007|Frontal protruberance;HP:0003015|Metaphyseal splaying;HP:0006487|Camptomelia;HP:0002282|Heterotopias;HP:0001252|Hypotonia;HP:0001263|Developmental retardation;HP:0000773|Rib hypoplasia;HP:0000774|Low chest circumference;HP:0000910|Wide-cupped costochondral junctions;HP:0000946|Small iliac bones;HP:0001558|Decreased fetal movement;HP:0002187|Intellectual disability, profound;HP:0003185|Small sacroiliac notch;HP:0008909|Lethal short-limbed dwarfism;HP:0000238|Nonsyndromal hydrocephalus;HP:0000274|Hypoplasia of face;HP:0002093|progressive respiratory failure
fibromatosis, gingival, 1	HP:0000169|Gingival fibrous nodules
cholestasis, progressive familial intrahepatic 1	HP:0002240|Enlarged liver;HP:0000952|Yellow skin;HP:0001744|Splenomegaly;HP:0001046|Intermittent jaundice;HP:0001733|Pancreatic inflammation;HP:0002014|Diarrhea;HP:0000365|Hearing impairment;HP:0002908|Conjugated hyperbilirubinemia;HP:0002630|Fat malabsorption;HP:0003510|Proportionate dwarfism;HP:0001394|Hepatic cirrhosis;HP:0001508|Weight faltering;HP:0006575|Intrahepatic cholestasis with episodic jaundice;HP:0000989|pruritis
diabetes and deafness, maternally inherited	HP:0001133|Depressed visual field;HP:0001250|Seizures;HP:0000508|Drooping upper eyelid;HP:0000544|CPEO;HP:0002321|Vertigo;HP:0001146|Retinal pigmentary degeneration;HP:0000407|sensorineural hearing loss;HP:0002317|Unsteady walk;HP:0003074|High blood glucose;HP:0000546|Retinal degeneration;HP:0001260|Dysarthric speech;HP:0001638|Cardiomyopathy;HP:0005978|Noninsulin dependent diabetes mellitus
anosmia, isolated congenital	HP:0000458|Anosmia
corneal dystrophy, lattice type i	HP:0001149|Lattice corneal dystrophy;HP:0000495|Recurrent corneal erosions;HP:0000529|Slowly progressive visual loss
thyroid ectopia	HP:0001263|Global developmental delay;HP:0003270|Abdominal distention;HP:0010864|Intellectual disability, severe;HP:0000239|Large fontanelles;HP:0001324|Muscle weakness;HP:0001537|Umbilical hernia;HP:0004322|Short stature;HP:0002019|Constipation;HP:0000158|Macroglossia;HP:0000280|Coarse facial features;HP:0001510|Growth delay;HP:0001252|Muscular hypotonia;HP:0000952|Jaundice;HP:0100028|Ectopic thyroid;HP:0000821|Hypothyroidism;HP:0100786|Hypersomnia;HP:0000820|Abnormality of the thyroid gland;HP:0000271|Abnormality of the face
nevus comedonicus syndrome	HP:0001052|Nevus flammeus;HP:0001250|Seizures;HP:0100258|Preaxial polydactyly;HP:0006101|Finger syndactyly;HP:0010566|Hamartoma;HP:0000518|Cataract;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0003298|Spina bifida occulta;HP:0003468|Abnormality of the vertebrae;HP:0025249|Comedo;HP:0001770|Toe syndactyly;HP:0001760|Abnormality of the foot;HP:0001595|Abnormality of the hair;HP:0002414|Spina bifida;HP:0008064|Ichthyosis
autosomal dominant cutis laxa	HP:0005222|Bowel diverticulosis;HP:0100678|Premature skin wrinkling;HP:0001537|Umbilical hernia;HP:0000973|Cutis laxa;HP:0001582|Redundant skin;HP:0000293|Full cheeks;HP:0001654|Abnormality of the heart valves;HP:0002097|Emphysema;HP:0000316|Hypertelorism;HP:0004942|Aortic aneurysm;HP:0005692|Joint hyperflexibility;HP:0100790|Hernia;HP:0007495|Prematurely aged appearance;HP:0001642|Pulmonic stenosis;HP:0000023|Inguinal hernia
athyreosis	HP:0001263|Global developmental delay;HP:0003270|Abdominal distention;HP:0010864|Intellectual disability, severe;HP:0000239|Large fontanelles;HP:0001324|Muscle weakness;HP:0004322|Short stature;HP:0012378|Fatigue;HP:0002019|Constipation;HP:0000158|Macroglossia;HP:0008191|Thyroid agenesis;HP:0000280|Coarse facial features;HP:0001510|Growth delay;HP:0001252|Muscular hypotonia;HP:0000821|Hypothyroidism;HP:0100786|Hypersomnia;HP:0011968|Feeding difficulties;HP:0000271|Abnormality of the face
pfeiffer syndrome type 2	HP:0001263|Global developmental delay;HP:0000520|Proptosis;HP:0002023|Anal atresia;HP:0003196|Short nose;HP:0001601|Laryngomalacia;HP:0000453|Choanal atresia;HP:0001770|Toe syndactyly;HP:0000218|High palate;HP:0005280|Depressed nasal bridge;HP:0001376|Limitation of joint mobility;HP:0000572|Visual loss;HP:0002098|Respiratory distress;HP:0006101|Finger syndactyly;HP:0010109|Short hallux;HP:0002676|Cloverleaf skull;HP:0000369|Low-set ears;HP:0009603|Deviation of the thumb;HP:0000316|Hypertelorism;HP:0002516|Increased intracranial pressure;HP:0002308|Arnold-Chiari malformation;HP:0002779|Tracheomalacia;HP:0001773|Short foot;HP:0008080|Hallux varus;HP:0000413|Atresia of the external auditory canal;HP:0001250|Seizures;HP:0000175|Cleft palate;HP:0000272|Malar flattening;HP:0010059|Broad hallux phalanx;HP:0200055|Small hand;HP:0001249|Intellectual disability;HP:0000348|High forehead;HP:0002410|Aqueductal stenosis;HP:0011304|Broad thumb;HP:0002566|Intestinal malrotation;HP:0000238|Hydrocephalus
familial hypospadias	HP:0000047|Hypospadias
trisomy 1q	HP:0000028|Cryptorchidism;HP:0000160|Narrow mouth;HP:0001274|Agenesis of corpus callosum;HP:0002023|Anal atresia;HP:0000356|Abnormality of the outer ear;HP:0001629|Ventricular septal defect;HP:0002119|Ventriculomegaly;HP:0001166|Arachnodactyly;HP:0001770|Toe syndactyly;HP:0001321|Cerebellar hypoplasia;HP:0000601|Hypotelorism;HP:0005280|Depressed nasal bridge;HP:0000445|Wide nose;HP:0010306|Short thorax;HP:0001789|Hydrops fetalis;HP:0001833|Long foot;HP:0008386|Aplasia/Hypoplasia of the nails;HP:0002007|Frontal bossing;HP:0000126|Hydronephrosis;HP:0000369|Low-set ears;HP:0000316|Hypertelorism;HP:0001643|Patent ductus arteriosus;HP:0001561|Polyhydramnios;HP:0000772|Abnormality of the ribs;HP:0000062|Ambiguous genitalia;HP:0000494|Downslanted palpebral fissures;HP:0000476|Cystic hygroma;HP:0008676|Congenital megaureter;HP:0000175|Cleft palate;HP:0000003|Multicystic kidney dysplasia;HP:0001177|Preaxial hand polydactyly;HP:0000256|Macrocephaly;HP:0000528|Anophthalmia;HP:0001539|Omphalocele;HP:0000046|Scrotal hypoplasia;HP:0006610|Wide intermamillary distance;HP:0001800|Hypoplastic toenails;HP:0010880|Increased nuchal translucency;HP:0000308|Microretrognathia;HP:0100490|Camptodactyly of finger;HP:0000238|Hydrocephalus;HP:0000776|Congenital diaphragmatic hernia
atrial septal defect with atrioventricular conduction defects	HP:0012248|Lengthened PR interval on EKG;HP:0001712|Left ventricular hypertrophy;HP:0001682|Subvalvular aortic stenosis;HP:0004935|Pulmonary atresia;HP:0001636|Tetrology of fallot;HP:0001684|Secundum atrial septal defect;HP:0001629|Ventricular septal defects;HP:0005110|Atrial fibrillation
congenital pancreatic cyst	HP:0003270|Abdominal distention;HP:0002013|Vomiting;HP:0001733|Pancreatitis;HP:0002027|Abdominal pain;HP:0000952|Jaundice;HP:0002039|Anorexia
acalvaria	HP:0000175|Cleft palate;HP:0001883|Talipes;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0002101|Abnormal lung lobation;HP:0002564|Malformation of the heart and great vessels;HP:0001362|Skull defect;HP:0000316|Hypertelorism;HP:0001539|Omphalocele;HP:0001162|Postaxial hand polydactyly;HP:0000929|Abnormality of the skull;HP:0001360|Holoprosencephaly;HP:0000238|Hydrocephalus;HP:0002414|Spina bifida;HP:0002269|Abnormality of neuronal migration
aneurysm of sinus of valsalva	HP:0001635|Congestive heart failure;HP:0001297|Stroke;HP:0002094|Dyspnea;HP:0006689|Bacterial endocarditis;HP:0100520|Oliguria;HP:0100749|Chest pain;HP:0011645|Sinus of Valsalva aneurysm;HP:0001659|Aortic regurgitation;HP:0030148|Heart murmur;HP:0012735|Cough;HP:0000969|Edema
stromal keratitis	HP:0012039|Descemet Membrane Folds;HP:0012155|Decreased corneal sensation;HP:0000618|Blindness;HP:0009926|Increased lacrimation;HP:0012108|Primary open angle glaucoma;HP:0007812|Herpetiform corneal ulceration;HP:0012040|Corneal stromal edema;HP:0100583|Corneal perforation;HP:0000491|Keratitis;HP:0007663|Reduced visual acuity;HP:0007765|Deep anterior chamber
congenital pulmonary airway malformation	HP:0002086|Abnormality of the respiratory system;HP:0001622|Premature birth;HP:0002103|Abnormality of the pleura;HP:0002093|Respiratory insufficiency;HP:0001561|Polyhydramnios
febrile infection-related epilepsy syndrome	HP:0002353|EEG abnormality;HP:0007359|Focal seizures;HP:0000708|Behavioral abnormality;HP:0003326|Myalgia;HP:0001254|Lethargy;HP:0000246|Sinusitis;HP:0002960|Autoimmunity;HP:0001945|Fever;HP:0002376|Developmental regression;HP:0001699|Sudden death;HP:0012735|Cough;HP:0002315|Headache
oculocutaneous albinism type 3	HP:0000639|Nystagmus;HP:0001022|Albinism;HP:0002297|Red hair;HP:0001480|Freckling;HP:0000992|Cutaneous photosensitivity;HP:0005599|Hypopigmentation of hair;HP:0000486|Strabismus;HP:0007730|Iris hypopigmentation;HP:0001010|Hypopigmentation of the skin
lichtenstein syndrome	HP:0002423|Long tract signs;HP:0000954|Simian creases;HP:0001875|Neutropenia;HP:0000286|Palpebronasal fold;HP:0001999|Facial dysmorphism;HP:0000767|Funnel chest;HP:0003320|C1-C2 subluxation;HP:0000670|Dental caries;HP:0001761|Pes cavus;HP:0002659|Increased tendency to fractures;HP:0000463|Nostrils anteverted;HP:0000939|Osteoporosis;HP:0002205|Frequent respiratory infections;HP:0009465|Medially deviated fingers;HP:0006070|Metacarpophalangeal joint contracture;HP:0002714|Downturned corners of mouth;HP:0006297|Hypoplasia of tooth enamel;HP:0000664|Unibrow;HP:0002720|Decreased immunoglobulin A
congenital pulmonary valve stenosis	HP:0002564|Malformation of the heart and great vessels;HP:0001631|Atrial septal defect;HP:0001602|Laryngeal stenosis
trisomy 12p	HP:0001263|Global developmental delay;HP:0000262|Turricephaly;HP:0000470|Short neck;HP:0000520|Proptosis;HP:0002023|Anal atresia;HP:0003196|Short nose;HP:0004322|Short stature;HP:0001176|Large hands;HP:0000474|Thickened nuchal skin fold;HP:0000232|Everted lower lip vermilion;HP:0000079|Abnormality of the urinary system;HP:0000347|Micrognathia;HP:0012368|Flat face;HP:0000369|Low-set ears;HP:0002558|Supernumerary nipple;HP:0002564|Malformation of the heart and great vessels;HP:0008053|Aplasia/Hypoplasia of the iris;HP:0000316|Hypertelorism;HP:0008056|Aplasia/Hypoplasia affecting the eye;HP:0000574|Thick eyebrow;HP:0002714|Downturned corners of mouth;HP:0002916|Abnormality of chromosome segregation;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0009738|Abnormality of the antihelix;HP:0000293|Full cheeks;HP:0000272|Malar flattening;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0001249|Intellectual disability;HP:0002750|Delayed skeletal maturation
frontofacionasal dysplasia	HP:0011800|Midface retrusion;HP:0000456|Bifid nasal tip;HP:0000568|Microphthalmia;HP:0000518|Cataract;HP:0002079|Hypoplasia of the corpus callosum;HP:0000581|Blepharophimosis;HP:0003196|Short nose;HP:0004322|Short stature;HP:0000453|Choanal atresia;HP:0001482|Subcutaneous nodule;HP:0000248|Brachycephaly;HP:0005280|Depressed nasal bridge;HP:0000508|Ptosis;HP:0000337|Broad forehead;HP:0001088|Brushfield spots;HP:0000506|Telecanthus;HP:0007036|Hypoplasia of olfactory tract;HP:0000316|Hypertelorism;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0000384|Preauricular skin tag;HP:0100335|Non-midline cleft lip;HP:0002006|Facial cleft;HP:0000612|Iris coloboma;HP:0007708|Absent inner eyelashes;HP:0000175|Cleft palate;HP:0000457|Depressed nasal ridge;HP:0000636|Upper eyelid coloboma;HP:0001140|Epibulbar dermoid;HP:0004132|Dimple on nasal tip;HP:0002084|Encephalocele;HP:0000482|Microcornea
microspherophakia-metaphyseal dysplasia	HP:0000541|Detached retina;HP:0004322|Stature below 3rd percentile;HP:0002652|Skeletal dysplasia;HP:0001132|Lens subluxation;HP:0000545|Near sightedness;HP:0005752|Flattened moderately deformed vertebrae;HP:0001510|Growth deficiency;HP:0010582|Irregular epiphyses;HP:0100255|Metaphyseal dysplasia;HP:0005733|Spinal stenosis with reduced interpedicular distance;HP:0100719|Lens coloboma
icf syndrome	HP:0001263|Global developmental delay;HP:0004322|Short stature;HP:0005280|Depressed nasal bridge;HP:0002205|Recurrent respiratory infections;HP:0000347|Micrognathia;HP:0012368|Flat face;HP:0005374|Cellular immunodeficiency;HP:0001537|Umbilical hernia;HP:0000369|Low-set ears;HP:0001874|Abnormality of neutrophils;HP:0000316|Hypertelorism;HP:0000158|Macroglossia;HP:0004313|Decreased antibody level in blood;HP:0001888|Lymphopenia;HP:0001334|Communicating hydrocephalus;HP:0003220|Abnormality of chromosome stability;HP:0001903|Anemia;HP:0002024|Malabsorption;HP:0000286|Epicanthus;HP:0000256|Macrocephaly;HP:0001249|Intellectual disability;HP:0002721|Immunodeficiency;HP:0010808|Protruding tongue
trisomy 8q	HP:0006191|Deep palmar crease;HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0000470|Short neck;HP:0010751|Chin dimple;HP:0100818|Long thorax;HP:0000218|High palate;HP:0000232|Everted lower lip vermilion;HP:0008736|Hypoplasia of penis;HP:0001156|Brachydactyly syndrome;HP:0000582|Upslanted palpebral fissure;HP:0000347|Micrognathia;HP:0002564|Malformation of the heart and great vessels;HP:0000316|Hypertelorism;HP:0010297|Bifid tongue;HP:0000190|Abnormality of oral frenula;HP:0100335|Non-midline cleft lip;HP:0002916|Abnormality of chromosome segregation;HP:0000175|Cleft palate;HP:0100627|Displacement of the external urethral meatus;HP:0002475|Myelomeningocele;HP:0000431|Wide nasal bridge;HP:0000202|Oral cleft;HP:0012062|Bone cyst;HP:0000411|Protruding ear;HP:0000348|High forehead;HP:0001387|Joint stiffness;HP:0001328|Specific learning disability;HP:0000368|Low-set, posteriorly rotated ears;HP:0100490|Camptodactyly of finger
yemenite deaf-blind hypopigmentation syndrome	HP:0000639|Nystagmus;HP:0002211|Poliosis of forelock hair;HP:0000567|Chorioretinal coloboma;HP:0007509|Patchy hypo- and hyperpigmentation;HP:0007587|Numerous pigmented freckles;HP:0008625|Severe sensorineural deafness;HP:0000612|Iris coloboma;HP:0000482|Microcornea
congenital laryngomalacia	HP:0001608|Abnormality of the voice;HP:0000175|Cleft palate;HP:0001601|Laryngomalacia;HP:0100335|Non-midline cleft lip
nephropathy, deafness, and hyperparathyroidism	HP:0000083|Renal insufficiency;HP:0000112|Nephropathy;HP:0000843|Hyperparathyroidism;HP:0000407|sensorineural hearing loss;HP:0008208|Parathyroid hyperplasia
eosinophilic granulomatosis with polyangiitis	HP:0001025|Urticaria;HP:0012378|Fatigue;HP:0002015|Dysphagia;HP:0000246|Sinusitis;HP:0006535|Recurrent intrapulmonary hemorrhage;HP:0100584|Endocarditis;HP:0002027|Abdominal pain;HP:0001482|Subcutaneous nodule;HP:0001824|Weight loss;HP:0002960|Autoimmunity;HP:0001697|Abnormality of the pericardium;HP:0002099|Asthma;HP:0000093|Proteinuria;HP:0001970|Tubulointerstitial nephritis;HP:0012649|Increased inflammatory response;HP:0000083|Renal insufficiency;HP:0001635|Congestive heart failure;HP:0002829|Arthralgia;HP:0005214|Intestinal obstruction;HP:0100820|Glomerulopathy;HP:0000965|Cutis marmorata;HP:0003326|Myalgia;HP:0001053|Hypopigmented skin patches;HP:0009830|Peripheral neuropathy;HP:0002113|Pulmonary infiltrates;HP:0000822|Hypertension;HP:0002017|Nausea and vomiting;HP:0001639|Hypertrophic cardiomyopathy;HP:0000979|Purpura;HP:0000790|Hematuria;HP:0002105|Hemoptysis;HP:0004374|Hemiplegia/hemiparesis;HP:0002024|Malabsorption;HP:0002020|Gastroesophageal reflux;HP:0002633|Vasculitis;HP:0001288|Gait disturbance;HP:0001658|Myocardial infarction;HP:0002093|Respiratory insufficiency;HP:0004936|Venous thrombosis;HP:0100582|Nasal polyposis;HP:0007009|Central nervous system degeneration;HP:0001945|Fever;HP:0012819|Myocarditis;HP:0012735|Cough;HP:0002103|Abnormality of the pleura;HP:0100614|Myositis;HP:0000988|Skin rash;HP:0001369|Arthritis;HP:0002326|Transient ischemic attack;HP:0006824|Cranial nerve paralysis;HP:0001063|Acrocyanosis;HP:0200034|Papule;HP:0001880|Eosinophilia
scarf syndrome	HP:0000028|Cryptorchidism;HP:0000486|Squint eyes;HP:0000465|Pterygium colli;HP:0000474|Thickened nuchal skin fold;HP:0000343|Vertical hyperplasia of philtrum;HP:0001540|Diastasis recti;HP:0006297|Hypoplasia of tooth enamel;HP:0000470|Decreased cervical height;HP:0002557|Hypoplastic nipples;HP:0000051|Perineal hypospadias;HP:0000286|Palpebronasal fold;HP:0000973|Dermatomegaly;HP:0000369|Low-set ears;HP:0000426|Protruding bridge of nose;HP:0000879|Short sternum;HP:0000358|Ear, posterior angulation, increased;HP:0001249|Mental retardation;HP:0000048|Bifid scrotum;HP:0003312|Abnormal form of the vertebral bodies;HP:0000054|Short penis;HP:0004443|Lambdoid suture synostosis;HP:0000294|Low frontal hairline;HP:0001537|Umbilical hernias;HP:0004440|Craniosynostosis of coronal suture;HP:0000431|Broad nasal root;HP:0000331|Decreased height of chin;HP:0000023|Inguinal hernia;HP:0006610|Wide intermamillary distance;HP:0008070|Thinned hair;HP:0002162|Low posterior hair line;HP:0001552|Barrel chest;HP:0000494|Downward slanting palpebral fissures;HP:0000508|Drooping upper eyelid;HP:0000768|Pectus carinatum
upington disease	HP:0008812|Flattened femoral head;HP:0002829|Arthralgias;HP:0006429|Broadening of femoral neck;HP:0003365|Coxalgia;HP:0005701|Multiple enchondromatosis
gastrocutaneous syndrome	HP:0004398|Peptic ulcer;HP:0005978|Type II diabetes mellitus;HP:0000582|Upslanted palpebral fissure;HP:0001003|Multiple lentigines;HP:0000545|Near sightedness;HP:0000486|Strabismus;HP:0000545|Myopia;HP:0000316|Hypertelorism;HP:0000664|Synophrys;HP:0000316|Increased distance between eye sockets;HP:0007565|Multiple cafe-au-lait spots;HP:0005280|Depressed nasal bridge;HP:0002036|Hiatus hernia;HP:0001677|Coronary artery disease;HP:0000957|Cafe-au-lait macules;HP:0000995|Melanocytic nevus
hereditary hypophosphatemic rickets with hypercalciuria	HP:0002748|Rickets;HP:0002150|Hypercalciuria;HP:0001324|Muscle weakness;HP:0002653|Bone pain;HP:0004322|Short stature;HP:0002148|Hypophosphatemia;HP:0002749|Osteomalacia
mandibuloacral dysplasia with type b lipodystrophy	HP:0000160|Narrow mouth;HP:0000520|Proptosis;HP:0008404|Nail dystrophy;HP:0000239|Large fontanelles;HP:0003196|Short nose;HP:0004322|Short stature;HP:0007495|Prematurely aged appearance;HP:0000953|Hyperpigmentation of the skin;HP:0009839|Osteolytic defects of the distal phalanges of the hand;HP:0002797|Osteolysis;HP:0000963|Thin skin;HP:0000347|Micrognathia;HP:0009064|Generalized lipodystrophy;HP:0000855|Insulin resistance;HP:0000164|Abnormality of the teeth;HP:0005328|Progeroid facial appearance;HP:0000924|Abnormality of the skeletal system;HP:0003077|Hyperlipidemia;HP:0006710|Aplasia/Hypoplasia of the clavicles;HP:0000823|Delayed puberty;HP:0001595|Abnormality of the hair;HP:0001211|Abnormality of the fingertips;HP:0001596|Alopecia;HP:0004334|Dermal atrophy;HP:0000444|Convex nasal ridge;HP:0003761|Calcinosis;HP:0001870|Acroosteolysis of distal phalanges (feet);HP:0009882|Short distal phalanx of finger
fetal hemoglobin quantitative trait locus 1	HP:0011904|Persistence of hemoglobin F
amyotrophy, monomelic	HP:0002380|Muscle twitch;HP:0007181|Interosseous muscular atrophy;HP:0003445|EMG: neurogenic findings;HP:0003484|Upper limb muscle weakness
omodysplasia	HP:0004991|Rhizomelic arm shortening;HP:0000028|Cryptorchidism;HP:0000047|Hypospadias;HP:0010034|Short 1st metacarpal;HP:0005025|Hypoplastic distal humeri;HP:0005280|Flat, nasal bridge;HP:0005060|Limited elbow flexion/extension;HP:0000456|Bifid tip of nose;HP:0005792|Short upper arms;HP:0002007|Frontal protruberance;HP:0000343|Vertical hyperplasia of philtrum;HP:0000054|Short penis;HP:0003083|Dislocated radius
pseudohypoparathyroidism type 1b	HP:0000639|Nystagmus;HP:0000470|Short neck;HP:0002094|Dyspnea;HP:0000518|Cataract;HP:0011458|Abdominal symptom;HP:0004322|Short stature;HP:0003165|Elevated circulating parathyroid hormone level;HP:0100660|Dyskinesia;HP:0000824|Growth hormone deficiency;HP:0005280|Depressed nasal bridge;HP:0000852|Pseudohypoparathyroidism;HP:0003456|Low urinary cyclic AMP response to PTH administration;HP:0003401|Paresthesia;HP:0012049|Laryngeal dystonia;HP:0005700|Increased bone density with cystic changes;HP:0010766|Ectopic calcification;HP:0000684|Delayed eruption of teeth;HP:0003394|Muscle cramps;HP:0001265|Hyporeflexia;HP:0003909|Cortical subperiosteal resorption of humeral metaphyses;HP:0000739|Anxiety;HP:0003034|Diaphyseal sclerosis;HP:0006297|Hypoplasia of dental enamel;HP:0011001|Increased bone mineral density;HP:0002905|Hyperphosphatemia;HP:0002901|Hypocalcemia;HP:0003472|Hypocalcemic tetany;HP:0000293|Full cheeks;HP:0001657|Prolonged QT interval;HP:0000311|Round face;HP:0030057|Autoimmune antibody positivity;HP:0008227|Pituitary resistance to thyroid hormone;HP:0003761|Calcinosis;HP:0100749|Chest pain;HP:0002199|Hypocalcemic seizures;HP:0000509|Conjunctivitis;HP:0000716|Depression;HP:0000737|Irritability;HP:0003739|Myoclonic spasms
keppen-lubinsky syndrome	HP:0002179|Opisthotonus;HP:0000520|Proptosis;HP:0002094|Dyspnea;HP:0000496|Abnormality of eye movement;HP:0010751|Chin dimple;HP:0009933|Narrow naris;HP:0008734|Decreased testicular size;HP:0002781|Upper airway obstruction;HP:0000218|High palate;HP:0006532|Recurrent pneumonia;HP:0008897|Postnatal growth retardation;HP:0000290|Abnormality of the forehead;HP:0001371|Flexion contracture;HP:0000347|Micrognathia;HP:0005274|Prominent nasal tip;HP:0000292|Loss of facial adipose tissue;HP:0001561|Polyhydramnios;HP:0005328|Progeroid facial appearance;HP:0010804|Tented upper lip vermilion;HP:0011344|Severe global developmental delay;HP:0009125|Lipodystrophy;HP:0000194|Open mouth;HP:0002659|Increased susceptibility to fractures;HP:0001285|Spastic tetraparesis;HP:0009059|Congenital generalized lipodystrophy;HP:0001276|Hypertonia;HP:0001250|Seizures;HP:0100678|Premature skin wrinkling;HP:0000298|Mask-like facies;HP:0002093|Respiratory insufficiency;HP:0000586|Shallow orbits;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0001508|Failure to thrive;HP:0001249|Intellectual disability;HP:0000322|Short philtrum;HP:0002187|Intellectual disability, profound;HP:0001090|Large eyes;HP:0001347|Hyperreflexia;HP:0000212|Gingival overgrowth;HP:0000446|Narrow nasal bridge;HP:0000430|Underdeveloped nasal alae
wells syndrome	HP:0002829|Arthralgia;HP:0002633|Vasculitis;HP:0100658|Cellulitis;HP:0008066|Abnormal blistering of the skin;HP:0000989|Pruritus;HP:0001945|Fever;HP:0200037|Skin vesicle;HP:0001880|Eosinophilia;HP:0000969|Edema
brachydactyly type a3	HP:0004209|Clinodactyly of fifth digit;HP:0005910|Rhomboid or triangular shaped 5th finger middle phalanx;HP:0004220|Hypoplastic middle phalanx of the 5th finger;HP:0010579|Cone-shaped epiphyses
congenital laryngeal web	HP:0010307|Stridor;HP:0004322|Short stature;HP:0001601|Laryngomalacia;HP:0002098|Respiratory distress;HP:0001671|Abnormality of the cardiac septa;HP:0001609|Hoarse voice
congenital tricuspid stenosis	HP:0001635|Congestive heart failure;HP:0005180|Tricuspid regurgitation;HP:0006689|Bacterial endocarditis;HP:0010446|Tricuspid stenosis;HP:0002615|Hypotension;HP:0030148|Heart murmur;HP:0002092|Pulmonary arterial hypertension;HP:0100570|Carcinoid tumor;HP:0001370|Rheumatoid arthritis
atkin-flaitz syndrome	HP:0004322|Short stature;HP:0002054|Heavy brow of the face;HP:0000336|Prominent supraorbital ridges;HP:0000256|Macrocrania;HP:0000316|Increased distance between eye sockets;HP:0001566|Wide gap between upper central incisors;HP:0000232|Everted lower lip vermilion;HP:0000337|Broad forehead;HP:0000455|Broad nasal tip;HP:0004322|Stature below 3rd percentile;HP:0002808|Gibbus deformity;HP:0002711|Deep median tongue furrow;HP:0004279|Hypoplastic hands;HP:0002708|Prominent central ridge on roof of the mouth;HP:0000316|Hypertelorism;HP:0000164|Abnormality of the teeth;HP:0002007|Frontal protruberance;HP:0000179|Plump lower lip;HP:0012471|Thick vermilion border;HP:0002816|Back knee;HP:0001169|Wide palm;HP:0001250|Seizures;HP:0000256|Macrocephaly;HP:0001388|Joint laxity;HP:0002650|Scoliosis;HP:0001182|Tapered finger;HP:0000455|Increased breadth of tip of nose;HP:0002857|Genu valgum;HP:0001249|Intellectual disability;HP:0000053|Macroorchidism;HP:0001513|Obesity;HP:0000463|Anteverted nares;HP:0000098|Increased body height;HP:0000400|Macrotia;HP:0000280|Coarse facial features;HP:0000494|Downward slanting palpebral fissures;HP:0001256|Mild mental retardation;HP:0011220|Prominent forehead;HP:0001593|Maxillary lateral incisor microdontia
ondine syndrome	HP:0001250|Seizures;HP:0003006|Neuroblastoma;HP:0002093|Respiratory insufficiency;HP:0100543|Cognitive impairment;HP:0003005|Ganglioneuroma;HP:0002251|Aganglionic megacolon;HP:0001252|Muscular hypotonia;HP:0002270|Abnormality of the autonomic nervous system;HP:0100006|Neoplasm of the central nervous system;HP:0006747|Ganglioneuroblastoma
macrocephaly/autism syndrome	HP:0000717|Autism;HP:0001513|Obesity;HP:0001263|Developmental retardation;HP:0003196|Short nose;HP:0005280|Flat, nasal bridge;HP:0004422|Biparietal narrowing;HP:0005490|Macrocephaly, postnatal;HP:0002007|Frontal protruberance;HP:0000343|Vertical hyperplasia of philtrum;HP:0000337|Increased bitemporal dimension
pseudodiastrophic dysplasia	HP:0003042|Radiocapitellar dislocation;HP:0000272|Depressed malar region;HP:0008905|Rhizomelic short limbs;HP:0006243|Phalangeal dislocation;HP:0008905|Rhizomelia;HP:0002938|Exaggerated lumbar lordosis;HP:0002564|Malformation of the heart and great vessels;HP:0002650|Scoliosis;HP:0001762|Talipes equinovarus;HP:0005680|Tongue-like lumbar vertebral deformities;HP:0003311|Odontoid hypoplasia;HP:0011800|Midface, flat;HP:0001539|Omphalocele;HP:0003042|Elbow dislocation;HP:0001945|Fever;HP:0003510|Proportionate dwarfism;HP:0000272|Malar flattening;HP:0000926|Platyspondyly;HP:0000926|Flattened vertebral bodies
genito-palato-cardiac syndrome	HP:0000028|Cryptorchidism;HP:0000037|Male pseudohermaphroditism;HP:0008668|Gonadal dysgenesis, male;HP:0000347|Hypoplasia of mandible;HP:0008668|46,xy gonadal dysgenesis;HP:0001629|Ventricular septal defects;HP:0001156|Brachydactyly syndrome;HP:0000047|Hypospadias;HP:0000347|Micrognathia;HP:0000369|Low-set ears;HP:0002564|Malformation of the heart and great vessels;HP:0000107|Renal cyst;HP:0000316|Hypertelorism;HP:0000204|Cleft upper lip;HP:0001162|Postaxial hand polydactyly;HP:0001719|Double-outlet right ventricle;HP:0001511|Intrauterine growth retardation;HP:0000175|Palatoschisis;HP:0002714|Downturned corners of mouth;HP:0100335|Non-midline cleft lip;HP:0000494|Downslanted palpebral fissures;HP:0000175|Cleft palate;HP:0000003|Multicystic kidney dysplasia;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0012020|Right aortic arch;HP:0002808|Kyphosis;HP:0000431|Wide nasal bridge;HP:0005264|Abnormality of the gallbladder;HP:0001669|Transposition of the great arteries;HP:0100016|Abnormality of the mesentery;HP:0000238|Hydrocephalus;HP:0001671|Abnormality of the cardiac septa;HP:0000776|Congenital diaphragmatic hernia
fetal trimethadione syndrome	HP:0001263|Global developmental delay;HP:0011800|Midface retrusion;HP:0011039|Abnormality of the helix;HP:0003196|Short nose;HP:0001629|Ventricular septal defect;HP:0000248|Brachycephaly;HP:0000218|High palate;HP:0005280|Depressed nasal bridge;HP:0001631|Atrial septal defect;HP:0000508|Ptosis;HP:0000047|Hypospadias;HP:0007598|Bilateral single transverse palmar creases;HP:0000347|Micrognathia;HP:0000369|Low-set ears;HP:0000486|Strabismus;HP:0001636|Tetralogy of Fallot;HP:0001511|Intrauterine growth retardation;HP:0000062|Ambiguous genitalia;HP:0000396|Overfolded helix;HP:0000286|Epicanthus;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0000664|Synophrys;HP:0001249|Intellectual disability;HP:0001669|Transposition of the great arteries;HP:0011220|Prominent forehead
ehlers-danlos syndrome, type v	HP:0012233|Intramuscular haematoma;HP:0002297|Red hair;HP:0001388|Joint laxity;HP:0000977|Soft skin;HP:0000974|Stretchable skin;HP:0000993|Molluscoid pseudotumor
hereditary palmoplantar keratoderma	HP:0009775|Amniotic constriction ring;HP:0000982|Palmoplantar keratoderma
pituicytoma	HP:0000044|Hypogonadotrophic hypogonadism;HP:0000802|Impotence;HP:0011043|Abnormality of circulating adrenocorticotropin level;HP:0000863|Central diabetes insipidus;HP:0100829|Galactorrhea;HP:0000141|Amenorrhea;HP:0000870|Prolactin excess;HP:0030018|Decreased female libido;HP:0001123|Visual field defect;HP:0012503|Abnormality of the pituitary gland;HP:0012378|Fatigue;HP:0008230|Decreased testosterone in males;HP:0040075|Hypopituitarism;HP:0002354|Memory impairment;HP:0008214|Decreased serum estradiol;HP:0011754|Pituicytoma;HP:0000824|Growth hormone deficiency;HP:0011752|Neoplasm of the posterior pituitary;HP:0002315|Headache;HP:0008245|Pituitary hypothyroidism
seborrhea-like dermatitis with psoriasiform elements	HP:0001051|Seborrheic dermatitis;HP:0000962|Hyperkeratosis
dent disease 2	HP:0004322|Stature below 3rd percentile;HP:0003126|Tubular proteinuria;HP:0001263|Developmental retardation;HP:0003236|Elevated creatine kinase;HP:0100543|Cognitive deficits;HP:0000121|Nephrocalcinosis;HP:0003355|Aminoaciduria;HP:0001537|Umbilical hernias;HP:0002150|Hypercalcinuria;HP:0012622|Chronic kidney disease;HP:0000114|Proximal tubular defect
noonan syndrome-like disorder with loose anagen hair	HP:0000028|Cryptorchidism;HP:0000670|Carious teeth;HP:0003196|Short nose;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0000238|Hydrocephalus;HP:0000233|Thin vermilion border;HP:0000767|Pectus excavatum;HP:0001156|Brachydactyly syndrome;HP:0000465|Webbed neck;HP:0000316|Hypertelorism;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0001639|Hypertrophic cardiomyopathy;HP:0005108|Abnormality of the intervertebral disk;HP:0001642|Pulmonic stenosis;HP:0000286|Epicanthus;HP:0002209|Sparse scalp hair;HP:0009811|Abnormality of the elbow;HP:0001249|Intellectual disability;HP:0002162|Low posterior hairline;HP:0001800|Hypoplastic toenails;HP:0000179|Thick lower lip vermilion;HP:0002750|Delayed skeletal maturation;HP:0000463|Anteverted nares;HP:0000400|Macrotia;HP:0000368|Low-set, posteriorly rotated ears;HP:0000174|Abnormality of the palate;HP:0001231|Abnormality of the fingernails;HP:0002002|Deep philtrum
carnosinemia	HP:0002353|EEG abnormality;HP:0002123|Myoclonus seizures;HP:0002376|Developmental regression;HP:0003167|Carnosinuria;HP:0002123|Generalized myoclonic seizures;HP:0003167|High urine carnosine levels;HP:0001249|Mental retardation;HP:0001249|Intellectual disability
zebra body myopathy	HP:0001263|Global developmental delay;HP:0010628|Facial palsy;HP:0003327|Axial muscle weakness;HP:0003551|Difficulty climbing stairs;HP:0003715|Myofibrillar myopathy;HP:0003236|Elevated serum creatine phosphokinase;HP:0003391|Gowers sign;HP:0000467|Neck muscle weakness;HP:0012899|Handgrip myotonia;HP:0000473|Torticollis;HP:0003701|Proximal muscle weakness;HP:0003805|Rimmed vacuoles;HP:0003713|Muscle fiber necrosis;HP:0003798|Nemaline bodies;HP:0003555|Muscle fiber splitting;HP:0003458|EMG: myopathic abnormalities;HP:0003736|Autophagic vacuoles;HP:0001319|Neonatal hypotonia;HP:0002515|Waddling gait;HP:0001558|Decreased fetal movement;HP:0002460|Distal muscle weakness;HP:0006785|Limb-girdle muscular dystrophy
carney complex variant	HP:0005684|Distal arthrogryposis;HP:0000211|Trismus;HP:0011672|Cardiac myxoma
gamma-glutamylcysteine synthetase deficiency	HP:0001903|Anemia
albinism-deafness syndrome	HP:0007544|Piebaldism;HP:0007400|Irregular hyperpigmentation;HP:0001053|Hypopigmented skin patches;HP:0002167|Neurological speech impairment;HP:0001100|Heterochromia iridis;HP:0000407|Sensorineural hearing impairment;HP:0007443|Partial albinism
hereditary hyperekplexia	HP:0002359|Frequent falls;HP:0001250|Seizures;HP:0002835|Aspiration;HP:0002104|Absence of spontaneous respiration;HP:0002827|Hip dislocation;HP:0002375|Decreased spontaneous movement;HP:0001537|Umbilical hernias;HP:0002267|Exaggerated startle response;HP:0001336|Myoclonic jerks;HP:0000023|Inguinal hernia;HP:0001276|Hypertonia
flynn-aird syndrome	HP:0000670|Carious teeth;HP:0004334|Atrophic skin;HP:0000670|Dental caries;HP:0000518|Cataract;HP:0000408|Bilateral progressive sensorineural hearing loss;HP:0000545|Myopia;HP:0002376|Developmental regression;HP:0001387|Stiff joints;HP:0001251|Ataxia;HP:0005700|Increased bone density with cystic changes;HP:0009830|Peripheral neuropathy;HP:0200042|Skin ulcer;HP:0002120|Cerebral cortical atrophy;HP:0002293|Scalp hair loss;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0000962|Hyperkeratosis;HP:0005978|Type II diabetes mellitus;HP:0002751|Kyphoscoliosis;HP:0000545|Near sightedness;HP:0002650|Scoliosis;HP:0100022|Abnormality of movement;HP:0000510|Rod-cone dystrophy;HP:0000939|Osteoporosis;HP:0000726|Dementia;HP:0002514|Cerebral calcification;HP:0002808|Kyphosis;HP:0000408|Progressive sensorineural hearing impairment;HP:0000820|Abnormality of the thyroid gland;HP:0001596|Hair loss;HP:0012062|Bone cyst;HP:0004326|Cachexia;HP:0001596|Alopecia;HP:0000505|Visual impairment;HP:0004334|Dermal atrophy;HP:0001387|Joint stiffness;HP:0000510|Retinitis pigmentosa;HP:0002922|Increased CSF protein;HP:0008207|Primary adrenal insufficiency;HP:0007328|Impaired pain sensation;HP:0002381|Aphasia;HP:0003202|Skeletal muscle atrophy;HP:0002621|Atherosclerosis
chiari malformation type ii	HP:0002282|Heterotopias;HP:0001252|Hypotonia;HP:0000639|Nystagmus;HP:0002318|Cervical myelopathy;HP:0002179|Opisthotonus;HP:0000961|Cyanosis;HP:0002483|Bulbar signs;HP:0001251|Ataxia;HP:0000238|Nonsyndromal hydrocephalus;HP:0005348|Inspiratory stridor;HP:0003690|Limb weakness;HP:0002308|Chiari malformation;HP:0001274|Absent corpus callosum;HP:0002015|Swallowing difficulty;HP:0012318|Occipital neuralgia;HP:0002414|Spina bifida;HP:0011968|Feeding difficulties
catshl syndrome	HP:0000767|Funnel chest;HP:0000252|Small head circumference;HP:0001263|Developmental retardation;HP:0009473|Joint contracture of the hand;HP:0001836|Camptodactyly of toe;HP:0000218|Increased palatal height;HP:0000098|Increased body height;HP:0002650|Scoliosis;HP:0001166|Long, slender fingers;HP:0000407|sensorineural hearing loss;HP:0030431|Osteochondromas;HP:0004570|Increased vertebral height;HP:0001249|Mental retardation;HP:0006417|Broad wide portion of thigh bone
osteoarthritis with mild chondrodysplasia	HP:0001387|Stiff joints;HP:0004322|Stature below 3rd percentile;HP:0005086|Knee osteoarthritis;HP:0012313|Heberden's node;HP:0004568|Wedged vertebrae;HP:0003301|vertebral endplate irregularity;HP:0008843|Hip osteoarthritis;HP:0030041|Schmorl's node;HP:0000926|Flattened vertebral bodies
cleft palate-lateral synechia syndrome	HP:0000160|Narrow mouth;HP:0000232|Everted lower lip vermilion;HP:0000175|Cleft palate;HP:0000347|Micrognathia;HP:0000581|Blepharophimosis;HP:0000293|Full cheeks;HP:0001608|Abnormality of the voice;HP:0010285|Oral synechia;HP:0000175|Palatoschisis
cholesterol pneumonia	HP:0012735|Coughing;HP:0000961|Cyanosis;HP:0002789|Increased respiratory rate or depth of breathing;HP:0002090|Pneumonia
spinocerebellar ataxia 12	HP:0002346|Head tremor;HP:0001310|Dysmetria;HP:0000496|Ocular movement abnormalities;HP:0002530|Axial dystonia;HP:0002073|Cerebellar ataxia, progressive;HP:0001347|Hyperreflexia;HP:0002075|Dysdiadochokinesis;HP:0000746|Delusions;HP:0001272|Cerebellar atrophy;HP:0000716|Depression;HP:0000317|Involuntary facial contraction;HP:0000726|Dementia;HP:0001300|Parkinsonism;HP:0007141|Mixed polyneuropathy;HP:0002120|Cerebral cortical atrophy;HP:0001260|Dysarthric speech;HP:0000739|Anxiety;HP:0002345|Action tremor
mental retardation syndrome, mietens-weber type	HP:0000639|Nystagmus;HP:0002987|Elbow contracture;HP:0000486|Squint eyes;HP:0009821|Hypoplasia involving forearm bones;HP:0008850|Marked growth retardation;HP:0005093|Absent proximal radial epiphyses;HP:0001763|Pes planus;HP:0001256|Mild mental retardation;HP:0000460|Decreased nasal breadth;HP:0003083|Dislocated radius;HP:0001249|Mental retardation
trichodental dysplasia	HP:0002213|Thin hair shaft;HP:0008070|Thinned hair;HP:0000252|Small head circumference;HP:0000694|Shell teeth;HP:0002299|Brittle hair;HP:0000698|Peg tooth;HP:0002217|Slow growing hair;HP:0000668|Failure of development of between one and six teeth
axial osteomalacia	HP:0003198|Myopathic changes;HP:0003701|Proximal limb muscle weakness;HP:0006557|Polycystic liver disease;HP:0011001|Increased bone mineral density;HP:0003236|Elevated creatine kinase;HP:0000107|Renal cyst;HP:0002749|Osteomalacia
spinocerebellar ataxia 14	HP:0000639|Nystagmus;HP:0002015|Swallowing difficulty;HP:0001310|Dysmetria;HP:0002073|Cerebellar ataxia, progressive;HP:0006938|Decreased vibration sense at ankles;HP:0001347|Hyperreflexia;HP:0007018|Attention deficits;HP:0001268|Mental deterioration;HP:0001272|Cerebellar atrophy;HP:0000716|Depression;HP:0000317|Involuntary facial contraction;HP:0002066|Gait ataxia;HP:0001260|Dysarthric speech;HP:0002354|Memory loss;HP:0004373|Focal dystonia
collagenoma, familial cutaneous	HP:0001635|Congestive heart failure;HP:0002633|Vasculitis;HP:0008720|Primary testicular failure;HP:0005180|Tricuspid insufficiency;HP:0007534|Congenital posterior occipital alopecia;HP:0000407|sensorineural hearing loss;HP:0011663|Cardiomyopathy, right ventricular;HP:0005110|Atrial fibrillation;HP:0001089|Iris atrophy
greenberg dysplasia	HP:0011800|Midface retrusion;HP:0003312|Abnormal form of the vertebral bodies;HP:0000347|Micrognathia;HP:0009106|Abnormal pelvis bone ossification;HP:0011849|Abnormal bone ossification;HP:0008905|Rhizomelia;HP:0001362|Skull defect;HP:0100602|Preeclampsia;HP:0008890|Severe short-limb dwarfism;HP:0006619|Anterior rib punctate calcifications;HP:0000774|Narrow chest;HP:0004331|Decreased skull ossification;HP:0000926|Platyspondyly;HP:0100569|Abnormal vertebral ossification;HP:0001004|Lymphedema;HP:0002983|Micromelia;HP:0001881|Abnormality of leukocytes;HP:0001156|Brachydactyly syndrome
orofaciodigital syndrome iii	HP:0001795|Hyperconvex nail;HP:0000767|Funnel chest;HP:0011069|Extra teeth;HP:0001830|Posterior polydactyly of foot;HP:0001249|Mental retardation;HP:0000691|Decreased width of tooth;HP:0002808|Gibbus deformity;HP:0000369|Low-set ears;HP:0000199|Lingual nodules;HP:0000879|Short sternum;HP:0000193|Uvula bifida;HP:0000316|Increased distance between eye sockets;HP:0000414|Bulbous nose;HP:0001336|Myoclonic jerks;HP:0001162|Postaxial polydactyly of fingers
paragangliomas 4	HP:0000975|Increased sweating;HP:0030074|Chemodectoma;HP:0001962|Palpitations;HP:0002640|Hypertension associated with pheochromocytoma;HP:0003006|Neuroblastoma;HP:0008629|Pulsatile tinnitus;HP:0006737|Pheochromocytoma, extraadrenal;HP:0003001|Glomus jugulare tumor;HP:0005584|Renal cell carcinoma;HP:0002331|Recurrent paroxysmal headache;HP:0006748|Adrenal pheochromocytoma;HP:0001649|Tachycardia;HP:0000740|Episodic paroxysmal anxiety;HP:0100723|Gastrointestinal stroma tumor
nephronophthisis 4	HP:0003774|End-stage renal failure;HP:0000092|Tubular atrophy;HP:0000103|Polyuria;HP:0000090|juvenile nephronophthisis;HP:0005576|Renal interstitial fibrosis;HP:0001510|Growth deficiency;HP:0001959|Polydipsia;HP:0001903|Anemia;HP:0000108|Renal corticomedullary cystic disease
dyschromatosis universalis hereditaria	HP:0007441|Hyperpigmented/hypopigmented macules
huntington disease-like 1	HP:0001310|Dysmetria;HP:0002063|Muscle rigidity;HP:0006999|Basal ganglia gliosis;HP:0000746|Delusions;HP:0000716|Depression;HP:0000726|Dementia;HP:0002317|Unsteady walk;HP:0001260|Dysarthric speech;HP:0002311|Incoordination;HP:0002283|Global brain atrophy;HP:0002072|Chorea;HP:0000739|Anxiety;HP:0000711|Restlessness;HP:0000751|Personality changes;HP:0000718|Aggressive behaviour
generalized epilepsy and paroxysmal dyskinesia	HP:0002069|Generalized tonic clonic seizures;HP:0010849|EEG with spike-wave complexes (>3.5 Hz);HP:0007166|Paroxysmal dyskinesia;HP:0002121|Petit mal seizures
abcd syndrome	HP:0001520|Birthweight > 90th percentile;HP:0007894|Retinal depigmentation;HP:0006958|Abnormal brainstem auditory-evoked potentials;HP:0000365|Hearing impairment;HP:0001022|Achromasia;HP:0002251|Hirschsprung megacolon
alpha-2-plasmin inhibitor deficiency	HP:0005261|Joint hemorrhage;HP:0012151|Hemothorax;HP:0001934|Excessive bleeding after minor trauma;HP:0000978|Bruisability
adermatoglyphia	HP:0007455|Adermatoglyphia;HP:0001217|Digital clubbing;HP:0010765|Palmar hyperkeratosis
specific granule deficiency	HP:0002719|infections, recurrent;HP:0012551|Absent neutrophil specific granules;HP:0011447|Hyposegmentation of neutrophil nuclei
acrocephalopolysyndactyly type iii	HP:0001159|Webbed fingers or toes;HP:0001177|Preaxial hand polydactyly;HP:0000263|Oxycephaly;HP:0000303|Increased size of lower jaw;HP:0000272|Depressed malar region;HP:0000327|Maxillary micrognathia;HP:0000369|Low-set ears;HP:0000377|Malformation of auricle;HP:0009816|Hypoplasia involving bones of the lower limbs;HP:0000586|Shallow orbits;HP:0000316|Increased distance between eye sockets;HP:0001363|Early fusion of cranial sutures;HP:0010055|Abnormally broad great toes;HP:0000678|Dental crowding;HP:0011304|Wide/broad thumb;HP:0000274|Hypoplasia of face;HP:0000470|Decreased cervical height
liebenberg syndrome	HP:0002987|Elbow contracture;HP:0001233|Syndactyly 2nd-3rd fingers;HP:0003016|Wide metaphyses;HP:0009183|Fifth finger camptodactyly;HP:0001191|Carpal bone anomalies;HP:0006190|Radially deviated wrists;HP:0001156|Brachydactyly
thyroid dyshormonogenesis 3	HP:0008223|Compensated hypothyroidism;HP:0002890|Thyroid carcinoma;HP:0012559|Increased T3/T4 ratio;HP:0001249|Mental retardation;HP:0000853|Goitre
fanconi like syndrome	HP:0001876|Low blood cell count;HP:0007606|Multiple cutaneous malignancies;HP:0002783|Chronic lung infections;HP:0005939|Multiple bilateral pneumothoraces;HP:0002754|Bone infection
pulmonary edema of mountaineers	HP:0100598|Pulmonary oedema;HP:0004890|Elevated pulmonary artery pressure
aniridia cerebellar ataxia mental deficiency	HP:0000526|Absent iris;HP:0001249|Mental retardation;HP:0001251|Ataxia;HP:0001321|Small cerebellum
glycogen storage disease x	HP:0003198|Myopathic changes;HP:0003710|Muscle cramps following exercise;HP:0003738|Muscle pain on exercise;HP:0003236|Elevated creatine kinase;HP:0003201|Rhabdomyolysis;HP:0002913|Myoglobinuria;HP:0003546|Exercise intolerance;HP:0000083|Renal insufficiency
weissenbacher-zweymuller syndrome	HP:0000520|Anterior bulging of the globe of eye;HP:0002644|Abnormal shape of pelvic girdle bone;HP:0008905|Rhizomelic short limbs;HP:0001263|Developmental retardation;HP:0000947|Dumbbell-shaped long bone;HP:0003417|Coronal vertebral clefts;HP:0000347|Hypoplasia of mandible;HP:0005280|Flat, nasal bridge;HP:0000407|sensorineural hearing loss;HP:0000316|Increased distance between eye sockets;HP:0000175|Palatoschisis;HP:0000201|Pierre-robin deformity;HP:0010580|Large epiphyses
ectodermal dysplasia 3, witkop type	HP:0008070|Thinned hair;HP:0002213|Thin hair shaft;HP:0001807|Grooved nails;HP:0006349|Agenesis of permanent dentition;HP:0001792|Hypoplastic nails;HP:0001598|Koilonychia;HP:0001803|Pitted nails;HP:0006347|Microdontia of primary teeth
cafe-au-lait spots, multiple	HP:0007565|Multiple cafe-au-lait spots
palmoplantar keratoderma, nagashima type	HP:0000982|Palmoplantar keratoderma;HP:0000975|Hyperhidrosis
spondyloepimetaphyseal dysplasia, aggrecan type	HP:0002938|Lumbar hyperlordosis;HP:0011800|Midface retrusion;HP:0005285|Missing bridge of nose;HP:0000470|Short neck;HP:0008905|Rhizomelic short limbs;HP:0005285|Absent nasal bridge;HP:0000358|Posteriorly rotated ears;HP:0000470|Decreased cervical height;HP:0001156|Brachydactyly syndrome;HP:0001552|Barrel-shaped chest;HP:0000303|Mandibular prognathia;HP:0002938|Exaggerated lumbar lordosis;HP:0000369|Low-set ears;HP:0004482|Macrocephaly, relative;HP:0000358|Ear, posterior angulation, increased;HP:0001609|Hoarse voice;HP:0001388|Joint laxity;HP:0009381|Hypoplastic fingers;HP:0001609|Hoarseness;HP:0003027|Mesomelia;HP:0004482|Relative macrocephaly;HP:0011304|Wide/broad thumb;HP:0002795|Functional respiratory abnormality;HP:0001597|Abnormality of the nail;HP:0000303|Increased size of lower jaw;HP:0000272|Depressed malar region;HP:0002651|Spondyloepimetaphyseal dysplasia;HP:0001552|Barrel chest;HP:0011304|Broad thumb;HP:0000368|Low-set, posteriorly rotated ears;HP:0008905|Rhizomelia
chorioretinal atrophy, progressive bifocal	HP:0000639|Nystagmus;HP:0000541|Detached retina;HP:0000505|Poor vision;HP:0000533|Chorioretinal atrophy;HP:0000545|Near sightedness;HP:0001135|Chorioretinal dystrophy
spondylometaphyseal dysplasia, algerian type	HP:0002657|Spondylometaphyseal dysplasia;HP:0002812|Coxa vara;HP:0000907|Anteriorly splayed ribs;HP:0002751|Kyphoscoliosis;HP:0002834|Flared metaphysis of thigh bone;HP:0000926|Flattened vertebral bodies;HP:0003185|Small sacroiliac notch;HP:0002938|Exaggerated lumbar lordosis;HP:0000545|Near sightedness;HP:0008839|Hypoplastic pelvic bones;HP:0003865|Humeral bowing;HP:0003510|Proportionate dwarfism;HP:0001248|Short tubular bones of the hand;HP:0002857|Genu valgum;HP:0100255|Metaphyseal dysplasia;HP:0006434|Hypoplasia of proximal radius;HP:0001498|Hypoplastic carpal bones;HP:0030292|Tibial metaphyseal irregularity
mesomelic dysplasia, kantaputra type	HP:0002986|Bowed radii;HP:0005009|Dumbbell-shaped humerus;HP:0001883|Talipes;HP:0003422|Vertebral segmentation defect;HP:0003063|Abnormality of the humerus;HP:0005048|Synostosis of carpal bones;HP:0009702|Fused carpal bones;HP:0008368|Tarsal fusions;HP:0002967|Cubitus valgus;HP:0004322|Short stature;HP:0002991|Abnormality of the fibula;HP:0008368|Tarsal synostosis;HP:0100490|Camptodactyly of finger;HP:0003027|Mesomelia;HP:0009465|Ulnar deviation of finger;HP:0000772|Abnormality of the ribs;HP:0004209|Clinodactyly of the 5th finger;HP:0003028|Abnormality of the ankles
immunoneurologic disorder, x-linked	HP:0001348|Brisk reflexes;HP:0009073|Progressive proximal muscle weakness;HP:0001518|Small for gestational age;HP:0006830|Severe floppy baby syndrome in males;HP:0000662|Poor night vision;HP:0001258|Spastic paraplegia, lower limb;HP:0008348|Immunoglobulin IgG2 deficiency;HP:0000009|Functional abnormality of the bladder
arthrogryposis multiplex congenita, neurogenic type	HP:0002803|Congenital joint contractures;HP:0002804|Arthrogryposis multiplex congenita;HP:0003198|Myopathic changes;HP:0030680|Abnormality of cardiovascular system morphology
dermoids of cornea	HP:0000478|Abnormal eye;HP:0007957|Corneal clouding
sponastrime dysplasia	HP:0002938|Lumbar hyperlordosis;HP:0000518|Cataract;HP:0003196|Short nose;HP:0004322|Short stature;HP:0005930|Abnormality of epiphysis morphology;HP:0005280|Depressed nasal bridge;HP:0002007|Frontal bossing;HP:0005692|Joint hyperflexibility;HP:0004313|Decreased antibody level in blood;HP:0012471|Thick vermilion border;HP:0001288|Gait disturbance;HP:0001163|Abnormality of the metacarpal bones;HP:0002650|Scoliosis;HP:0000939|Osteoporosis;HP:0002808|Kyphosis;HP:0003027|Mesomelia;HP:0004493|Craniofacial hyperostosis;HP:0000272|Malar flattening;HP:0000926|Platyspondyly;HP:0001385|Hip dysplasia;HP:0002651|Spondyloepimetaphyseal dysplasia;HP:0002750|Delayed skeletal maturation;HP:0000463|Anteverted nares;HP:0001252|Muscular hypotonia;HP:0000944|Abnormality of the metaphyses;HP:0008905|Rhizomelia
macular dystrophy, retinal, 1, north carolina type	HP:0011510|Drusen;HP:0002909|Generalized nonspecific aminoaciduria;HP:0007754|Macular dystrophy;HP:0008002|Abnormality of macular pigmentation
multicentric osteolysis, nodulosis, and arthropathy	HP:0008011|Peripheral opacification of the cornea;HP:0000938|Decreased bone mineral density;HP:0001072|Pachydermia;HP:0008133|Distal tapering of metatarsals;HP:0001473|Osteolysis involving metatarsal bones;HP:0000598|Ear anomaly;HP:0001495|Carpal osteolysis;HP:0006086|Thin metacarpal cortices;HP:0000347|Hypoplasia of mandible;HP:0001482|Subcutaneous nodule;HP:0000248|Brachycephaly;HP:0001504|Metacarpals osteolysis;HP:0000316|Increased distance between eye sockets;HP:0006012|Broad shaft of long bone of hand;HP:0001034|Hyperpigmented spots;HP:0005441|Sclerotic cranial sutures;HP:0004322|Stature below 3rd percentile;HP:0006466|Ankle contracture;HP:0001239|Wrist flexion deformity;HP:0002953|Vertebral compression fractures;HP:0000684|Delayed eruption of teeth;HP:0006234|Osteolysis involving tarsal bones;HP:0002007|Frontal protruberance;HP:0003179|Protrusio acetabulae;HP:0003016|Wide metaphyses;HP:0002751|Kyphoscoliosis;HP:0001288|Gait disturbance;HP:0001476|Late closure of the bregma sutures;HP:0001171|Hand ectrodactyly;HP:0000327|Maxillary micrognathia;HP:0001836|Camptodactyly of toe;HP:0000446|Narrow nasal root;HP:0001220|Interphalangeal joint flexion contractures;HP:0000939|Osteoporosis;HP:0008090|Ankylosis of feet small joints;HP:0008078|Thin metatarsal cortices;HP:0001761|Pes cavus;HP:0001783|Broad metatarsal;HP:0000520|Anterior bulging of the globe of eye;HP:0006252|Interphalangeal joint erosions;HP:0003273|Flexion contracture of hips;HP:0001007|Hirsutism;HP:0003493|Elevated antinuclear antibody;HP:0000765|Abnormality of the thorax;HP:0001763|Pes planus;HP:0000280|Coarse facial features;HP:0000212|Gingival overgrowth;HP:0000414|Bulbous nose;HP:0003320|C1-C2 subluxation;HP:0002829|Arthralgias
osteogenesis imperfecta, type ii	HP:0001635|Congestive heart failure;HP:0000963|Thin skin;HP:0002644|Abnormal shape of pelvic girdle bone;HP:0002982|Bowed tibia;HP:0008873|Dwarfism, short-limbed;HP:0000239|Persistent wide fontanel;HP:0002645|Extra bones within cranial sutures;HP:0000923|Beaded ribs;HP:0006367|Crumpled long bones;HP:0001518|Small for gestational age;HP:0010444|Puolmonary valve insufficiency;HP:0001790|Nonimmune hydrops fetalis;HP:0000444|Polly beak nasal deformity;HP:0002757|Multiple fractures;HP:0005622|Widened long bones;HP:0001622|Premature delivery;HP:0005623|Absent ossification of calvaria;HP:0000592|Bluish sclerae;HP:0005855|Congenital bone fractures;HP:0000926|Flattened vertebral bodies;HP:0002093|progressive respiratory failure
osteogenesis imperfecta, type i	HP:0000362|Otosclerosis;HP:0000938|Decreased bone mineral density;HP:0000963|Thin skin;HP:0001507|Abnormal growth;HP:0001634|Mitral valve prolapse;HP:0001382|Hyperextensible joints;HP:0002645|Extra bones within cranial sutures;HP:0002980|Bowed femura;HP:0002659|Increased tendency to fractures;HP:0003321|Biconcave flattened vertebrae;HP:0000365|Hearing impairment;HP:0002757|Multiple fractures;HP:0000592|Bluish sclerae;HP:0000703|Dentinogenesis imperfecta;HP:0000978|Bruisability;HP:0001724|Aortic dilatation
bustos simosa pinto cisternas syndrome	HP:0000653|Hypotrichosis of eyelashes;HP:0000968|Ectodermal dysplasia;HP:0010554|Cutaneous syndactyly of hands;HP:0000272|Depressed malar region;HP:0002296|Progressive hypotrichosis;HP:0000691|Decreased width of tooth;HP:0010719|Abnormality of hair texture;HP:0000674|Anodontia;HP:0000972|Thick palms and soles;HP:0000598|Ear anomaly;HP:0000325|Triangular face;HP:0000204|Cleft upper lip;HP:0000535|Thin, sparse eyebrows;HP:0002164|Nail dysplasia;HP:0010621|soft tissue syndactyly of toes;HP:0000175|Palatoschisis;HP:0000288|Abnormality of the infranasal depression;HP:0000668|Failure of development of between one and six teeth
wt limb-blood syndrome	HP:0000028|Cryptorchidism;HP:0009803|Hypoplastic/small phalanges of the hand;HP:0009183|Fifth finger camptodactyly;HP:0004209|Clinodactyly of fifth digit;HP:0001876|Low blood cell count;HP:0009777|Absent thumbs;HP:0001908|Hypoplastic anemia;HP:0007400|Irregular hyperpigmentation;HP:0009463|Ulnar deviation of the 3rd finger;HP:0001909|Leukemia;HP:0000347|Hypoplasia of mandible;HP:0002974|Fused forearm bones;HP:0000407|sensorineural hearing loss;HP:0000278|Receding lower jaw;HP:0009778|Small thumbs;HP:0001873|Low platelet count;HP:0006156|Ulnar deviation of thumb
parana hard-skin syndrome	HP:0000962|Hyperkeratosis;HP:0001438|Abnormality of the abdomen;HP:0002093|Respiratory insufficiency;HP:0006596|Restricted chest movement;HP:0008850|Marked growth retardation;HP:0004322|Short stature;HP:0000951|dermatopathy;HP:0001182|Tapered finger;HP:0007440|Generalized hyperpigmentation;HP:0001072|Thickened skin;HP:0001510|Growth delay;HP:0002230|Generalized hirsutism;HP:0000768|Pectus carinatum;HP:0000311|Round face;HP:0002093|progressive respiratory failure;HP:0006610|Wide intermamillary distance
calvarial hyperostosis	HP:0001939|Laboratory abnormality;HP:0004490|Hyperostosis of calvarial bones
brachymorphism-onychodysplasia-dysphalangism syndrome	HP:0001802|Absent toenail;HP:0001633|Abnormality of the mitral valve;HP:0000445|Broad nose;HP:0000307|Pointed chin;HP:0004322|Short stature;HP:0000248|Brachycephaly;HP:0002164|Nail dysplasia;HP:0001631|Atrial septal defect;HP:0001156|Brachydactyly syndrome;HP:0004322|Stature below 3rd percentile;HP:0008398|Hypoplastic fifth fingernail;HP:0000154|Wide mouth;HP:0002007|Frontal bossing;HP:0009890|High anterior hairline;HP:0001537|Umbilical hernia;HP:0001857|Short distal phalanx of toe;HP:0001798|Anonychia;HP:0000486|Strabismus;HP:0000343|Long philtrum;HP:0010959|Cystic adenomatoid lung disease;HP:0000574|Thick eyebrow;HP:0001511|Intrauterine growth retardation;HP:0001817|Absent fingernail;HP:0004227|Fifth digit distal phalangeal hypoplasia;HP:0001256|Intellectual disability, mild;HP:0000286|Epicanthus;HP:0001999|Facial dysmorphism;HP:0000252|Small head circumference;HP:0000307|Small pointed chin;HP:0100797|Toenail dysplasia;HP:0000252|Microcephaly;HP:0000154|Large mouth;HP:0002230|Generalized hirsutism;HP:0000272|Malar flattening;HP:0000448|Prominent nose;HP:0000431|Wide nasal bridge;HP:0004209|Clinodactyly of the 5th finger;HP:0000023|Inguinal hernia;HP:0100798|Fingernail dysplasia;HP:0004220|Hypoplastic middle phalanx of the 5th finger;HP:0001800|Hypoplastic toenails;HP:0000348|High forehead;HP:0002750|Delayed skeletal maturation;HP:0009773|Symphalangism affecting the phalanges of the hand;HP:0004422|Biparietal narrowing;HP:0000325|Triangular face;HP:0002086|Abnormality of the respiratory system;HP:0000280|Coarse facial features;HP:0001804|Hypoplastic fingernail
odontoma-dysphagia syndrome	HP:0002015|Swallowing difficulty;HP:0002031|Anomaly of the esophagus;HP:0011068|Odontoma
pagod syndrome	HP:0002089|Pulmonary hypoplasia;HP:0004322|Short stature;HP:0100555|Asymmetric growth;HP:0001696|Situs inversus totalis;HP:0004414|Abnormality of the pulmonary artery;HP:0002269|Abnormality of neuronal migration;HP:0008678|Renal hypoplasia/aplasia;HP:0000035|Abnormality of the testis;HP:0000130|Abnormality of the uterus;HP:0002564|Malformation of the heart and great vessels;HP:0001522|Death in infancy;HP:0002435|Meningocele;HP:0000772|Abnormality of the ribs;HP:0000062|Ambiguous genitalia;HP:0000008|Abnormality of female internal genitalia;HP:0002414|Spina bifida;HP:0000889|Abnormality of the clavicle;HP:0000003|Multicystic kidney dysplasia;HP:0011675|Arrhythmia;HP:0000252|Microcephaly;HP:0001539|Omphalocele;HP:0000648|Optic atrophy;HP:0004383|Hypoplastic left heart;HP:0001679|Abnormality of the aorta;HP:0010458|Female pseudohermaphroditism;HP:0001645|Sudden cardiac death;HP:0008633|Absent gonadal tissue;HP:0002084|Encephalocele;HP:0004971|Pulmonary artery hypoplasia;HP:0001743|Abnormality of the spleen;HP:0000776|Congenital diaphragmatic hernia
pyknoachondrogenesis	HP:0011001|Increased bone mineral density
blepharonasofacial malformation syndrome	HP:0000028|Cryptorchidism;HP:0000298|Lack of facial expression;HP:0000581|Blepharophimosis;HP:0000365|Hearing impairment;HP:0001304|Torsion dystonia;HP:0005338|Sparse lateral eyebrow;HP:0000445|Wide nose;HP:0006101|Finger syndactyly;HP:0001304|Dystonia musculorum deformans;HP:0000506|Telecanthus;HP:0005692|Joint hyperflexibility;HP:0000343|Long philtrum;HP:0100335|Non-midline cleft lip;HP:0001249|Mental retardation;HP:0000632|Lacrimation abnormality;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0000298|Mask-like facies;HP:0001608|Abnormality of the voice;HP:0000648|Optic atrophy;HP:0000431|Wide nasal bridge;HP:0000023|Inguinal hernia;HP:0001249|Intellectual disability;HP:0002162|Low posterior hairline;HP:0001582|Redundant skin;HP:0001347|Hyperreflexia;HP:0000499|Abnormality of the eyelashes;HP:0001072|Thickened skin;HP:0008572|External ear malformation;HP:0009804|Reduced number of teeth;HP:0010628|Facial palsy, unilateral or bilateral;HP:0000430|Underdeveloped nasal alae
hypomandibular faciocranial dysostosis	HP:0000160|Narrow mouth;HP:0000520|Proptosis;HP:0011800|Midface retrusion;HP:0000588|Optic nerve coloboma;HP:0002777|Tracheal stenosis;HP:0003196|Short nose;HP:0100543|Cognitive impairment;HP:0000347|Hypoplasia of mandible;HP:0000205|Tightly closed lips;HP:0000452|Choanal stenosis;HP:0000248|Brachycephaly;HP:0000243|Trigonocephaly;HP:0001631|Atrial septal defect;HP:0010295|Aplasia/Hypoplasia of the tongue;HP:0002205|Recurrent respiratory infections;HP:0000582|Upslanted palpebral fissure;HP:0000369|Low-set ears;HP:0000193|Bifid uvula;HP:0005607|Abnormality of the tracheobronchial system;HP:0001643|Patent ductus arteriosus;HP:0001522|Death in infancy;HP:0000008|Abnormality of female internal genitalia;HP:0000494|Downslanted palpebral fissures;HP:0000175|Cleft palate;HP:0000588|Optic disk coloboma;HP:0000327|Maxillary micrognathia;HP:0001643|Persistent ductus arteriosus;HP:0004440|Craniosynostosis of coronal suture;HP:0005439|Maxillozygomatic hypoplasia;HP:0000272|Depressed malar region;HP:0001363|Craniosynostosis;HP:0008749|Laryngeal hypoplasia;HP:0012730|Aglossia;HP:0000463|Anteverted nares;HP:0000452|Coanal stenosis;HP:0001631|Atria septal defect;HP:0001561|Polyhydramnios
lowry-maclean syndrome	HP:0001627|Congenital heart defects;HP:0000252|Small head circumference;HP:0001263|Developmental retardation;HP:0004467|Pit in front of the ear;HP:0000684|Delayed eruption of teeth;HP:0001363|Early fusion of cranial sutures;HP:0000444|Polly beak nasal deformity;HP:0009110|Diaphragmatic eventration;HP:0000501|Glaucoma;HP:0000175|Palatoschisis;HP:0001511|Prenatal onset growth retardation;HP:0001249|Mental retardation
mcdonough syndrome	HP:0000028|Cryptorchidism;HP:0001650|Valvular aortic stenosis;HP:0000767|Funnel chest;HP:0000486|Squint eyes;HP:0000689|Misalignment of upper and lower dental arches;HP:0004322|Short stature;HP:0000347|Hypoplasia of mandible;HP:0000336|Prominent supraorbital ridges;HP:0012745|Short palpebral fissure;HP:0009466|Radially deviated phalanges;HP:0000316|Increased distance between eye sockets;HP:0001540|Diastasis recti;HP:0001629|Ventricular septal defects;HP:0000767|Pectus excavatum;HP:0000508|Ptosis;HP:0000954|Simian creases;HP:0004322|Stature below 3rd percentile;HP:0000347|Micrognathia;HP:0007598|Bilateral single transverse palmar creases;HP:0000303|Mandibular prognathia;HP:0000664|Unibrow;HP:0002564|Malformation of the heart and great vessels;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0010318|Aplasia/Hypoplasia of the abdominal wall musculature;HP:0030084|Clinodactyly;HP:0001642|Pulmonic stenosis;HP:0001249|Mental retardation;HP:0001999|Facial dysmorphism;HP:0002751|Kyphoscoliosis;HP:0002650|Scoliosis;HP:0001800|Underdeveloped toenails;HP:0000582|Upward slanting of palpebral fissures;HP:0000664|Synophrys;HP:0002808|Kyphosis;HP:0000448|Prominent nose;HP:0001249|Intellectual disability;HP:0000322|Short philtrum;HP:0008070|Thinned hair;HP:0000303|Increased size of lower jaw;HP:0000448|Big nose;HP:0000411|Protruding ear;HP:0004326|Cachexia;HP:0010807|Open bite;HP:0000400|Macrotia;HP:0000368|Low-set, posteriorly rotated ears;HP:0000174|Abnormality of the palate;HP:0000508|Drooping upper eyelid;HP:0000768|Pectus carinatum;HP:0000689|Dental malocclusion;HP:0001631|Atria septal defect;HP:0000430|Underdeveloped nasal alae
deafness-craniofacial syndrome	HP:0001596|Hair loss;HP:0000324|Asymmetry of face;HP:0000322|Short philtrum;HP:0000324|Facial asymmetry;HP:0000407|Sensorineural hearing impairment;HP:0000490|Deeply set eye;HP:0000200|Deficiency of lingual frenulum;HP:0000582|Upslanted palpebral fissure;HP:0002007|Frontal bossing;HP:0004524|Temporal hypotrichosis;HP:0000365|Hearing impairment;HP:0010297|Bifid tongue;HP:0001643|Patent ductus arteriosus;HP:0000164|Abnormality of the teeth;HP:0000200|Short lingual frenulum;HP:0002007|Frontal protruberance;HP:0000431|Broad nasal root;HP:0000174|Abnormality of the palate;HP:0000431|Wide nasal bridge;HP:0000430|Underdeveloped nasal alae
spondylometaphyseal dysplasia with dentinogenesis imperfecta	HP:0010049|Metacarpal hypoplasia;HP:0002869|Flared iliac wings;HP:0003417|Coronal vertebral clefts;HP:0010230|Cone-shaped epiphyses of the phalanges of the hand;HP:0004625|Biconvex vertebral bodies;HP:0003026|shortened long tubular bones;HP:0000343|Vertical hyperplasia of philtrum;HP:0000275|Decreased width of face;HP:0002098|Respiratory distress;HP:0004322|Stature below 3rd percentile;HP:0002970|Genu varum;HP:0010585|Small end part of bone;HP:0000684|Delayed eruption of teeth;HP:0001270|Motor retardation;HP:0000703|Dentinogenesis imperfecta;HP:0002816|Back knee;HP:0002657|Spondylometaphyseal dysplasia;HP:0003016|Wide metaphyses;HP:0003180|Flat acetabular roof;HP:0002650|Scoliosis;HP:0000774|Low chest circumference;HP:0000939|Osteoporosis;HP:0003027|Mesomelia;HP:0000926|Flattened vertebral bodies;HP:0009803|Hypoplastic/small phalanges of the hand;HP:0001216|Delayed maturation of carpal bones;HP:0001382|Hyperextensible joints;HP:0003021|Metaphyseal cupping;HP:0011220|Prominent forehead;HP:0010582|Irregular epiphyses;HP:0000768|Pectus carinatum
juvenile temporal arteritis	HP:0001974|Leukocytosis;HP:0002633|Vasculitis;HP:0003193|Allergic rhinitis;HP:0000509|Conjunctivitis;HP:0002637|Cerebral ischemia;HP:0200036|Skin nodule;HP:0002315|Headache;HP:0001880|Eosinophilia
acrofacial dysostosis, palagonia type	HP:0003777|Pili torti;HP:0000677|Failure of development of more than six teeth;HP:0004322|Stature below 3rd percentile;HP:0010554|Cutaneous syndactyly of hands;HP:0003468|Vertebral anomalies;HP:0100333|Unilateral cheiloschisis;HP:0002650|Scoliosis;HP:0003311|Odontoid hypoplasia;HP:0000204|Cleft upper lip;HP:0001057|Aplasia cutis congenita;HP:0010044|Shortened 4th long bone of hand;HP:0004614|Spina bifida occulta at S1
microcephaly-cardiomyopathy	HP:0001249|Mental retardation;HP:0001644|Congestive cardiomyopathy;HP:0000252|Small head circumference;HP:0004209|Clinodactyly of fifth digit;HP:0001852|Wide space between first and second toes
pelvis-shoulder dysplasia	HP:0003418|Back pain;HP:0000894|Short clavicles;HP:0001374|Congenital hip dislocation;HP:0004322|Stature below 3rd percentile;HP:0004209|Clinodactyly of fifth digit;HP:0000588|Optic disk coloboma;HP:0003274|Hypoplastic acetabula;HP:0002938|Exaggerated lumbar lordosis;HP:0003298|Spina bifida occulta;HP:0000568|Abnormally small globe of eye;HP:0007759|Cloudy cornea;HP:0000882|Hypoplastic scapula;HP:0000612|Iris coloboma;HP:0000946|Small iliac bones
familial cerebral cavernous malformation	HP:0030430|Neuroma;HP:0001250|Seizures;HP:0002572|Episodic vomiting;HP:0007872|Choroidal hemangioma;HP:0100543|Cognitive impairment;HP:0100561|Spinal cord lesion;HP:0002650|Scoliosis;HP:0011276|Vascular skin abnormality;HP:0002516|Increased intracranial pressure;HP:0002858|Meningioma;HP:0011513|Retinal cavernous angioma;HP:0001342|Cerebral hemorrhage;HP:0012748|Focal T2 hyperintense brainstem lesion;HP:0012721|Venous malformation;HP:0002315|Headache;HP:0001028|Hemangioma;HP:0012749|Focal T2 hypointense brainstem lesion
cahmr syndrome	HP:0007971|Congenital lamellar cataracts;HP:0004554|Generalized hypertrichosis;HP:0001249|Mental retardation
achalasia-microcephaly syndrome	HP:0000286|Epicanthus;HP:0002571|Achalasia;HP:0000252|Small head circumference;HP:0000347|Micrognathia;HP:0000303|Mandibular prognathia;HP:0007477|Abnormal dermatoglyphics;HP:0000252|Microcephaly;HP:0000400|Macrotia;HP:0000448|Prominent nose;HP:0001249|Mental retardation;HP:0001510|Growth delay;HP:0001249|Intellectual disability
microcephalic primordial dwarfism, toriello type	HP:0000518|Cataract;HP:0000347|Hypoplasia of mandible;HP:0002119|Ventriculomegaly;HP:0009466|Radially deviated phalanges;HP:0002205|Frequent respiratory infections;HP:0005930|Abnormality of epiphysis morphology;HP:0006297|Hypoplasia of tooth enamel;HP:0001156|Brachydactyly syndrome;HP:0002850|Decreased IgM level;HP:0002205|Recurrent respiratory infections;HP:0009638|Short proximal thumb bone;HP:0004279|Hypoplastic hands;HP:0010107|Short proximal phalanges of halluces;HP:0003510|Proportionate dwarfism;HP:0030084|Clinodactyly;HP:0000772|Abnormality of the ribs;HP:0001511|Intrauterine growth retardation;HP:0002714|Downturned corners of mouth;HP:0001249|Mental retardation;HP:0000494|Downslanted palpebral fissures;HP:0005819|Short middle phalanges;HP:0006297|Hypoplasia of dental enamel;HP:0000252|Small head circumference;HP:0000252|Microcephaly;HP:0002750|Delayed bone maturation;HP:0001875|Neutropenia;HP:0001511|Prenatal onset growth retardation;HP:0001249|Intellectual disability;HP:0004315|IgG deficiency;HP:0002850|IgM deficiency;HP:0003510|Severe short stature;HP:0002750|Delayed skeletal maturation;HP:0001773|Small feet;HP:0003795|Short middle phalanx of toe;HP:0000494|Downward slanting palpebral fissures;HP:0001252|Muscular hypotonia
autosomal recessive primary microcephaly	HP:0002282|Heterotopia;HP:0001263|Global developmental delay;HP:0010864|Intellectual disability, severe;HP:0001274|Agenesis of corpus callosum;HP:0000582|Upslanted palpebral fissure;HP:0000219|Thin upper lip vermilion;HP:0001347|Hyperreflexia;HP:0004322|Short stature;HP:0000122|Unilateral renal agenesis;HP:0000252|Microcephaly;HP:0002119|Ventriculomegaly;HP:0003103|Abnormal cortical bone morphology;HP:0007333|Hypoplasia of the frontal lobes;HP:0001302|Pachygyria;HP:0000076|Vesicoureteral reflux;HP:0001510|Growth delay;HP:0000340|Sloping forehead
mesomelic dysplasia, savarirayan type	HP:0001760|Foot deformities;HP:0002990|Fibular aplasia;HP:0006487|Bowing of the long bones;HP:0004322|Short stature;HP:0002868|Narrow iliac wings;HP:0006633|Glenoid fossa hypoplasia;HP:0006413|Broad tibial metaphyses;HP:0004322|Stature below 3rd percentile;HP:0002652|Skeletal dysplasia;HP:0005736|Short tibia;HP:0006434|Hypoplasia of proximal radius;HP:0008808|High iliac wings;HP:0001263|Developmental retardation;HP:0001476|Late closure of the bregma sutures;HP:0004018|Flared radial metaphysis;HP:0010508|Metatarsus valgus;HP:0003042|Elbow dislocation;HP:0003027|Mesomelia;HP:0001772|Talipes equinovalgus;HP:0003083|Dislocated radius;HP:0001249|Intellectual disability;HP:0002827|Hip dislocation;HP:0000765|Abnormality of the thorax;HP:0002990|Absent calf bone
diabetic embryopathy	HP:0000028|Cryptorchidism;HP:0001629|Ventricular septal defect;HP:0000365|Hearing impairment;HP:0000464|Abnormality of the neck;HP:0004414|Abnormality of the pulmonary artery;HP:0008678|Renal hypoplasia/aplasia;HP:0000098|Tall stature;HP:0000347|Micrognathia;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0000707|Abnormality of the nervous system;HP:0002007|Frontal bossing;HP:0000126|Hydronephrosis;HP:0002564|Malformation of the heart and great vessels;HP:0008056|Aplasia/Hypoplasia affecting the eye;HP:0001636|Tetralogy of Fallot;HP:0010318|Aplasia/Hypoplasia of the abdominal wall musculature;HP:0000008|Abnormality of female internal genitalia;HP:0000175|Cleft palate;HP:0005107|Abnormality of the sacrum;HP:0010301|Spinal dysraphism;HP:0000252|Microcephaly;HP:0001679|Abnormality of the aorta;HP:0001195|Single umbilical artery;HP:0003422|Vertebral segmentation defect;HP:0001669|Transposition of the great arteries;HP:0000073|Ureteral duplication;HP:0000368|Low-set, posteriorly rotated ears;HP:0001732|Abnormality of the pancreas;HP:0008551|Microtia;HP:0000054|Micropenis;HP:0000238|Hydrocephalus
cleidorhizomelic syndrome	HP:0000889|Abnormality of the clavicle;HP:0004220|Hypoplastic middle phalanx of the 5th finger;HP:0007598|Bilateral single transverse palmar creases;HP:0004209|Clinodactyly of fifth digit;HP:0008905|Rhizomelic short limbs;HP:0005019|Diaphyseal thickening;HP:0000889|Abnormal clavicles;HP:0004209|Clinodactyly of the 5th finger;HP:0004220|Short middle phalanx of the 5th finger;HP:0008905|Rhizomelia;HP:0001156|Brachydactyly syndrome
acrocraniofacial dysostosis	HP:0000767|Funnel chest;HP:0000262|Turricephaly;HP:0000520|Proptosis;HP:0002869|Flared iliac wings;HP:0004467|Pit in front of the ear;HP:0010097|Partial duplication of the distal phalanx of the hallux;HP:0011453|Abnormality of the incus;HP:0004322|Short stature;HP:0000347|Hypoplasia of mandible;HP:0000545|Myopia;HP:0000453|Choanal atresia;HP:0001840|Forefoot varus;HP:0001363|Early fusion of cranial sutures;HP:0006288|Advanced eruption of teeth;HP:0000767|Pectus excavatum;HP:0000508|Ptosis;HP:0002673|Coxa valga;HP:0004322|Stature below 3rd percentile;HP:0000347|Micrognathia;HP:0010105|Short first metatarsal;HP:0000506|Telecanthus;HP:0002564|Malformation of the heart and great vessels;HP:0004452|Abnormality of the middle ear ossicles;HP:0003298|Spina bifida occulta;HP:0009882|Short distal phalanx of finger;HP:0000316|Hypertelorism;HP:0004467|Preauricular pit;HP:0009465|Ulnar deviation of finger;HP:0000407|Sensorineural hearing impairment;HP:0000175|Palatoschisis;HP:0000494|Downslanted palpebral fissures;HP:0008388|Abnormality of the toenails;HP:0000632|Lacrimation abnormality;HP:0000925|Abnormality of the vertebral column;HP:0000175|Cleft palate;HP:0003312|Abnormal form of the vertebral bodies;HP:0011454|Abnormality of the malleus;HP:0000252|Microcephaly;HP:0003272|Abnormality of the hip bone;HP:0001182|Tapered finger;HP:0002857|Genu valgum;HP:0000405|Conductive hearing impairment;HP:0000520|Anterior bulging of the globe of eye;HP:0000322|Short philtrum;HP:0000263|Oxycephaly;HP:0000426|Prominent nasal bridge;HP:0001363|Craniosynostosis;HP:0010034|Short 1st metacarpal;HP:0000405|Conductive hearing loss;HP:0001199|Triphalangeal thumb;HP:0006958|Abnormal brainstem auditory-evoked potentials;HP:0000463|Anteverted nares;HP:0011304|Broad thumb;HP:0000407|sensorineural hearing loss;HP:0000368|Low-set, posteriorly rotated ears;HP:0000494|Downward slanting palpebral fissures;HP:0000377|Abnormality of the pinna;HP:0000508|Drooping upper eyelid;HP:0001231|Abnormality of the fingernails;HP:0000601|Closely spaced eyes;HP:0000340|Sloping forehead
brachymetapody-anodontia-hypotrichosis-albinoidism	HP:0000066|Labial hypoplasia;HP:0000639|Nystagmus;HP:0010049|Metacarpal hypoplasia;HP:0000486|Squint eyes;HP:0000518|Cataract;HP:0002555|Absent pubic hair;HP:0002221|Absent axillary hair;HP:0001006|Marked hypotrichosis;HP:0007759|Cloudy cornea;HP:0002557|Hypoplastic nipples;HP:0004322|Stature below 3rd percentile;HP:0000369|Low-set ears;HP:0001831|Short toes;HP:0000327|Maxillary micrognathia;HP:0000545|Near sightedness;HP:0000653|Hypotrichosis of eyelashes;HP:0008070|Thinned hair;HP:0009803|Hypoplastic/small phalanges of the hand;HP:0010743|Shortened metatarsals;HP:0000674|Anodontia;HP:0000494|Downward slanting palpebral fissures;HP:0009743|Distichiasis of eyelid eyelashes
chondrodysplasia-pseudohermaphroditism syndrome	HP:0001591|Narrow, bell-shaped thorax;HP:0010049|Metacarpal hypoplasia;HP:0005621|Trapezoidal shaped vertebral bodies;HP:0009803|Hypoplastic/small phalanges of the hand;HP:0000252|Small head circumference;HP:0000037|Male pseudohermaphroditism;HP:0000889|Abnormal clavicles;HP:0003510|Proportionate dwarfism;HP:0001320|Hypoplasia of the cerebellar vermis;HP:0007676|Hypoplasia of the iris;HP:0002983|Micromelia
cleft, median, of upper lip with polyps of facial skin and nasal mucosa	HP:0100582|Nasal polyps;HP:0000218|Increased palatal height;HP:0000193|Uvula bifida;HP:0000316|Increased distance between eye sockets;HP:0000494|Downward slanting palpebral fissures;HP:0006866|Midline central nervous system lipomas;HP:0000337|Increased bitemporal dimension;HP:0000161|Central cleft upper lip;HP:0000612|Iris coloboma;HP:0010609|Skin tags
angel-shaped phalango-epiphyseal dysplasia	HP:0003088|Premature arthritis;HP:0004322|Stature below 3rd percentile;HP:0001385|Hip dysplasia;HP:0010034|Short 1st metacarpal;HP:0001216|Delayed maturation of carpal bones;HP:0004322|Short stature;HP:0002750|Delayed skeletal maturation;HP:0008843|Hip osteoarthritis;HP:0005692|Joint hyperflexibility;HP:0000668|Hypodontia;HP:0005819|Short middle phalanx of finger;HP:0000684|Delayed eruption of teeth;HP:0005930|Abnormality of epiphysis morphology;HP:0009193|Metacarpal pseudoepiphyses;HP:0001187|Finger joint hyperextensibility;HP:0004220|Short middle phalanx of the 5th finger
hinman syndrome	HP:0002607|Bowel incontinence;HP:0000805|Enuresis;HP:0000126|Hydronephrosis;HP:0002019|Constipation;HP:0000010|Recurrent urinary tract infections;HP:0000076|Vesicoureteral reflux;HP:0000083|Renal insufficiency
puerto rican infant hypotonia syndrome	HP:0001252|Hypotonia;HP:0000028|Cryptorchidism;HP:0001250|Seizures;HP:0001018|Abnormal palmar dermatoglyphics;HP:0002307|Sialorrhea;HP:0001263|Developmental retardation;HP:0001939|Laboratory abnormality;HP:0005832|Dysharmonic delayed bone age;HP:0000426|Protruding bridge of nose;HP:0000218|Increased palatal height;HP:0001182|Tapered finger;HP:0002353|Abnormal EEG;HP:0000316|Increased distance between eye sockets;HP:0000194|Slack jawed appearance;HP:0003270|Distended abdomen;HP:0011344|Severe global developmental delay;HP:0012450|Chronic constipation;HP:0000343|Vertical hyperplasia of philtrum;HP:0000189|Decreased transverse dimension of palate
kienbock disease	HP:0002829|Arthralgia;HP:0002653|Bone pain;HP:0003019|Abnormality of the wrist;HP:0010885|Aseptic necrosis;HP:0002758|Osteoarthritis;HP:0010886|Osteochondrosis dissecans;HP:0001376|Limitation of joint mobility
epiphyseal dysplasia, microcephaly, and nystagmus	HP:0000639|Nystagmus;HP:0004322|Stature below 3rd percentile;HP:0000252|Small head circumference;HP:0001518|Small for gestational age;HP:0010585|Small end part of bone;HP:0002656|Epiphyseal dysplasia;HP:0003177|Squaring of iliac bones;HP:0001256|Mild mental retardation;HP:0010582|Irregular epiphyses;HP:0003182|Shallow acetabulae
suprabulbar paresis, congenital	HP:0001250|Seizures;HP:0000252|Small head circumference;HP:0002307|Sialorrhea;HP:0002353|Abnormal EEG;HP:0001324|Muscular weakness;HP:0001260|Dysarthric speech;HP:0001249|Mental retardation
mucopolysaccharidosis type 1	HP:0004322|Short stature;HP:0000246|Sinusitis;HP:0001654|Abnormality of the heart valves;HP:0000365|Hearing impairment;HP:0005930|Abnormality of epiphysis morphology;HP:0002376|Developmental regression;HP:0001373|Joint dislocation;HP:0005105|Abnormal nasal morphology;HP:0005280|Depressed nasal bridge;HP:0000232|Everted lower lip vermilion;HP:0002205|Recurrent respiratory infections;HP:0001635|Congestive heart failure;HP:0002829|Arthralgia;HP:0003401|Paresthesia;HP:0001171|Split hand;HP:0001639|Hypertrophic cardiomyopathy;HP:0000407|Sensorineural hearing impairment;HP:0004374|Hemiplegia/hemiparesis;HP:0002024|Malabsorption;HP:0000271|Abnormality of the face;HP:0003312|Abnormal form of the vertebral bodies;HP:0007957|Corneal opacity;HP:0000256|Macrocephaly;HP:0001646|Abnormality of the aortic valve;HP:0000293|Full cheeks;HP:0000294|Low anterior hairline;HP:0001608|Abnormality of the voice;HP:0000389|Chronic otitis media;HP:0002650|Scoliosis;HP:0003272|Abnormality of the hip bone;HP:0002230|Generalized hirsutism;HP:0000648|Optic atrophy;HP:0009928|Thick nasal alae;HP:0000268|Dolichocephaly;HP:0012735|Cough;HP:0000023|Inguinal hernia;HP:0003416|Spinal canal stenosis;HP:0100625|Enlarged thorax;HP:0001249|Intellectual disability;HP:0001744|Splenomegaly;HP:0000691|Microdontia;HP:0000179|Thick lower lip vermilion;HP:0000505|Visual impairment;HP:0002104|Apnea;HP:0000488|Retinopathy;HP:0001387|Joint stiffness;HP:0008155|Mucopolysacchariduria;HP:0100261|Abnormal tendon morphology;HP:0100765|Abnormality of the tonsils;HP:0000687|Widely spaced teeth;HP:0000280|Coarse facial features;HP:0010885|Aseptic necrosis;HP:0000212|Gingival overgrowth;HP:0100790|Hernia;HP:0000501|Glaucoma;HP:0000238|Hydrocephalus;HP:0000944|Abnormality of the metaphyses
richards-rundle syndrome	HP:0000639|Nystagmus;HP:0003693|Distal amyotrophy;HP:0001251|Ataxia;HP:0001288|Gait disturbance;HP:0000815|Hypergonadotropic hypogonadism;HP:0001347|Hyperreflexia;HP:0001387|Joint stiffness;HP:0001268|Mental deterioration;HP:0002919|Ketonuria;HP:0000365|Hearing impairment;HP:0004349|Reduced bone mineral density;HP:0000268|Dolichocephaly;HP:0001276|Hypertonia
faciocardiomelic dysplasia, lethal	HP:0009486|Radial deviation of hands;HP:0000954|Simian creases;HP:0001883|Talipes;HP:0000171|Hypoglossia;HP:0001518|Small for gestational age;HP:0003038|Hypoplastic fibula;HP:0000160|Small mouth;HP:0030680|Abnormality of cardiovascular system morphology;HP:0000347|Hypoplasia of mandible;HP:0000278|Receding lower jaw;HP:0009778|Small thumbs;HP:0002984|Hypoplastic radius;HP:0003022|Short ulna;HP:0009237|Short little finger
high molecular weight kininogen deficiency	HP:0005527|Williams factor deficiency;HP:0003645|Delayed thromboplastin generation
brachioskeletogenital syndrome	HP:0000767|Funnel chest;HP:0000925|Abnormality of the vertebral column;HP:0000303|Increased size of lower jaw;HP:0000327|Maxillary micrognathia;HP:0000193|Uvula bifida;HP:0000316|Increased distance between eye sockets;HP:0000431|Broad nasal root;HP:0000808|Penoscrotal hypospadias;HP:0001249|Mental retardation
charcot-marie-tooth disease type 2h	HP:0007083|Hyperreflexia in knees;HP:0003376|'steppage' gait;HP:0003693|Muscle atrophy, distal;HP:0002936|Decreased distal sensation;HP:0003438|Absent Achilles reflex;HP:0003380|Decreased number of peripheral myelinated nerve fibers;HP:0002460|Weakness of distal muscles;HP:0009027|Foot drop;HP:0007350|Hyperreflexia in upper limbs;HP:0001761|Pes cavus
vulvovaginal gingival syndrome	HP:0010783|Erythema;HP:0011118|Abnormality of tumor necrosis factor secretion;HP:0000230|Gingivitis;HP:0001036|Parakeratosis;HP:0012537|Food intolerance;HP:0000155|Oral ulcer;HP:0000989|Pruritus;HP:0012531|Pain;HP:0200041|Skin erosion;HP:0000055|Abnormality of female external genitalia;HP:0001807|Ridged nail
hunter-mcalpine craniosynostosis	HP:0004322|Stature below 3rd percentile;HP:0000160|Small mouth;HP:0007874|Almond-shaped palpebral fissure;HP:0001363|Early fusion of cranial sutures;HP:0002714|Downturned corners of mouth;HP:0001249|Mental retardation
hemangiopericytoma, malignant	HP:0001626|Cardiovascular abnormality
minicore myopathy with external ophthalmoplegia	HP:0009046|Difficulty running;HP:0000544|CPEO;HP:0002089|Hypoplastic lungs;HP:0002205|Frequent respiratory infections;HP:0001561|Hydramnios;HP:0001789|Hydrops fetalis;HP:0003327|Axial muscle weakness;HP:0003557|Increased fiber size variation;HP:0003324|Muscle weakness, diffuse;HP:0001270|Motor retardation;HP:0008872|Feeding difficulties in infancy;HP:0009025|Increased connective tissue;HP:0002058|Myopathic facies;HP:0003701|Proximal limb muscle weakness;HP:0000218|Increased palatal height;HP:0003202|Neurogenic muscle atrophy, especially in the lower limbs;HP:0001284|Areflexia;HP:0001388|Joint laxity;HP:0002650|Scoliosis;HP:0003798|Nemaline rods;HP:0003560|Muscular dystrophy;HP:0001558|Decreased fetal movement;HP:0003738|Muscle pain on exercise;HP:0003787|Type 1 and type 2 muscle fiber minicore regions;HP:0000508|Drooping upper eyelid;HP:0001319|Hypotonia, in neonatal onset;HP:0010628|Facial palsy, unilateral or bilateral;HP:0002093|progressive respiratory failure
angioma, tufted	HP:0012329|Angioblastoma;HP:0001000|Pigmentary changes;HP:0011276|Vascular skin abnormality
optic atrophy 2	HP:0007083|Hyperreflexia in knees;HP:0001337|Tremor;HP:0002075|Dysdiadochokinesis;HP:0003487|Extensor plantar reflexes;HP:0003438|Absent Achilles reflex;HP:0001260|Dysarthric speech;HP:0001249|Mental retardation;HP:0000648|Optic-nerve degeneration
vohwinkel syndrome with ichthyosis	HP:0000962|Hyperkeratosis;HP:0001036|Parakeratosis;HP:0040162|Orthokeratosis
porokeratosis 2, palmar, plantar, and disseminated type	HP:0100870|Teleangiectases of soles;HP:0100869|Palmar telangiectasia;HP:0200044|Porokeratosis
mitral valve prolapse 2	HP:0001653|Mitral valve insufficiency;HP:0001634|Mitral valve prolapse
pachyonychia congenita 1	HP:0001805|Thick nail;HP:0002745|Oral idiopathic leukoplakia;HP:0000972|Thick palms and soles;HP:0007502|Hyperkeratosis follicularis
meretoja syndrome	HP:0000973|Dermatomegaly;HP:0001438|Abnormality of the abdomen;HP:0001271|Polyneuropathy;HP:0001149|Lattice corneal dystrophy;HP:0001283|Bulbar palsies;HP:0000100|Nephrosis;HP:0003216|Generalized amyloid deposition;HP:0001638|Cardiomyopathy;HP:0000083|Renal insufficiency
cernunnos-xlf deficiency	HP:0001873|Thrombocytopenia;HP:0002721|Immunodeficiency;HP:0000444|Convex nasal ridge;HP:0000252|Microcephaly;HP:0002960|Autoimmunity;HP:0004313|Decreased antibody level in blood;HP:0001888|Lymphopenia;HP:0002718|Recurrent bacterial infections;HP:0010976|B lymphocytopenia;HP:0004429|Recurrent viral infections;HP:0000414|Bulbous nose;HP:0005403|Decrease in T cell count;HP:0000320|Bird-like facies;HP:0001903|Anemia;HP:0001510|Growth delay;HP:0000340|Sloping forehead
non-epidermolytic palmoplantar keratoderma	HP:0010783|Erythema;HP:0007435|Diffuse palmoplantar keratoderma;HP:0000989|Pruritus;HP:0200042|Skin ulcer;HP:0200034|Papule;HP:0008066|Abnormal blistering of the skin
2q23.1 microdeletion syndrome	HP:0000028|Cryptorchidism;HP:0010864|Intellectual disability, severe;HP:0100716|Self-injurious behavior;HP:0002553|Highly arched eyebrow;HP:0004322|Short stature;HP:0000749|Paroxysmal bursts of laughter;HP:0002019|Constipation;HP:0000248|Brachycephaly;HP:0000232|Everted lower lip vermilion;HP:0000337|Broad forehead;HP:0008736|Hypoplasia of penis;HP:0000750|Delayed speech and language development;HP:0000752|Hyperactivity;HP:0002591|Polyphagia;HP:0001251|Ataxia;HP:0001852|Sandal gap;HP:0000733|Stereotypy;HP:0010804|Tented upper lip vermilion;HP:0004279|Short palm;HP:0000194|Open mouth;HP:0001510|Growth delay;HP:0001250|Seizures;HP:0000252|Microcephaly;HP:0000664|Synophrys;HP:0002230|Generalized hirsutism;HP:0000272|Malar flattening;HP:0004209|Clinodactyly of the 5th finger;HP:0001572|Macrodontia;HP:0002360|Sleep disturbance;HP:0001385|Hip dysplasia;HP:0000280|Coarse facial features;HP:0001252|Muscular hypotonia
proximal 16p11.2 microdeletion syndrome	HP:0001263|Global developmental delay;HP:0000588|Optic nerve coloboma;HP:0000568|Microphthalmia;HP:0000545|Myopia;HP:0002119|Ventriculomegaly;HP:0001659|Aortic regurgitation;HP:0001631|Atrial septal defect;HP:0000337|Broad forehead;HP:0002463|Language impairment;HP:0002937|Hemivertebrae;HP:0000347|Micrognathia;HP:0003396|Syringomyelia;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0011968|Feeding difficulties;HP:0002020|Gastroesophageal reflux;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0000175|Cleft palate;HP:0000256|Macrocephaly;HP:0002650|Scoliosis;HP:0000528|Anophthalmia;HP:0000709|Psychosis;HP:0007018|Attention deficit hyperactivity disorder;HP:0000272|Malar flattening;HP:0002021|Pyloric stenosis;HP:0001249|Intellectual disability;HP:0000717|Autism;HP:0001513|Obesity;HP:0001161|Hand polydactyly;HP:0001252|Muscular hypotonia;HP:0000776|Congenital diaphragmatic hernia
familial thyroid dyshormonogenesis	HP:0001263|Global developmental delay;HP:0000853|Goiter;HP:0003270|Abdominal distention;HP:0000239|Large fontanelles;HP:0001537|Umbilical hernia;HP:0004322|Short stature;HP:0012378|Fatigue;HP:0002019|Constipation;HP:0000158|Macroglossia;HP:0000280|Coarse facial features;HP:0001510|Growth delay;HP:0001252|Muscular hypotonia;HP:0000952|Jaundice;HP:0000821|Hypothyroidism;HP:0100786|Hypersomnia;HP:0000271|Abnormality of the face;HP:0001249|Intellectual disability
17q23.1q23.2 microdeletion syndrome	HP:0000160|Narrow mouth;HP:0002094|Dyspnea;HP:0002553|Highly arched eyebrow;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0000527|Long eyelashes;HP:0005930|Abnormality of epiphysis morphology;HP:0005280|Depressed nasal bridge;HP:0001376|Limitation of joint mobility;HP:0001631|Atrial septal defect;HP:0000750|Delayed speech and language development;HP:0007598|Bilateral single transverse palmar creases;HP:0010511|Long toe;HP:0002007|Frontal bossing;HP:0003279|Coxa magna;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0001852|Sandal gap;HP:0000960|Sacral dimple;HP:0001643|Patent ductus arteriosus;HP:0000049|Shawl scrotum;HP:0001511|Intrauterine growth retardation;HP:0002020|Gastroesophageal reflux;HP:0000708|Behavioral abnormality;HP:0000286|Epicanthus;HP:0002803|Congenital contracture;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0011342|Mild global developmental delay;HP:0000389|Chronic otitis media;HP:0011343|Moderate global developmental delay;HP:0000498|Blepharitis;HP:0011803|Bifid nose;HP:0003065|Patellar hypoplasia;HP:0001508|Failure to thrive;HP:0000272|Malar flattening;HP:0004209|Clinodactyly of the 5th finger;HP:0000411|Protruding ear;HP:0001347|Hyperreflexia;HP:0000687|Widely spaced teeth;HP:0001763|Pes planus;HP:0003182|Shallow acetabular fossae;HP:0100807|Long fingers;HP:0001252|Muscular hypotonia;HP:0002092|Pulmonary arterial hypertension;HP:0000414|Bulbous nose
familial pseudohyperkalemia	HP:0001923|Reticulocytosis;HP:0005518|Increased mean corpuscular volume;HP:0000822|Hypertension;HP:0002153|Hyperkalemia;HP:0004446|Stomatocytosis;HP:0004802|Episodic hemolytic anemia
8p11.2 deletion syndrome	HP:0000044|Hypogonadotrophic hypogonadism;HP:0000028|Cryptorchidism;HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0000581|Blepharophimosis;HP:0004322|Short stature;HP:0000027|Azoospermia;HP:0000218|High palate;HP:0005280|Depressed nasal bridge;HP:0001631|Atrial septal defect;HP:0000135|Hypogonadism;HP:0008736|Hypoplasia of penis;HP:0000582|Upslanted palpebral fissure;HP:0000347|Micrognathia;HP:0001762|Talipes equinovarus;HP:0000316|Hypertelorism;HP:0000960|Sacral dimple;HP:0001643|Patent ductus arteriosus;HP:0004467|Preauricular pit;HP:0005815|Supernumerary ribs;HP:0011968|Feeding difficulties;HP:0001510|Growth delay;HP:0000612|Iris coloboma;HP:0001878|Hemolytic anemia;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000252|Microcephaly;HP:0000458|Anosmia;HP:0001249|Intellectual disability;HP:0000556|Retinal dystrophy;HP:0001744|Splenomegaly;HP:0000864|Abnormality of the hypothalamus-pituitary axis;HP:0001634|Mitral valve prolapse;HP:0004444|Spherocytosis;HP:0008572|External ear malformation;HP:0000482|Microcornea
14q12 microdeletion syndrome	HP:0001274|Agenesis of corpus callosum;HP:0010864|Intellectual disability, severe;HP:0005487|Prominent metopic ridge;HP:0000581|Blepharophimosis;HP:0003196|Short nose;HP:0001344|Absent speech;HP:0002376|Developmental regression;HP:0005280|Depressed nasal bridge;HP:0000232|Everted lower lip vermilion;HP:0000303|Mandibular prognathia;HP:0000158|Macroglossia;HP:0000733|Stereotypy;HP:0010804|Tented upper lip vermilion;HP:0011968|Feeding difficulties;HP:0001510|Growth delay;HP:0000494|Downslanted palpebral fissures;HP:0002020|Gastroesophageal reflux;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0009738|Abnormality of the antihelix;HP:0003781|Excessive salivation;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0000319|Smooth philtrum;HP:0002808|Kyphosis;HP:0000411|Protruding ear;HP:0001252|Muscular hypotonia;HP:0000414|Bulbous nose;HP:0100540|Palpebral edema
congenital bile acid synthesis defect type 3	HP:0002612|Congenital hepatic fibrosis;HP:0002910|Elevated hepatic transaminases;HP:0001744|Splenomegaly;HP:0002239|Gastrointestinal hemorrhage;HP:0006566|Neonatal cholestatic liver disease;HP:0001399|Hepatic failure;HP:0001928|Abnormality of coagulation;HP:0001080|Biliary tract abnormality;HP:0000989|Pruritus;HP:0001508|Failure to thrive;HP:0000952|Jaundice;HP:0002240|Hepatomegaly
20p12.3 microdeletion syndrome	HP:0001263|Global developmental delay;HP:0000160|Narrow mouth;HP:0004322|Short stature;HP:0002119|Ventriculomegaly;HP:0005280|Depressed nasal bridge;HP:0001631|Atrial septal defect;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0000494|Downslanted palpebral fissures;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000256|Macrocephaly;HP:0000327|Hypoplasia of the maxilla;HP:0000293|Full cheeks;HP:0000272|Malar flattening;HP:0000431|Wide nasal bridge;HP:0010059|Broad hallux phalanx;HP:0011304|Broad thumb;HP:0001252|Muscular hypotonia;HP:0001716|Wolff-Parkinson-White syndrome;HP:0008551|Microtia;HP:0000768|Pectus carinatum;HP:0000391|Thickened helices
joubert syndrome with ocular defect	HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0001274|Agenesis of corpus callosum;HP:0001651|Dextrocardia;HP:0002553|Highly arched eyebrow;HP:0001320|Cerebellar vermis hypoplasia;HP:0000657|Oculomotor apraxia;HP:0002251|Aganglionic megacolon;HP:0000572|Visual loss;HP:0002793|Abnormal pattern of respiration;HP:0000508|Ptosis;HP:0001251|Ataxia;HP:0002564|Malformation of the heart and great vessels;HP:0000276|Long face;HP:0000486|Strabismus;HP:0001829|Foot polydactyly;HP:0011968|Feeding difficulties;HP:0000612|Iris coloboma;HP:0001250|Seizures;HP:0000175|Cleft palate;HP:0001288|Gait disturbance;HP:0002650|Scoliosis;HP:0003468|Abnormality of the vertebrae;HP:0000480|Retinal coloboma;HP:0001249|Intellectual disability;HP:0000202|Oral cleft;HP:0000556|Retinal dystrophy;HP:0000426|Prominent nasal bridge;HP:0000864|Abnormality of the hypothalamus-pituitary axis;HP:0001337|Tremor;HP:0000463|Anteverted nares;HP:0002126|Polymicrogyria;HP:0004422|Biparietal narrowing;HP:0000368|Low-set, posteriorly rotated ears;HP:0002084|Encephalocele;HP:0001161|Hand polydactyly;HP:0001252|Muscular hypotonia;HP:0000238|Hydrocephalus;HP:0002104|Apnea;HP:0002419|Molar tooth sign on MRI
congenital isolated acth deficiency	HP:0012378|Fatigue;HP:0002173|Hypoglycemic seizures;HP:0011735|Adrenocorticotropin deficient adrenal insufficiency;HP:0002902|Hyponatremia;HP:0002615|Hypotension;HP:0001998|Neonatal hypoglycemia;HP:0012115|Hepatitis;HP:0000835|Adrenal hypoplasia;HP:0002153|Hyperkalemia;HP:0008163|Decreased circulating cortisol level;HP:0006579|Prolonged neonatal jaundice
8p23.1 microdeletion syndrome	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0000470|Short neck;HP:0003196|Short nose;HP:0004322|Short stature;HP:0001824|Weight loss;HP:0000233|Thin vermilion border;HP:0000218|High palate;HP:0000047|Hypospadias;HP:0000490|Deeply set eye;HP:0000582|Upslanted palpebral fissure;HP:0000347|Micrognathia;HP:0000369|Low-set ears;HP:0002564|Malformation of the heart and great vessels;HP:0000486|Strabismus;HP:0001643|Patent ductus arteriosus;HP:0001636|Tetralogy of Fallot;HP:0001639|Hypertrophic cardiomyopathy;HP:0001511|Intrauterine growth retardation;HP:0001510|Growth delay;HP:0000494|Downslanted palpebral fissures;HP:0001256|Intellectual disability, mild;HP:0000708|Behavioral abnormality;HP:0000286|Epicanthus;HP:0001250|Seizures;HP:0000293|Full cheeks;HP:0000252|Microcephaly;HP:0004415|Pulmonary artery stenosis;HP:0001182|Tapered finger;HP:0009623|Proximal placement of thumb;HP:0007018|Attention deficit hyperactivity disorder;HP:0000431|Wide nasal bridge;HP:0004383|Hypoplastic left heart;HP:0001679|Abnormality of the aorta;HP:0010059|Broad hallux phalanx;HP:0100625|Enlarged thorax;HP:0002465|Poor speech;HP:0006610|Wide intermamillary distance;HP:0000426|Prominent nasal bridge;HP:0001513|Obesity;HP:0000348|High forehead;HP:0011304|Broad thumb;HP:0001669|Transposition of the great arteries;HP:0004422|Biparietal narrowing;HP:0001763|Pes planus;HP:0006695|Atrioventricular canal defect;HP:0008572|External ear malformation;HP:0001671|Abnormality of the cardiac septa;HP:0000776|Congenital diaphragmatic hernia
ehlers-danlos syndrome with periventricular heterotopia	HP:0001892|Abnormal bleeding;HP:0000963|Thin skin;HP:0002020|Gastroesophageal reflux;HP:0002999|Patellar dislocation;HP:0001382|Joint hypermobility;HP:0007359|Focal seizures;HP:0003834|Shoulder dislocation;HP:0001654|Abnormality of the heart valves;HP:0002650|Scoliosis;HP:0001643|Patent ductus arteriosus;HP:0007165|Periventricular gray matter heterotopia;HP:0012639|Abnormality of nervous system morphology;HP:0001659|Aortic regurgitation;HP:0100790|Hernia;HP:0002021|Pyloric stenosis;HP:0001724|Aortic dilatation
joubert syndrome with renal defect	HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0001274|Agenesis of corpus callosum;HP:0002553|Highly arched eyebrow;HP:0001320|Cerebellar vermis hypoplasia;HP:0000657|Oculomotor apraxia;HP:0002251|Aganglionic megacolon;HP:0002793|Abnormal pattern of respiration;HP:0000508|Ptosis;HP:0000083|Renal insufficiency;HP:0001251|Ataxia;HP:0002564|Malformation of the heart and great vessels;HP:0000276|Long face;HP:0000486|Strabismus;HP:0000112|Nephropathy;HP:0011968|Feeding difficulties;HP:0000612|Iris coloboma;HP:0001250|Seizures;HP:0000175|Cleft palate;HP:0001288|Gait disturbance;HP:0002650|Scoliosis;HP:0001249|Intellectual disability;HP:0000202|Oral cleft;HP:0000426|Prominent nasal bridge;HP:0000864|Abnormality of the hypothalamus-pituitary axis;HP:0001337|Tremor;HP:0000463|Anteverted nares;HP:0002126|Polymicrogyria;HP:0004422|Biparietal narrowing;HP:0000368|Low-set, posteriorly rotated ears;HP:0002084|Encephalocele;HP:0001161|Hand polydactyly;HP:0001252|Muscular hypotonia;HP:0000238|Hydrocephalus;HP:0002104|Apnea;HP:0002419|Molar tooth sign on MRI
15q14 microdeletion syndrome	HP:0001263|Global developmental delay;HP:0001061|Acne;HP:0000307|Pointed chin;HP:0001601|Laryngomalacia;HP:0004322|Short stature;HP:0001629|Ventricular septal defect;HP:0001631|Atrial septal defect;HP:0000750|Delayed speech and language development;HP:0000490|Deeply set eye;HP:0000369|Low-set ears;HP:0000276|Long face;HP:0000343|Long philtrum;HP:0000164|Abnormality of the teeth;HP:0001250|Seizures;HP:0000175|Cleft palate;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0000319|Smooth philtrum;HP:0002808|Kyphosis;HP:0000023|Inguinal hernia;HP:0001249|Intellectual disability;HP:0000322|Short philtrum;HP:0000717|Autism;HP:0000426|Prominent nasal bridge;HP:0000341|Narrow forehead;HP:0002721|Immunodeficiency;HP:0000444|Convex nasal ridge;HP:0004422|Biparietal narrowing
8q12 microduplication syndrome	HP:0002020|Gastroesophageal reflux;HP:0001263|Global developmental delay;HP:0000160|Narrow mouth;HP:0000286|Epicanthus;HP:0000506|Telecanthus;HP:0002553|Highly arched eyebrow;HP:0009921|Duane anomaly;HP:0001629|Ventricular septal defect;HP:0001291|Abnormality of the cranial nerves;HP:0000343|Long philtrum;HP:0000431|Wide nasal bridge;HP:0000248|Brachycephaly;HP:0000637|Long palpebral fissure;HP:0001252|Muscular hypotonia;HP:0007018|Attention deficit hyperactivity disorder;HP:0000407|Sensorineural hearing impairment;HP:0000232|Everted lower lip vermilion;HP:0001631|Atrial septal defect;HP:0000076|Vesicoureteral reflux;HP:0001773|Short foot
8q21.11 microdeletion syndrome	HP:0000028|Cryptorchidism;HP:0000160|Narrow mouth;HP:0000470|Short neck;HP:0000568|Microphthalmia;HP:0000518|Cataract;HP:0000647|Sclerocornea;HP:0000581|Blepharophimosis;HP:0000365|Hearing impairment;HP:0000218|High palate;HP:0000445|Wide nose;HP:0000508|Ptosis;HP:0008736|Hypoplasia of penis;HP:0000347|Micrognathia;HP:0006101|Finger syndactyly;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0000369|Low-set ears;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0007730|Iris hypopigmentation;HP:0000164|Abnormality of the teeth;HP:0004408|Abnormality of the sense of smell;HP:0002714|Downturned corners of mouth;HP:0000494|Downslanted palpebral fissures;HP:0000286|Epicanthus;HP:0007957|Corneal opacity;HP:0002263|Exaggerated cupid's bow;HP:0000293|Full cheeks;HP:0001163|Abnormality of the metacarpal bones;HP:0001999|Abnormal facial shape;HP:0000311|Round face;HP:0001249|Intellectual disability;HP:0000322|Short philtrum;HP:0000348|High forehead;HP:0010489|Absent palmar crease;HP:0100490|Camptodactyly of finger;HP:0000964|Eczema;HP:0001252|Muscular hypotonia;HP:0001611|Nasal speech;HP:0000430|Underdeveloped nasal alae
4q21 microdeletion syndrome	HP:0001263|Global developmental delay;HP:0001274|Agenesis of corpus callosum;HP:0000470|Short neck;HP:0010864|Intellectual disability, severe;HP:0100716|Self-injurious behavior;HP:0000239|Large fontanelles;HP:0002119|Ventriculomegaly;HP:0000365|Hearing impairment;HP:0001770|Toe syndactyly;HP:0001321|Cerebellar hypoplasia;HP:0000527|Long eyelashes;HP:0000233|Thin vermilion border;HP:0005280|Depressed nasal bridge;HP:0000508|Ptosis;HP:0000337|Broad forehead;HP:0000750|Delayed speech and language development;HP:0002007|Frontal bossing;HP:0000369|Low-set ears;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0000733|Stereotypy;HP:0000164|Abnormality of the teeth;HP:0001511|Intrauterine growth retardation;HP:0004279|Short palm;HP:0011344|Severe global developmental delay;HP:0002714|Downturned corners of mouth;HP:0001510|Growth delay;HP:0001773|Short foot;HP:0001250|Seizures;HP:0000293|Full cheeks;HP:0002650|Scoliosis;HP:0000664|Synophrys;HP:0002808|Kyphosis;HP:0002230|Generalized hirsutism;HP:0200055|Small hand;HP:0002360|Sleep disturbance;HP:0000322|Short philtrum;HP:0000717|Autism;HP:0000348|High forehead;HP:0001337|Tremor;HP:0001252|Muscular hypotonia;HP:0002983|Micromelia
supernumerary nostril	HP:3000040|Abnormality of ethmoid sinus;HP:0000453|Choanal atresia;HP:0000519|Congenital cataract;HP:0009934|Supernumerary naris;HP:0000271|Abnormality of the face;HP:0002006|Facial cleft;HP:0000482|Microcornea
thyroid hemiagenesis	HP:0001263|Global developmental delay;HP:0003270|Abdominal distention;HP:0000239|Large fontanelles;HP:0001537|Umbilical hernia;HP:0012378|Fatigue;HP:0002019|Constipation;HP:0000158|Macroglossia;HP:0008191|Thyroid agenesis;HP:0000280|Coarse facial features;HP:0001510|Growth delay;HP:0001252|Muscular hypotonia;HP:0000952|Jaundice;HP:0100786|Hypersomnia;HP:0000271|Abnormality of the face
partial chromosome y deletion	HP:0000028|Cryptorchidism;HP:0000798|Oligospermia;HP:0008734|Decreased testicular size;HP:0008669|Abnormal spermatogenesis;HP:0003251|Male infertility;HP:0011961|Non-obstructive azoospermia
1q41q42 microdeletion syndrome	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0000078|Abnormality of the genital system;HP:0002089|Pulmonary hypoplasia;HP:0000815|Hypergonadotropic hypogonadism;HP:0004322|Short stature;HP:0000601|Hypotelorism;HP:0001360|Holoprosencephaly;HP:0002011|Morphological abnormality of the central nervous system;HP:0005280|Depressed nasal bridge;HP:0000455|Broad nasal tip;HP:0000490|Deeply set eye;HP:0000582|Upslanted palpebral fissure;HP:0002007|Frontal bossing;HP:0000486|Strabismus;HP:0001762|Talipes equinovarus;HP:0011344|Severe global developmental delay;HP:0012471|Thick vermilion border;HP:0001510|Growth delay;HP:0000271|Abnormality of the face;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0000175|Cleft palate;HP:0000525|Abnormality of the iris;HP:0011447|Hyposegmentation of neutrophil nuclei;HP:0000430|Underdeveloped nasal alae;HP:0001792|Small nail;HP:0001249|Intellectual disability;HP:0001319|Neonatal hypotonia;HP:0000280|Coarse facial features;HP:0000176|Submucous cleft hard palate;HP:0000776|Congenital diaphragmatic hernia
cap polyposis	HP:0003270|Abdominal distention;HP:0002582|Chronic atrophic gastritis;HP:0002014|Diarrhea;HP:0200063|Colorectal polyposis;HP:0002019|Constipation;HP:0002027|Abdominal pain;HP:0001824|Weight loss;HP:0002573|Hematochezia
congenital bronchobiliary fistula	HP:0001392|Abnormality of the liver;HP:0002777|Tracheal stenosis
19q13.11 microdeletion syndrome	HP:0000028|Cryptorchidism;HP:0000518|Cataract;HP:0001006|Hypotrichosis;HP:0001629|Ventricular septal defect;HP:0002213|Fine hair;HP:0000365|Hearing impairment;HP:0001770|Toe syndactyly;HP:0002164|Nail dysplasia;HP:0001057|Aplasia cutis congenita;HP:0000233|Thin vermilion border;HP:0005338|Sparse lateral eyebrow;HP:0006315|Single median maxillary incisor;HP:0010761|Broad columella;HP:0000750|Delayed speech and language development;HP:0002205|Recurrent respiratory infections;HP:0000047|Hypospadias;HP:0000963|Thin skin;HP:0001374|Congenital hip dislocation;HP:0006101|Finger syndactyly;HP:0000154|Wide mouth;HP:0002564|Malformation of the heart and great vessels;HP:0002558|Supernumerary nipple;HP:0000276|Long face;HP:0001511|Intrauterine growth retardation;HP:0200102|Sparse or absent eyelashes;HP:0000048|Bifid scrotum;HP:0001510|Growth delay;HP:0011968|Feeding difficulties;HP:0000252|Microcephaly;HP:0001863|Toe clinodactyly;HP:0008070|Sparse hair;HP:0001508|Failure to thrive;HP:0004209|Clinodactyly of the 5th finger;HP:0000430|Underdeveloped nasal alae;HP:0001249|Intellectual disability;HP:0000278|Retrognathia;HP:0006610|Wide intermamillary distance;HP:0004326|Cachexia;HP:0000958|Dry skin;HP:0000348|High forehead;HP:0000482|Microcornea
oligocone trichromacy	HP:0000512|Abnormal electroretinogram;HP:0000613|Photophobia
cutaneous collagenous vasculopathy	HP:0000988|Skin rash;HP:0010783|Erythema;HP:0000967|Petechiae;HP:0012733|Macule;HP:0004367|Abnormality of glycoprotein metabolism;HP:0011276|Vascular skin abnormality;HP:0000978|Bruising susceptibility;HP:0000989|Pruritus;HP:0007489|Diffuse telangiectasia;HP:0007394|Prominent superficial blood vessels
syndactyly type 4	HP:0001199|Triphalangeal thumb;HP:0005736|Short tibia;HP:0010708|1-5 finger syndactyly;HP:0001501|6 metacarpals;HP:0001770|Toe syndactyly;HP:0100490|Camptodactyly of finger;HP:0001161|Hand polydactyly;HP:0001829|Foot polydactyly;HP:0001376|Limitation of joint mobility
heart-hand syndrome type 2	HP:0000028|Cryptorchidism;HP:0003043|Abnormality of the shoulder;HP:0010044|Short 4th metacarpal;HP:0100556|Hemiatrophy;HP:0001156|Brachydactyly syndrome;HP:0003063|Abnormality of the humerus;HP:0002564|Malformation of the heart and great vessels;HP:0003019|Abnormality of the wrist;HP:0001555|Asymmetry of the thorax;HP:0000164|Abnormality of the teeth;HP:0000889|Abnormality of the clavicle;HP:0009908|Anterior creases of earlobe;HP:0001163|Abnormality of the metacarpal bones;HP:0011675|Arrhythmia;HP:0009811|Abnormality of the elbow;HP:0001249|Intellectual disability;HP:0002162|Low posterior hairline;HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0006501|Aplasia/Hypoplasia of the radius;HP:0001387|Joint stiffness;HP:0001161|Hand polydactyly;HP:0000174|Abnormality of the palate;HP:0002997|Abnormality of the ulna;HP:0010047|Short 5th metacarpal;HP:0002983|Micromelia
proximal spinal muscular atrophy	HP:0000772|Abnormality of the ribs;HP:0007126|Proximal amyotrophy;HP:0008956|Proximal lower limb amyotrophy;HP:0001387|Joint stiffness;HP:0001608|Abnormality of the voice;HP:0002757|Recurrent fractures;HP:0003457|EMG abnormality;HP:0100022|Abnormality of movement;HP:0001315|Reduced tendon reflexes;HP:0001511|Intrauterine growth retardation;HP:0001252|Muscular hypotonia;HP:0004374|Hemiplegia/hemiparesis;HP:0001004|Lymphedema;HP:0000384|Preauricular skin tag;HP:0001561|Polyhydramnios
growth delay due to insulin-like growth factor i resistance	HP:0000767|Funnel chest;HP:0004325|Low body weight;HP:0004322|Short stature;HP:0009466|Radially deviated phalanges;HP:0000233|Thin vermilion border;HP:0000343|Vertical hyperplasia of philtrum;HP:0000232|Everted lower lip vermilion;HP:0000767|Pectus excavatum;HP:0000455|Broad nasal tip;HP:0004322|Stature below 3rd percentile;HP:0001270|Motor delay;HP:0030084|Clinodactyly;HP:0001511|Intrauterine growth retardation;HP:0004279|Short palm;HP:0001270|Motor retardation;HP:0000739|Anxiety;HP:0001510|Growth delay;HP:0000713|Agitation;HP:0000750|Late-onset speech development;HP:0001999|Facial dysmorphism;HP:0000252|Small head circumference;HP:0001547|Abnormality of the rib cage;HP:0000252|Microcephaly;HP:0002750|Delayed bone maturation;HP:0000319|Smooth philtrum;HP:0000431|Broad nasal root;HP:0000431|Wide nasal bridge;HP:0001511|Prenatal onset growth retardation;HP:0001249|Intellectual disability;HP:0006610|Wide intermamillary distance;HP:0000219|Decreased height of upper lip vermilion;HP:0002750|Delayed skeletal maturation;HP:0030269|Increased serum insulin-like growth factor 1
episodic ataxia type 4	HP:0001257|Spasticity;HP:0002321|Vertigo;HP:0000640|Gaze-evoked nystagmus;HP:0002018|Nausea;HP:0000617|Abnormal smooth pursuits;HP:0000651|Diplopia;HP:0002131|Intermittent cerebellar ataxia;HP:0000360|Ringing in the ears
oas	HP:0002644|Abnormal shape of pelvic girdle bone;HP:0008843|Hip osteoarthritis
parietal foramina	HP:0001250|Seizures;HP:0007385|Scalp aplasia cutis congenita;HP:0002084|Bifid skull;HP:0002315|Headaches;HP:0000204|Cleft upper lip;HP:0002697|Parietal foramina;HP:0002695|Symmetrical, oval parietal bone defects;HP:0000175|Palatoschisis
brittle diabetes mellitus	HP:0001993|Ketoacidosis;HP:0000103|Polyuria;HP:0000819|Diabetes mellitus;HP:0002715|Abnormality of the immune system;HP:0002591|Voracious appetite;HP:0003074|High blood glucose;HP:0001959|Polydipsia
chromosome 22q11.2 deletion syndrome, distal	HP:0000307|Small pointed chin;HP:0000272|Depressed malar region;HP:0000219|Decreased height of upper lip vermilion;HP:0001263|Developmental retardation;HP:0004322|Stature below 3rd percentile;HP:0002553|Highly arched eyebrow;HP:0000490|Sunken eyes;HP:0000319|Smooth philtrum;HP:0001660|Common arterial trunk;HP:0000708|Behavioral problems;HP:0000175|Palatoschisis;HP:0001511|Prenatal onset growth retardation;HP:0000430|Nasal cartilage hypoplasia
palmoplantar keratoderma, nonepidermolytic	HP:0007404|Nonepidermolytic palmoplantar keratoderma
xeroderma pigmentosum, group a	HP:0000992|Skin photosensitivity;HP:0001257|Spasticity;HP:0004334|Atrophic skin;HP:0000252|Small head circumference;HP:0001251|Ataxia;HP:0001029|Poikiloderma;HP:0000656|Ectropion;HP:0001265|Decreased tendon reflexes;HP:0001268|Mental deterioration;HP:0000621|Eyelid turned in;HP:0001009|Telangiectases;HP:0000509|Conjunctivitis;HP:0001266|Choreoathetosis;HP:0000407|sensorineural hearing loss;HP:0003079|Defective DNA repair after ultraviolet radiation damage;HP:0000491|Corneal inflammation;HP:0000613|Extreme light sensitivity;HP:0001249|Mental retardation
xeroderma pigmentosum, group d	HP:0000992|Skin photosensitivity;HP:0001257|Spasticity;HP:0004334|Atrophic skin;HP:0000252|Small head circumference;HP:0001251|Ataxia;HP:0001029|Poikiloderma;HP:0000656|Ectropion;HP:0001265|Decreased tendon reflexes;HP:0001268|Mental deterioration;HP:0000621|Eyelid turned in;HP:0001009|Telangiectases;HP:0000509|Conjunctivitis;HP:0001266|Choreoathetosis;HP:0000407|sensorineural hearing loss;HP:0003079|Defective DNA repair after ultraviolet radiation damage;HP:0000491|Corneal inflammation;HP:0000613|Extreme light sensitivity;HP:0001249|Mental retardation
hypophosphatasia, adult	HP:0002748|Rickets;HP:0001760|Foot deformities;HP:0006357|Early loss of secondary dentition;HP:0000670|Dental caries;HP:0000934|Chondrocalcinosis;HP:0006323|Premature loss of baby teeth;HP:0002757|Multiple fractures;HP:0002756|Pathologic fracture;HP:0003282|Decreased serum alkaline phosphatase;HP:0002749|Osteomalacia
hypophosphatasia, childhood	HP:0003198|Myopathic changes;HP:0000520|Anterior bulging of the globe of eye;HP:0001250|Seizures;HP:0002515|Waddling gait;HP:0004322|Stature below 3rd percentile;HP:0003239|Phosphoethanolaminuria;HP:0001024|Skin dimple over apex of long bone angulation;HP:0000670|Dental caries;HP:0011864|Elevated plasma pyrophosphate;HP:0000897|Rachitic rosary;HP:0003491|Elevated urine pyrophosphate;HP:0006323|Premature loss of baby teeth;HP:0001363|Early fusion of cranial sutures;HP:0003282|Decreased serum alkaline phosphatase;HP:0002007|Frontal protruberance;HP:0002979|Bowing of the legs;HP:0000268|Dolichocephaly
carnitine palmitoyltransferase ii deficiency, late-onset	HP:0000083|Renal insufficiency;HP:0003201|Rhabdomyolysis;HP:0003552|Muscle stiffness;HP:0001324|Muscular weakness;HP:0003394|Muscle cramps;HP:0002913|Myoglobinuria;HP:0003326|Muscle pain
carnitine palmitoyltransferase ii deficiency, infantile	HP:0001250|Seizures;HP:0002240|Enlarged liver;HP:0001403|Macrovesicular steatosis;HP:0003236|Elevated creatine kinase;HP:0001254|Lethargy;HP:0001987|Hyperammonemia;HP:0005943|Respiratory arrest;HP:0001640|Increased heart size;HP:0002910|Elevated transaminases;HP:0002013|Emesis;HP:0001985|Hypoglycemia, hypoketotic;HP:0001644|Congestive cardiomyopathy
amaurosis congenita, cone-rod type, with congenital hypertrichosis	HP:0000556|Retinal dystrophy;HP:0001007|Hirsutism;HP:0000574|Thick eyebrow;HP:0000613|Extreme light sensitivity;HP:0007758|Visual impairment since birth;HP:0000664|Unibrow
syndactyly, mesoaxial synostotic, with phalangeal reduction	HP:0009568|Absent/hypoplastic middle phalanx of 2nd finger;HP:0000954|Simian creases;HP:0004209|Clinodactyly of fifth digit;HP:0006097|Webbed 3rd-4th fingers;HP:0008362|Aplasia/Hypoplasia of the hallux;HP:0009161|Absent/underdeveloped middle bone of pinky finger;HP:0009177|Proximal 5th finger symphalangism;HP:0009601|Absent/hypoplastic thumb;HP:0010064|Fused bit toe bones
mental retardation, x-linked, syndromic 13	HP:0002307|Sialorrhea;HP:0000347|Hypoplasia of mandible;HP:0001266|Choreoathetosis;HP:0001300|Parkinsonism;HP:0000470|Decreased cervical height;HP:0001251|Ataxia;HP:0002064|Spastic gait;HP:0000164|Abnormality of the teeth;HP:0003763|Bruxism;HP:0000750|Late-onset speech development;HP:0001250|Seizures;HP:0000252|Small head circumference;HP:0001263|Developmental retardation;HP:0002362|Shuffling gait;HP:0000400|Large ears;HP:0000218|Increased palatal height;HP:0002353|Abnormal EEG;HP:0000709|Psychosis;HP:0001761|Pes cavus;HP:0000053|Macroorchidism;HP:0003781|Oversalivation;HP:0001347|Hyperreflexia;HP:0001337|Tremor;HP:0003487|Extensor plantar reflexes;HP:0001256|Mild mental retardation;HP:0000297|Reduced facial muscle tone
bile acid synthesis defect, congenital, 2	HP:0002570|Steatorrhea;HP:0000952|Yellow skin;HP:0001744|Splenomegaly;HP:0002904|High blood bilirubin levels;HP:0001406|Intrahepatic cholestasis;HP:0003256|Coagulopathy;HP:0002240|Enlarged liver;HP:0002014|Diarrhea;HP:0003155|Hyperphosphatasia;HP:0001399|Liver failure;HP:0001508|Weight faltering;HP:0002910|Elevated transaminases
tukel syndrome	HP:0004231|Aplastic carpal bone;HP:0001159|Webbed fingers or toes;HP:0007936|Restrictive external ophthalmoplegia;HP:0009702|Fused carpal bones;HP:0001491|Congenital fibrosis of the extraocular muscles;HP:0000508|Drooping upper eyelid;HP:0007831|Nonprogressive restrictive external ophthalmoplegia;HP:0006210|Postaxial oligodactyly;HP:0001477|Compensatory chin elevation
congenital heart defects, hamartomas of tongue, and polysyndactyly	HP:0001233|Syndactyly 2nd-3rd fingers;HP:0001680|Coarctation of aorta;HP:0001682|Subvalvular aortic stenosis;HP:0001674|Complete atrioventricular septal defect;HP:0000316|Increased distance between eye sockets;HP:0010055|Abnormally broad great toes;HP:0011802|Hamartoma of tongue;HP:0001162|Postaxial polydactyly of fingers
dyssegmental dysplasia, silverman-handmaker type	HP:0008873|Disproportionate short-limb short stature;HP:0001631|Atrial septal defect;HP:0000175|Cleft palate;HP:0000347|Micrognathia;HP:0006487|Bowing of the long bones;HP:0000457|Depressed nasal ridge;HP:0002093|Respiratory insufficiency;HP:0001537|Umbilical hernia;HP:0001387|Joint stiffness;HP:0000592|Blue sclerae;HP:0000774|Narrow chest;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0000023|Inguinal hernia;HP:0000944|Abnormality of the metaphyses;HP:0002983|Micromelia;HP:0002879|Anisospondyly
diabetes mellitus, transient neonatal, 1	HP:0008255|Transient neonatal diabetes mellitus;HP:0001511|Prenatal onset growth retardation;HP:0003074|High blood glucose;HP:0001944|Dehydration;HP:0001525|Marked failure to thrive
muscular dystrophy, limb-girdle, type 2h	HP:0002515|Waddling gait;HP:0003707|Calf muscle pseudohypertrophy;HP:0003724|Shoulder-girdle muscle atrophy;HP:0003738|Muscle pain on exercise;HP:0003236|Elevated creatine kinase;HP:0003557|Increased fiber size variation;HP:0001265|Decreased tendon reflexes;HP:0003391|Gower sign;HP:0001284|Areflexia;HP:0010628|Facial palsy, unilateral or bilateral;HP:0008988|Pelvic girdle muscle atrophy;HP:0003749|Hip girdle muscle weakness;HP:0003547|Muscle weakness, shoulder-girdle;HP:0003458|EMG: myopathic abnormalities;HP:0003731|Quadriceps weakness;HP:0003722|Neck flexor muscle weakness;HP:0003560|Muscular dystrophy;HP:0003687|Central nuclei
congenital disorder of glycosylation, type iia	HP:0007466|Midfrontal capillary hemangioma;HP:0000938|Decreased bone mineral density;HP:0000767|Funnel chest;HP:0000233|Decreased volume of lip vermillion;HP:0000256|Macrocrania;HP:0000248|Brachycephaly;HP:0000527|Long eyelashes;HP:0000194|Slack jawed appearance;HP:0001290|Generalized hypotonia;HP:0004841|Factor XII deficiency;HP:0001629|Ventricular septal defects;HP:0000699|Diastasis of the teeth;HP:0001929|Reduced factor XI activity;HP:0000470|Decreased cervical height;HP:0000733|Repetitive movements;HP:0004322|Stature below 3rd percentile;HP:0008897|Growth retardation as children;HP:0010808|Lingual prolapse;HP:0010864|Early and severe mental retardation;HP:0000426|Protruding bridge of nose;HP:0000574|Thick eyebrow;HP:0009765|Extension of the columella below the ala nasi;HP:0000232|Everted prominent lower lip;HP:0006887|Progressive mental retardation;HP:0000358|Ear, posterior angulation, increased;HP:0001250|Seizures;HP:0011858|Reduced factor IX activity;HP:0000252|Small head circumference;HP:0001547|Abnormality of the rib cage;HP:0003423|Thoracolumbar kyphoscoliosis;HP:0001976|Reduced antithrombin III activity;HP:0000400|Large ears;HP:0000154|Large mouth;HP:0012301|Type 2 transferrin isoform profile;HP:0001508|Weight faltering;HP:0002317|Unsteady walk;HP:0001572|Macrodontia;HP:0003100|Slender long bone;HP:0008070|Thinned hair;HP:0000742|Self-mutilation;HP:0001007|Hirsutism;HP:0000407|sensorineural hearing loss;HP:0009623|Proximally placed thumbs;HP:0001763|Pes planus;HP:0000494|Downward slanting palpebral fissures;HP:0000212|Gingival overgrowth;HP:0000278|Receding lower jaw;HP:0002673|Coxa valga;HP:0000718|Aggressive behaviour
pyogenic arthritis, pyoderma gangrenosum and acne	HP:0001369|Arthritis;HP:0001061|Acne;HP:0000999|Pyoderma
dystonia, juvenile-onset	HP:0002571|Achalasia;HP:0002751|Kyphoscoliosis;HP:0000348|High forehead;HP:0000518|Cataract;HP:0001518|Small for gestational age;HP:0007325|Generalized dystonia;HP:0011342|Mild global developmental delay;HP:0008796|Externally rotated hips;HP:0000204|Cleft upper lip;HP:0000407|sensorineural hearing loss;HP:0001256|Mild mental retardation;HP:0000882|Hypoplastic scapula;HP:0000175|Palatoschisis
spondylometaphyseal dysplasia, 'corner fracture' type	HP:0002515|Waddling gait;HP:0002657|Spondylometaphyseal dysplasia;HP:0003502|Mild short stature;HP:0002812|Coxa vara;HP:0100864|Short femoral necks;HP:0004322|Stature below 3rd percentile;HP:0003300|Ovoid vertebral bodies;HP:0003025|Metaphyseal irregularity;HP:0003307|Hyperlordosis;HP:0002650|Scoliosis;HP:0002757|Recurrent fractures;HP:0003311|Odontoid hypoplasia;HP:0003025|Frayed, irregular metaphyses;HP:0003019|Abnormality of the wrist;HP:0001763|Pes planus;HP:0001636|Tetralogy of Fallot;HP:0002808|Kyphosis;HP:0002857|Genu valgum;HP:0003311|Hypoplasia of the odontoid process;HP:0004603|Hyperconvex vertebral body endplates;HP:0002983|Micromelia
ceroid lipofuscinosis, neuronal, 8	HP:0000750|Late-onset speech development;HP:0001250|Seizures;HP:0002059|Degeneration of cerebrum;HP:0001251|Ataxia;HP:0000529|Slowly progressive visual loss;HP:0002074|Increased neuronal autofluorescent lipopigment;HP:0001272|Cerebellar atrophy;HP:0002353|Abnormal EEG;HP:0002376|Loss of developmental milestones;HP:0003205|'curvilinear profiles' ultrastructurally;HP:0001336|Myoclonic jerks
crigler-najjar syndrome, type ii	HP:0008282|Unconjugated hyperbilirubinemia;HP:0000952|Yellow skin
amyloidosis, familial visceral	HP:0001744|Splenomegaly;HP:0002240|Enlarged liver;HP:0000988|Exanthem;HP:0001396|Cholestasis;HP:0000822|Hypertension;HP:0000112|Nephropathy;HP:0000100|Nephrosis;HP:0000969|Dropsy;HP:0000790|Hematuria;HP:0003216|Generalized amyloid deposition;HP:0000093|Proteinuria
chromosome 1q21.1 deletion syndrome	HP:0000717|Autism;HP:0001249|Mental retardation;HP:0000252|Small head circumference;HP:0100753|Schizophrenia;HP:0001680|Coarctation of aorta;HP:0001643|Persistent ductus arteriosus;HP:0001669|Transposition of the great arteries;HP:0000490|Sunken eyes;HP:0001660|Common arterial trunk;HP:0010055|Abnormally broad great toes;HP:0002007|Frontal protruberance;HP:0000414|Bulbous nose;HP:0011304|Wide/broad thumb
epileptic encephalopathy, early infantile, 9	HP:0007359|Partial seizures;HP:0002121|Petit mal seizures;HP:0002133|Status epilepticus;HP:0001263|Developmental retardation;HP:0002123|Myoclonus seizures;HP:0000709|Psychosis;HP:0010819|drop attacks;HP:0002069|Generalized tonic clonic seizures;HP:0001249|Mental retardation;HP:0000718|Aggressive behaviour
thrombocytopenia, x-linked	HP:0005261|Joint hemorrhage;HP:0004854|Intermittent thrombocytopenia;HP:0000967|Petechiae;HP:0003011|Abnormality of the musculature;HP:0003212|Elevated serum IgE;HP:0005537|Small platelet size;HP:0003261|Elevated IgA;HP:0000964|Eczema;HP:0001905|thrombocytopenia, congenital;HP:0000978|Bruisability;HP:0000421|Bloody nose
waardenburg syndrome, type 1	HP:0000581|Blepharophimosis;HP:0002946|Supernumerary vertebrae;HP:0000316|Increased distance between eye sockets;HP:0000202|Oral clefting;HP:0003250|Aplasia of the vagina;HP:0002216|Premature hair graying;HP:0000430|Nasal cartilage hypoplasia;HP:0000664|Unibrow;HP:0007990|Underdeveloped iris stroma;HP:0005815|Supernumerary ribs;HP:0002227|Pale eyelashes;HP:0000574|Thick eyebrow;HP:0001100|Heterochromia irides;HP:0002211|Poliosis of forelock hair;HP:0000912|High scapula;HP:0007894|Retinal depigmentation;HP:0000319|Smooth philtrum;HP:0002475|Myelomeningocele;HP:0000431|Broad nasal root;HP:0000303|Increased size of lower jaw;HP:0002226|Pale eyebrow;HP:0008527|Hearing loss, congenital sensorineural;HP:0007443|Partial absent skin pigmentation
corneal dystrophy, epithelial basement membrane	HP:0001131|Corneal dystrophy;HP:0000495|Recurrent corneal erosions;HP:0007690|Map-dot-fingerprint corneal dystrophy
classic phenylketonuria	HP:0001263|Global developmental delay;HP:0010864|Intellectual disability, severe;HP:0100716|Self-injurious behavior;HP:0000518|Cataract;HP:0001268|Mental deterioration;HP:0004923|Hyperphenylalaninemia;HP:0002354|Memory impairment;HP:0010550|Paraplegia;HP:0002017|Nausea and vomiting;HP:0001010|Hypopigmentation of the skin;HP:0001276|Hypertonia;HP:0001510|Growth delay;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0002301|Hemiplegia;HP:0005599|Hypopigmentation of hair;HP:0000252|Microcephaly;HP:0002514|Cerebral calcification;HP:0007018|Attention deficit hyperactivity disorder;HP:0000717|Autism;HP:0002333|Motor deterioration;HP:0001347|Hyperreflexia;HP:0001337|Tremor;HP:0100679|Lack of skin elasticity;HP:0000716|Depression;HP:0000964|Eczema
autosomal recessive stickler syndrome	HP:0000175|Cleft palate;HP:0000347|Micrognathia;HP:0002857|Genu valgum;HP:0012368|Flat face;HP:0000518|Cataract;HP:0000646|Amblyopia;HP:0004322|Short stature;HP:0000541|Retinal detachment;HP:0000545|Myopia;HP:0000655|Vitreoretinal degeneration;HP:0002656|Epiphyseal dysplasia;HP:0005692|Joint hyperflexibility;HP:0000483|Astigmatism;HP:0005930|Abnormality of epiphysis morphology;HP:0000272|Malar flattening;HP:0000926|Platyspondyly;HP:0000407|Sensorineural hearing impairment;HP:0003301|Irregular vertebral endplates
mpdu1-cdg	HP:0001250|Seizures;HP:0000504|Abnormality of vision;HP:0100543|Cognitive impairment;HP:0001252|Muscular hypotonia;HP:0000478|Abnormality of the eye
riboflavin transporter deficiency	HP:0001336|Myoclonus;HP:0000496|Abnormality of eye movement;HP:0000543|Optic disc pallor;HP:0002015|Dysphagia;HP:0000873|Diabetes insipidus;HP:0001283|Bulbar palsy;HP:0010628|Facial palsy;HP:0000508|Ptosis;HP:0001260|Dysarthria;HP:0000135|Hypogonadism;HP:0001251|Ataxia;HP:0001291|Abnormality of the cranial nerves;HP:0007730|Iris hypopigmentation;HP:0000822|Hypertension;HP:0001265|Hyporeflexia;HP:0002120|Cerebral cortical atrophy;HP:0000718|Aggressive behavior;HP:0001250|Seizures;HP:0003690|Limb muscle weakness;HP:0000771|Gynecomastia;HP:0002093|Respiratory insufficiency;HP:0000551|Abnormality of color vision;HP:0008002|Abnormality of macular pigmentation;HP:0001249|Intellectual disability;HP:0002459|Dysautonomia;HP:0004326|Cachexia;HP:0000505|Visual impairment;HP:0001324|Muscle weakness;HP:0001337|Tremor;HP:0001730|Progressive hearing impairment;HP:0000738|Hallucinations;HP:0010535|Sleep apnea;HP:0006824|Cranial nerve paralysis;HP:0001252|Muscular hypotonia;HP:0003202|Skeletal muscle atrophy
adult-onset foveomacular vitelliform dystrophy	HP:0007677|Vitelliform maculopathy;HP:0000504|Abnormality of vision;HP:0000505|Visual impairment;HP:0001123|Visual field defect;HP:0007899|Retinal nonattachment;HP:0000551|Abnormality of color vision;HP:0007730|Iris hypopigmentation;HP:0001139|Choroideremia;HP:0000478|Abnormality of the eye
familial or sporadic hemiplegic migraine	HP:0000639|Nystagmus;HP:0002353|EEG abnormality;HP:0001251|Ataxia;HP:0004374|Hemiplegia/hemiparesis;HP:0002357|Dysphasia;HP:0002167|Neurological speech impairment;HP:0000580|Pigmentary retinopathy;HP:0100022|Abnormality of movement;HP:0000407|Sensorineural hearing impairment;HP:0007703|Abnormality of retinal pigmentation
thanatophoric dysplasia type 2	HP:0000520|Proptosis;HP:0100543|Cognitive impairment;HP:0004322|Short stature;HP:0002119|Ventriculomegaly;HP:0000365|Hearing impairment;HP:0001360|Holoprosencephaly;HP:0000238|Hydrocephalus;HP:0005280|Depressed nasal bridge;HP:0001376|Limitation of joint mobility;HP:0001631|Atrial septal defect;HP:0010306|Short thorax;HP:0001156|Brachydactyly syndrome;HP:0002269|Abnormality of neuronal migration;HP:0002652|Skeletal dysplasia;HP:0002007|Frontal bossing;HP:0002676|Cloverleaf skull;HP:0012368|Flat face;HP:0005692|Joint hyperflexibility;HP:0001643|Patent ductus arteriosus;HP:0000774|Narrow chest;HP:0001250|Seizures;HP:0002093|Respiratory insufficiency;HP:0000256|Macrocephaly;HP:0000077|Abnormality of the kidney;HP:0002808|Kyphosis;HP:0000926|Platyspondyly;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0010880|Increased nuchal translucency;HP:0001582|Redundant skin;HP:0002084|Encephalocele;HP:0001252|Muscular hypotonia;HP:0000956|Acanthosis nigricans;HP:0000944|Abnormality of the metaphyses;HP:0002983|Micromelia;HP:0001561|Polyhydramnios
pfeiffer syndrome type 3	HP:0011800|Midface retrusion;HP:0000520|Proptosis;HP:0002023|Anal atresia;HP:0000646|Amblyopia;HP:0003196|Short nose;HP:0000402|Stenosis of the external auditory canal;HP:0001601|Laryngomalacia;HP:0000365|Hearing impairment;HP:0000453|Choanal atresia;HP:0001770|Toe syndactyly;HP:0000218|High palate;HP:0005280|Depressed nasal bridge;HP:0001376|Limitation of joint mobility;HP:0002098|Respiratory distress;HP:0006101|Finger syndactyly;HP:0010109|Short hallux;HP:0000126|Hydronephrosis;HP:0000369|Low-set ears;HP:0000316|Hypertelorism;HP:0002516|Increased intracranial pressure;HP:0002308|Arnold-Chiari malformation;HP:0000076|Vesicoureteral reflux;HP:0001773|Short foot;HP:0002779|Tracheomalacia;HP:0008080|Hallux varus;HP:0001250|Seizures;HP:0000175|Cleft palate;HP:0000244|Brachyturricephaly;HP:0010059|Broad hallux phalanx;HP:0200055|Small hand;HP:0000085|Horseshoe kidney;HP:0001249|Intellectual disability;HP:0000348|High forehead;HP:0002410|Aqueductal stenosis;HP:0011304|Broad thumb;HP:0002566|Intestinal malrotation
alg12-cdg	HP:0100543|Cognitive impairment;HP:0000078|Abnormality of the genital system;HP:0001252|Muscular hypotonia;HP:0010978|Abnormality of immune system physiology
autosomal recessive cutis laxa type 1	HP:0004942|Aortic aneurysm;HP:0001166|Arachnodactyly;HP:0007495|Prematurely aged appearance;HP:0002645|Wormian bones;HP:0002098|Respiratory distress;HP:0000010|Recurrent urinary tract infections;HP:0000508|Ptosis;HP:0100545|Arterial stenosis;HP:0001635|Congestive heart failure;HP:0005222|Bowel diverticulosis;HP:0000973|Cutis laxa;HP:0002097|Emphysema;HP:0000270|Delayed cranial suture closure;HP:0005692|Joint hyperflexibility;HP:0000015|Bladder diverticulum;HP:0002617|Aneurysm;HP:0001642|Pulmonic stenosis;HP:0000076|Vesicoureteral reflux;HP:0100678|Premature skin wrinkling;HP:0100750|Atelectasis;HP:0100877|Renal diverticulum;HP:0000293|Full cheeks;HP:0002757|Recurrent fractures;HP:0011675|Arrhythmia;HP:0000939|Osteoporosis;HP:0000023|Inguinal hernia;HP:0002595|Ileus;HP:0001582|Redundant skin;HP:0005313|Arterial fibromuscular dysplasia;HP:0100790|Hernia;HP:0000821|Hypothyroidism;HP:0000776|Congenital diaphragmatic hernia
systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease	HP:0012539|Non-Hodgkin lymphoma;HP:0002863|Myelodysplasia;HP:0005506|Chronic myelogenous leukemia;HP:0004808|Acute myeloid leukemia;HP:0100495|Mastocytosis;HP:0001880|Eosinophilia;HP:0012325|Chronic myelomonocytic leukemia
17q12 microdeletion syndrome	HP:0000028|Cryptorchidism;HP:0000717|Autism;HP:0001250|Seizures;HP:0001263|Global developmental delay;HP:0000003|Multicystic kidney dysplasia;HP:0002059|Cerebral atrophy;HP:0002910|Elevated hepatic transaminases;HP:0008678|Renal hypoplasia/aplasia;HP:0000239|Large fontanelles;HP:0004322|Short stature;HP:0000819|Diabetes mellitus;HP:0000365|Hearing impairment;HP:0001562|Oligohydramnios;HP:0001249|Intellectual disability;HP:0011968|Feeding difficulties;HP:0000049|Shawl scrotum;HP:0012157|Subcortical cerebral atrophy;HP:0000070|Ureterocele;HP:0002463|Language impairment;HP:0100801|Pancreatic aplasia;HP:0000083|Renal insufficiency
cog7-cdg	HP:0001639|Hypertrophic cardiomyopathy;HP:0001252|Muscular hypotonia;HP:0010978|Abnormality of immune system physiology
alg8-cdg	HP:0001399|Hepatic failure;HP:0000518|Cataract;HP:0001004|Lymphedema;HP:0000091|Abnormality of the renal tubule
peripheral resistance to thyroid hormones	HP:0003270|Abdominal distention;HP:0000239|Large fontanelles;HP:0001537|Umbilical hernia;HP:0002019|Constipation;HP:0000158|Macroglossia;HP:0000280|Coarse facial features;HP:0001252|Muscular hypotonia;HP:0000952|Jaundice;HP:0000821|Hypothyroidism;HP:0002360|Sleep disturbance;HP:0011968|Feeding difficulties;HP:0000271|Abnormality of the face
pfeiffer syndrome type 1	HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0000520|Proptosis;HP:0011800|Midface retrusion;HP:0006101|Finger syndactyly;HP:0010109|Short hallux;HP:0000348|High forehead;HP:0000369|Low-set ears;HP:0003196|Short nose;HP:0002410|Aqueductal stenosis;HP:0005280|Depressed nasal bridge;HP:0011304|Broad thumb;HP:0000316|Hypertelorism;HP:0000365|Hearing impairment;HP:0000248|Brachycephaly;HP:0001770|Toe syndactyly;HP:0008080|Hallux varus;HP:0000218|High palate;HP:0004279|Short palm;HP:0011318|Bicoronal synostosis;HP:0010059|Broad hallux phalanx;HP:0001773|Short foot
metaphyseal acroscyphodysplasia	HP:0010049|Metacarpal hypoplasia;HP:0006487|Bowing of the long bones;HP:0006059|Cone-shaped metacarpal epiphyses;HP:0010230|Cone-shaped epiphyses of the phalanges of the hand;HP:0000463|Nostrils anteverted;HP:0011800|Midface, flat;HP:0001363|Early fusion of cranial sutures;HP:0001373|Joint dislocation;HP:0001156|Brachydactyly syndrome;HP:0002684|Thickened calvarium;HP:0000286|Palpebronasal fold;HP:0002970|Genu varum;HP:0012368|Flat face;HP:0000506|Telecanthus;HP:0002007|Frontal bossing;HP:0001831|Short toes;HP:0004279|Hypoplastic hands;HP:0000316|Hypertelorism;HP:0003510|Proportionate dwarfism;HP:0002007|Frontal protruberance;HP:0002823|Abnormality of the femur;HP:0001249|Mental retardation;HP:0001831|Short toe;HP:0000286|Epicanthus;HP:0003016|Wide metaphyses;HP:0002982|Bowed tibia;HP:0000457|Depressed nasal ridge;HP:0009381|Hypoplastic fingers;HP:0002650|Scoliosis;HP:0003311|Odontoid hypoplasia;HP:0005616|Early bone maturation;HP:0000940|Abnormal diaphysis morphology;HP:0000431|Broad nasal root;HP:0000431|Wide nasal bridge;HP:0000926|Flattened vertebral bodies;HP:0005616|Accelerated skeletal maturation;HP:0004586|Fish vertebrae;HP:0001249|Intellectual disability;HP:0000272|Depressed malar region;HP:0009803|Hypoplastic/small phalanges of the hand;HP:0003510|Severe short stature;HP:0006205|Irregular finger bones;HP:0003275|Narrow pelvis bone;HP:0003021|Metaphyseal cupping;HP:0005792|Short upper arms;HP:0010579|Cone-shaped epiphysis;HP:0011220|Prominent forehead;HP:0000944|Abnormality of the metaphyses;HP:0002983|Micromelia;HP:0002673|Coxa valga
progressive nodular histiocytosis	HP:0200034|Papule;HP:0001482|Subcutaneous nodule;HP:0004326|Cachexia;HP:0001945|Fever
ring chromosome 6	HP:0002162|Low posterior hairline;HP:0000286|Epicanthus;HP:0000470|Short neck;HP:0002093|Respiratory insufficiency;HP:0004322|Short stature;HP:0000252|Microcephaly;HP:0000316|Hypertelorism;HP:0000400|Macrotia;HP:0000431|Wide nasal bridge;HP:0100589|Urogenital fistula;HP:0009882|Short distal phalanx of finger
thoracomelic dysplasia	HP:0001591|Narrow, bell-shaped thorax;HP:0002162|Low posterior hairline;HP:0000773|Short ribs;HP:0000470|Short neck;HP:0008873|Disproportionate short-limb short stature;HP:0009826|Limb undergrowth;HP:0008873|Dwarfism, short-limbed;HP:0001288|Gait disturbance;HP:0001591|Bell-shaped thorax;HP:0012368|Flat face;HP:0000773|Rib hypoplasia;HP:0003307|Hyperlordosis;HP:0002991|Abnormality of the fibula;HP:0003042|Elbow dislocation;HP:0005692|Joint hyperflexibility;HP:0005019|Diaphyseal thickening;HP:0000774|Narrow chest;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0002857|Genu valgum;HP:0000311|Round face;HP:0000944|Abnormality of the metaphyses
femur-fibula-ulna complex	HP:0001171|Split hand;HP:0006101|Finger syndactyly;HP:0006501|Aplasia/Hypoplasia of the radius;HP:0005792|Short humerus;HP:0004322|Short stature;HP:0003041|Humeroradial synostosis;HP:0002823|Abnormality of the femur;HP:0002997|Abnormality of the ulna;HP:0009811|Abnormality of the elbow;HP:0002983|Micromelia
ulna metaphyseal dysplasia syndrome	HP:0003072|Hypercalcemia;HP:0000925|Abnormality of the vertebral column;HP:0003312|Abnormal form of the vertebral bodies;HP:0000691|Microdontia;HP:0006501|Aplasia/Hypoplasia of the radius;HP:0000457|Depressed nasal ridge;HP:0000787|Nephrolithiasis;HP:0002750|Delayed skeletal maturation;HP:0001163|Abnormality of the metacarpal bones;HP:0001608|Abnormality of the voice;HP:0002991|Abnormality of the fibula;HP:0002750|Delayed bone maturation;HP:0003272|Abnormality of the hip bone;HP:0004322|Short stature;HP:0000164|Abnormality of the teeth;HP:0006482|Abnormality of dental morphology;HP:0002997|Abnormality of the ulna;HP:0000944|Abnormality of the metaphyses;HP:0002673|Coxa valga
odontomicronychial dysplasia	HP:0006337|Premature eruption of adult teeth;HP:0001597|Abnormality of the nail;HP:0001816|Thin nail;HP:0008383|Slow-growing nails;HP:0006337|Premature eruption of permanent teeth;HP:0001799|Short nail;HP:0001799|Short nails;HP:0000164|Abnormality of the teeth;HP:0006323|Premature loss of primary teeth
pseudohypoparathyroidism type 1a	HP:0000639|Nystagmus;HP:0000585|Band keratopathy;HP:0000470|Short neck;HP:0008202|Prolactin deficiency;HP:0002094|Dyspnea;HP:0002135|Basal ganglia calcification;HP:0000815|Hypergonadotropic hypogonadism;HP:0000518|Cataract;HP:0011458|Abdominal symptom;HP:0004322|Short stature;HP:0003165|Elevated circulating parathyroid hormone level;HP:0006960|Choroid plexus calcification;HP:0012185|Constrictive median neuropathy;HP:0011986|Ectopic ossification;HP:0001266|Choreoathetosis;HP:0010044|Short 4th metacarpal;HP:0000824|Growth hormone deficiency;HP:0005280|Depressed nasal bridge;HP:0002176|Spinal cord compression;HP:0000852|Pseudohypoparathyroidism;HP:0000876|Oligomenorrhea;HP:0003456|Low urinary cyclic AMP response to PTH administration;HP:0001156|Brachydactyly syndrome;HP:0003401|Paresthesia;HP:0002591|Polyphagia;HP:0010027|Broad 1st metacarpal;HP:0012049|Laryngeal dystonia;HP:0001289|Confusion;HP:0000486|Strabismus;HP:0002684|Thickened calvaria;HP:0000822|Hypertension;HP:0009642|Broad distal phalanx of the thumb;HP:0003394|Muscle cramps;HP:0000684|Delayed eruption of teeth;HP:0001265|Hyporeflexia;HP:0000407|Sensorineural hearing impairment;HP:0000739|Anxiety;HP:0025027|Osteoma cutis;HP:0010049|Short metacarpal;HP:0006297|Hypoplasia of dental enamel;HP:0003528|Elevated calcitonin;HP:0011001|Increased bone mineral density;HP:0002905|Hyperphosphatemia;HP:0003472|Hypocalcemic tetany;HP:0002901|Hypocalcemia;HP:0001657|Prolonged QT interval;HP:0000293|Full cheeks;HP:0002514|Cerebral calcification;HP:0004305|Involuntary movements;HP:0004438|Hyperostosis frontalis interna;HP:0000311|Round face;HP:0030057|Autoimmune antibody positivity;HP:0008227|Pituitary resistance to thyroid hormone;HP:0001249|Intellectual disability;HP:0001513|Obesity;HP:0003761|Calcinosis;HP:0010041|Short 3rd metacarpal;HP:0100749|Chest pain;HP:0003739|Myoclonic spasms;HP:0000737|Irritability;HP:0002199|Hypocalcemic seizures;HP:0004704|Short fifth metatarsal;HP:0000509|Conjunctivitis;HP:0004349|Reduced bone mineral density;HP:0000716|Depression;HP:0010743|Short metatarsal;HP:0010047|Short 5th metacarpal;HP:0011869|Abnormal platelet function
monosomy 5p	HP:0010864|Intellectual disability, severe;HP:0000470|Short neck;HP:0004322|Short stature;HP:0000218|High palate;HP:0200046|Cat cry;HP:0006101|Finger syndactyly;HP:0002564|Malformation of the heart and great vessels;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0001511|Intrauterine growth retardation;HP:0011344|Severe global developmental delay;HP:0000384|Preauricular skin tag;HP:0004348|Abnormality of bone mineral density;HP:0000494|Downslanted palpebral fissures;HP:0000286|Epicanthus;HP:0001608|Abnormality of the voice;HP:0000252|Microcephaly;HP:0002650|Scoliosis;HP:0002757|Recurrent fractures;HP:0000431|Wide nasal bridge;HP:0000311|Round face;HP:0000023|Inguinal hernia;HP:0200055|Small hand;HP:0000308|Microretrognathia;HP:0000368|Low-set, posteriorly rotated ears;HP:0001620|High pitched voice;HP:0001252|Muscular hypotonia
localized lipodystrophy	HP:0004334|Dermal atrophy;HP:0007552|Abnormal subcutaneous fat tissue distribution;HP:0100324|Scleroderma;HP:0100578|Lipoatrophy
isolated scaphocephaly	HP:0000269|Prominent occiput;HP:0000268|Dolichocephaly;HP:0002516|Increased intracranial pressure;HP:0002007|Frontal bossing
combined hamartoma of the retina and retinal pigment epithelium	HP:0000579|Nasolacrimal duct obstruction;HP:0012795|Abnormality of the optic disc;HP:0000618|Blindness;HP:0000577|Exotropia;HP:0007773|Vitreoretinopathy;HP:0007663|Reduced visual acuity;HP:0012841|Retinal vascular tortuosity
dermoodontodysplasia	HP:0002552|Trichodysplasia;HP:0000968|Ectodermal dysplasia;HP:0002164|Nail dysplasia;HP:0000164|Abnormality of the teeth
46,xy partial gonadal dysgenesis	HP:0000028|Cryptorchidism;HP:0000786|Primary amenorrhea;HP:0000815|Hypergonadotropic hypogonadism;HP:0000027|Azoospermia;HP:0008734|Decreased testicular size;HP:0000030|Testicular gonadoblastoma;HP:0008730|Female external genitalia in individual with 46,XY karyotype;HP:0012244|Abnormal sex determination;HP:0002225|Sparse pubic hair;HP:0000150|Gonadoblastoma;HP:0008736|Hypoplasia of penis;HP:0000058|Abnormality of the labia;HP:0000047|Hypospadias;HP:0002564|Malformation of the heart and great vessels;HP:0010464|Streak ovary;HP:0002215|Sparse axillary hair;HP:0000837|Increased circulating gonadotropin level;HP:0000149|Ovarian gonadoblastoma;HP:0011969|Elevated luteinizing hormone;HP:0000812|Abnormal internal genitalia;HP:0000062|Ambiguous genitalia;HP:0012870|Vanishing testis;HP:0000045|Abnormality of the scrotum;HP:0000771|Gynecomastia;HP:0002667|Nephroblastoma;HP:0008230|Decreased testosterone in males;HP:0000868|Decreased fertility in females;HP:0000057|Clitoromegaly;HP:0000939|Osteoporosis;HP:0008187|Absence of secondary sex characteristics;HP:0000846|Adrenal insufficiency;HP:0003251|Male infertility;HP:0000823|Delayed puberty;HP:0000133|Gonadal dysgenesis;HP:0000142|Abnormality of the vagina;HP:0008726|Hypoplasia of the vagina;HP:0002750|Delayed skeletal maturation;HP:0008193|Primary gonadal insufficiency;HP:0100779|Urogenital sinus anomaly;HP:0000100|Nephrotic syndrome;HP:0008214|Decreased serum estradiol;HP:0000054|Micropenis;HP:0008232|Elevated follicle stimulating hormone
infantile digital fibromatosis	HP:0200036|Skin nodule
generalized eruptive histiocytosis	HP:0200034|Papule
hughes-stovin syndrome	HP:0002204|Pulmonary embolism;HP:0002094|Dyspnea;HP:0002633|Vasculitis;HP:0010741|Edema of the lower limbs;HP:0100576|Amaurosis fugax;HP:0004936|Venous thrombosis;HP:0012378|Fatigue;HP:0012735|Cough;HP:0100749|Chest pain;HP:0002516|Increased intracranial pressure;HP:0002017|Nausea and vomiting;HP:0001945|Fever;HP:0006543|Cardiorespiratory arrest;HP:0002092|Pulmonary arterial hypertension;HP:0002105|Hemoptysis;HP:0004937|Pulmonary artery aneurysm;HP:0002315|Headache;HP:0100545|Arterial stenosis
ring chromosome 1	HP:0000506|Telecanthus;HP:0100543|Cognitive impairment;HP:0000463|Anteverted nares;HP:0000252|Microcephaly;HP:0010720|Abnormal hair pattern;HP:0000343|Long philtrum;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0000311|Round face;HP:0002714|Downturned corners of mouth;HP:0000508|Ptosis;HP:0008872|Feeding difficulties in infancy;HP:0000494|Downslanted palpebral fissures
pelvis syndrome	HP:0000075|Renal duplication;HP:0000028|Cryptorchidism;HP:0000047|Hypospadias;HP:0004397|Ectopic anus;HP:0002023|Anal atresia;HP:0000076|Vesicoureteral reflux;HP:0002475|Myelomeningocele;HP:0000104|Renal agenesis;HP:0002836|Bladder exstrophy;HP:0000062|Ambiguous genitalia;HP:0000136|Bifid uterus;HP:0000059|Hypoplastic labia majora;HP:0000054|Micropenis;HP:0002414|Spina bifida;HP:0000048|Bifid scrotum;HP:0001028|Hemangioma;HP:0010609|Skin tags
chromosome xp11.3 deletion syndrome	HP:0004322|Stature below 3rd percentile;HP:0000505|Poor vision;HP:0000252|Small head circumference;HP:0000510|Retinitis pigmentosa;HP:0000662|Poor night vision;HP:0001249|Mental retardation
pilotto syndrome	HP:0002162|Low posterior hairline;HP:0000470|Short neck;HP:0000324|Facial asymmetry;HP:0000175|Cleft palate;HP:0000567|Chorioretinal coloboma;HP:0000369|Low-set ears;HP:0002564|Malformation of the heart and great vessels;HP:0000364|Hearing abnormality;HP:0000252|Microcephaly;HP:0002650|Scoliosis;HP:0000316|Hypertelorism;HP:0000830|Anterior hypopituitarism;HP:0004322|Short stature;HP:0008056|Aplasia/Hypoplasia affecting the eye;HP:0002648|Abnormality of calvarial morphology;HP:0005105|Abnormal nasal morphology;HP:0000772|Abnormality of the ribs;HP:0000767|Pectus excavatum;HP:0100335|Non-midline cleft lip;HP:0000534|Abnormality of the eyebrow;HP:0001249|Intellectual disability
foix-chavany-marie syndrome	HP:0001263|Global developmental delay;HP:0001250|Seizures;HP:0001288|Gait disturbance;HP:0100543|Cognitive impairment;HP:0001608|Abnormality of the voice;HP:0001172|Abnormality of the thumb;HP:0001344|Absent speech;HP:0009800|Maternal diabetes
permanent congenital hypothyroidism	HP:0001263|Global developmental delay;HP:0000853|Goiter;HP:0003270|Abdominal distention;HP:0002045|Hypothermia;HP:0008188|Thyroid dysgenesis;HP:0000239|Large fontanelles;HP:0001537|Umbilical hernia;HP:0002445|Tetraplegia;HP:0004322|Short stature;HP:0001615|Hoarse cry;HP:0002019|Constipation;HP:0000158|Macroglossia;HP:0000280|Coarse facial features;HP:0001252|Muscular hypotonia;HP:0000952|Jaundice;HP:0000821|Hypothyroidism;HP:0002360|Sleep disturbance;HP:0011968|Feeding difficulties;HP:0000271|Abnormality of the face;HP:0001249|Intellectual disability
primary orthostatic tremor	HP:0002071|Abnormality of extrapyramidal motor function;HP:0003326|Myalgia;HP:0003011|Abnormality of the musculature;HP:0001337|Tremor;HP:0003457|EMG abnormality;HP:0100022|Abnormality of movement;HP:0003394|Muscle cramps
autosomal recessive malignant osteopetrosis	HP:0000639|Nystagmus;HP:0000944|Abnormality of the metaphyses;HP:0006487|Bowing of the long bones;HP:0010543|Opsoclonus;HP:0002653|Bone pain;HP:0000365|Hearing impairment;HP:0000978|Bruising susceptibility;HP:0005930|Abnormality of epiphysis morphology;HP:0006323|Premature loss of primary teeth;HP:0002205|Recurrent respiratory infections;HP:0002716|Lymphadenopathy;HP:0004370|Abnormality of temperature regulation;HP:0010719|Abnormality of hair texture;HP:0002148|Hypophosphatemia;HP:0002257|Chronic rhinitis;HP:0000684|Delayed eruption of teeth;HP:0000774|Narrow chest;HP:0000772|Abnormality of the ribs;HP:0008066|Abnormal blistering of the skin;HP:0001903|Anemia;HP:0001510|Growth delay;HP:0000388|Otitis media;HP:0000256|Macrocephaly;HP:0002901|Hypocalcemia;HP:0004415|Pulmonary artery stenosis;HP:0002757|Recurrent fractures;HP:0100022|Abnormality of movement;HP:0001641|Abnormality of the pulmonary valve;HP:0011002|Osteopetrosis;HP:0002240|Hepatomegaly;HP:0001939|Abnormality of metabolism/homeostasis;HP:0001744|Splenomegaly;HP:0001363|Craniosynostosis;HP:0007807|Optic nerve compression;HP:0000505|Visual impairment;HP:0001337|Tremor;HP:0006824|Cranial nerve paralysis;HP:0000649|Abnormality of visual evoked potentials;HP:0004349|Reduced bone mineral density;HP:0002092|Pulmonary arterial hypertension;HP:0000238|Hydrocephalus;HP:0000980|Pallor;HP:0002104|Apnea
mixed-type autoimmune hemolytic anemia	HP:0000988|Skin rash;HP:0002829|Arthralgia;HP:0003573|Increased total bilirubin;HP:0012086|Abnormal urinary color;HP:0002875|Exertional dyspnea;HP:0002665|Lymphoma;HP:0001324|Muscle weakness;HP:0012378|Fatigue;HP:0002960|Autoimmunity;HP:0001890|Autoimmune hemolytic anemia;HP:0001945|Fever;HP:0001649|Tachycardia;HP:0000980|Pallor;HP:0002725|Systemic lupus erythematosus
holoprosencephaly, semilobar, with craniosynostosis	HP:0008479|Small vertebrae;HP:0004443|Lambdoid suture synostosis;HP:0004440|Craniosynostosis of coronal suture;HP:0009882|Hypoplastic terminal phalanges;HP:0002507|Semilobar holoprosencephaly;HP:0002673|Coxa valga
crome syndrome	HP:0000639|Nystagmus;HP:0001298|Encephalopathy;HP:0001250|Seizures;HP:0004322|Stature below 3rd percentile;HP:0008682|Renal tubular necrosis;HP:0007033|Cerebellar dysplasia;HP:0000519|Cataracts, lenticular, bilateral;HP:0001249|Mental retardation
parc syndrome	HP:0001596|Hair loss;HP:0001029|Poikiloderma;HP:0002223|Absent eyebrow;HP:0000561|Absent eyelashes;HP:0000175|Palatoschisis;HP:0000308|Retromicrognathia
oculorenocerebellar syndrome	HP:0010620|Malar prominence;HP:0000096|Glomerulosclerosis;HP:0000518|Cataract;HP:0004322|Short stature;HP:0008046|Abnormality of the retinal vasculature;HP:0001266|Choreoathetosis;HP:0000093|Proteinuria;HP:0000083|Renal insufficiency;HP:0001257|Spasticity;HP:0100820|Glomerulopathy;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0000154|Wide mouth;HP:0001939|Laboratory abnormality;HP:0000303|Mandibular prognathia;HP:0001053|Hypopigmented skin patches;HP:0000486|Strabismus;HP:0009748|Large earlobe;HP:0005692|Joint hyperflexibility;HP:0001852|Sandal gap;HP:0000112|Nephropathy;HP:0001264|Spastic diplegia;HP:0001249|Mental retardation;HP:0000298|Mask-like facies;HP:0000275|Narrow face;HP:0002650|Scoliosis;HP:0000648|Optic atrophy;HP:0007703|Abnormality of retinal pigmentation;HP:0002187|Intellectual disability, profound;HP:0000505|Visual impairment;HP:0001347|Hyperreflexia;HP:0000400|Macrotia;HP:0000546|Retinal degeneration;HP:0001252|Muscular hypotonia;HP:0010669|Cheekbone underdevelopment
spontaneous periodic hypothermia	HP:0000988|Skin rash;HP:0001250|Seizures;HP:0000975|Hyperhidrosis;HP:0002045|Hypothermia;HP:0001251|Ataxia;HP:0001288|Gait disturbance;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0012378|Fatigue;HP:0001337|Tremor;HP:0002014|Diarrhea;HP:0011675|Arrhythmia;HP:0002017|Nausea and vomiting;HP:0004372|Reduced consciousness/confusion;HP:0002793|Abnormal pattern of respiration;HP:0000980|Pallor;HP:0002360|Sleep disturbance
caudal duplication anomaly	HP:0003762|Uterus didelphys;HP:0000073|Ureteral duplication
auriculoosteodysplasia	HP:0000889|Abnormality of the clavicle;HP:0001385|Congenital hip dysplasia;HP:0004322|Stature below 3rd percentile;HP:0001385|Hip dysplasia;HP:0006501|Aplasia/Hypoplasia of the radius;HP:0009907|Adherent earlobe;HP:0004322|Short stature;HP:0001163|Abnormality of the metacarpal bones;HP:0003042|Elbow dislocation;HP:0003019|Abnormality of the wrist;HP:0000400|Macrotia;HP:0009907|Attached earlobe;HP:0009906|Aplasia/Hypoplasia of the earlobes;HP:0003083|Dislocated radius
rhizomelic dysplasia, patterson-lowry type	HP:0008905|Rhizomelic short limbs;HP:0003196|Short nose;HP:0005687|Deformed humeral heads;HP:0100729|Large face;HP:0000445|Wide nose;HP:0005687|Deformed head of long bone in upper arm;HP:0001156|Brachydactyly syndrome;HP:0012368|Flat face;HP:0000303|Mandibular prognathia;HP:0003307|Hyperlordosis;HP:0004097|Deviation of finger;HP:0010049|Short metacarpal;HP:0000286|Epicanthus;HP:0003312|Abnormal form of the vertebral bodies;HP:0000457|Depressed nasal ridge;HP:0005792|Short humerus;HP:0001156|Brachydactyly;HP:0002857|Genu valgum;HP:0000926|Flattened vertebral bodies;HP:0002812|Coxa vara;HP:0005792|Short upper arms;HP:0008905|Rhizomelia
vascular hyalinosis	HP:0002243|Protein-losing enteropathy;HP:0001029|Poikiloderma;HP:0002514|Intracranial calcifications;HP:0002138|Subarachnoid hemorrhage;HP:0002617|Aneurysmal dilatation;HP:0002024|Intestinal malabsorption;HP:0007777|Chorioretinal scar;HP:0002573|Bloody diarrhea;HP:0002216|Premature hair graying
pfeiffer-palm-teller syndrome	HP:0001387|Stiff joints;HP:0000286|Palpebronasal fold;HP:0004322|Stature below 3rd percentile;HP:0000581|Blepharophimosis;HP:0001620|High pitched voice;HP:0000378|Cupped ear;HP:0006297|Hypoplasia of tooth enamel;HP:0001650|Valvular aortic stenosis
papular xanthoma	HP:0003077|Hyperlipidemia;HP:0100727|Histiocytosis;HP:0200035|Skin plaque;HP:0001013|Eruptive xanthomas
nievergelt syndrome	HP:0001440|Fusion of metatarsals;HP:0008368|Tarsal fusions;HP:0008845|Mesomelic dwarfism;HP:0003048|Radial subluxation;HP:0001762|Talipes equinovarus;HP:0002974|Fused forearm bones;HP:0010781|Skin dimples;HP:0003027|Mesomelia;HP:0002857|Genu valgum;HP:0001548|Overgrowth
frias syndrome	HP:0000520|Anterior bulging of the globe of eye;HP:0004322|Stature below 3rd percentile;HP:0001263|Developmental retardation;HP:0000347|Hypoplasia of mandible;HP:0000316|Increased distance between eye sockets;HP:0000494|Downward slanting palpebral fissures;HP:0000378|Cupped ear;HP:0000508|Drooping upper eyelid;HP:0000358|Ear, posterior angulation, increased
teebi-shaltout syndrome	HP:0002705|High, narrow palate;HP:0012385|Camptodactyly;HP:0000677|Failure of development of more than six teeth;HP:0000506|Telecanthus;HP:0010291|Prominent palatine ridges;HP:0000385|Small earlobes;HP:0008589|Underdeveloped helices;HP:0000154|Large mouth;HP:0000319|Smooth philtrum;HP:0000316|Increased distance between eye sockets;HP:0000431|Broad nasal root;HP:0000508|Drooping upper eyelid;HP:0030799|Scaphocephaly;HP:0002217|Slow growing hair;HP:0000430|Nasal cartilage hypoplasia;HP:0002825|Coccygeal tail
pancreatic colipase deficiency	HP:0001738|Exocrine pancreatic insufficiency;HP:0002570|Steatorrhea;HP:0001081|Cholelithiasis;HP:0001889|Megaloblastic anemia;HP:0002028|Chronic diarrhea;HP:0002630|Fat malabsorption;HP:0001510|Growth delay
fetal cytomegalovirus syndrome	HP:0001744|Splenomegaly;HP:0000504|Abnormality of vision;HP:0001928|Abnormality of coagulation;HP:0002240|Hepatomegaly;HP:0000407|Sensorineural hearing impairment;HP:0001903|Anemia;HP:0000478|Abnormality of the eye
muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus	HP:0000510|Retinitis pigmentosa;HP:0003202|Neurogenic muscle atrophy, especially in the lower limbs;HP:0001251|Ataxia;HP:0000819|Diabetes mellitus
inhalational botulism	HP:0003470|Paralysis;HP:0002094|Dyspnea;HP:0011499|Mydriasis;HP:0000016|Urinary retention;HP:0001324|Muscle weakness;HP:0002014|Diarrhea;HP:0012378|Fatigue;HP:0002019|Constipation;HP:0002017|Nausea and vomiting;HP:0006824|Cranial nerve paralysis;HP:0000651|Diplopia;HP:0000217|Xerostomia;HP:0000508|Ptosis
chromosome 2p16.1-p15 deletion syndrome	HP:0000767|Funnel chest;HP:0000486|Squint eyes;HP:0001611|Hypernasal speech;HP:0007018|Attention deficits;HP:0000581|Blepharophimosis;HP:0001601|Laryngomalacia;HP:0001848|Calcaneovalgus Foot;HP:0000248|Brachycephaly;HP:0001840|Forefoot varus;HP:0008734|Decreased testicular size;HP:0001166|Long, slender fingers;HP:0000343|Vertical hyperplasia of philtrum;HP:0000135|Hypogonadism;HP:0001257|Spasticity;HP:0000286|Palpebronasal fold;HP:0004322|Stature below 3rd percentile;HP:0000506|Telecanthus;HP:0000126|Hydronephrosis;HP:0001302|Cerebral pachygyria;HP:0002539|Cortical dysplasia;HP:0000232|Everted prominent lower lip;HP:0005274|Pronounced tip of nose;HP:0001249|Mental retardation;HP:0008872|Feeding difficulties in infancy;HP:0000054|Short penis;HP:0000252|Small head circumference;HP:0002751|Kyphoscoliosis;HP:0001263|Developmental retardation;HP:0009473|Joint contracture of the hand;HP:0000400|Large ears;HP:0012745|Decreased height of palpebral fissure;HP:0000431|Broad nasal root;HP:0002788|Recurrent upper respiratory infection;HP:0006610|Wide intermamillary distance;HP:0000609|Optic nerve hypoplasia;HP:0002705|High, narrow palate;HP:0012385|Camptodactyly;HP:0000341|Narrow bitemporal diameter;HP:0000407|sensorineural hearing loss;HP:0000494|Downward slanting palpebral fissures;HP:0000278|Receding lower jaw;HP:0000508|Drooping upper eyelid
radial ray hypoplasia with choanal atresia	HP:0009622|Distally placed thumb;HP:0001245|Hypoplastic thenar eminences;HP:0005280|Flat, nasal bridge;HP:0000452|Coanal stenosis;HP:0000453|Blockage of the rear opening of the nasal cavity;HP:0009778|Small thumbs;HP:0000565|Inward turning of one or both eyes;HP:0002984|Hypoplastic radius
bangstad syndrome	HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0000035|Abnormality of the testis;HP:0000490|Deeply set eye;HP:0000828|Abnormality of the parathyroid gland;HP:0001251|Ataxia;HP:0000842|Hyperinsulinemia;HP:0004322|Short stature;HP:0000275|Narrow face;HP:0000252|Microcephaly;HP:0000444|Convex nasal ridge;HP:0008193|Primary gonadal insufficiency;HP:0001249|Intellectual disability;HP:0000164|Abnormality of the teeth;HP:0100651|Type I diabetes mellitus;HP:0001511|Intrauterine growth retardation;HP:0004097|Deviation of finger;HP:0000147|Polycystic ovaries;HP:0001578|Hypercortisolism;HP:0000821|Hypothyroidism;HP:0000340|Sloping forehead
kniest-like dysplasia, lethal	HP:0008905|Rhizomelic short limbs;HP:0003417|Coronal vertebral clefts;HP:0000316|Increased distance between eye sockets;HP:0001561|Hydramnios;HP:0000470|Decreased cervical height;HP:0000941|Short shaft of long bone;HP:0012368|Flat face;HP:0002652|Skeletal dysplasia;HP:0000369|Low-set ears;HP:0000377|Malformation of auricle;HP:0004482|Macrocephaly, relative;HP:0001762|Talipes equinovarus;HP:0003025|Frayed, irregular metaphyses;HP:0001623|Breech presentation at birth;HP:0001622|Premature delivery;HP:0011675|Arrhythmias;HP:0000175|Palatoschisis;HP:0003015|Metaphyseal splaying;HP:0001538|Protuberant abdomen;HP:0008479|Small vertebrae;HP:0000773|Rib hypoplasia;HP:0001643|Persistent ductus arteriosus;HP:0001156|Brachydactyly;HP:0000260|Wide anterior fontanel;HP:0000774|Low chest circumference;HP:0000885|Wide ribs;HP:0000969|Dropsy;HP:0000926|Flattened vertebral bodies;HP:0000946|Small iliac bones;HP:0000272|Depressed malar region;HP:0000947|Dumbbell-shaped long bone;HP:0000160|Small mouth;HP:0008909|Lethal short-limbed dwarfism;HP:0001631|Atria septal defect
joint laxity, familial	HP:0001374|Congenital hip dislocation;HP:0001388|Joint laxity
monosomy 22	HP:0000470|Short neck;HP:0001051|Seborrheic dermatitis;HP:0001006|Hypotrichosis;HP:0005781|Contractures of the large joints;HP:0100008|Schwannoma;HP:0000954|Single transverse palmar crease;HP:0002858|Meningioma;HP:0000233|Thin vermilion border;HP:0000218|High palate;HP:0010541|Cutis gyrata of scalp;HP:0000445|Wide nose;HP:0000606|Abnormality of the periorbital region;HP:0001433|Hepatosplenomegaly;HP:0006101|Finger syndactyly;HP:0012368|Flat face;HP:0000343|Long philtrum;HP:0004840|Hypochromic microcytic anemia;HP:0000194|Open mouth;HP:0008066|Abnormal blistering of the skin;HP:0001276|Hypertonia;HP:0000286|Epicanthus;HP:0000975|Hyperhidrosis;HP:0001386|Joint swelling;HP:0000252|Microcephaly;HP:0100242|Sarcoma;HP:0000664|Synophrys;HP:0100324|Scleroderma;HP:0004209|Clinodactyly of the 5th finger;HP:0001249|Intellectual disability;HP:0000278|Retrognathia;HP:0000269|Prominent occiput;HP:0000348|High forehead;HP:0001217|Clubbing;HP:0005272|Prominent nasolabial fold;HP:0045025|Narrow palpebral fissure;HP:0000368|Low-set, posteriorly rotated ears;HP:0001072|Thickened skin;HP:0010785|Gonadal neoplasm;HP:0005359|Aplasia of the thymus;HP:0000054|Micropenis
ring chromosome 13	HP:0010864|Intellectual disability, severe;HP:0000470|Short neck;HP:0001274|Agenesis of corpus callosum;HP:0002023|Anal atresia;HP:0003256|Abnormality of the coagulation cascade;HP:0001000|Abnormality of skin pigmentation;HP:0000358|Posteriorly rotated ears;HP:0000218|High palate;HP:0000243|Trigonocephaly;HP:0005280|Depressed nasal bridge;HP:0001290|Generalized hypotonia;HP:0030032|Partial absence of foot;HP:0000676|Abnormality of the incisor;HP:0000047|Hypospadias;HP:0000347|Micrognathia;HP:0002652|Skeletal dysplasia;HP:0002007|Frontal bossing;HP:0000479|Abnormality of the retina;HP:0000316|Hypertelorism;HP:0000062|Ambiguous genitalia;HP:0012211|Abnormal renal physiology;HP:0000048|Bifid scrotum;HP:0001510|Growth delay;HP:0000286|Epicanthus;HP:0009919|Retinoblastoma;HP:0000252|Microcephaly;HP:0001999|Abnormal facial shape;HP:0011301|Absent foot;HP:0000431|Wide nasal bridge;HP:0000322|Short philtrum;HP:0000717|Autism;HP:0000957|Cafe-au-lait spot;HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0005927|Aplasia/hypoplasia involving bones of the hand;HP:0001596|Alopecia;HP:0005233|Hypoplasia of the gallbladder;HP:0000463|Anteverted nares;HP:0100779|Urogenital sinus anomaly;HP:0000400|Macrotia;HP:0000054|Micropenis;HP:0002323|Anencephaly;HP:0000832|Primary hypothyroidism
ring chromosome 12	HP:0001263|Global developmental delay;HP:0000028|Cryptorchidism;HP:0001061|Acne;HP:0001810|Dystrophic toenail;HP:0002938|Lumbar hyperlordosis;HP:0004207|Abnormality of the 5th finger;HP:0009656|Symphalangism of the thumb;HP:0000807|Glandular hypospadias;HP:0001684|Secundum atrial septal defect;HP:0007477|Abnormal dermatoglyphics;HP:0000767|Pectus excavatum;HP:0000369|Low-set ears;HP:0000465|Webbed neck;HP:0030084|Clinodactyly;HP:0001028|Hemangioma;HP:0001510|Growth delay;HP:0003187|Breast hypoplasia;HP:0001518|Small for gestational age;HP:0000252|Microcephaly;HP:0001999|Abnormal facial shape;HP:0000131|Uterine leiomyoma;HP:0000565|Esotropia;HP:0002705|High, narrow palate;HP:0001159|Syndactyly;HP:0001007|Hirsutism;HP:0008551|Microtia;HP:0000821|Hypothyroidism
absent eyebrows and eyelashes with mental retardation	HP:0000252|Small head circumference;HP:0003196|Short nose;HP:0002084|Bifid skull;HP:0002478|Progressive spastic quadriplegia;HP:0002223|Absent eyebrow;HP:0000561|Absent eyelashes;HP:0000444|Polly beak nasal deformity;HP:0000501|Glaucoma;HP:0001249|Mental retardation
elastoderma	HP:0100963|Hyperesthesia;HP:0001055|Erysipelas;HP:0100678|Premature skin wrinkling;HP:0000973|Cutis laxa;HP:0000964|Eczema;HP:0200036|Skin nodule;HP:0200034|Papule
hemangiomas, cavernous, of face and supraumbilical midline raphe	HP:0007486|Cavernous hemangioma of the face
generalized eruptive keratoacanthoma	HP:0000481|Abnormality of the cornea;HP:0001097|Keratoconjunctivitis sicca;HP:0000656|Ectropion;HP:0002015|Dysphagia;HP:0000509|Conjunctivitis;HP:0000989|Pruritus;HP:0200034|Papule;HP:0001609|Hoarse voice
brachydactyly-distal symphalangism syndrome	HP:0001769|Broad foot;HP:0007598|Bilateral single transverse palmar creases;HP:0010034|Short 1st metacarpal;HP:0006170|Chess-pawn shaped outermost bone;HP:0001204|Symphalangism affecting the distal phalanges of the hand;HP:0009371|Type A1 brachydactyly;HP:0003180|Flat acetabular roof;HP:0000098|Increased body height;HP:0100490|Camptodactyly of finger;HP:0002944|Thoracolumbar scoliosis;HP:0010239|Absent middle bones of hand;HP:0001761|Pes cavus
diprosopus	HP:0007703|Abnormality of retinal pigmentation;HP:0000175|Cleft palate;HP:0000504|Abnormality of vision;HP:0008572|External ear malformation;HP:0000366|Abnormality of the nose;HP:0001671|Abnormality of the cardiac septa;HP:0100335|Non-midline cleft lip;HP:0002323|Anencephaly;HP:0000271|Abnormality of the face;HP:0000478|Abnormality of the eye
miles-carpenter x-linked mental retardation syndrome	HP:0000252|Small head circumference;HP:0000577|Exotropia;HP:0003693|Muscle atrophy, distal;HP:0000951|dermatopathy;HP:0001249|Mental retardation;HP:0002803|Congenital joint contractures
ankyloblepharon filiforme adnatum and cleft palate	HP:0000175|Palatoschisis;HP:0009755|Eyelid synechiae;HP:0000204|Cleft upper lip
pili bifurcati	HP:0010719|Abnormality of hair texture;HP:0001595|Abnormality of the hair
acromelanosis	HP:0007400|Irregular hyperpigmentation
clavicle, pseudarthrosis of, congenital	HP:0002705|High, narrow palate;HP:0000164|Abnormality of the teeth;HP:0004322|Stature below 3rd percentile;HP:0006585|Congenital pseudoarthrosis of the clavicle
aprosencephaly syndrome	HP:0001180|Hand oligodactyly;HP:0002323|Anencephaly;HP:0007268|Aprosencephaly
copper deficiency, familial benign	HP:0000924|Abnormality of the skeletal system;HP:0001250|Seizures;HP:0001051|Seborrheic dermatitis;HP:0001508|Weight faltering;HP:0002212|Curly hair;HP:0011967|Hypocupremia;HP:0002234|Early balding;HP:0001903|Anemia
familial short qt syndrome	HP:0001962|Palpitations;HP:0001645|Sudden cardiac death;HP:0012232|Shortened QT interval;HP:0001279|Syncope;HP:0001663|Ventricular fibrillation;HP:0001678|Atrioventricular block;HP:0001662|Bradycardia;HP:0004308|Ventricular arrhythmia;HP:0005110|Atrial fibrillation
fetal minoxidil syndrome	HP:0000028|Cryptorchidism;HP:0000347|Micrognathia;HP:0001537|Umbilical hernia;HP:0001629|Ventricular septal defect;HP:0000368|Low-set, posteriorly rotated ears;HP:0002230|Generalized hirsutism;HP:0005280|Depressed nasal bridge;HP:0004209|Clinodactyly of the 5th finger
vestibulocochlear dysfunction, progressive	HP:0008568|Vestibular areflexia;HP:0001730|Progressive hearing impairment;HP:0000360|Ringing in the ears;HP:0000707|Neurological abnormality
astley-kendall dysplasia	HP:0002703|Abnormality of skull ossification;HP:0010655|Epiphyseal stippling;HP:0008873|Disproportionate short-limb short stature;HP:0002983|Micromelia
woolly hair, hypotrichosis, everted lower lip, and outstanding ears	HP:0002224|Woolly hair;HP:0000232|Everted prominent lower lip;HP:0001006|Marked hypotrichosis;HP:0000411|Prominent ears
vitamin b12-responsive methylmalonic acidemia	HP:0001263|Global developmental delay;HP:0002093|Respiratory insufficiency;HP:0000083|Renal insufficiency;HP:0001259|Coma;HP:0001254|Lethargy;HP:0001987|Hyperammonemia;HP:0002017|Nausea and vomiting;HP:0001508|Failure to thrive;HP:0001252|Muscular hypotonia;HP:0001944|Dehydration;HP:0002240|Hepatomegaly;HP:0001903|Anemia;HP:0001249|Intellectual disability
polydactyly, postaxial, with progressive myopia	HP:0000545|Near sightedness;HP:0001162|Postaxial polydactyly of fingers
achondroplasia, so-called, and severe combined immunodeficiency	HP:0000778|Thymus hypoplasia;HP:0001888|Lymphocytopenia;HP:0004432|Agammaglobulinaemia;HP:0000765|Abnormality of the thorax;HP:0004430|Severe combined immunodeficiency;HP:0005871|Metaphyseal chondrodysplasia
parietal foramina with cleidocranial dysplasia	HP:0000894|Short clavicles;HP:0004492|Widely patent fontanelles and sutures;HP:0000256|Macrocrania;HP:0002697|Parietal foramina;HP:0002695|Symmetrical, oval parietal bone defects;HP:0008551|Hypoplasia of the external ear
blue diaper syndrome	HP:0003072|Hypercalcemia;HP:0001438|Abnormality of the abdomen;HP:0000121|Nephrocalcinosis
spinocerebellar ataxia 15	HP:0002070|Appendicular ataxia;HP:0007979|Gaze-evoked horizontal nystagmus;HP:0002174|Postural tremor;HP:0001347|Hyperreflexia;HP:0007772|Impaired smooth pursuit;HP:0000641|Dysmetric eye movements;HP:0001272|Cerebellar atrophy;HP:0002066|Gait ataxia;HP:0001260|Dysarthric speech;HP:0002078|Truncal ataxia;HP:0002168|Explosive speech
osteoarthropathy of fingers, familial	HP:0006009|Wide phalanges;HP:0009803|Hypoplastic/small phalanges of the hand
benign occipital epilepsy	HP:0002353|Abnormal EEG;HP:0001250|Seizures
cone-rod dystrophy 5	HP:0007663|Central visual loss;HP:0000551|Abnormal color vision;HP:0000548|Cone rod dystrophy;HP:0000608|Macular degeneration;HP:0000613|Extreme light sensitivity
joubert syndrome 5	HP:0001252|Hypotonia;HP:0000639|Nystagmus;HP:0003774|End-stage renal failure;HP:0004727|Urine concentration defect;HP:0002876|Hyperpnea, episodic;HP:0001251|Ataxia;HP:0000090|juvenile nephronophthisis;HP:0002404|Thickened superior cerebellar peduncle;HP:0000547|Tapetoretinal degeneration;HP:0006817|Aplasia/Hypoplasia of the cerebellar vermis;HP:0000657|Oculomotor apraxia;HP:0002871|Central apnea;HP:0002335|Agenesis of cerebellar vermis;HP:0000480|Retinal coloboma;HP:0002790|Impaired breathing in newborn;HP:0007875|Congenital blindness;HP:0000803|Cortical cysts;HP:0002419|'molar tooth sign' on brain imaging';HP:0001249|Mental retardation
neuronal intestinal pseudoobstruction	HP:0005249|Functional intestinal obstruction;HP:0002253|Colonic diverticulosis;HP:0002013|Emesis;HP:0001284|Areflexia;HP:0002566|Intestinal malrotation;HP:0010831|Impaired proprioception;HP:0002066|Gait ataxia;HP:0002574|Episodic abdominal pain;HP:0001260|Dysarthric speech;HP:0002495|Decreased vibration sense
colchicine poisoning	HP:0002013|Vomiting;HP:0003111|Abnormality of ion homeostasis;HP:0002098|Respiratory distress;HP:0000083|Renal insufficiency;HP:0001635|Congestive heart failure;HP:0001871|Abnormality of blood and blood-forming tissues;HP:0002018|Nausea;HP:0002014|Diarrhea;HP:0002148|Hypophosphatemia;HP:0002902|Hyponatremia;HP:0100520|Oliguria;HP:0002615|Hypotension;HP:0004372|Reduced consciousness/confusion;HP:0001944|Dehydration;HP:0001942|Metabolic acidosis;HP:0003128|Lactic acidosis;HP:0002900|Hypokalemia;HP:0002901|Hypocalcemia;HP:0011106|Hypovolemia;HP:0011675|Arrhythmia;HP:0012819|Myocarditis;HP:0006846|Acute encephalopathy;HP:0030149|Cardiogenic shock;HP:0001974|Leukocytosis;HP:0001596|Alopecia;HP:0002917|Hypomagnesemia;HP:0005521|Disseminated intravascular coagulation;HP:0006543|Cardiorespiratory arrest;HP:0004360|Abnormality of acid-base homeostasis
distal symphalangism	HP:0001859|Distal foot symphalangism;HP:0001049|Absent dorsal skin creases over affected joints;HP:0001204|Symphalangism affecting the distal phalanges of the hand;HP:0001798|Anonychia;HP:0001363|Early fusion of cranial sutures;HP:0001792|Hypoplastic nails;HP:0001156|Brachydactyly
pigmented purpuric eruption	HP:0000951|dermatopathy
pseudohypoparathyroidism type 1c	HP:0000639|Nystagmus;HP:0000470|Short neck;HP:0008202|Prolactin deficiency;HP:0002135|Basal ganglia calcification;HP:0002094|Dyspnea;HP:0000815|Hypergonadotropic hypogonadism;HP:0000518|Cataract;HP:0011458|Abdominal symptom;HP:0004322|Short stature;HP:0003165|Elevated circulating parathyroid hormone level;HP:0006960|Choroid plexus calcification;HP:0012185|Constrictive median neuropathy;HP:0011986|Ectopic ossification;HP:0010044|Short 4th metacarpal;HP:0000824|Growth hormone deficiency;HP:0005280|Depressed nasal bridge;HP:0000852|Pseudohypoparathyroidism;HP:0001156|Brachydactyly syndrome;HP:0003456|Low urinary cyclic AMP response to PTH administration;HP:0002591|Polyphagia;HP:0000876|Oligomenorrhea;HP:0003401|Paresthesia;HP:0012049|Laryngeal dystonia;HP:0001289|Confusion;HP:0009642|Broad distal phalanx of the thumb;HP:0000684|Delayed eruption of teeth;HP:0003394|Muscle cramps;HP:0001265|Hyporeflexia;HP:0000739|Anxiety;HP:0010049|Short metacarpal;HP:0025027|Osteoma cutis;HP:0006297|Hypoplasia of dental enamel;HP:0011001|Increased bone mineral density;HP:0002905|Hyperphosphatemia;HP:0002901|Hypocalcemia;HP:0003472|Hypocalcemic tetany;HP:0000293|Full cheeks;HP:0001657|Prolonged QT interval;HP:0002514|Cerebral calcification;HP:0000311|Round face;HP:0030057|Autoimmune antibody positivity;HP:0008227|Pituitary resistance to thyroid hormone;HP:0001249|Intellectual disability;HP:0001513|Obesity;HP:0003761|Calcinosis;HP:0004704|Short fifth metatarsal;HP:0010041|Short 3rd metacarpal;HP:0000509|Conjunctivitis;HP:0000716|Depression;HP:0000737|Irritability;HP:0003739|Myoclonic spasms;HP:0100749|Chest pain;HP:0002199|Hypocalcemic seizures;HP:0010743|Short metatarsal;HP:0010047|Short 5th metacarpal
agenesis of the dorsal pancreas	HP:0001732|Abnormality of the pancreas;HP:0000819|Diabetes mellitus
thyroid dyshormonogenesis 5	HP:0001510|Growth deficiency;HP:0000821|Underactive thyroid;HP:0001939|Laboratory abnormality;HP:0001249|Mental retardation;HP:0000853|Goitre
schizophrenia 10	HP:0000298|Lack of facial expression;HP:0000738|Sensory hallucination;HP:0100753|Schizophrenia;HP:0005324|Disturbance of facial expression;HP:0000746|Delusions;HP:0000725|Psychotic episodes
pseudohypoparathyroidism type 2	HP:0003165|Elevated circulating PTH level;HP:0003401|Paresthesia;HP:0002905|Hyperphosphatemia;HP:0012049|Laryngeal dystonia;HP:0002901|Hypocalcemia;HP:0003472|Hypocalcemic tetany;HP:0003165|Elevated circulating parathyroid hormone level;HP:0001657|Prolonged QT interval;HP:0002199|Hypocalcemic seizures;HP:0011458|Abdominal symptom;HP:0003739|Myoclonic spasms;HP:0003761|Calcinosis;HP:0003394|Muscle cramps;HP:0010766|Ectopic calcification;HP:0030057|Autoimmune antibody positivity;HP:0000852|Pseudohypoparathyroidism;HP:0003456|Low urinary cyclic AMP response to PTH administration
glycogen storage disease ic	HP:0001997|Gout;HP:0000991|Xanthomata;HP:0012522|Spider hemangioma;HP:0002240|Enlarged liver;HP:0001942|Metabolic acidosis;HP:0001402|Hepatocellular carcinoma;HP:0006280|Chronic pancreas inflammation;HP:0002884|Hepatoblastoma;HP:0003128|Lactic acidosis;HP:0002092|Pulmonary artery hypertension;HP:0003077|Hyperlipidemia;HP:0000822|Hypertension;HP:0000823|Pubertal delay;HP:0000097|focal glomerulosclerosis;HP:0001946|High levels of ketone bodies;HP:0001943|Hypoglycemia;HP:0000790|Hematuria;HP:0000093|Proteinuria;HP:0012213|Reduced creatinine clearance;HP:0000083|Renal insufficiency
jankovic rivera syndrome	HP:0002359|Frequent falls;HP:0007269|Spinal muscle wasting;HP:0008955|Progressive distal muscular atrophy;HP:0002123|Myoclonus seizures;HP:0001337|Tremor;HP:0001308|Tongue fasciculation;HP:0002650|Scoliosis;HP:0003391|Gower sign;HP:0001284|Areflexia;HP:0000726|Dementia;HP:0002355|Difficulty walking;HP:0002205|Frequent respiratory infections;HP:0001336|Myoclonic jerks;HP:0010628|Facial palsy, unilateral or bilateral;HP:0002747|Respiratory distress due to muscle weakness;HP:0002398|Anterior horn cell loss
spinocerebellar ataxia 31	HP:0002070|Appendicular ataxia;HP:0001251|Ataxia;HP:0007979|Gaze-evoked horizontal nystagmus;HP:0001272|Cerebellar atrophy;HP:0000407|sensorineural hearing loss;HP:0002066|Gait ataxia;HP:0001260|Dysarthric speech
retinitis pigmentosa 14	HP:0000510|Retinitis pigmentosa
retinitis pigmentosa 18	HP:0000662|Poor night vision;HP:0007987|Progressive visual field defects;HP:0000510|Retinitis pigmentosa;HP:0000575|Scotoma;HP:0008043|Constricted retinal arterioles
visceral steatosis	HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0000952|Yellow skin;HP:0001343|Kernicterus;HP:0002901|Hypocalcemia;HP:0001254|Lethargy;HP:0001259|Coma;HP:0000119|Genitourinary abnormality;HP:0001943|Hypoglycemia;HP:0001892|Bleeding diathesis;HP:0001397|Hepatic steatosis;HP:0000799|Fatty kidney;HP:0006693|Myocardial steatosis
hemochromatosis, neonatal	HP:0001396|Cholestasis;HP:0001395|Hepatic fibrosis;HP:0003281|Increased ferritin;HP:0001399|Liver failure;HP:0001562|Oligohydramnios;HP:0001790|Nonimmune hydrops fetalis;HP:0001892|Bleeding diathesis;HP:0006579|Neonatal jaundice;HP:0001943|Hypoglycemia;HP:0001394|Hepatic cirrhosis;HP:0001404|Hepatocellular necrosis;HP:0003452|Increased serum iron;HP:0001511|Prenatal onset growth retardation
thyroid dyshormonogenesis 4	HP:0001510|Growth deficiency;HP:0000821|Underactive thyroid;HP:0001249|Mental retardation;HP:0000853|Goitre
pyridoxal 5'-phosphate-dependent epilepsy	HP:0001298|Encephalopathy;HP:0001250|Seizures;HP:0001942|Metabolic acidosis;HP:0000253|Microcephaly, postnatal, progressive;HP:0001943|Hypoglycemia;HP:0001622|Premature delivery;HP:0001508|Weight faltering;HP:0002151|Increased serum lactate;HP:0001336|Myoclonic jerks;HP:0001903|Anemia;HP:0008872|Feeding difficulties in infancy;HP:0008936|Truncal hypotonia;HP:0003785|Decreased CSF homovanillic acid
schizophrenia 4	HP:0001939|Laboratory abnormality;HP:0100753|Schizophrenia
cleft palate x-linked	HP:0000175|Palatoschisis;HP:0000193|Uvula bifida;HP:0010296|Ankyloglossia
cone-rod dystrophy 6	HP:0007663|Central visual loss;HP:0000548|Cone rod dystrophy;HP:0007994|Loss of peripheral vision
paragangliomas 2	HP:0030074|Chemodectoma;HP:0002886|Vagal nerve tumors;HP:0003001|Glomus jugulare tumor;HP:0001605|Vocal cord paralysis;HP:0006715|Tympanic nerve tumor;HP:0001686|Loss of voice
spermatogenic failure 5	HP:0000025|Functional abnormality of male internal genitalia;HP:0003251|Male infertility
thyroid dyshormonogenesis 2a	HP:0001939|Laboratory abnormality;HP:0000821|Underactive thyroid;HP:0008263|Thyroid defect in oxidation and organification of iodide;HP:0000853|Goitre
doyne honeycomb degeneration of retina	HP:0000556|Retinal dystrophy;HP:0000505|Poor vision;HP:0007937|Fishnet retinal pigmentation
mecp2-related severe neonatal encephalopathy	HP:0008936|Truncal hypotonia;HP:0001298|Encephalopathy;HP:0001250|Seizures;HP:0001263|Developmental retardation;HP:0000253|Microcephaly, postnatal, progressive;HP:0002063|Muscle rigidity;HP:0001347|Hyperreflexia;HP:0010864|Early and severe mental retardation;HP:0002104|Absence of spontaneous respiration;HP:0002126|Polymicrogyria;HP:0002020|Heartburn;HP:0002353|Abnormal EEG;HP:0001508|Weight faltering;HP:0007110|Central hypoventilation;HP:0001336|Myoclonic jerks;HP:0006887|Progressive mental retardation;HP:0002093|progressive respiratory failure;HP:0008872|Feeding difficulties in infancy
acropectorovertebral dysplasia	HP:0001256|Intellectual disability, mild;HP:0002705|High, narrow palate;HP:0000175|Cleft palate;HP:0006101|Finger syndactyly;HP:0008368|Tarsal synostosis;HP:0001199|Triphalangeal thumb;HP:0005048|Synostosis of carpal bones;HP:0011304|Broad thumb;HP:0100490|Camptodactyly of finger;HP:0000767|Pectus excavatum;HP:0002414|Spina bifida;HP:0009882|Short distal phalanx of finger
weill-marchesani syndrome, autosomal dominant	HP:0001650|Valvular aortic stenosis;HP:0000518|Cataract;HP:0009768|Widening of phalanges of the hand;HP:0000594|Shallow anterior chamber;HP:0000248|Brachycephaly;HP:0001083|Dislocated lenses;HP:0001629|Ventricular septal defects;HP:0001387|Stiff joints;HP:0000618|Blindness;HP:0002938|Exaggerated lumbar lordosis;HP:0011003|High myopia;HP:0001642|Pulmonic stenosis;HP:0000189|Decreased transverse dimension of palate;HP:0001169|Wide palm;HP:0003508|Short stature, proportionate;HP:0000327|Maxillary micrognathia;HP:0000586|Shallow orbits;HP:0001653|Mitral valve insufficiency;HP:0001643|Persistent ductus arteriosus;HP:0005280|Flat, nasal bridge;HP:0002682|Broad skull;HP:0006482|Dental malformations;HP:0000885|Wide ribs;HP:0002650|Scoliosis;HP:0000692|Malpositioned teeth;HP:0003416|Spinal canal stenosis;HP:0001783|Broad metatarsal;HP:0002753|Thin bony cortex;HP:0001230|Broad metacarpals;HP:0001256|Mild mental retardation;HP:0000501|Glaucoma;HP:0001156|Brachydactyly
aphakia, congenital primary	HP:0000568|Abnormally small globe of eye;HP:0007779|Anterior segment of eye aplasia;HP:0000526|Absent iris;HP:0007707|Congenital primary aphakia;HP:0000647|Sclerocornea
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	HP:0000047|Hypospadias;HP:0000840|Adrenogenital syndrome;HP:0001507|Abnormal growth;HP:0008221|Enlarged adrenal glands;HP:0000771|Gynaecomastia;HP:0000822|Hypertension;HP:0001943|Hypoglycemia;HP:0000765|Abnormality of the thorax;HP:0001945|Fever;HP:0000127|Salt wasting
thanatophoric dysplasia, type ii	HP:0001558|Decreased fetal movement;HP:0006584|Small abnormally formed scapulae;HP:0000926|Flattened vertebral bodies;HP:0002676|Cloverleaf skull;HP:0003185|Small sacroiliac notch;HP:0002677|Narrow foramen magnum;HP:0000773|Rib hypoplasia;HP:0008909|Lethal short-limbed dwarfism;HP:0003025|Frayed, irregular metaphyses;HP:0000774|Low chest circumference;HP:0000274|Hypoplasia of face;HP:0000910|Wide-cupped costochondral junctions;HP:0003015|Metaphyseal splaying;HP:0001561|Hydramnios;HP:0001156|Brachydactyly;HP:0002093|progressive respiratory failure;HP:0000946|Small iliac bones
familial spontaneous pneumothorax	HP:0002086|Abnormality of the respiratory system;HP:0002103|Abnormality of the pleura;HP:0002107|Pneumothorax
bresek syndrome	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0001357|Plagiocephaly;HP:0010864|Intellectual disability, severe;HP:0000568|Microphthalmia;HP:0000365|Hearing impairment;HP:0008734|Decreased testicular size;HP:0002251|Aganglionic megacolon;HP:0005343|Hypoplasia of the bladder;HP:0002937|Hemivertebrae;HP:0000369|Low-set ears;HP:0001162|Postaxial hand polydactyly;HP:0001511|Intrauterine growth retardation;HP:0000076|Vesicoureteral reflux;HP:0001510|Growth delay;HP:0000612|Iris coloboma;HP:0000175|Cleft palate;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0000089|Renal hypoplasia;HP:0012443|Abnormality of brain morphology;HP:0000609|Optic nerve hypoplasia;HP:0000110|Renal dysplasia;HP:0000411|Protruding ear;HP:0001596|Alopecia;HP:0000444|Convex nasal ridge;HP:0003811|Neonatal death;HP:0000238|Hydrocephalus;HP:0008064|Ichthyosis
orofaciodigital syndrome type 1	HP:0000180|Lobulated tongue;HP:0001274|Agenesis of corpus callosum;HP:0000682|Abnormality of dental enamel;HP:0000365|Hearing impairment;HP:0000453|Choanal atresia;HP:0000929|Abnormality of the skull;HP:0002299|Brittle hair;HP:0000218|High palate;HP:0011802|Hamartoma of tongue;HP:0100612|Odontogenic neoplasm;HP:0000093|Proteinuria;HP:0000083|Renal insufficiency;HP:0001156|Brachydactyly syndrome;HP:0000347|Micrognathia;HP:0001251|Ataxia;HP:0006101|Finger syndactyly;HP:0002007|Frontal bossing;HP:0000506|Telecanthus;HP:0008368|Tarsal synostosis;HP:0000126|Hydronephrosis;HP:0000316|Hypertelorism;HP:0000668|Hypodontia;HP:0000822|Hypertension;HP:0000164|Abnormality of the teeth;HP:0001056|Milia;HP:0001162|Postaxial hand polydactyly;HP:0001332|Dystonia;HP:0001829|Foot polydactyly;HP:0001737|Pancreatic cysts;HP:0002617|Aneurysm;HP:0004097|Deviation of finger;HP:0002208|Coarse hair;HP:0000271|Abnormality of the face;HP:0000494|Downslanted palpebral fissures;HP:0000924|Abnormality of the skeletal system;HP:0001250|Seizures;HP:0001831|Short toe;HP:0000175|Cleft palate;HP:0000324|Facial asymmetry;HP:0000003|Multicystic kidney dysplasia;HP:0000286|Epicanthus;HP:0001177|Preaxial hand polydactyly;HP:0000389|Chronic otitis media;HP:0000191|Accessory oral frenulum;HP:0008070|Sparse hair;HP:0100267|Lip pit;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0000187|Broad alveolar ridges;HP:0001305|Dandy-Walker malformation;HP:0001249|Intellectual disability;HP:0001738|Exocrine pancreatic insufficiency;HP:0002910|Elevated hepatic transaminases;HP:0001596|Alopecia;HP:0000958|Dry skin;HP:0000161|Median cleft lip;HP:0000199|Tongue nodules;HP:0001337|Tremor;HP:0010807|Open bite;HP:0001732|Abnormality of the pancreas;HP:0001161|Hand polydactyly;HP:0010579|Cone-shaped epiphysis;HP:0004349|Reduced bone mineral density;HP:0010669|Cheekbone underdevelopment;HP:0000430|Underdeveloped nasal alae
mental retardation syndrome, belgian type	HP:0001250|Seizures;HP:0000303|Increased size of lower jaw;HP:0003782|Eunuchoid habitus;HP:0002342|Intellectual disability, moderate;HP:0000445|Broad nose;HP:0000276|Long face;HP:0000819|Diabetes mellitus;HP:0000490|Sunken eyes;HP:0000815|Primary hypogonadism;HP:0003191|Notched nasal alae
osteopoikilosis and dacryocystitis	HP:0000620|Dacrocystitis;HP:0010739|Osteopoikilosis
paris-trousseau thrombocytopenia	HP:0001626|Abnormality of the cardiovascular system;HP:0001249|Intellectual disability
gurrieri syndrome	HP:0001250|Seizures;HP:0004322|Stature below 3rd percentile;HP:0003274|Hypoplastic acetabula;HP:0002652|Skeletal dysplasia;HP:0002866|Hypoplastic iliac alae;HP:0002750|Delayed bone maturation;HP:0005638|Decreased anterioposterior diameter of lumbar vertebral bodies;HP:0001249|Mental retardation
congenital bowing of long bones	HP:0003307|Hyperlordosis;HP:0006487|Bowing of the long bones
pterygium colli and mental retardation with facial and digital anomalies	HP:0001252|Hypotonia;HP:0007514|Edema of the dorsum of hands;HP:0009836|Broad terminal phalanges;HP:0000465|Pterygium colli;HP:0000369|Low-set ears;HP:0000411|Prominent ears;HP:0012098|Edema of the dorsum of feet;HP:0000248|Brachycephaly;HP:0000316|Increased distance between eye sockets;HP:0000582|Upward slanting of palpebral fissures;HP:0009623|Proximally placed thumbs;HP:0000508|Drooping upper eyelid;HP:0000358|Ear, posterior angulation, increased;HP:0001249|Mental retardation;HP:0000537|Epicanthus inversus
microcephaly-deafness syndrome	HP:0000324|Asymmetry of face;HP:0000252|Small head circumference;HP:0000369|Low-set ears;HP:0000347|Hypoplasia of mandible;HP:0000365|Hearing impairment;HP:0000378|Cupped ear;HP:0000232|Everted prominent lower lip;HP:0002057|Protruding area between the eyebrows;HP:0001249|Mental retardation
cardioskeletal syndrome, kuwaiti type	HP:0001627|Congenital heart defects;HP:0004322|Stature below 3rd percentile;HP:0002652|Skeletal dysplasia
oculocerebral hypopigmentation syndrome of preus	HP:0002705|High, narrow palate;HP:0001931|Hypochromic anaemia;HP:0001263|Developmental retardation;HP:0000691|Decreased width of tooth;HP:0000518|Cataract;HP:0001510|Growth deficiency;HP:0000687|Widely spaced teeth;HP:0000268|Dolichocephaly;HP:0007513|Pale pigmentation
steinfeld syndrome	HP:0009601|Absent/hypoplastic thumb;HP:0000925|Abnormality of the vertebral column;HP:0001627|Congenital heart defects;HP:0007744|Iridoretinal coloboma;HP:0008501|Medial cleft lip and palate;HP:0003468|Vertebral anomalies;HP:0000377|Malformation of auricle;HP:0009927|Failure of development of nose;HP:0000365|Hearing impairment;HP:0000568|Abnormally small globe of eye;HP:0000193|Uvula bifida;HP:0009829|Phocomelia;HP:0008718|Unilateral renal dysplasia;HP:0002984|Hypoplastic radius;HP:0000921|Absent ribs;HP:0003022|Short ulna;HP:0011467|Aplasia of the gallbladder;HP:0001360|Single brain ventricle
tempi syndrome	HP:0012418|Hypoxemia;HP:0003237|Increased IgG level;HP:0000077|Abnormality of the kidney;HP:0004936|Venous thrombosis;HP:0001009|Telangiectasia;HP:0011920|Transudative pleural effusion;HP:0001901|Polycythemia;HP:0002170|Intracranial hemorrhage;HP:0001899|Increased hematocrit;HP:0001041|Facial erythema;HP:0002315|Headache;HP:0001541|Ascites;HP:0004930|Abnormality of the pulmonary vasculature;HP:0001028|Hemangioma
spastic paraparesis and deafness	HP:0004322|Stature below 3rd percentile;HP:0000518|Cataract;HP:0001337|Tremor;HP:0000365|Hearing impairment;HP:0002313|Spastic paraparesis;HP:0000135|Hypogonadism
sonoda syndrome	HP:0000311|Round facial shape;HP:0004322|Stature below 3rd percentile;HP:0000160|Small mouth;HP:0005280|Flat, nasal bridge;HP:0001042|High axial triradius;HP:0001629|Ventricular septal defects;HP:0001249|Mental retardation
microcephaly with cervical spine fusion anomalies	HP:0004322|Stature below 3rd percentile;HP:0000252|Small head circumference;HP:0002948|Fusion of vertebral bodies;HP:0002176|Spinal cord compression;HP:0001249|Mental retardation;HP:0005881|Spinal instability
deafness-oligodontia syndrome	HP:0000677|Failure of development of more than six teeth;HP:0002321|Vertigo;HP:0008527|Hearing loss, congenital sensorineural;HP:0000359|Abnormality of the inner ear;HP:0000407|Sensorineural hearing impairment;HP:0000699|Diastasis of the teeth;HP:0000677|Oligodontia
fibromatosis, gingival, with progressive deafness	HP:0000169|Gingival fibrous nodules;HP:0000408|Bilateral progressive sensorineural hearing loss
hypertryptophanemia, familial	HP:0000486|Squint eyes;HP:0000712|Emotional instability;HP:0000505|Poor vision;HP:0001263|Developmental retardation;HP:0002342|Intellectual disability, moderate;HP:0001181|Adducted thumbs;HP:0000545|Near sightedness;HP:0100490|Camptodactyly of finger;HP:0003361|High urine tryptophan levels;HP:0000316|Increased distance between eye sockets;HP:0002761|Increased joint mobility;HP:0030214|Sex addiction;HP:0000407|sensorineural hearing loss;HP:0000716|Depression;HP:0001763|Pes planus;HP:0001377|Restricted elbow extension;HP:0000718|Aggressive behaviour
mosaic trisomy 14	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0000470|Short neck;HP:0000581|Blepharophimosis;HP:0000218|High palate;HP:0000508|Ptosis;HP:0008736|Hypoplasia of penis;HP:0000047|Hypospadias;HP:0007598|Bilateral single transverse palmar creases;HP:0000347|Micrognathia;HP:0000154|Wide mouth;HP:0002007|Frontal bossing;HP:0002564|Malformation of the heart and great vessels;HP:0000316|Hypertelorism;HP:0008056|Aplasia/Hypoplasia affecting the eye;HP:0000774|Narrow chest;HP:0000772|Abnormality of the ribs;HP:0001250|Seizures;HP:0002916|Abnormality of chromosome segregation;HP:0000175|Cleft palate;HP:0001508|Failure to thrive;HP:0000431|Wide nasal bridge;HP:0001249|Intellectual disability;HP:0000426|Prominent nasal bridge;HP:0000463|Anteverted nares;HP:0100490|Camptodactyly of finger;HP:0000368|Low-set, posteriorly rotated ears;HP:0100559|Lower limb asymmetry;HP:0008551|Microtia;HP:0004397|Ectopic anus
lip, median nodule of upper	HP:0000153|Abnormal mouth
mental retardation with spastic paraplegia and palmoplantar hyperkeratosis	HP:0001348|Brisk reflexes;HP:0001258|Spastic paraplegia, lower limb;HP:0001761|Pes cavus;HP:0000218|Increased palatal height;HP:0000972|Thick palms and soles;HP:0001256|Mild mental retardation;HP:0001249|Mental retardation
hypogonadism-cataract syndrome	HP:0000518|Cataract;HP:0008232|Elevated follicle-stimulating hormone;HP:0000026|Decreased function of male gonad;HP:0000135|Hypogonadism;HP:0000789|Infertility
fibuloulnar aplasia or hypoplasia with renal abnormalities	HP:0001159|Webbed fingers or toes;HP:0002878|Respiratory failure;HP:0000377|Malformation of auricle;HP:0000107|Renal cyst;HP:0000347|Hypoplasia of mandible;HP:0000089|Small kidneys;HP:0001660|Common arterial trunk;HP:0003027|Mesomelia;HP:0003022|Short ulna;HP:0001629|Ventricular septal defects
cerebellar ataxia and ectodermal dysplasia	HP:0000968|Ectodermal dysplasia;HP:0001596|Hair loss;HP:0001006|Marked hypotrichosis;HP:0001251|Ataxia;HP:0006349|Agenesis of permanent dentition
hair defect with photosensitivity and mental retardation	HP:0000653|Hypotrichosis of eyelashes;HP:0000992|Skin photosensitivity;HP:0002208|Coarse hair texture;HP:0000535|Thin, sparse eyebrows;HP:0002299|Brittle hair;HP:0001249|Mental retardation
pterygium, antecubital	HP:0009760|Webbed elbow;HP:0005739|Posterior subluxation of radial head;HP:0001377|Restricted elbow extension;HP:0005829|Maldevelopment of radioulnar joint
scholte syndrome	HP:0001999|Facial dysmorphism;HP:0004279|Hypoplastic hands;HP:0002999|Dislocated kneecap;HP:0001367|Anomaly of the joints;HP:0002234|Early balding;HP:0001249|Mental retardation;HP:0000135|Hypogonadism
macdermot-winter syndrome	HP:0001250|Seizures;HP:0002236|Frontal upsweep of hair;HP:0000252|Small head circumference;HP:0001263|Developmental retardation;HP:0000050|Hypoplastic male external genitalia;HP:0002553|Highly arched eyebrow;HP:0000400|Large ears;HP:0000126|Hydronephrosis;HP:0000294|Low frontal hairline;HP:0100490|Camptodactyly of finger;HP:0001511|Prenatal onset growth retardation;HP:0002057|Protruding area between the eyebrows;HP:0000358|Ear, posterior angulation, increased;HP:0002119|Ventricular dilatation;HP:0006610|Wide intermamillary distance
cystic hamartoma of lung and kidney	HP:0002205|Recurrent respiratory infections;HP:0000822|Hypertension;HP:0000003|Multicystic kidney dysplasia;HP:0002206|Pulmonary fibrosis;HP:0002093|Respiratory insufficiency
gigantiform cementoma, familial	HP:0000692|Malpositioned teeth;HP:0012328|Cementoma;HP:0001571|Impacted teeth
ppoma	HP:0002239|Gastrointestinal hemorrhage;HP:0001438|Abnormality of the abdomen;HP:0100833|Neoplasm of the small intestine;HP:0002019|Constipation;HP:0001824|Weight loss;HP:0000845|Growth hormone excess;HP:0005214|Intestinal obstruction;HP:0001031|Subcutaneous lipoma;HP:0002014|Diarrhea;HP:0006723|Intestinal carcinoid;HP:0000837|Increased circulating gonadotropin level;HP:0002017|Nausea and vomiting;HP:0012334|Extrahepatic cholestasis;HP:0002574|Episodic abdominal pain;HP:0008200|Primary hyperparathyroidism;HP:0001541|Ascites;HP:0008256|Adrenocortical adenoma;HP:0001081|Cholelithiasis;HP:0001406|Intrahepatic cholestasis;HP:0002893|Pituitary adenoma;HP:0002240|Hepatomegaly;HP:0030144|Hypoactive bowel sounds;HP:0001578|Hypercortisolism;HP:0000820|Abnormality of the thyroid gland;HP:0003072|Hypercalcemia;HP:0004396|Poor appetite;HP:0001046|Intermittent jaundice;HP:0000870|Prolactin excess;HP:0002894|Neoplasm of the pancreas;HP:0030145|Lack of bowel sounds;HP:0002039|Anorexia;HP:0002897|Parathyroid adenoma
delayed membranous cranial ossification	HP:0011800|Midface retrusion;HP:0000582|Upslanted palpebral fissure;HP:0000457|Depressed nasal ridge;HP:0000269|Prominent occiput;HP:0002007|Frontal bossing;HP:0000369|Low-set ears;HP:0005280|Flat, nasal bridge;HP:0000316|Hypertelorism;HP:0000316|Increased distance between eye sockets;HP:0000494|Downward slanting palpebral fissures;HP:0002007|Frontal protruberance;HP:0004331|Decreased skull ossification
hyperostosis cranialis interna	HP:0005890|Excessive growth of inner surface of the skull bones;HP:0005746|Osteosclerosis of the base of the skull;HP:0010628|Facial palsy, unilateral or bilateral;HP:0004490|Hyperostosis of calvarial bones
larynx atresia	HP:0002093|Respiratory insufficiency;HP:0002564|Malformation of the heart and great vessels;HP:0004322|Short stature;HP:0001601|Laryngomalacia;HP:0001608|Abnormality of the voice;HP:0002205|Recurrent respiratory infections
hyper-beta-alaninemia	HP:0002643|Respiratory distress, neonatal;HP:0001250|Seizures;HP:0012556|High blood beta-alanine levels;HP:0001508|Weight faltering;HP:0001262|Somnolence;HP:0003166|Increased urinary taurine
amyotonia congenita	HP:0003202|Neurogenic muscle atrophy, especially in the lower limbs
kagami-ogata syndrome	HP:0009826|limb shortening;HP:0002240|Enlarged liver;HP:0002089|Hypoplastic lungs;HP:0000581|Blepharophimosis;HP:0001601|Laryngomalacia;HP:0000347|Hypoplasia of mandible;HP:0000463|Nostrils anteverted;HP:0001540|Diastasis recti;HP:0001629|Ventricular septal defects;HP:0001561|Hydramnios;HP:0002092|Pulmonary artery hypertension;HP:0001622|Premature delivery;HP:0002007|Frontal protruberance;HP:0001642|Pulmonic stenosis;HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0002751|Kyphoscoliosis;HP:0001263|Developmental retardation;HP:0000327|Maxillary micrognathia;HP:0001643|Persistent ductus arteriosus;HP:0012745|Decreased height of palpebral fissure;HP:0005280|Flat, nasal bridge;HP:0001539|Omphalocele;HP:0000023|Inguinal hernia;HP:0000890|Long collarbone;HP:0000883|Slender ribs;HP:0001744|Splenomegaly;HP:0001371|Flexion contractures of joints;HP:0100807|Long fingers;HP:0000278|Receding lower jaw;HP:0008551|Hypoplasia of the external ear;HP:0001631|Atria septal defect;HP:0002673|Coxa valga
polydactyly, preaxial i	HP:0005895|Radial deviation of thumb terminal phalanx;HP:0001177|Preaxial hand polydactyly
anodontia of permanent dentition	HP:0000674|Anodontia
cholestasis-pigmentary retinopathy-cleft palate syndrome	HP:0200065|Chorioretinal degeneration;HP:0002240|Enlarged liver;HP:0002904|High blood bilirubin levels;HP:0000581|Blepharophimosis;HP:0002910|Elevated transaminases;HP:0001629|Ventricular septal defects;HP:0030151|Cholangitis;HP:0001409|Portal hypertension;HP:0001680|Coarctation of aorta;HP:0000126|Hydronephrosis;HP:0000580|Pigmentary retinopathy;HP:0000204|Cleft upper lip;HP:0000071|Narrowing of the ureter;HP:0000175|Palatoschisis;HP:0000010|Frequent urinary tract infections;HP:0000148|Vaginal atresia;HP:0001643|Persistent ductus arteriosus;HP:0004415|Pulmonary artery stenosis;HP:0001508|Weight faltering;HP:0001744|Splenomegaly;HP:0000952|Yellow skin;HP:0000072|Megaureter;HP:0002566|Intestinal malrotation;HP:0001510|Growth deficiency;HP:0000076|Vesicoureteric reflux;HP:0000989|pruritis;HP:0001070|Mottled pigmentation;HP:0001655|Patent foramen ovale
papillary tumor of the pineal region	HP:0000639|Nystagmus;HP:0000492|Abnormality of the eyelid;HP:0100543|Cognitive impairment;HP:0000364|Hearing abnormality;HP:0002131|Episodic ataxia;HP:0002516|Increased intracranial pressure;HP:0002017|Nausea and vomiting;HP:0002354|Memory impairment;HP:0002922|Increased CSF protein;HP:0030531|Altitudinal visual field defect;HP:0002355|Difficulty walking;HP:0000651|Diplopia;HP:0000238|Hydrocephalus;HP:0002315|Headache
fryns hofkens fabry syndrome	HP:0002986|Bowed radii;HP:0005033|Distal shortening of ulna;HP:0005011|Upper limb brachymesomelia;HP:0006433|Radial longitudinal deficiency;HP:0002984|Hypoplastic radius;HP:0009487|Ulnar deviation of the hands
orofaciodigital syndrome ix	HP:0002100|Recurrent aspiration pneumonia;HP:0004322|Stature below 3rd percentile;HP:0001161|Polydactyly of the hand;HP:0000191|Supernumerary oral frenum;HP:0001263|Developmental retardation;HP:0000506|Telecanthus;HP:0005736|Short tibia;HP:0010566|Hamartoma;HP:0000486|Squint eyes;HP:0000218|Increased palatal height;HP:0000456|Bifid tip of nose;HP:0000455|Increased breadth of tip of nose;HP:0001056|Milia;HP:0005349|Hypoplasia of the epiglottis;HP:0000164|Abnormality of the teeth;HP:0000316|Increased distance between eye sockets;HP:0001770|Toe syndactyly;HP:0000175|Palatoschisis;HP:0000161|Central cleft upper lip
cataract anterior polar dominant	HP:0001134|Anterior polar cataract
ftdals1	HP:0002145|Frontotemporal dementia;HP:0002059|Degeneration of cerebrum;HP:0007308|Extrapyramidal dyskinesia;HP:0002186|Apraxia;HP:0000738|Sensory hallucination;HP:0000741|Apathy;HP:0002442|Dyscalculia;HP:0000746|Delusions;HP:0002385|Paraparesis;HP:0000716|Depression;HP:0003202|Neurogenic muscle atrophy, especially in the lower limbs;HP:0001324|Muscular weakness;HP:0001260|Dysarthric speech;HP:0001300|Parkinsonism;HP:0002171|Cerebral gliosis;HP:0007354|Amyotrophic lateral sclerosis;HP:0000605|Supranuclear gaze paralysis;HP:0002366|Lower motor neuron disease;HP:0002273|Tetraparesis;HP:0002529|Neuronal loss in central nervous system
sick sinus syndrome 2	HP:0011704|Sick sinus syndrome;HP:0001688|Sinus bradycardia;HP:0005110|Atrial fibrillation
lissencephaly 2	HP:0000340|Receding forehead;HP:0006891|Thick cerebral cortex;HP:0000426|Protruding bridge of nose;HP:0000252|Small head circumference;HP:0006818|Type I lissencephaly
episodic ataxia type 3	HP:0002018|Nausea;HP:0002321|Vertigo;HP:0002411|Myokymia;HP:0002315|Headaches;HP:0001324|Muscular weakness;HP:0000651|Diplopia;HP:0002013|Emesis;HP:0002131|Intermittent cerebellar ataxia;HP:0000360|Ringing in the ears
late-onset junctional epidermolysis bullosa	HP:0007455|Adermatoglyphia;HP:0008404|Nail dystrophy;HP:0008066|Abnormal blistering of the skin;HP:0001075|Atrophic scars;HP:0007410|Palmoplantar hyperhidrosis
autosomal recessive cerebelloparenchymal disorder type 3	HP:0000639|Nystagmus;HP:0000708|Behavioral abnormality;HP:0001251|Ataxia;HP:0001288|Gait disturbance;HP:0000518|Cataract;HP:0001107|Ocular albinism;HP:0008046|Abnormality of the retinal vasculature;HP:0002650|Scoliosis;HP:0011364|White hair;HP:0007513|Generalized hypopigmentation;HP:0000750|Delayed speech and language development;HP:0001252|Muscular hypotonia;HP:0002024|Malabsorption;HP:0001249|Intellectual disability
persistent placoid maculopathy	HP:0012508|Metamorphopsia;HP:0001103|Abnormality of the macula;HP:0000646|Amblyopia;HP:0011506|Choroidal neovascularization of the macula;HP:0007814|Salt and pepper retinopathy;HP:0010822|Scintillating scotoma;HP:0007663|Reduced visual acuity;HP:0007750|Hypoplasia of the fovea
syndactyly type 1	HP:0001770|Toe syndactyly;HP:0009773|Symphalangism affecting the phalanges of the hand;HP:0006101|Finger syndactyly
distal monosomy 17q	HP:0000160|Narrow mouth;HP:0005487|Prominent metopic ridge;HP:0004322|Short stature;HP:0000288|Abnormality of the philtrum;HP:0100555|Asymmetric growth;HP:0007477|Abnormal dermatoglyphics;HP:0010306|Short thorax;HP:0000582|Upslanted palpebral fissure;HP:0007598|Bilateral single transverse palmar creases;HP:0000316|Hypertelorism;HP:0001172|Abnormality of the thumb;HP:0001643|Patent ductus arteriosus;HP:0004097|Deviation of finger;HP:0003312|Abnormal form of the vertebral bodies;HP:0002093|Respiratory insufficiency;HP:0001163|Abnormality of the metacarpal bones;HP:0000252|Microcephaly;HP:0003272|Abnormality of the hip bone;HP:0001622|Premature birth;HP:0000648|Optic atrophy;HP:0002240|Hepatomegaly;HP:0010293|Aplasia/Hypoplasia of the uvula;HP:0100560|Upper limb asymmetry;HP:0200055|Small hand;HP:0000995|Melanocytic nevus;HP:0001626|Abnormality of the cardiovascular system;HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0000368|Low-set, posteriorly rotated ears;HP:0008551|Microtia;HP:0001671|Abnormality of the cardiac septa;HP:0002983|Micromelia
brachydactyly type a5	HP:0006101|Finger syndactyly;HP:0005048|Synostosis of carpal bones;HP:0001163|Abnormality of the metacarpal bones;HP:0009773|Symphalangism affecting the phalanges of the hand;HP:0011304|Broad thumb;HP:0005819|Short middle phalanx of finger;HP:0002164|Nail dysplasia;HP:0009606|Complete duplication of distal phalanx of the thumb;HP:0009623|Proximal placement of thumb;HP:0010059|Broad hallux phalanx
combined immunodeficiency due to crac channel dysfunction	HP:0000705|Amelogenesis imperfecta;HP:0002960|Autoimmunity;HP:0003198|Myopathy;HP:0001287|Meningitis;HP:0004429|Recurrent viral infections;HP:0007676|Hypoplasia of the iris;HP:0100806|Sepsis;HP:0002716|Lymphadenopathy;HP:0000970|Anhidrosis;HP:0001873|Thrombocytopenia;HP:0001878|Hemolytic anemia;HP:0002664|Neoplasm;HP:0000389|Chronic otitis media;HP:0001945|Fever;HP:0002240|Hepatomegaly;HP:0001744|Splenomegaly;HP:0002721|Immunodeficiency;HP:0002841|Recurrent fungal infections;HP:0011274|Recurrent mycobacterial infections;HP:0011084|Hypocalcification of dental enamel;HP:0002090|Pneumonia;HP:0001252|Muscular hypotonia;HP:0002718|Recurrent bacterial infections
idiopathic congenital hypothyroidism	HP:0001263|Global developmental delay;HP:0003270|Abdominal distention;HP:0000239|Large fontanelles;HP:0002019|Constipation;HP:0000158|Macroglossia;HP:0000280|Coarse facial features;HP:0001510|Growth delay;HP:0001252|Muscular hypotonia;HP:0000952|Jaundice;HP:0000821|Hypothyroidism;HP:0100786|Hypersomnia;HP:0000271|Abnormality of the face
encephalopathy due to sulfite oxidase deficiency	HP:0001250|Seizures;HP:0000490|Deeply set eye;HP:0001257|Spasticity;HP:0010864|Intellectual disability, severe;HP:0001083|Ectopia lentis;HP:0001251|Ataxia;HP:0004374|Hemiplegia/hemiparesis;HP:0003196|Short nose;HP:0000293|Full cheeks;HP:0000545|Myopia;HP:0000252|Microcephaly;HP:0000343|Long philtrum;HP:0003355|Aminoaciduria;HP:0002017|Nausea and vomiting;HP:0100022|Abnormality of movement;HP:0002376|Developmental regression;HP:0011220|Prominent forehead;HP:0002793|Abnormal pattern of respiration;HP:0001285|Spastic tetraparesis;HP:0012471|Thick vermilion border;HP:0008872|Feeding difficulties in infancy
homocystinuria without methylmalonic aciduria	HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0001250|Seizures;HP:0001251|Ataxia;HP:0002013|Vomiting;HP:0000505|Visual impairment;HP:0001254|Lethargy;HP:0000709|Psychosis;HP:0000726|Dementia;HP:0001508|Failure to thrive;HP:0001252|Muscular hypotonia;HP:0002120|Cerebral cortical atrophy;HP:0001980|Megaloblastic bone marrow
6p22 microdeletion syndrome	HP:0001256|Intellectual disability, mild;HP:0000286|Epicanthus;HP:0000078|Abnormality of the genital system;HP:0000470|Short neck;HP:0000490|Deeply set eye;HP:0006101|Finger syndactyly;HP:0001582|Redundant skin;HP:0000126|Hydronephrosis;HP:0000369|Low-set ears;HP:0000486|Strabismus;HP:0000365|Hearing impairment;HP:0001643|Patent ductus arteriosus;HP:0000601|Hypotelorism;HP:0000929|Abnormality of the skull;HP:0012639|Abnormality of nervous system morphology;HP:0000174|Abnormality of the palate;HP:0001252|Muscular hypotonia;HP:0030084|Clinodactyly;HP:0000238|Hydrocephalus;HP:0100790|Hernia;HP:0000396|Overfolded helix
19p13.12 microdeletion syndrome	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0000470|Short neck;HP:0000520|Proptosis;HP:0006191|Deep palmar crease;HP:0100716|Self-injurious behavior;HP:0002079|Hypoplasia of the corpus callosum;HP:0000826|Precocious puberty;HP:0001629|Ventricular septal defect;HP:0000545|Myopia;HP:0002119|Ventriculomegaly;HP:0000248|Brachycephaly;HP:0001659|Aortic regurgitation;HP:0000233|Thin vermilion border;HP:0000337|Broad forehead;HP:0001631|Atrial septal defect;HP:0000750|Delayed speech and language development;HP:0000752|Hyperactivity;HP:0000047|Hypospadias;HP:0001653|Mitral regurgitation;HP:0006101|Finger syndactyly;HP:0000369|Low-set ears;HP:0000486|Strabismus;HP:0006817|Aplasia/Hypoplasia of the cerebellar vermis;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0000668|Hypodontia;HP:0001852|Sandal gap;HP:0001511|Intrauterine growth retardation;HP:0004279|Short palm;HP:0000407|Sensorineural hearing impairment;HP:0001869|Deep plantar creases;HP:0002804|Arthrogryposis multiplex congenita;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0011675|Arrhythmia;HP:0001863|Toe clinodactyly;HP:0003077|Hyperlipidemia;HP:0000664|Synophrys;HP:0002808|Kyphosis;HP:0002230|Generalized hirsutism;HP:0001397|Hepatic steatosis;HP:0004209|Clinodactyly of the 5th finger;HP:0000405|Conductive hearing impairment;HP:0001363|Craniosynostosis;HP:0001513|Obesity;HP:0000463|Anteverted nares;HP:0001252|Muscular hypotonia;HP:0000446|Narrow nasal bridge;HP:0008572|External ear malformation;HP:0000821|Hypothyroidism
autosomal recessive spastic paraplegia type 11	HP:0000639|Nystagmus;HP:0001250|Seizures;HP:0001251|Ataxia;HP:0001258|Spastic paraplegia;HP:0001288|Gait disturbance;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0001347|Hyperreflexia;HP:0001268|Mental deterioration;HP:0002119|Ventriculomegaly;HP:0009830|Peripheral neuropathy;HP:0002120|Cerebral cortical atrophy;HP:0001315|Reduced tendon reflexes;HP:0001152|Saccadic smooth pursuit;HP:0001260|Dysarthria;HP:0001249|Intellectual disability
congenital primary megaureter	HP:0008676|Congenital megaureter;HP:0000787|Nephrolithiasis;HP:0000126|Hydronephrosis;HP:0002027|Abdominal pain;HP:0001945|Fever;HP:0000036|Abnormality of the penis;HP:0010935|Abnormality of the upper urinary tract;HP:0002907|Microscopic hematuria;HP:0000010|Recurrent urinary tract infections;HP:0000076|Vesicoureteral reflux
primary unilateral adrenal hyperplasia	HP:0001962|Palpitations;HP:0008221|Adrenal hyperplasia;HP:0000421|Epistaxis;HP:0011740|Glucocortocoid-insensitive primary hyperaldosteronism;HP:0002018|Nausea;HP:0003081|Increased urinary potassium;HP:0002900|Hypokalemia;HP:0001324|Muscle weakness;HP:0000822|Hypertension;HP:0003394|Muscle cramps;HP:0200114|Metabolic alkalosis;HP:0000360|Tinnitus;HP:0002315|Headache;HP:0003351|Decreased circulating renin level;HP:0001959|Polydipsia
16p13.11 microduplication syndrome	HP:0001263|Global developmental delay;HP:0000717|Autism;HP:0001363|Craniosynostosis;HP:0001680|Coarctation of aorta;HP:0100753|Schizophrenia;HP:0001629|Ventricular septal defect;HP:0001669|Transposition of the great arteries;HP:0001166|Arachnodactyly;HP:0005692|Joint hyperflexibility;HP:0001763|Pes planus;HP:0001636|Tetralogy of Fallot;HP:0001161|Hand polydactyly;HP:0007018|Attention deficit hyperactivity disorder;HP:0000718|Aggressive behavior;HP:0000268|Dolichocephaly;HP:0000767|Pectus excavatum;HP:0001631|Atrial septal defect;HP:0002463|Language impairment;HP:0001249|Intellectual disability
indomethacin embryofetopathy	HP:0001789|Hydrops fetalis;HP:0000003|Multicystic kidney dysplasia;HP:0002093|Respiratory insufficiency;HP:0001928|Abnormality of coagulation;HP:0001629|Ventricular septal defect;HP:0001562|Oligohydramnios;HP:0000112|Nephropathy;HP:0001622|Premature birth;HP:0001631|Atrial septal defect;HP:0000091|Abnormality of the renal tubule;HP:0001638|Cardiomyopathy;HP:0000083|Renal insufficiency
distal monosomy 10p	HP:0000028|Cryptorchidism;HP:0000470|Short neck;HP:0002023|Anal atresia;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0008736|Hypoplasia of penis;HP:0007598|Bilateral single transverse palmar creases;HP:0000347|Micrognathia;HP:0002564|Malformation of the heart and great vessels;HP:0000486|Strabismus;HP:0000465|Webbed neck;HP:0000316|Hypertelorism;HP:0001511|Intrauterine growth retardation;HP:0011344|Severe global developmental delay;HP:0000147|Polycystic ovaries;HP:0100335|Non-midline cleft lip;HP:0000494|Downslanted palpebral fissures;HP:0000175|Cleft palate;HP:0000252|Microcephaly;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0009811|Abnormality of the elbow;HP:0001249|Intellectual disability;HP:0001800|Hypoplastic toenails;HP:0001387|Joint stiffness;HP:0000364|Hearing abnormality;HP:0000444|Convex nasal ridge;HP:0000400|Macrotia;HP:0000368|Low-set, posteriorly rotated ears;HP:0001231|Abnormality of the fingernails;HP:0004397|Ectopic anus
robinow-like syndrome	HP:0012815|Hypoplastic female external genitalia;HP:0000256|Macrocephaly;HP:0002007|Frontal bossing;HP:0003196|Short nose;HP:0004322|Short stature;HP:0000316|Hypertelorism;HP:0005280|Depressed nasal bridge;HP:0000238|Hydrocephalus;HP:0000558|Rieger anomaly
progressive non-infectious anterior vertebral fusion	HP:0003306|Spinal rigidity;HP:0002653|Bone pain;HP:0000248|Brachycephaly;HP:0001176|Large hands;HP:0000233|Thin vermilion border;HP:0002011|Morphological abnormality of the central nervous system;HP:0005280|Depressed nasal bridge;HP:0002937|Hemivertebrae;HP:0000098|Tall stature;HP:0000347|Micrognathia;HP:0000154|Wide mouth;HP:0012368|Flat face;HP:0000316|Hypertelorism;HP:0005108|Abnormality of the intervertebral disk;HP:0000494|Downslanted palpebral fissures;HP:0000925|Abnormality of the vertebral column;HP:0002650|Scoliosis;HP:0003363|Abdominal situs inversus;HP:0001999|Abnormal facial shape;HP:0002808|Kyphosis;HP:0000431|Wide nasal bridge;HP:0000311|Round face;HP:0000322|Short philtrum;HP:0001387|Joint stiffness;HP:0100777|Exostoses;HP:0005037|Proximal radio-ulnar synostosis;HP:0001072|Thickened skin
lethal recessive chondrodysplasia	HP:0005789|Generalized osteosclerosis;HP:0009826|Limb undergrowth;HP:0000347|Micrognathia;HP:0003950|Flared metaphyses (elbow);HP:0000969|Edema;HP:0000158|Macroglossia;HP:0000774|Narrow chest;HP:0002098|Respiratory distress;HP:0003026|Short long bone;HP:0005616|Accelerated skeletal maturation;HP:0001561|Polyhydramnios
fetal parvovirus syndrome	HP:0000504|Abnormality of vision;HP:0001873|Thrombocytopenia;HP:0010880|Increased nuchal translucency;HP:0001639|Hypertrophic cardiomyopathy;HP:0001511|Intrauterine growth retardation;HP:0001541|Ascites;HP:0001903|Anemia;HP:0000478|Abnormality of the eye;HP:0001789|Hydrops fetalis
adult intestinal botulism	HP:0002094|Dyspnea;HP:0001324|Muscle weakness;HP:0002014|Diarrhea;HP:0100021|Cerebral palsy;HP:0002747|Respiratory insufficiency due to muscle weakness;HP:0006597|Diaphragmatic paralysis;HP:0006824|Cranial nerve paralysis;HP:0000651|Diplopia;HP:0000508|Ptosis
acro-renal-mandibular syndrome	HP:0003316|Butterfly vertebrae;HP:0000470|Short neck;HP:0002089|Pulmonary hypoplasia;HP:0001562|Oligohydramnios;HP:0002575|Tracheoesophageal fistula;HP:0000218|High palate;HP:0000912|Sprengel anomaly;HP:0010295|Aplasia/Hypoplasia of the tongue;HP:0002937|Hemivertebrae;HP:0008678|Renal hypoplasia/aplasia;HP:0001171|Split hand;HP:0000347|Micrognathia;HP:0006101|Finger syndactyly;HP:0002101|Abnormal lung lobation;HP:0000883|Thin ribs;HP:0001511|Intrauterine growth retardation;HP:0004408|Abnormality of the sense of smell;HP:0000494|Downslanted palpebral fissures;HP:0003022|Hypoplasia of the ulna;HP:0000889|Abnormality of the clavicle;HP:0006426|Rudimentary to absent tibiae;HP:0002984|Hypoplasia of the radius;HP:0000275|Narrow face;HP:0002650|Scoliosis;HP:0003762|Uterus didelphys;HP:0000813|Bicornuate uterus;HP:0002808|Kyphosis;HP:0000202|Oral cleft;HP:0000322|Short philtrum;HP:0006381|Rudimentary fibula;HP:0002827|Hip dislocation;HP:0000368|Low-set, posteriorly rotated ears;HP:0001839|Split foot;HP:0000768|Pectus carinatum;HP:0000882|Hypoplastic scapulae;HP:0010669|Cheekbone underdevelopment;HP:0000776|Congenital diaphragmatic hernia
amelo-onycho-hypohidrotic syndrome	HP:0001806|Oncholysis;HP:0006291|Very late eruption of adult teeth;HP:0001051|Seborrheic dermatitis;HP:0000958|Xerosis;HP:0001595|Hair abnormality;HP:0000966|Decreased sweating;HP:0000682|Enamel abnormality
x-linked spinocerebellar ataxia type 3	HP:0001263|Global developmental delay;HP:0001251|Ataxia;HP:0001252|Muscular hypotonia;HP:0000648|Optic atrophy;HP:0000407|Sensorineural hearing impairment;HP:0000565|Esotropia
orofaciodigital syndrome type 10	HP:0001177|Preaxial hand polydactyly;HP:0005802|Coalescence of tarsal bones;HP:0000506|Telecanthus;HP:0005280|Flat, nasal bridge;HP:0001180|Hand oligodactyly;HP:0000278|Receding lower jaw;HP:0002990|Absent calf bone;HP:0000175|Palatoschisis
blepharophimosis-intellectual disability syndrome, sbbys type	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0000581|Blepharophimosis;HP:0001629|Ventricular septal defect;HP:0004426|Abnormality of the cheek;HP:0012745|Short palpebral fissure;HP:0003189|Long nose;HP:0000358|Posteriorly rotated ears;HP:0005990|Thyroid hypoplasia;HP:0001631|Atrial septal defect;HP:0002205|Recurrent respiratory infections;HP:0007598|Bilateral single transverse palmar creases;HP:0000347|Micrognathia;HP:0000369|Low-set ears;HP:0000193|Bifid uvula;HP:0005692|Joint hyperflexibility;HP:0001643|Patent ductus arteriosus;HP:0001561|Polyhydramnios;HP:0008191|Thyroid agenesis;HP:0100028|Ectopic thyroid;HP:0001249|Mental retardation;HP:0001510|Growth delay;HP:0011968|Feeding difficulties;HP:0001250|Seizures;HP:0009738|Abnormality of the antihelix;HP:0000252|Microcephaly;HP:0001508|Failure to thrive;HP:0000448|Prominent nose;HP:0004209|Clinodactyly of the 5th finger;HP:0001249|Intellectual disability;HP:0000278|Retrognathia;HP:0008188|Thyroid dysgenesis;HP:0000269|Prominent occiput;HP:0003510|Severe short stature;HP:0001328|Specific learning disability;HP:0006695|Atrioventricular canal defect;HP:0100490|Camptodactyly of finger;HP:0000614|Abnormality of the nasolacrimal system;HP:0100648|Neoplasm of the tongue;HP:0001252|Muscular hypotonia;HP:0000414|Bulbous nose;HP:0000821|Hypothyroidism;HP:0000176|Submucous cleft hard palate;HP:0000340|Sloping forehead
griscelli syndrome, type 1	HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0001263|Developmental retardation;HP:0002218|Silver-gray hair color;HP:0001010|Hypopigmentation of the skin;HP:0002220|Melanin pigment aggregation in hair shafts;HP:0001249|Mental retardation;HP:0001008|Accumulation of melanosomes in melanocytes
iridogoniodysgenesis, type 2	HP:0000501|Glaucoma;HP:0007990|Underdeveloped iris stroma;HP:0000164|Abnormality of the teeth;HP:0001999|Facial dysmorphism;HP:0007730|Iris hypopigmentation
xeroderma pigmentosum, group b	HP:0004334|Atrophic skin;HP:0002135|Basal ganglia calcification;HP:0000518|Cataract;HP:0001480|Freckling;HP:0000648|Optic-nerve degeneration;HP:0000135|Hypogonadism;HP:0004322|Stature below 3rd percentile;HP:0011400|Abnormal CNS myelination;HP:0001251|Ataxia;HP:0012056|Cutaneous melanoma;HP:0006739|Squamous cell carcinoma of the skin;HP:0000580|Pigmentary retinopathy;HP:0003224|Increased cellular sensitivity to UV light;HP:0001249|Mental retardation;HP:0000762|Decreased NCV;HP:0000992|Skin photosensitivity;HP:0000252|Small head circumference;HP:0005328|Aged facial appearance;HP:0001347|Hyperreflexia;HP:0001272|Cerebellar atrophy;HP:0000568|Abnormally small globe of eye;HP:0000407|sensorineural hearing loss;HP:0002119|Ventricular dilatation;HP:0002671|Basalioma
bullous dystrophy, hereditary macular type	HP:0001597|Abnormality of the nail;HP:0000252|Small head circumference;HP:0007418|Alopecia totalis;HP:0009381|Hypoplastic fingers;HP:0001182|Tapered finger;HP:0001063|Acrocyanosis;HP:0003510|Proportionate dwarfism;HP:0000953|Hyperpigmentation of the skin;HP:0001249|Mental retardation
chromosome 19q13.11 deletion syndrome	HP:0000028|Cryptorchidism;HP:0000347|Hypoplasia of mandible;HP:0000233|Decreased volume of lip vermillion;HP:0002164|Nail dysplasia;HP:0000430|Nasal cartilage hypoplasia;HP:0000047|Hypospadias;HP:0003758|Reduced subcutaneous fat;HP:0004322|Stature below 3rd percentile;HP:0004209|Clinodactyly of fifth digit;HP:0000958|Xerosis;HP:0008897|Growth retardation as children;HP:0000369|Low-set ears;HP:0000276|Long face;HP:0000535|Thin, sparse eyebrows;HP:0001845|Overriding toes;HP:0001249|Mental retardation;HP:0008872|Feeding difficulties in infancy;HP:0000252|Small head circumference;HP:0001263|Developmental retardation;HP:0000400|Large ears;HP:0001508|Weight faltering;HP:0001511|Prenatal onset growth retardation;HP:0006610|Wide intermamillary distance;HP:0000653|Hypotrichosis of eyelashes;HP:0001195|Single umbilical artery;HP:0010554|Cutaneous syndactyly of hands;HP:0000348|High forehead;HP:0000278|Receding lower jaw
hypertelorism, teebi type	HP:0000028|Cryptorchidism;HP:0000520|Proptosis;HP:0011039|Abnormality of the helix;HP:0002553|Highly arched eyebrow;HP:0003196|Short nose;HP:0010751|Chin dimple;HP:0001629|Ventricular septal defect;HP:0000248|Brachycephaly;HP:0000233|Thin vermilion border;HP:0006288|Advanced eruption of teeth;HP:0000232|Everted lower lip vermilion;HP:0000767|Pectus excavatum;HP:0000508|Ptosis;HP:0001631|Atrial septal defect;HP:0001156|Brachydactyly syndrome;HP:0000086|Ectopic kidney;HP:0006101|Finger syndactyly;HP:0001537|Umbilical hernia;HP:0000369|Low-set ears;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0001643|Patent ductus arteriosus;HP:0001636|Tetralogy of Fallot;HP:0000049|Shawl scrotum;HP:0000574|Thick eyebrow;HP:0004467|Preauricular pit;HP:0000494|Downslanted palpebral fissures;HP:0001831|Short toe;HP:0000349|Widow's peak;HP:0011675|Arrhythmia;HP:0001539|Omphalocele;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0000311|Round face;HP:0000202|Oral cleft;HP:0000426|Prominent nasal bridge;HP:0010458|Female pseudohermaphroditism;HP:0011220|Prominent forehead
microcephaly, autosomal dominant	HP:0000666|Horizontal nystagmus;HP:0004322|Stature below 3rd percentile;HP:0000252|Small head circumference;HP:0001137|Alternating esotropia;HP:0000411|Prominent ears;HP:0000582|Upward slanting of palpebral fissures;HP:0010055|Abnormally broad great toes;HP:0011094|Increased overlap of upper and lower incisors;HP:0000340|Receding forehead;HP:0011304|Wide/broad thumb;HP:0000601|Closely spaced eyes
deafness, sensorineural, with pituitary dwarfism	HP:0008213|Pituitary gonadotropin deficiency;HP:0001249|Mental retardation;HP:0004322|Stature below 3rd percentile;HP:0000839|Pituitary dwarfism;HP:0000407|sensorineural hearing loss;HP:0000824|Growth hormone deficiency;HP:0010627|Anterior pituitary hypoplasia;HP:0000470|Decreased cervical height
charcot-marie-tooth disease, x-linked recessive, 2	HP:0003376|'steppage' gait;HP:0003484|Upper limb muscle weakness;HP:0003431|Decreased motor nerve conduction velocities;HP:0003693|Muscle atrophy, distal;HP:0002936|Decreased distal sensation;HP:0001761|Pes cavus;HP:0003482|EMG: axonal abnormality;HP:0001284|Areflexia;HP:0002460|Weakness of distal muscles;HP:0009027|Foot drop;HP:0001249|Mental retardation
charcot-marie-tooth disease, x-linked recessive, 3	HP:0003376|'steppage' gait;HP:0003484|Upper limb muscle weakness;HP:0003693|Muscle atrophy, distal;HP:0002936|Decreased distal sensation;HP:0001761|Pes cavus;HP:0003482|EMG: axonal abnormality;HP:0001284|Areflexia;HP:0002460|Weakness of distal muscles;HP:0009027|Foot drop;HP:0000762|Decreased NCV
microphthalmia, syndromic 4	HP:0000924|Abnormality of the skeletal system;HP:0009755|Eyelid synechiae;HP:0000568|Abnormally small globe of eye;HP:0000175|Palatoschisis;HP:0000384|Preauricular skin tag;HP:0001249|Mental retardation
macrothrombocytopenia, autosomal dominant, tubb1-related	HP:0040185|Macrothrombocytopenia
mental retardation, x-linked, syndromic 11	HP:0000053|Macroorchidism;HP:0001513|Obesity;HP:0002342|Intellectual disability, moderate;HP:0000400|Large ears;HP:0000581|Blepharophimosis;HP:0000336|Prominent supraorbital ridges;HP:0000414|Bulbous nose;HP:0001328|Specific learning disability;HP:0000280|Coarse facial features;HP:0000179|Plump lower lip;HP:0000629|Periorbital puffiness
congenital disorder of glycosylation, type iid	HP:0001252|Hypotonia;HP:0003198|Myopathic changes;HP:0001305|Dandy-Walker cyst;HP:0001263|Developmental retardation;HP:0003236|Elevated creatine kinase;HP:0000256|Macrocrania;HP:0001928|Abnormal blood coagulation studies
torticollis, keloids, cryptorchidism, and renal dysplasia	HP:0000028|Cryptorchidism;HP:0000324|Asymmetry of face;HP:0000110|Renal dysplasia;HP:0000473|Spasmodic torticollis;HP:0010562|Keloids;HP:0000123|Nephritis;HP:0008717|Unilateral kidney wasting;HP:0000798|Oligospermia;HP:0000995|Beauty mark;HP:0002619|Varicose veins
epidermolysis bullosa simplex, autosomal recessive	HP:0001805|Thick nail;HP:0001807|Grooved nails
ichthyosis hystrix, curth-macklin type	HP:0001939|Laboratory abnormality;HP:0008064|Ichthyosis
lipodystrophy, familial partial, type 1	HP:0000991|Xanthomata;HP:0000287|Increased amount of facial fat;HP:0002155|Increased triglycerides;HP:0002240|Enlarged liver;HP:0009003|Increased subcutaneous truncal adipose tissue;HP:0003011|Abnormality of the musculature;HP:0001015|Prominent superficial veins;HP:0001735|Acute pancreatitis;HP:0009017|Loss of fat tissue below the skin in gluts;HP:0000956|Keratosis nigricans;HP:0000468|Increased adipose tissue around the neck;HP:0000822|Hypertension;HP:0003074|High blood glucose;HP:0009125|Lipodystrophy;HP:0000831|Insulin-resistant diabetes mellitus;HP:0003635|Loss of subcutaneous adipose tissue from extremities;HP:0001677|Coronary artery disease
thyroid hormone resistance, selective pituitary	HP:0000836|Overactive thyroid;HP:0002930|Resistance to thyroid hormone;HP:0002925|Increased serum thyroid-stimulating hormone
fibrosis of extraocular muscles, congenital, 1	HP:0007936|Restrictive external ophthalmoplegia;HP:0000577|Exotropia;HP:0001491|Congenital fibrosis of the extraocular muscles;HP:0012242|Superior rectus atrophy;HP:0001488|Bilateral ptosis;HP:0000565|Inward turning of one or both eyes;HP:0012241|Levator palpebrae superioris atrophy;HP:0001477|Compensatory chin elevation
amelogenesis imperfecta, type iv	HP:0000705|Amelogenesis imperfecta;HP:0000679|Taurodont
ceroid lipofuscinosis, neuronal, 2	HP:0000750|Late-onset speech development;HP:0001250|Seizures;HP:0002059|Degeneration of cerebrum;HP:0001251|Ataxia;HP:0000529|Slowly progressive visual loss;HP:0002074|Increased neuronal autofluorescent lipopigment;HP:0000550|Absent electroretinogram;HP:0003463|Increased extraneuronal autofluorescent lipopigment;HP:0001311|Neurophysiologic abnormalities;HP:0002376|Loss of developmental milestones;HP:0000546|Retinal degeneration;HP:0003205|'curvilinear profiles' ultrastructurally;HP:0001336|Myoclonic jerks
muscular dystrophy, limb-girdle, type 2l	HP:0003701|Proximal limb muscle weakness;HP:0003560|Muscular dystrophy;HP:0003236|Elevated creatine kinase;HP:0008981|Increased size of calf muscles;HP:0003749|Hip girdle muscle weakness;HP:0003547|Muscle weakness, shoulder-girdle;HP:0003458|EMG: myopathic abnormalities;HP:0010628|Facial palsy, unilateral or bilateral;HP:0003326|Muscle pain
polymicrogyria, bilateral frontoparietal	HP:0000639|Nystagmus;HP:0001250|Seizures;HP:0001263|Developmental retardation;HP:0000577|Exotropia;HP:0001347|Hyperreflexia;HP:0001321|Small cerebellum;HP:0007266|Areas of dysmyelination on MRI;HP:0002136|Wide-based gait;HP:0003487|Extensor plantar reflexes;HP:0000565|Inward turning of one or both eyes;HP:0002365|Hypoplasia of the brainstem;HP:0007095|Frontoparietal polymicrogyria;HP:0002078|Truncal ataxia;HP:0006821|Polymicrogyria, anterior to posterior gradient;HP:0001276|Hypertonia;HP:0001249|Mental retardation;HP:0011448|Ankle clonus
ceroid lipofuscinosis, neuronal, 1	HP:0000253|Microcephaly, postnatal, progressive;HP:0000738|Sensory hallucination;HP:0001336|Myoclonic jerks;HP:0000648|Optic-nerve degeneration;HP:0001257|Spasticity;HP:0002059|Degeneration of cerebrum;HP:0005484|Acquired microcephaly;HP:0000618|Blindness;HP:0001939|Laboratory abnormality;HP:0002074|Increased neuronal autofluorescent lipopigment;HP:0000529|Slowly progressive visual loss;HP:0001251|Ataxia;HP:0002371|Loss of speech;HP:0001249|Mental retardation;HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0001263|Developmental retardation;HP:0002353|Abnormal EEG;HP:0000550|Absent electroretinogram;HP:0000654|Decreased electroretinogram response;HP:0002360|Sleep disturbance;HP:0001371|Flexion contractures of joints;HP:0000716|Depression;HP:0002361|Psychomotor degeneration;HP:0000608|Macular degeneration;HP:0000737|Irritability;HP:0000546|Retinal degeneration
dentinogenesis imperfecta, shields type iii	HP:0000703|Dentinogenesis imperfecta;HP:0000700|Periapical radiolucency;HP:0000694|Shell teeth
carcinoid tumors, intestinal	HP:0006723|Intestinal carcinoid
albinism, oculocutaneous, type iii	HP:0002297|Red hair;HP:0000639|Nystagmus;HP:0000486|Squint eyes;HP:0001022|Achromasia;HP:0007443|Partial absent skin pigmentation
microcephaly 1, primary, autosomal recessive	HP:0001250|Seizures;HP:0004322|Stature below 3rd percentile;HP:0000252|Small head circumference;HP:0003451|Increased rate of premature chromosome condensation;HP:0002472|Decreased volume of cerebral cortex;HP:0001249|Mental retardation
amelogenesis imperfecta, type ib	HP:0000705|Amelogenesis imperfecta
microcephalic osteodysplastic primordial dwarfism, type i	HP:0000028|Cryptorchidism;HP:0003042|Radiocapitellar dislocation;HP:0001176|large hand;HP:0010049|Metacarpal hypoplasia;HP:0002209|Scalp hair, thinning;HP:0002980|Bowed femura;HP:0000347|Hypoplasia of mandible;HP:0000878|11 pairs of ribs;HP:0003097|Short femur;HP:0000089|Small kidneys;HP:0003498|Disproportionate short stature;HP:0001562|Oligohydramnios;HP:0006579|Neonatal jaundice;HP:0001274|Absent corpus callosum;HP:0006400|Absent knee end part;HP:0000470|Decreased cervical height;HP:0000954|Simian creases;HP:0007333|Hypoplastic frontal lobes;HP:0000958|Xerosis;HP:0002983|Micromelia;HP:0000369|Low-set ears;HP:0001680|Coarctation of aorta;HP:0000107|Renal cyst;HP:0000377|Malformation of auricle;HP:0001302|Cerebral pachygyria;HP:0001636|Tetrology of fallot;HP:0000535|Thin, sparse eyebrows;HP:0000237|Small anterior fontanel;HP:0006380|Contractures of knees;HP:0001249|Mental retardation;HP:0002282|Heterotopias;HP:0001631|Atria septal defect;HP:0000962|Hyperkeratosis;HP:0001250|Seizures;HP:0000252|Small head circumference;HP:0000269|Protruding occiput;HP:0004616|Cleft vertebral arch;HP:0002750|Delayed bone maturation;HP:0003044|Shoulder flexion contracture;HP:0001508|Weight faltering;HP:0000340|Receding forehead;HP:0001511|Prenatal onset growth retardation;HP:0000926|Flattened vertebral bodies;HP:0000890|Long collarbone;HP:0000653|Hypotrichosis of eyelashes;HP:0002987|Elbow contracture;HP:0000946|Small iliac bones;HP:0000520|Anterior bulging of the globe of eye;HP:0000448|Big nose;HP:0001833|large feet;HP:0003273|Flexion contracture of hips;HP:0003051|Enlarged wide portion of a long bone;HP:0002827|Hip dislocation;HP:0005792|Short upper arms;HP:0003865|Humeral bowing;HP:0002335|Agenesis of cerebellar vermis;HP:0000054|Short penis;HP:0008551|Hypoplasia of the external ear;HP:0001156|Brachydactyly
epidermolysis bullosa, junctional, non-herlitz type	HP:0007556|Plantar hyperkeratoses;HP:0000670|Dental caries;HP:0001808|Brittle nails;HP:0100490|Camptodactyly of finger;HP:0200097|Bullae of oral mucosa;HP:0002164|Nail dysplasia;HP:0008404|Dystrophic nails;HP:0006089|Palmar hyperhidrosis;HP:0000668|Failure of development of between one and six teeth
epiphyseal dysplasia, multiple, 4	HP:0010049|Metacarpal hypoplasia;HP:0001385|Congenital hip dysplasia;HP:0004322|Stature below 3rd percentile;HP:0003370|Flat capital femoral epiphyses;HP:0002654|Multiple epiphyseal dysplasia;HP:0006376|Limited elbow flexion;HP:0001762|Talipes equinovarus;HP:0002656|Epiphyseal dysplasia;HP:0002650|Scoliosis;HP:0008802|Small head of thigh bone;HP:0001156|Brachydactyly;HP:0002829|Arthralgias
mental retardation, x-linked, snyder-robinson type	HP:0000028|Cryptorchidism;HP:0000767|Funnel chest;HP:0001847|Large halluces;HP:0001611|Hypernasal speech;HP:0000465|Pterygium colli;HP:0002136|Wide-based gait;HP:0000316|Increased distance between eye sockets;HP:0000678|Dental crowding;HP:0004322|Stature below 3rd percentile;HP:0011003|High myopia;HP:0000377|Malformation of auricle;HP:0001762|Talipes equinovarus;HP:0004283|Narrow palm;HP:0000179|Plump lower lip;HP:0000175|Palatoschisis;HP:0001249|Mental retardation;HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0000324|Asymmetry of face;HP:0003199|Decreased muscle mass;HP:0002751|Kyphoscoliosis;HP:0000939|Osteoporosis;HP:0011302|Long palm;HP:0002757|Multiple fractures;HP:0001187|Finger joint hyperextensibility;HP:0006610|Wide intermamillary distance;HP:0002705|High, narrow palate;HP:0000322|Short philtrum;HP:0000303|Increased size of lower jaw;HP:0000098|Increased body height;HP:0000193|Uvula bifida;HP:0100807|Long fingers;HP:0001260|Dysarthric speech;HP:0000768|Pectus carinatum
corneal dystrophy, groenouw type i	HP:0000518|Cataract;HP:0000486|Squint eyes;HP:0007809|Punctate corneal dystrophy;HP:0007802|Granular corneal dystrophy;HP:0007827|Nodular corneal dystrophy
neuropathy, congenital hypomyelinating	HP:0003484|Upper limb muscle weakness;HP:0003431|Decreased motor nerve conduction velocities;HP:0003693|Muscle atrophy, distal;HP:0007182|Peripheral hypomyelination;HP:0001291|Cranial nerve disease;HP:0001284|Areflexia;HP:0002460|Weakness of distal muscles;HP:0001319|Hypotonia, in neonatal onset;HP:0009830|Peripheral neuritis;HP:0001270|Motor retardation;HP:0003383|'Onion bulb' formations
hypocalcemia, autosomal dominant	HP:0001250|Seizures;HP:0000829|Hypoparathyroidism;HP:0001281|Tetany;HP:0002905|Hyperphosphatemia;HP:0000518|Cataract;HP:0002901|Hypocalcemia;HP:0002514|Intracranial calcifications
macular dystrophy, retinal, 2	HP:0007793|Granular macular appearance;HP:0007641|Dyschromatopsia;HP:0007663|Central visual loss;HP:0000603|Central scotomata;HP:0007754|Macular dystrophy;HP:0007722|Retinal pigment epithelial atrophy;HP:0030629|Perifoveal ring of hyperautofluorescence
dentinogenesis imperfecta, shields type ii	HP:0000703|Dentinogenesis imperfecta
focal facial dermal dysplasia 3, setleis type	HP:0000968|Ectodermal dysplasia;HP:0002023|Anal atresia;HP:0005280|Flat, nasal bridge;HP:0000414|Bulbous nose;HP:0000561|Absent eyelashes;HP:0008509|Aged leonine appearance;HP:0000629|Periorbital puffiness;HP:0008496|Multiple rows of eyelashes
osteogenesis imperfecta, type iv	HP:0000362|Otosclerosis;HP:0004322|Stature below 3rd percentile;HP:0002808|Gibbus deformity;HP:0003023|Bowed limbs due to multiple fractures;HP:0002645|Extra bones within cranial sutures;HP:0002650|Scoliosis;HP:0003321|Biconcave flattened vertebrae;HP:0000365|Hearing impairment;HP:0002757|Multiple fractures;HP:0000592|Bluish sclerae;HP:0004349|Reduced bone mineral density;HP:0000703|Dentinogenesis imperfecta;HP:0005005|Bowing of thighbone at birth, straightening with time
myopathy with lactic acidosis, hereditary	HP:0008314|Decreased activity of mitochondrial complex II;HP:0001962|Palpitations;HP:0003198|Myopathic changes;HP:0002094|Dyspnea;HP:0008306|Abnormal iron deposition in mitochondria;HP:0003236|Elevated creatine kinase;HP:0011924|Decreased activity of mitochondrial complex III;HP:0003201|Rhabdomyolysis;HP:0003128|Lactic acidosis;HP:0011923|Decreased activity of mitochondrial complex I;HP:0001924|Hypersideremic anemia;HP:0012240|Increased intramyocellular lipid droplets;HP:0001324|Muscular weakness;HP:0003737|Mitochondrial myopathy;HP:0003394|Muscle cramps;HP:0003546|Exercise intolerance;HP:0002913|Myoglobinuria;HP:0002151|Increased serum lactate;HP:0003548|Subsarcolemmal accumulations of abnormally shaped mitochondria
sleep apnea, central	HP:0010535|Sleep apnea
infantile convulsions and choreoathetosis	HP:0007359|Focal seizures;HP:0002372|Normal interictal EEG;HP:0001251|Ataxia;HP:0007098|Paroxysmal choreoathetosis;HP:0000733|Stereotypy;HP:0002076|Migraine;HP:0007166|Paroxysmal dyskinesia;HP:0002197|Generalized seizures
facioscapulohumeral dystrophy	HP:0000298|Mask-like facies;HP:0003236|Elevated serum creatine phosphokinase;HP:0002564|Malformation of the heart and great vessels;HP:0003307|Hyperlordosis;HP:0003457|EMG abnormality;HP:0008046|Abnormality of the retinal vasculature;HP:0100540|Palpebral edema;HP:0000499|Abnormality of the eyelashes;HP:0000407|Sensorineural hearing impairment;HP:0003202|Skeletal muscle atrophy
graham little-piccardi-lassueur syndrome	HP:0001596|Alopecia;HP:0002215|Sparse axillary hair;HP:0002209|Sparse scalp hair;HP:0000989|Pruritus;HP:0100725|Lichenification;HP:0002225|Sparse pubic hair;HP:0007468|Perifollicular hyperkeratosis
x-linked lissencephaly with abnormal genitalia	HP:0001738|Exocrine pancreatic insufficiency;HP:0000028|Cryptorchidism;HP:0001250|Seizures;HP:0001257|Spasticity;HP:0001263|Global developmental delay;HP:0000347|Micrognathia;HP:0001274|Agenesis of corpus callosum;HP:0000966|Hypohidrosis;HP:0001629|Ventricular septal defect;HP:0000252|Microcephaly;HP:0002119|Ventriculomegaly;HP:0001643|Patent ductus arteriosus;HP:0001522|Death in infancy;HP:0002251|Aganglionic megacolon;HP:0011220|Prominent forehead;HP:0001252|Muscular hypotonia;HP:0000062|Ambiguous genitalia;HP:0001302|Pachygyria;HP:0002024|Malabsorption;HP:0008736|Hypoplasia of penis;HP:0001249|Intellectual disability
classic homocystinuria	HP:0100026|Arteriovenous malformation;HP:0001025|Urticaria;HP:0004337|Abnormality of amino acid metabolism;HP:0002239|Gastrointestinal hemorrhage;HP:0000518|Cataract;HP:0000646|Amblyopia;HP:0000541|Retinal detachment;HP:0000545|Myopia;HP:0001166|Arachnodactyly;HP:0001519|Disproportionate tall stature;HP:0002637|Cerebral ischemia;HP:0000218|High palate;HP:0000678|Dental crowding;HP:0000767|Pectus excavatum;HP:0002204|Pulmonary embolism;HP:0000822|Hypertension;HP:0002170|Intracranial hemorrhage;HP:0004374|Hemiplegia/hemiparesis;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0004936|Venous thrombosis;HP:0002209|Sparse scalp hair;HP:0002650|Scoliosis;HP:0002757|Recurrent fractures;HP:0000939|Osteoporosis;HP:0000709|Psychosis;HP:0002808|Kyphosis;HP:0000648|Optic atrophy;HP:0002240|Hepatomegaly;HP:0002857|Genu valgum;HP:0007703|Abnormality of retinal pigmentation;HP:0001933|Subcutaneous hemorrhage;HP:0002040|Esophageal varix;HP:0001249|Intellectual disability;HP:0002910|Elevated hepatic transaminases;HP:0001083|Ectopia lentis;HP:0001387|Joint stiffness;HP:0004420|Arterial thrombosis;HP:0100790|Hernia;HP:0000501|Glaucoma;HP:0000768|Pectus carinatum;HP:0002039|Anorexia
congenital non-bullous ichthyosiform erythroderma	HP:0001597|Abnormality of the nail;HP:0001596|Alopecia;HP:0000656|Ectropion;HP:0000966|Hypohidrosis;HP:0004322|Short stature;HP:0200020|Corneal erosion;HP:0000365|Hearing impairment;HP:0001019|Erythroderma;HP:0000989|Pruritus;HP:0001508|Failure to thrive;HP:0000491|Keratitis;HP:0000982|Palmoplantar keratoderma;HP:0008064|Ichthyosis
distal 22q11.2 microdeletion syndrome	HP:0001263|Global developmental delay;HP:0000160|Narrow mouth;HP:0000363|Abnormality of earlobe;HP:0001802|Absent toenail;HP:0006487|Bowing of the long bones;HP:0002553|Highly arched eyebrow;HP:0004942|Aortic aneurysm;HP:0000307|Pointed chin;HP:0000581|Blepharophimosis;HP:0001629|Ventricular septal defect;HP:0004322|Short stature;HP:0000722|Obsessive-compulsive behavior;HP:0000453|Choanal atresia;HP:0000657|Oculomotor apraxia;HP:0001166|Arachnodactyly;HP:0001770|Toe syndactyly;HP:0001659|Aortic regurgitation;HP:0000010|Recurrent urinary tract infections;HP:0001631|Atrial septal defect;HP:0002463|Language impairment;HP:0010296|Ankyloglossia;HP:0002205|Recurrent respiratory infections;HP:0000490|Deeply set eye;HP:0003307|Hyperlordosis;HP:0000276|Long face;HP:0009882|Short distal phalanx of finger;HP:0005692|Joint hyperflexibility;HP:0001852|Sandal gap;HP:0009465|Ulnar deviation of finger;HP:0001817|Absent fingernail;HP:0001511|Intrauterine growth retardation;HP:0004279|Short palm;HP:0000407|Sensorineural hearing impairment;HP:0001510|Growth delay;HP:0001250|Seizures;HP:0000175|Cleft palate;HP:0000324|Facial asymmetry;HP:0001660|Truncus arteriosus;HP:0002664|Neoplasm;HP:0002607|Bowel incontinence;HP:0000252|Microcephaly;HP:0000319|Smooth philtrum;HP:0001622|Premature birth;HP:0007018|Attention deficit hyperactivity disorder;HP:0000272|Malar flattening;HP:0004209|Clinodactyly of the 5th finger;HP:0002021|Pyloric stenosis;HP:0000023|Inguinal hernia;HP:0100033|Tics;HP:0001249|Intellectual disability;HP:0002705|High, narrow palate;HP:0000426|Prominent nasal bridge;HP:0002721|Immunodeficiency;HP:0000219|Thin upper lip vermilion;HP:0000716|Depression;HP:0001763|Pes planus;HP:0100490|Camptodactyly of finger;HP:0009795|Branchial fistula;HP:0002673|Coxa valga;HP:0000430|Underdeveloped nasal alae
neonatal marfan syndrome	HP:0005180|Tricuspid regurgitation;HP:0009901|Crumpled ear;HP:0001704|Tricuspid valve prolapse;HP:0001166|Arachnodactyly;HP:0003116|Abnormal echocardiogram;HP:0000592|Blue sclerae;HP:0008734|Decreased testicular size;HP:0012771|Increased arm span;HP:0030148|Heart murmur;HP:0011003|Severe Myopia;HP:0002643|Neonatal respiratory distress;HP:0001713|Abnormality of cardiac ventricle;HP:0001371|Flexion contracture;HP:0001653|Mitral regurgitation;HP:0000347|Micrognathia;HP:0010511|Long toe;HP:0000490|Deeply set eye;HP:0100693|Iridodonesis;HP:0001270|Motor delay;HP:0000973|Cutis laxa;HP:0002097|Emphysema;HP:0000369|Low-set ears;HP:0001265|Hyporeflexia;HP:0100578|Lipoatrophy;HP:0011968|Feeding difficulties;HP:0000494|Downslanted palpebral fissures;HP:0012418|Hypoxemia;HP:0001518|Small for gestational age;HP:0001181|Adducted thumb;HP:0000485|Megalocornea;HP:0004970|Ascending aortic dilation;HP:0000268|Dolichocephaly;HP:0100625|Enlarged thorax;HP:0000431|Wide nasal bridge;HP:0002705|High, narrow palate;HP:0001382|Joint hypermobility;HP:0001083|Ectopia lentis;HP:0001634|Mitral valve prolapse;HP:0008124|Talipes calcaneovarus;HP:0002631|Ascending aortic aneurysm;HP:0100807|Long fingers;HP:0001252|Muscular hypotonia;HP:0000768|Pectus carinatum
familial multinodular goiter	HP:0100617|Testicular seminoma;HP:0002890|Thyroid carcinoma;HP:0005987|Multinodular goiter;HP:0005584|Renal cell carcinoma;HP:0200063|Colorectal polyposis;HP:0000836|Hyperthyroidism;HP:0100528|Pleuropulmonary blastoma;HP:0007129|Cerebellar medulloblastoma;HP:0030434|Pilomatrixoma;HP:0100619|Sertoli cell neoplasm;HP:0006779|Alveolar rhabdomyosarcoma;HP:0100615|Ovarian neoplasm;HP:0030071|Medulloepithelioma;HP:0002671|Basal cell carcinoma
benign familial chorea	HP:0100022|Abnormality of movement;HP:0001288|Gait disturbance
vacterl/vater association	HP:0000028|Cryptorchidism;HP:0002777|Tracheal stenosis;HP:0002023|Anal atresia;HP:0000239|Large fontanelles;HP:0001048|Cavernous hemangioma;HP:0001601|Laryngomalacia;HP:0000776|Congenital diaphragmatic hernia;HP:0002575|Tracheoesophageal fistula;HP:0012732|Anorectal anomaly;HP:0008736|Hypoplasia of penis;HP:0000086|Ectopic kidney;HP:0000047|Hypospadias;HP:0006101|Finger syndactyly;HP:0000126|Hydronephrosis;HP:0002564|Malformation of the heart and great vessels;HP:0000104|Renal agenesis;HP:0001511|Intrauterine growth retardation;HP:0000772|Abnormality of the ribs;HP:0000062|Ambiguous genitalia;HP:0000008|Abnormality of female internal genitalia;HP:0002085|Occipital encephalocele;HP:0005108|Abnormality of the intervertebral disk;HP:0100335|Non-midline cleft lip;HP:0000048|Bifid scrotum;HP:0000175|Cleft palate;HP:0000003|Multicystic kidney dysplasia;HP:0001177|Preaxial hand polydactyly;HP:0005107|Abnormality of the sacrum;HP:0001539|Omphalocele;HP:0000795|Abnormality of the urethra;HP:0001622|Premature birth;HP:0005264|Abnormality of the gallbladder;HP:0001195|Single umbilical artery;HP:0006501|Aplasia/Hypoplasia of the radius;HP:0003422|Vertebral segmentation defect;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0000368|Low-set, posteriorly rotated ears;HP:0001732|Abnormality of the pancreas;HP:0001671|Abnormality of the cardiac septa;HP:0002323|Anencephaly;HP:0001561|Polyhydramnios
22q11.2 microduplication syndrome	HP:0001263|Global developmental delay;HP:0011800|Midface retrusion;HP:0010978|Abnormality of immune system physiology;HP:0001629|Ventricular septal defect;HP:0000722|Obsessive-compulsive behavior;HP:0000365|Hearing impairment;HP:0000600|Abnormality of the pharynx;HP:0000445|Wide nose;HP:0000508|Ptosis;HP:0000750|Delayed speech and language development;HP:0000347|Micrognathia;HP:0008661|Urethral stenosis;HP:0000126|Hydronephrosis;HP:0002167|Neurological speech impairment;HP:0000316|Hypertelorism;HP:0000733|Stereotypy;HP:0001636|Tetralogy of Fallot;HP:0011611|Interrupted aortic arch;HP:0000739|Anxiety;HP:0001510|Growth delay;HP:0000494|Downslanted palpebral fissures;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0000457|Depressed nasal ridge;HP:0100627|Displacement of the external urethral meatus;HP:0009908|Anterior creases of earlobe;HP:0000275|Narrow face;HP:0000252|Microcephaly;HP:0002650|Scoliosis;HP:0000319|Smooth philtrum;HP:0007018|Attention deficit hyperactivity disorder;HP:0010515|Aplasia/Hypoplasia of the thymus;HP:0004383|Hypoplastic left heart;HP:0001249|Intellectual disability;HP:0000717|Autism;HP:0000348|High forehead;HP:0001669|Transposition of the great arteries;HP:0001252|Muscular hypotonia;HP:0001611|Nasal speech
bullous diffuse cutaneous mastocytosis	HP:0001025|Urticaria;HP:0200151|Cutaneous mastocytosis;HP:0001019|Erythroderma;HP:0005587|Profuse pigmented skin lesions;HP:0000989|Pruritus;HP:0006543|Cardiorespiratory arrest;HP:0008066|Abnormal blistering of the skin
large congenital melanocytic nevus	HP:0001250|Seizures;HP:0002664|Neoplasm;HP:0012056|Cutaneous melanoma;HP:0001053|Hypopigmented skin patches;HP:0002859|Rhabdomyosarcoma;HP:0001482|Subcutaneous nodule;HP:0100242|Sarcoma;HP:0000989|Pruritus;HP:0001000|Abnormality of skin pigmentation;HP:0002230|Generalized hirsutism;HP:0003764|Nevus;HP:0000238|Hydrocephalus;HP:0008069|Neoplasm of the skin;HP:0005600|Congenital giant melanocytic nevus
x-linked hypohidrotic ectodermal dysplasia	HP:0000691|Microdontia;HP:0000457|Depressed nasal ridge;HP:0002007|Frontal bossing;HP:0001006|Hypotrichosis;HP:0000966|Hypohidrosis;HP:0000822|Hypertension;HP:0000684|Delayed eruption of teeth;HP:0002231|Sparse body hair;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0010803|Everted upper lip vermilion;HP:0000232|Everted lower lip vermilion;HP:0000830|Anterior hypopituitarism;HP:0009882|Short distal phalanx of finger;HP:0100651|Type I diabetes mellitus
2q37 microdeletion syndrome	HP:0001263|Global developmental delay;HP:0011800|Midface retrusion;HP:0000470|Short neck;HP:0002553|Highly arched eyebrow;HP:0000535|Sparse eyebrow;HP:0001601|Laryngomalacia;HP:0004322|Short stature;HP:0000722|Obsessive-compulsive behavior;HP:0001770|Toe syndactyly;HP:0000233|Thin vermilion border;HP:0005280|Depressed nasal bridge;HP:0010761|Broad columella;HP:0001156|Brachydactyly syndrome;HP:0000490|Deeply set eye;HP:0000582|Upslanted palpebral fissure;HP:0007598|Bilateral single transverse palmar creases;HP:0006101|Finger syndactyly;HP:0002007|Frontal bossing;HP:0001537|Umbilical hernia;HP:0002564|Malformation of the heart and great vessels;HP:0002558|Supernumerary nipple;HP:0005692|Joint hyperflexibility;HP:0000733|Stereotypy;HP:0004279|Short palm;HP:0002714|Downturned corners of mouth;HP:0002779|Tracheomalacia;HP:0001773|Short foot;HP:0010049|Short metacarpal;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0000003|Multicystic kidney dysplasia;HP:0000256|Macrocephaly;HP:0002667|Nephroblastoma;HP:0002209|Sparse scalp hair;HP:0000252|Microcephaly;HP:0007018|Attention deficit hyperactivity disorder;HP:0004209|Clinodactyly of the 5th finger;HP:0002021|Pyloric stenosis;HP:0000311|Round face;HP:0000430|Underdeveloped nasal alae;HP:0001679|Abnormality of the aorta;HP:0000405|Conductive hearing impairment;HP:0002360|Sleep disturbance;HP:0001249|Intellectual disability;HP:0006610|Wide intermamillary distance;HP:0200055|Small hand;HP:0000717|Autism;HP:0001513|Obesity;HP:0000463|Anteverted nares;HP:0000964|Eczema;HP:0001252|Muscular hypotonia;HP:0000776|Congenital diaphragmatic hernia
isolated aniridia	HP:0000639|Nystagmus;HP:0008059|Aplasia/Hypoplasia of the macula;HP:0000518|Cataract;HP:0000526|Aniridia;HP:0000572|Visual loss;HP:0000501|Glaucoma;HP:0000659|Peters anomaly
pierre robin syndrome and oligodactyly	HP:0000175|Palatoschisis;HP:0001180|Hand oligodactyly;HP:0000201|Pierre-robin deformity;HP:0000347|Hypoplasia of mandible
resistance to thyrotropin-releasing hormone syndrome	HP:0001263|Global developmental delay;HP:0000239|Large fontanelles;HP:0001537|Umbilical hernia;HP:0002019|Constipation;HP:0000158|Macroglossia;HP:0000280|Coarse facial features;HP:0001510|Growth delay;HP:0004491|Large posterior fontanelle;HP:0001252|Muscular hypotonia;HP:0001290|Generalized hypotonia;HP:0000821|Hypothyroidism;HP:0002360|Sleep disturbance;HP:0011968|Feeding difficulties;HP:0000271|Abnormality of the face;HP:0006579|Prolonged neonatal jaundice
vertebral fusion, posterior lumbosacral, with blepharoptosis	HP:0001939|Laboratory abnormality;HP:0005626|Posterior fusion of lumbosacral vertebrae;HP:0007970|Congenital ptosis
hypomelia with mullerian duct anomalies	HP:0003762|Uterus didelphys;HP:0001171|Hand ectrodactyly;HP:0008740|Vertical vaginal septum;HP:0001162|Postaxial polydactyly of fingers
hall-riggs mental retardation syndrome	HP:0001344|Absent speech development;HP:0000463|Nostrils anteverted;HP:0000316|Increased distance between eye sockets;HP:0100255|Metaphyseal dysplasia;HP:0006297|Hypoplasia of tooth enamel;HP:0000286|Palpebronasal fold;HP:0002808|Gibbus deformity;HP:0006334|Decreased size of primary teeth;HP:0000179|Plump lower lip;HP:0001249|Mental retardation;HP:0008872|Feeding difficulties in infancy;HP:0001250|Seizures;HP:0000252|Small head circumference;HP:0010806|U-Shaped upper lip vermilion;HP:0002650|Scoliosis;HP:0005280|Flat, nasal bridge;HP:0002750|Delayed bone maturation;HP:0000939|Osteoporosis;HP:0001508|Weight faltering;HP:0001511|Prenatal onset growth retardation;HP:0000926|Flattened vertebral bodies;HP:0003301|vertebral endplate irregularity;HP:0000448|Big nose;HP:0001156|Brachydactyly;HP:0006347|Microdontia of primary teeth
thoracic dysplasia-hydrocephalus syndrome	HP:0001263|Global developmental delay;HP:0009826|limb shortening;HP:0001250|Seizures;HP:0006644|Thoracic dysplasia;HP:0009826|Limb undergrowth;HP:0001251|Ataxia;HP:0001263|Developmental retardation;HP:0000457|Depressed nasal ridge;HP:0000773|Rib hypoplasia;HP:0002878|Respiratory failure;HP:0004322|Short stature;HP:0000774|Low chest circumference;HP:0000774|Narrow chest;HP:0001252|Muscular hypotonia;HP:0001334|Communicating hydrocephalus;HP:0000944|Abnormality of the metaphyses;HP:0000405|Conductive hearing impairment;HP:0001249|Intellectual disability
camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia	HP:0012385|Camptodactyly;HP:0001765|Hammertoes;HP:0009473|Joint contracture of the hand;HP:0002652|Skeletal dysplasia;HP:0001643|Persistent ductus arteriosus;HP:0002650|Scoliosis;HP:0001166|Long, slender fingers;HP:0000271|Abnormal face
teeth, noneruption of, with maxillary hypoplasia and genu valgum	HP:0005439|Decreased size of zygomaticomaxillary bone complex;HP:0000369|Low-set ears;HP:0006329|Alveolar process hypoplasia;HP:0006321|Multiple non-erupting permanent teeth;HP:0002857|Genu valgum;HP:0000358|Ear, posterior angulation, increased;HP:0000680|Late eruption of primary teeth
hallux varus and preaxial polysyndactyly	HP:0008080|Medially deviated halluces;HP:0001159|Webbed fingers or toes;HP:0001177|Preaxial hand polydactyly;HP:0010055|Abnormally broad great toes
familial long qt syndrome	HP:0000407|Sensorineural hearing impairment;HP:0001678|Atrioventricular block;HP:0011675|Arrhythmia;HP:0001903|Anemia;HP:0003363|Abdominal situs inversus
holzgreve syndrome	HP:0001161|Polydactyly of the hand;HP:0004383|Underdeveloped left heart;HP:0000089|Small kidneys;HP:0000204|Cleft upper lip;HP:0000104|Renal agenesis;HP:0000175|Palatoschisis
white forelock with malformations	HP:0002211|White forelock;HP:0000545|Myopia;HP:0000592|Blue sclerae;HP:0000316|Increased distance between eye sockets;HP:0000912|Sprengel anomaly;HP:0001631|Atrial septal defect;HP:0002780|Bronchomalacia;HP:0010185|Absent/small outermost bones of toe;HP:0006101|Finger syndactyly;HP:0002290|Poliosis;HP:0000486|Strabismus;HP:0003298|Spina bifida occulta;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0000772|Abnormality of the ribs;HP:0002211|Poliosis of forelock hair;HP:0000286|Epicanthus;HP:0004209|Clinodactyly of the 5th finger;HP:0000268|Dolichocephaly;HP:0007457|Prominent veins on trunk;HP:0002750|Delayed skeletal maturation;HP:0000368|Low-set, posteriorly rotated ears;HP:0002086|Abnormality of the respiratory system;HP:0000174|Abnormality of the palate;HP:0002002|Deep philtrum;HP:0001631|Atria septal defect
syndactyly-polydactyly-earlobe syndrome	HP:0005767|1-2 toe complete cutaneous syndactyly;HP:0001177|Preaxial hand polydactyly;HP:0000363|Abnormality of ear lobe;HP:0001841|Preaxial polydactyly of foot;HP:0001853|Bifid distal phalanx of toe;HP:0001837|Broad toe
rodrigues blindness	HP:0002213|Thin hair shaft;HP:0008070|Thinned hair;HP:0001999|Facial dysmorphism;HP:0004322|Stature below 3rd percentile;HP:0000968|Ectodermal dysplasia;HP:0000618|Blindness;HP:0000647|Sclerocornea;HP:0000411|Prominent ears;HP:0000446|Narrow nasal root;HP:0000568|Abnormally small globe of eye;HP:0000692|Malpositioned teeth;HP:0001249|Mental retardation;HP:0000482|Microcornea
eyebrows, duplication of, with stretchable skin and syndactyly	HP:0007425|Hyperextensible skin of face;HP:0010709|Syndactyly of second to fourth fingers;HP:0045018|Partial duplication of eyebrows;HP:0011930|Hyperextensible skin of chest;HP:0004691|partial or complete syndactyly 2nd-3rd toes;HP:0005620|Hypermobility of interphalangeal joints;HP:0000527|Long eyelashes;HP:0000607|Wrinkles around the eyes
trisomy 4p	HP:0000028|Cryptorchidism;HP:0000670|Carious teeth;HP:0000470|Short neck;HP:0004059|Radial club hand;HP:0000581|Blepharophimosis;HP:0004322|Short stature;HP:0010720|Abnormal hair pattern;HP:0100543|Cognitive impairment;HP:0005280|Depressed nasal bridge;HP:0000047|Hypospadias;HP:0002564|Malformation of the heart and great vessels;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0000164|Abnormality of the teeth;HP:0000574|Thick eyebrow;HP:0002916|Abnormality of chromosome segregation;HP:0001177|Preaxial hand polydactyly;HP:0009738|Abnormality of the antihelix;HP:0000294|Low anterior hairline;HP:0000252|Microcephaly;HP:0002650|Scoliosis;HP:0000319|Smooth philtrum;HP:0000311|Round face;HP:0006610|Wide intermamillary distance;HP:0002750|Delayed skeletal maturation;HP:0000400|Macrotia;HP:0000368|Low-set, posteriorly rotated ears;HP:0100490|Camptodactyly of finger;HP:0000174|Abnormality of the palate;HP:0001252|Muscular hypotonia
familial isolated hypoparathyroidism	HP:0001250|Seizures;HP:0000829|Hypoparathyroidism;HP:0000518|Cataract;HP:0000682|Abnormality of dental enamel;HP:0002901|Hypocalcemia;HP:0004322|Short stature;HP:0011675|Arrhythmia;HP:0000112|Nephropathy;HP:0000684|Delayed eruption of teeth;HP:0002514|Cerebral calcification;HP:0003198|Myopathy;HP:0100530|Abnormality of calcium-phosphate metabolism
holoprosencephaly with fetal akinesia/hypokinesia sequence	HP:0001558|Decreased fetal movement;HP:0000252|Small head circumference;HP:0001989|Fetal akinesia sequence;HP:0002828|Multiple joint contractures;HP:0001511|Prenatal onset growth retardation;HP:0001360|Single brain ventricle
patterson pseudoleprechaunism syndrome	HP:0001176|large hand;HP:0001507|Abnormal growth;HP:0007517|Wrinkled palms and soles;HP:0007574|Generalized bronze hyperpigmentation;HP:0008833|Irregular acetabular roof;HP:0003026|shortened long tubular bones;HP:0008476|irregular, dense end plate;HP:0002684|Thickened calvarium;HP:0003309|Ovoid thoracolumbar vertebrae;HP:0010864|Early and severe mental retardation;HP:0012412|Premature adrenarche;HP:0006887|Progressive mental retardation;HP:0001250|Seizures;HP:0002751|Kyphoscoliosis;HP:0000400|Large ears;HP:0004558|Cervical platyspondyly;HP:0004629|Small cervical vertebrae;HP:0003180|Flat acetabular roof;HP:0001386|Joint swelling;HP:0003311|Odontoid hypoplasia;HP:0003799|Marked retardation in skeletal maturation;HP:0002857|Genu valgum;HP:0003118|Increased circulating cortisol level;HP:0004684|Talipes valgus;HP:0000448|Big nose;HP:0001833|large feet;HP:0000819|Diabetes mellitus;HP:0001007|Hirsutism
ectodermal dysplasia, trichoodontoonychial type	HP:0000968|Ectodermal dysplasia;HP:0008388|Abnormality of the toenails;HP:0001006|Hypotrichosis;HP:0006482|Abnormality of dental morphology;HP:0007521|Irregular hyperpigmentation of back;HP:0006709|Aplasia/Hypoplasia of the nipples;HP:0000765|Abnormality of the thorax;HP:0001006|Marked hypotrichosis;HP:0000499|Abnormality of the eyelashes;HP:0000668|Hypodontia;HP:0002231|Sparse body hair;HP:0008587|Mild neurosensory hearing impairment;HP:0100578|Lipoatrophy;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0000366|Abnormality of the nose;HP:0000668|Failure of development of between one and six teeth;HP:0002561|Absent nipple;HP:0000995|Melanocytic nevus
acquired central diabetes insipidus	HP:0100515|Pollakisuria;HP:0001824|Weight loss;HP:0000873|Diabetes insipidus;HP:0001959|Polydipsia
multiple epiphyseal dysplasia with robin phenotype	HP:0000767|Funnel chest;HP:0002654|Multiple epiphyseal dysplasia;HP:0008905|Rhizomelic short limbs;HP:0000347|Hypoplasia of mandible;HP:0003097|Short femur;HP:0000316|Increased distance between eye sockets;HP:0001840|Forefoot varus;HP:0006167|Prominent proximal interphalangeal joints;HP:0003370|Flat capital femoral epiphyses;HP:0000369|Low-set ears;HP:0001762|Talipes equinovarus;HP:0000175|Palatoschisis;HP:0000358|Ear, posterior angulation, increased;HP:0003038|Hypoplastic fibula;HP:0002650|Scoliosis;HP:0000455|Increased breadth of tip of nose;HP:0000582|Upward slanting of palpebral fissures;HP:0002857|Genu valgum;HP:0003083|Dislocated radius;HP:0001511|Prenatal onset growth retardation;HP:0100864|Short femoral necks;HP:0002812|Coxa vara;HP:0001371|Flexion contractures of joints;HP:0003090|Hypoplasia of the capital femoral epiphysis;HP:0005792|Short upper arms;HP:0010582|Irregular epiphyses;HP:0001156|Brachydactyly
ataxia-pancytopenia syndrome	HP:0000639|Nystagmus;HP:0001310|Dysmetria;HP:0002166|Decreased lower limb vibratory sense;HP:0004820|Acute myelomonocytic leukemia;HP:0002205|Recurrent respiratory infections;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0001251|Ataxia;HP:0006801|Brisk deep tendon reflexes;HP:0001876|Low blood cell count;HP:0001874|Abnormality of neutrophils;HP:0002167|Neurological speech impairment;HP:0004313|Decreased antibody level in blood;HP:0000762|Decreased NCV;HP:0001876|Pancytopenia;HP:0001288|Gait disturbance;HP:0001908|Hypoplastic anemia;HP:0000252|Microcephaly;HP:0002317|Unsteady walk;HP:0001744|Splenomegaly;HP:0002317|Unsteady gait;HP:0001347|Hyperreflexia;HP:0001272|Cerebellar atrophy;HP:0004311|Abnormality of macrophages;HP:0011869|Abnormal platelet function
retinitis pigmentosa, deafness, mental retardation, and hypogonadism	HP:0001769|Broad foot;HP:0000639|Nystagmus;HP:0008070|Thinned hair;HP:0000147|Sclerocystic ovaries;HP:0004322|Stature below 3rd percentile;HP:0002059|Degeneration of cerebrum;HP:0001169|Wide palm;HP:0000958|Xerosis;HP:0000510|Retinitis pigmentosa;HP:0000598|Ear anomaly;HP:0000956|Keratosis nigricans;HP:0000580|Pigmentary retinopathy;HP:0001272|Cerebellar atrophy;HP:0000771|Gynaecomastia;HP:0000815|Primary hypogonadism;HP:0000280|Coarse facial features;HP:0002910|Elevated transaminases;HP:0000831|Insulin-resistant diabetes mellitus;HP:0000523|Subcapsular cataract;HP:0001249|Mental retardation;HP:0000869|Secondary amenorrhea
acth-dependent cushing syndrome	HP:0001061|Acne;HP:0001065|Striae distensae;HP:0000787|Nephrolithiasis;HP:0012378|Fatigue;HP:0000978|Bruising susceptibility;HP:0400008|Menometrorrhagia;HP:0000963|Thin skin;HP:0000822|Hypertension;HP:0009125|Lipodystrophy;HP:0000739|Anxiety;HP:0002893|Pituitary adenoma;HP:0002900|Hypokalemia;HP:0000939|Osteoporosis;HP:0001508|Failure to thrive;HP:0002230|Generalized hirsutism;HP:0000311|Round face;HP:0000789|Infertility;HP:0002721|Immunodeficiency;HP:0001324|Muscle weakness;HP:0000819|Diabetes mellitus;HP:0000716|Depression;HP:0007440|Generalized hyperpigmentation
pentasomy x	HP:0001263|Global developmental delay;HP:0001357|Plagiocephaly;HP:0010978|Abnormality of immune system physiology;HP:0004322|Short stature;HP:0000582|Upslanted palpebral fissure;HP:0000347|Micrognathia;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0001643|Patent ductus arteriosus;HP:0001773|Short foot;HP:0000252|Microcephaly;HP:0000823|Delayed puberty;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0200055|Small hand;HP:0001249|Intellectual disability;HP:0002974|Radioulnar synostosis;HP:0001385|Hip dysplasia;HP:0100490|Camptodactyly of finger;HP:0000368|Low-set, posteriorly rotated ears;HP:0001252|Muscular hypotonia;HP:0001671|Abnormality of the cardiac septa
edinburgh malformation syndrome	HP:0000160|Narrow mouth;HP:0001238|Slender finger;HP:0003196|Short nose;HP:0000453|Choanal atresia;HP:0000233|Thin vermilion border;HP:0001088|Brushfield spots;HP:0002269|Abnormality of neuronal migration;HP:0000347|Micrognathia;HP:0002007|Frontal bossing;HP:0000369|Low-set ears;HP:0008056|Aplasia/Hypoplasia affecting the eye;HP:0009465|Ulnar deviation of finger;HP:0001270|Motor retardation;HP:0001276|Hypertonia;HP:0001249|Mental retardation;HP:0002714|Downturned corners of mouth;HP:0001250|Seizures;HP:0002093|Respiratory insufficiency;HP:0003265|Neonatal hyperbilirubinemia;HP:0001608|Abnormality of the voice;HP:0005616|Early bone maturation;HP:0001508|Weight faltering;HP:0000664|Synophrys;HP:0001508|Failure to thrive;HP:0002230|Generalized hirsutism;HP:0005616|Accelerated skeletal maturation;HP:0001249|Intellectual disability;HP:0002162|Low posterior hairline;HP:0000952|Yellow skin;HP:0001387|Joint stiffness;HP:0000463|Anteverted nares;HP:0001007|Hirsutism;HP:0000238|Nonsyndromal hydrocephalus;HP:0100807|Long fingers;HP:0000238|Hydrocephalus;HP:0000271|Abnormal face
simosa craniofacial syndrome	HP:0002705|High, narrow palate;HP:0000272|Depressed malar region;HP:0001611|Hypernasal speech;HP:0000506|Telecanthus;HP:0002553|Highly arched eyebrow;HP:0000581|Blepharophimosis;HP:0000369|Low-set ears;HP:0000276|Long face;HP:0000951|dermatopathy;HP:0000160|Small mouth;HP:0000377|Malformation of auricle;HP:0000437|Nasal tip, depressed;HP:0000343|Vertical hyperplasia of philtrum;HP:0000535|Thin, sparse eyebrows;HP:0000431|Broad nasal root;HP:0000337|Increased bitemporal dimension;HP:0010751|Gelasin of chin;HP:0003189|Elongated nose;HP:0000023|Inguinal hernia;HP:0000358|Ear, posterior angulation, increased;HP:0000430|Nasal cartilage hypoplasia
charlie m syndrome	HP:0000322|Short philtrum;HP:0000160|Narrow mouth;HP:0001171|Split hand;HP:0001231|Abnormality of the fingernails;HP:0000347|Micrognathia;HP:0006101|Finger syndactyly;HP:0008388|Abnormality of the toenails;HP:0001199|Triphalangeal thumb;HP:0001163|Abnormality of the metacarpal bones;HP:0000316|Hypertelorism;HP:0000400|Macrotia;HP:0000233|Thin vermilion border;HP:0009804|Reduced number of teeth;HP:0000431|Wide nasal bridge;HP:0100335|Non-midline cleft lip;HP:0001156|Brachydactyly syndrome
keratosis, focal palmoplantar and gingival	HP:0000222|Hyperkeratosis, gingival;HP:0008399|Circumungual hyperkeratosis;HP:0008392|Subungual hyperkeratosis;HP:0007497|Focal friction-related palmoplantar hyperkeratosis
spastic paraplegia with neuropathy and poikiloderma	HP:0007220|Demyelinating motor neuropathy;HP:0001029|Poikiloderma;HP:0003693|Muscle atrophy, distal;HP:0011402|Demyelinating sensory neuropathy;HP:0001258|Spastic paraplegia, lower limb;HP:0002223|Absent eyebrow;HP:0000561|Absent eyelashes;HP:0003383|'Onion bulb' formations
hemifacial microsomia with radial defects	HP:0003778|Short mandibular rami;HP:0000324|Asymmetry of face;HP:0000413|External auditory meatal atresia;HP:0004467|Pit in front of the ear;HP:0001199|Triphalangeal thumb;HP:0000405|Conductive hearing loss;HP:0100335|Non-midline cleft of the upper lip;HP:0009943|Complete duplication of thumb bones;HP:0008551|Hypoplasia of the external ear;HP:0000175|Palatoschisis;HP:0000384|Preauricular skin tag
weaver-williams syndrome	HP:0000160|Narrow mouth;HP:0010864|Intellectual disability, severe;HP:0000411|Protruding ear;HP:0004325|Decreased body weight;HP:0000175|Cleft palate;HP:0002342|Intellectual disability, moderate;HP:0000252|Microcephaly
pellagra-like syndrome	HP:0000988|Exanthem;HP:0001251|Ataxia;HP:0001263|Developmental retardation;HP:0000518|Cataract;HP:0001289|Confusion;HP:0000651|Diplopia;HP:0001260|Dysarthric speech
aplasia cutis congenita with intestinal lymphangiectasia	HP:0002593|Intestinal lymphangiectasia;HP:0001888|Lymphocytopenia;HP:0003075|Hypoproteinemia;HP:0007430|Generalized edema;HP:0001892|Bleeding diathesis;HP:0004471|Absent cutis congenita of vertex;HP:0000245|Abnormality of the paranasal sinuses
brachytelephalangy with characteristic facies and kallmann syndrome	HP:0000044|Hypogonadotrophic hypogonadism;HP:0000219|Decreased height of upper lip vermilion;HP:0000506|Telecanthus;HP:0000458|Anosmia;HP:0005280|Flat, nasal bridge;HP:0000319|Smooth philtrum;HP:0006118|Shortening of all outermost bones of the fingers
callosities, hereditary painful	HP:0000951|dermatopathy
sialidosis type 2	HP:0001263|Global developmental delay;HP:0001103|Abnormality of the macula;HP:0002094|Dyspnea;HP:0004322|Short stature;HP:0000943|Dysostosis multiplex;HP:0000365|Hearing impairment;HP:0001290|Generalized hypotonia;HP:0010306|Short thorax;HP:0001789|Hydrops fetalis;HP:0000750|Delayed speech and language development;HP:0001371|Flexion contracture;HP:0001251|Ataxia;HP:0001537|Umbilical hernia;HP:0000112|Nephropathy;HP:0001541|Ascites;HP:0001250|Seizures;HP:0001618|Dysphonia;HP:0007957|Corneal opacity;HP:0010741|Edema of the lower limbs;HP:0100022|Abnormality of movement;HP:0000939|Osteoporosis;HP:0002808|Kyphosis;HP:0002240|Hepatomegaly;HP:0000023|Inguinal hernia;HP:0001744|Splenomegaly;HP:0005561|Abnormality of bone marrow cell morphology;HP:0001324|Muscle weakness;HP:0001337|Tremor;HP:0000280|Coarse facial features;HP:0000768|Pectus carinatum;HP:0003202|Skeletal muscle atrophy
brachydactyly-ectrodactyly with fibular aplasia or hypoplasia	HP:0001839|Foot ectrodactyly;HP:0009803|Hypoplastic/small phalanges of the hand;HP:0001156|Brachydactyly;HP:0006492|Aplasia/Hypoplasia of the fibula;HP:0002990|Absent calf bone
laryngeal web, familial	HP:0001609|Hoarseness;HP:0002788|Recurrent upper respiratory infection;HP:0002098|Respiratory distress;HP:0005950|Laryngeal webs;HP:0010307|Stridor
chromosome xq27.3-q28 duplication syndrome	HP:0000028|Cryptorchidism;HP:0001438|Abnormality of the abdomen;HP:0100543|Cognitive deficits;HP:0000233|Decreased volume of lip vermillion;HP:0000490|Sunken eyes;HP:0008734|Decreased testicular size;HP:0000837|Elevated gonadotropins;HP:0000135|Hypogonadism;HP:0004322|Stature below 3rd percentile;HP:0000771|Gynaecomastia;HP:0002231|Sparse body hair;HP:0005922|Abnormal hand morphology;HP:0001263|Developmental retardation;HP:0008209|Premature ovarian failure;HP:0001518|Small for gestational age;HP:0008230|Decreased testosterone in males;HP:0200055|Small hand;HP:0001511|Prenatal onset growth retardation;HP:0001773|Small feet;HP:0001620|High pitched voice;HP:0012743|Central obesity;HP:0001256|Mild mental retardation;HP:0000414|Bulbous nose
flotch syndrome	HP:0001597|Abnormality of the nail;HP:0000787|Nephrolithiasis;HP:0000492|Abnormality of the eyelid;HP:0100533|Inflammatory abnormality of the eye;HP:0000613|Photophobia;HP:0000499|Abnormality of the eyelashes;HP:0000498|Blepharitis;HP:0008069|Neoplasm of the skin;HP:0000653|Sparse eyelashes
deafness, conductive, with ptosis and skeletal anomalies	HP:0000968|Ectodermal dysplasia;HP:0000413|External auditory meatal atresia;HP:0004209|Clinodactyly of fifth digit;HP:0000405|Conductive hearing loss;HP:0000389|Chronic otitis media;HP:0000164|Abnormality of the teeth;HP:0000508|Drooping upper eyelid
nephrosis with deafness and urinary tract and digital malformations	HP:0010097|Notched outermost bone of big toe;HP:0010103|Hypoplastic/small distal phalanx of the hallux;HP:0000365|Hearing impairment;HP:0000193|Uvula bifida;HP:0009611|Bifid distal phalanx of thumb;HP:0000100|Nephrosis;HP:0009650|Short thumb terminal phalanx
arthrogryposis-like syndrome	HP:0000889|Abnormality of the clavicle;HP:0001883|Talipes;HP:0003312|Abnormal form of the vertebral bodies;HP:0006501|Aplasia/Hypoplasia of the radius;HP:0001288|Gait disturbance;HP:0001387|Joint stiffness;HP:0002650|Scoliosis;HP:0006498|Aplasia/Hypoplasia of the patella;HP:0001315|Reduced tendon reflexes;HP:0000995|Melanocytic nevus
fountain syndrome	HP:0011800|Midface retrusion;HP:0004322|Short stature;HP:0000545|Myopia;HP:0001482|Subcutaneous nodule;HP:0001176|Large hands;HP:0000232|Everted lower lip vermilion;HP:0000767|Pectus excavatum;HP:0000974|Hyperextensible skin;HP:0000508|Ptosis;HP:0100255|Metaphyseal dysplasia;HP:0001156|Brachydactyly syndrome;HP:0010783|Erythema;HP:0000282|Facial puffiness;HP:0002684|Thickened calvarium;HP:0004322|Stature below 3rd percentile;HP:0000965|Cutis marmorata;HP:0000154|Wide mouth;HP:0004279|Hypoplastic hands;HP:0000276|Long face;HP:0002167|Neurological speech impairment;HP:0000316|Hypertelorism;HP:0003298|Spina bifida occulta;HP:0000574|Thick eyebrow;HP:0000179|Plump lower lip;HP:0000407|Sensorineural hearing impairment;HP:0002414|Spina bifida;HP:0001249|Mental retardation;HP:0001169|Wide palm;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0003312|Abnormal form of the vertebral bodies;HP:0000256|Macrocephaly;HP:0009836|Broad terminal phalanges;HP:0000293|Full cheeks;HP:0001163|Abnormality of the metacarpal bones;HP:0002650|Scoliosis;HP:0000664|Synophrys;HP:0002808|Kyphosis;HP:0004493|Craniofacial hyperostosis;HP:0001760|Abnormality of the foot;HP:0000311|Round face;HP:0001249|Intellectual disability;HP:0000179|Thick lower lip vermilion;HP:0000505|Visual impairment;HP:0000407|sensorineural hearing loss;HP:0000280|Coarse facial features;HP:0000282|Facial edema;HP:0000212|Gingival overgrowth;HP:0000174|Abnormality of the palate;HP:0200034|Papule;HP:0100670|Rough bone trabeculation;HP:0009882|Short distal phalanx of finger
ulnar hypoplasia with mental retardation	HP:0005648|Bilateral ulnar hypoplasia;HP:0010501|Limited knee movement;HP:0001802|Absent toenail;HP:0002187|Intellectual disability, profound;HP:0002996|Decreased elbow mobility;HP:0001762|Talipes equinovarus;HP:0001817|Absent fingernail
multiple epiphyseal dysplasia due to collagen 9 anomaly	HP:0002829|Arthralgia;HP:0001385|Hip dysplasia;HP:0002970|Genu varum;HP:0002857|Genu valgum;HP:0001288|Gait disturbance;HP:0004322|Short stature;HP:0002758|Osteoarthritis;HP:0005930|Abnormality of epiphysis morphology;HP:0001376|Limitation of joint mobility;HP:0002983|Micromelia
coxoauricular syndrome	HP:0000413|Atresia of the external auditory canal;HP:0004322|Stature below 3rd percentile;HP:0004322|Short stature;HP:0002827|Hip dislocation;HP:0000365|Hearing impairment;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0004349|Reduced bone mineral density;HP:0002823|Abnormality of the femur;HP:0008551|Microtia;HP:0008551|Hypoplasia of the external ear;HP:0002983|Micromelia
pectus excavatum, macrocephaly, short stature, and dysplastic nails	HP:0001252|Hypotonia;HP:0000767|Funnel chest;HP:0004322|Stature below 3rd percentile;HP:0000272|Depressed malar region;HP:0001263|Developmental retardation;HP:0004482|Macrocephaly, relative;HP:0005280|Flat, nasal bridge;HP:0000336|Prominent supraorbital ridges;HP:0011800|Midface, flat;HP:0002164|Nail dysplasia;HP:0011220|Prominent forehead
ataxia-deafness-retardation syndrome	HP:0001251|Ataxia;HP:0001249|Mental retardation;HP:0000408|Bilateral progressive sensorineural hearing loss
congenital muscular dystrophy type 1a	HP:0002835|Aspiration;HP:0100543|Cognitive impairment;HP:0002015|Dysphagia;HP:0012664|Reduced ejection fraction;HP:0030234|Highly elevated creatine phosphokinase;HP:0001612|Weak cry;HP:0003741|Congenital muscular dystrophy;HP:0005216|Chewing difficulties;HP:0010628|Facial palsy;HP:0012747|Abnormal brainstem MRI signal intensity;HP:0001339|Lissencephaly;HP:0002375|Hypokinesia;HP:0001371|Flexion contracture;HP:0100295|Muscle fiber atrophy;HP:0001270|Motor delay;HP:0003307|Hyperlordosis;HP:0000158|Macroglossia;HP:0000194|Open mouth;HP:0001302|Pachygyria;HP:0002446|Astrocytosis;HP:0002020|Gastroesophageal reflux;HP:0009025|Increased connective tissue;HP:0001250|Seizures;HP:0002058|Myopathic facies;HP:0004325|Decreased body weight;HP:0007359|Focal seizures;HP:0002093|Respiratory insufficiency;HP:0100750|Atelectasis;HP:0002650|Scoliosis;HP:0011675|Arrhythmia;HP:0010754|Abnormality of the temporomandibular joint;HP:0002791|Hypoventilation;HP:0002181|Cerebral edema;HP:0100614|Myositis;HP:0003560|Muscular dystrophy;HP:0001939|Abnormality of metabolism/homeostasis;HP:0002540|Inability to walk;HP:0001249|Intellectual disability;HP:0001319|Neonatal hypotonia;HP:0001638|Cardiomyopathy;HP:0006879|Pontocerebellar atrophy;HP:0007141|Sensorimotor neuropathy;HP:0001324|Muscle weakness;HP:0002878|Respiratory failure;HP:0002783|Recurrent lower respiratory tract infections;HP:0010808|Protruding tongue;HP:0000649|Abnormality of visual evoked potentials;HP:0002121|Absence seizures;HP:0001252|Muscular hypotonia;HP:0002092|Pulmonary arterial hypertension;HP:0004878|Intercostal muscle weakness
familial chylomicronemia syndrome	HP:0009789|Perianal abscess;HP:0004416|Precocious atherosclerosis;HP:0002354|Memory impairment;HP:0001433|Hepatosplenomegaly;HP:0002204|Pulmonary embolism;HP:0100851|Abnormal emotion/affect behavior;HP:0002017|Nausea and vomiting;HP:0002155|Hypertriglyceridemia;HP:0000952|Jaundice;HP:0002574|Episodic abdominal pain;HP:0001735|Acute pancreatitis;HP:0004325|Decreased body weight;HP:0100027|Recurrent pancreatitis;HP:0003077|Hyperlipidemia;HP:0000726|Dementia;HP:0001508|Failure to thrive;HP:0001397|Hepatic steatosis;HP:0000660|Lipemia retinalis;HP:0000819|Diabetes mellitus;HP:0000716|Depression;HP:0012238|Hyperchylomicronemia;HP:0001013|Eruptive xanthomas
piebald trait with neurologic defects	HP:0000365|Hearing impairment;HP:0002211|Poliosis of forelock hair;HP:0007542|Absent pigmentation of the ventral chest;HP:0001249|Mental retardation;HP:0001251|Ataxia
banki syndrome	HP:0005048|Synostosis of carpal bones;HP:0001163|Abnormality of the metacarpal bones;HP:0009466|Radially deviated phalanges;HP:0030084|Clinodactyly;HP:0004209|Clinodactyly of the 5th finger;HP:0001156|Brachydactyly syndrome
van den bosch syndrome	HP:0000924|Abnormality of the skeletal system;HP:0001139|Choroideremia;HP:0200016|Acral keratosis;HP:0001249|Mental retardation;HP:0000970|Lack of sweating
spondylometaphyseal dysplasia, axial	HP:0000639|Nystagmus;HP:0005257|Small chest;HP:0002657|Spondylometaphyseal dysplasia;HP:0006532|Pneumonia, recurrent episodes;HP:0100864|Short femoral necks;HP:0004322|Stature below 3rd percentile;HP:0002812|Coxa vara;HP:0000907|Anteriorly splayed ribs;HP:0000926|Flattened vertebral bodies;HP:0003375|Narrow sacrosciatic notch;HP:0000510|Retinitis pigmentosa;HP:0003411|Proximal femoral metaphyseal irregularity;HP:0000648|Optic-nerve degeneration
isolated cloverleaf skull syndrome	HP:0011800|Midface retrusion;HP:0000520|Proptosis;HP:0003312|Abnormal form of the vertebral bodies;HP:0001363|Craniosynostosis;HP:0006101|Finger syndactyly;HP:0002652|Skeletal dysplasia;HP:0000348|High forehead;HP:0100543|Cognitive impairment;HP:0000444|Convex nasal ridge;HP:0000368|Low-set, posteriorly rotated ears;HP:0000272|Malar flattening;HP:0001376|Limitation of joint mobility
symphalangism with multiple anomalies of hands and feet	HP:0000365|Hearing impairment;HP:0000256|Macrocrania;HP:0001770|Toe syndactyly;HP:0010179|Symphalangism affecting the phalanges of the toes;HP:0010487|Small hypothenar eminence;HP:0007477|Abnormal dermatoglyphics;HP:0004218|Symphalangism of the 5th finger;HP:0010182|Abnormality of the distal phalanges of the toes;HP:0100371|Aplasia/Hypoplasia of the distal phalanx of the 5th toe;HP:0001156|Brachydactyly syndrome;HP:0006101|Finger syndactyly;HP:0001245|Small thenar eminence;HP:0030084|Clinodactyly;HP:0006143|Abnormal finger flexion creases;HP:0001864|Clinodactyly of the 5th toe;HP:0001032|Absent distal interphalangeal creases;HP:0001049|Absent dorsal skin creases over affected joints;HP:0010487|Hypoplasia of the hypothenar eminence;HP:0000256|Macrocephaly;HP:0001245|Hypoplastic thenar eminences;HP:0000405|Conductive hearing impairment;HP:0005650|Cutaneous syndactyly between fingers 2 and 5;HP:0010103|Short distal phalanx of hallux;HP:0010554|Cutaneous syndactyly of hands;HP:0001018|Abnormal palmar dermatoglyphics;HP:0009700|Finger symphalangism;HP:0006019|Reduced proximal interphalangeal joint space;HP:0005807|Absent distal phalanges;HP:0009778|Small thumbs;HP:0006152|Proximal interphalangeal joint synostoses;HP:0004197|Symphalangism of the 4th finger
peripheral hypothyroidism	HP:0001263|Global developmental delay;HP:0003270|Abdominal distention;HP:0000239|Large fontanelles;HP:0001537|Umbilical hernia;HP:0012378|Fatigue;HP:0002019|Constipation;HP:0000158|Macroglossia;HP:0000280|Coarse facial features;HP:0001252|Muscular hypotonia;HP:0000952|Jaundice;HP:0001290|Generalized hypotonia;HP:0000821|Hypothyroidism;HP:0002360|Sleep disturbance;HP:0011968|Feeding difficulties;HP:0000271|Abnormality of the face;HP:0001249|Intellectual disability
autosomal recessive cutis laxa type 2	HP:0001263|Global developmental delay;HP:0000160|Narrow mouth;HP:0000670|Carious teeth;HP:0001274|Agenesis of corpus callosum;HP:0003196|Short nose;HP:0000545|Myopia;HP:0001374|Congenital hip dislocation;HP:0000303|Mandibular prognathia;HP:0000973|Cutis laxa;HP:0000369|Low-set ears;HP:0001537|Umbilical hernia;HP:0000486|Strabismus;HP:0002097|Emphysema;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0001511|Intrauterine growth retardation;HP:0001510|Growth delay;HP:0000494|Downslanted palpebral fissures;HP:0001250|Seizures;HP:0100678|Premature skin wrinkling;HP:0000656|Ectropion;HP:0000252|Microcephaly;HP:0000939|Osteoporosis;HP:0000431|Wide nasal bridge;HP:0000268|Dolichocephaly;HP:0001626|Abnormality of the cardiovascular system;HP:0001582|Redundant skin;HP:0000463|Anteverted nares;HP:0000621|Entropion;HP:0000400|Macrotia;HP:0100790|Hernia;HP:0001252|Muscular hypotonia;HP:0000270|Delayed cranial suture closure
brachydactyly, mononen type	HP:0003502|Mild short stature;HP:0010034|Short 1st metacarpal;HP:0010105|Short first metatarsal;HP:0009565|Aplasia of the distal phalanx of the 2nd finger;HP:0005067|Overgrowth of innermost part of calf bone;HP:0100266|Carpal and tarsal fusions;HP:0010432|Aplasia of the distal phalanx of the 2nd toe
16p11.2p12.2 microduplication syndrome	HP:0000047|Hypospadias;HP:0000717|Autism;HP:0001250|Seizures;HP:0000175|Cleft palate;HP:0001263|Global developmental delay;HP:0100753|Schizophrenia;HP:0000545|Myopia;HP:0000252|Microcephaly;HP:0000709|Psychosis;HP:0001332|Dystonia;HP:0007018|Attention deficit hyperactivity disorder;HP:0000767|Pectus excavatum;HP:0002463|Language impairment;HP:0001249|Intellectual disability
teeth, congenital absence of, with taurodontia and sparse hair	HP:0008070|Thinned hair;HP:0000677|Failure of development of more than six teeth;HP:0000679|Taurodont
hyperkeratosis-hyperpigmentation syndrome	HP:0200034|Papule;HP:0000962|Hyperkeratosis;HP:0000992|Cutaneous photosensitivity;HP:0007400|Irregular hyperpigmentation;HP:0007565|Multiple cafe-au-lait spots
primary lipodystrophy	HP:0001635|Congestive heart failure;HP:0005978|Type II diabetes mellitus;HP:0001744|Splenomegaly;HP:0003326|Myalgia;HP:0000956|Acanthosis nigricans;HP:0001394|Cirrhosis;HP:0000855|Insulin resistance;HP:0001733|Pancreatitis;HP:0003712|Skeletal muscle hypertrophy;HP:0003077|Hyperlipidemia;HP:0000822|Hypertension;HP:0400008|Menometrorrhagia;HP:0002635|Atheromatosis;HP:0000991|Xanthomatosis;HP:0001397|Hepatic steatosis;HP:0003198|Myopathy;HP:0100578|Lipoatrophy;HP:0000147|Polycystic ovaries;HP:0009125|Lipodystrophy;HP:0001681|Angina pectoris;HP:0001638|Cardiomyopathy
pyogenic bacterial infections due to myd88 deficiency	HP:0005406|Recurrent bacterial skin infections;HP:0001945|Fever;HP:0002721|Immunodeficiency
cleft-limb-heart malformation syndrome	HP:0001660|Common arterial trunk;HP:0001159|Webbed fingers or toes;HP:0001507|Abnormal growth
rhizomelic syndrome	HP:0000252|Small head circumference;HP:0008905|Rhizomelic short limbs;HP:0000347|Hypoplasia of mandible;HP:0000260|Wide anterior fontanel;HP:0002827|Hip dislocation;HP:0009943|Complete duplication of thumb bones;HP:0009611|Bifid distal phalanx of thumb;HP:0001642|Pulmonic stenosis
oromandibular-limb hypogenesis syndrome	HP:0000168|Abnormality of the gingiva;HP:0000175|Cleft palate;HP:0000303|Mandibular prognathia;HP:0000163|Abnormality of the oral cavity;HP:0000277|Abnormality of the mandible;HP:0000164|Abnormality of the teeth;HP:0004097|Deviation of finger;HP:0010295|Aplasia/Hypoplasia of the tongue;HP:0008388|Abnormality of the toenails
chromosome xp11.23-p11.22 duplication syndrome	HP:0001159|Webbed fingers or toes;HP:0001611|Hypernasal speech;HP:0002121|Petit mal seizures;HP:0100962|Shyness;HP:0006889|Intellectual disability, borderline;HP:0002353|Abnormal EEG;HP:0001609|Hoarseness;HP:0001763|Pes planus;HP:0001761|Pes cavus;HP:0002465|Poor speech
cataract and congenital ichthyosis	HP:0000518|Cataract;HP:0007431|Congenital ichthyosis
facial onset sensory and motor neuronopathy	HP:0003401|Paresthesia;HP:0002380|Fasciculations;HP:0001324|Muscle weakness;HP:0002015|Dysphagia;HP:0003394|Muscle cramps;HP:0001260|Dysarthria;HP:0003202|Skeletal muscle atrophy
larsen-like syndrome, lethal type	HP:0001939|Laboratory abnormality;HP:0002089|Hypoplastic lungs;HP:0001601|Laryngomalacia;HP:0010444|Puolmonary valve insufficiency;HP:0012095|Multiple joint dislocation;HP:0008178|Abnormal cartilage matrix;HP:0002779|Tracheomalacia;HP:0002093|progressive respiratory failure
microcornea, glaucoma, and absent frontal sinuses	HP:0000501|Glaucoma;HP:0002688|Absent frontal sinuses;HP:0000482|Microcornea
radial aplasia, x-linked	HP:0002023|Anal atresia;HP:0003974|Absent ossification/absence of radius;HP:0003244|Penile hypospadias;HP:0000238|Nonsyndromal hydrocephalus
cutaneous photosensitivity and colitis, lethal	HP:0010783|Erythema;HP:0002014|Diarrhea;HP:0007396|Sun sensitivity occuring early in life;HP:0002583|Colitis
lelis syndrome	HP:0000670|Carious teeth;HP:0011800|Midface retrusion;HP:0008404|Nail dystrophy;HP:0000577|Exotropia;HP:0001006|Hypotrichosis;HP:0011367|Yellow nails;HP:0001045|Vitiligo;HP:0007646|Absent lower eyelashes;HP:0005338|Sparse lateral eyebrow;HP:0000972|Palmoplantar hyperkeratosis;HP:0000582|Upslanted palpebral fissure;HP:0000303|Mandibular prognathia;HP:0000276|Long face;HP:0000668|Hypodontia;HP:0008388|Abnormality of the toenails;HP:0000153|Abnormality of the mouth;HP:0000221|Furrowed tongue;HP:0000966|Hypohidrosis;HP:0001249|Intellectual disability;HP:0001620|High pitched voice;HP:0010802|Perioral hyperpigmentation;HP:0000956|Acanthosis nigricans
grant syndrome	HP:0006487|Bowing of the long bones;HP:0000239|Large fontanelles;HP:0004322|Short stature;HP:0000347|Hypoplasia of mandible;HP:0003103|Abnormal cortical bone morphology;HP:0000248|Brachycephaly;HP:0000592|Blue sclerae;HP:0000592|Bluish sclerae;HP:0001373|Joint dislocation;HP:0000912|Sprengel anomaly;HP:0002645|Wormian bones;HP:0005280|Depressed nasal bridge;HP:0100729|Large face;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0000347|Micrognathia;HP:0001024|Skin dimple over apex of long bone angulation;HP:0002007|Frontal bossing;HP:0012368|Flat face;HP:0005692|Joint hyperflexibility;HP:0000774|Narrow chest;HP:0000772|Abnormality of the ribs;HP:0004331|Decreased skull ossification;HP:0000324|Facial asymmetry;HP:0002982|Bowed tibia;HP:0011912|Abnormality of the glenoid fossa;HP:0200021|Rounded shoulders;HP:0002645|Extra bones within cranial sutures;HP:0010807|Open bite;HP:0000174|Abnormality of the palate;HP:0001252|Muscular hypotonia
gemignani syndrome	HP:0000035|Abnormality of the testis;HP:0001251|Ataxia;HP:0004374|Hemiplegia/hemiparesis;HP:0001347|Hyperreflexia;HP:0001053|Hypopigmented skin patches;HP:0003457|EMG abnormality;HP:0004322|Short stature;HP:0007328|Impaired pain sensation;HP:0000823|Delayed puberty;HP:0008736|Hypoplasia of penis;HP:0000407|Sensorineural hearing impairment;HP:0003202|Skeletal muscle atrophy;HP:0001249|Intellectual disability
ulnar/fibular ray defect and brachydactyly	HP:0001631|Atria septal defect;HP:0000311|Round facial shape;HP:0004322|Stature below 3rd percentile;HP:0000272|Depressed malar region;HP:0003038|Hypoplastic fibula;HP:0001776|Bilateral talipes equinovarus;HP:0001770|Toe syndactyly;HP:0011800|Midface, flat;HP:0006210|Postaxial oligodactyly;HP:0100559|Lower limb asymmetry;HP:0002007|Frontal protruberance;HP:0011220|Prominent forehead;HP:0001028|Strawberry mark;HP:0005036|Unilateral ulnar hypoplasia;HP:0001156|Brachydactyly
oral erosive lichen	HP:0010783|Erythema;HP:0100825|Cheilitis;HP:0000958|Dry skin;HP:0000155|Oral ulcer;HP:0100725|Lichenification;HP:0008066|Abnormal blistering of the skin
triphalangeal thumbs and dislocation of patella	HP:0001199|Triphalangeal thumb;HP:0004322|Stature below 3rd percentile;HP:0005001|Recurrent patellar dislocation
adult-onset autosomal dominant leukodystrophy	HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0002015|Dysphagia;HP:0007256|Abnormal pyramidal signs;HP:0006827|Atrophy of the spinal cord;HP:0000365|Hearing impairment;HP:0002019|Constipation;HP:0000572|Visual loss;HP:0001260|Dysarthria;HP:0001257|Spasticity;HP:0001251|Ataxia;HP:0002615|Hypotension;HP:0000012|Urinary urgency;HP:0002120|Cerebral cortical atrophy;HP:0001256|Intellectual disability, mild;HP:0007371|Corpus callosum atrophy;HP:0001288|Gait disturbance;HP:0000966|Hypohidrosis;HP:0000802|Impotence;HP:0010955|Dilatation of the bladder;HP:0001347|Hyperreflexia;HP:0001337|Tremor;HP:0002273|Tetraparesis
pemphigus vulgaris, familial	HP:0200097|Bullae of oral mucosa;HP:0030057|Autoimmune antibody positivity
osteopenia and sparse hair	HP:0001252|Hypotonia;HP:0000938|Decreased bone mineral density;HP:0008070|Thinned hair;HP:0001249|Mental retardation;HP:0001388|Joint laxity;HP:0000271|Abnormal face
oslam syndrome	HP:0002974|Radioulnar synostosis;HP:0000670|Carious teeth;HP:0004322|Short stature;HP:0001874|Abnormality of neutrophils;HP:0005518|Increased mean corpuscular volume;HP:0004209|Clinodactyly of the 5th finger;HP:0002669|Osteosarcoma
nodular regenerative hyperplasia of the liver	HP:0006707|Abnormality of the hepatic vasculature;HP:0001409|Portal hypertension
visceral myopathy, familial, with external ophthalmoplegia	HP:0000544|CPEO;HP:0004395|Malnutrition;HP:0001939|Laboratory abnormality;HP:0002027|Abdominal pain;HP:0005203|Spontaneous esophageal rupture;HP:0003270|Distended abdomen;HP:0002578|Gastroparesis;HP:0009830|Peripheral neuritis;HP:0000508|Drooping upper eyelid;HP:0000602|Ophthalmoplegia
axial mesodermal dysplasia spectrum	HP:0000470|Short neck;HP:0000078|Abnormality of the genital system;HP:0002023|Anal atresia;HP:0004322|Short stature;HP:0002019|Constipation;HP:0001562|Oligohydramnios;HP:0002575|Tracheoesophageal fistula;HP:0012718|Morphological abnormality of the gastrointestinal tract;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0012732|Anorectal anomaly;HP:0008678|Renal hypoplasia/aplasia;HP:0000079|Abnormality of the urinary system;HP:0000347|Micrognathia;HP:0000707|Abnormality of the nervous system;HP:0000126|Hydronephrosis;HP:0000107|Renal cyst;HP:0000921|Missing ribs;HP:0000316|Hypertelorism;HP:0000069|Abnormality of the ureter;HP:0002120|Cerebral cortical atrophy;HP:0000772|Abnormality of the ribs;HP:0000008|Abnormality of female internal genitalia;HP:0000384|Preauricular skin tag;HP:0000924|Abnormality of the skeletal system;HP:0002020|Gastroesophageal reflux;HP:0000324|Facial asymmetry;HP:0003312|Abnormal form of the vertebral bodies;HP:0002650|Scoliosis;HP:0001539|Omphalocele;HP:0001622|Premature birth;HP:0001392|Abnormality of the liver;HP:0001140|Epibulbar dermoid;HP:0002815|Abnormality of the knee;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0003422|Vertebral segmentation defect;HP:0100542|Abnormal localization of kidney;HP:0002242|Abnormality of the intestine;HP:0000212|Gingival overgrowth;HP:0008551|Microtia;HP:0000238|Hydrocephalus;HP:0001743|Abnormality of the spleen;HP:0000776|Congenital diaphragmatic hernia
immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency	HP:0001875|Neutropenia;HP:0007499|Recurrent staphylococcal infections;HP:0002718|Recurrent bacterial infections;HP:0005366|Recurrent streptococcus pneumoniae infections;HP:0002721|Immunodeficiency
small cell carcinoma of the bladder	HP:0100518|Dysuria;HP:0003072|Hypercalcemia;HP:0009725|Bladder neoplasm;HP:0002027|Abdominal pain;HP:0000790|Hematuria;HP:0000010|Recurrent urinary tract infections
isolated brachycephaly	HP:0009701|Metacarpal synostosis;HP:0000520|Proptosis;HP:0011800|Midface retrusion;HP:0000316|Hypertelorism;HP:0000365|Hearing impairment;HP:0000248|Brachycephaly;HP:0001249|Intellectual disability;HP:0002516|Increased intracranial pressure;HP:0009891|Underdeveloped supraorbital ridges;HP:0000337|Broad forehead;HP:0001156|Brachydactyly syndrome
hirschsprung disease with type d brachydactyly	HP:0002251|Hirschsprung megacolon;HP:0009778|Small thumbs;HP:0005627|Type D brachydactyly
central congenital hypothyroidism	HP:0000818|Abnormality of the endocrine system;HP:0000239|Large fontanelles;HP:0012378|Fatigue;HP:0001615|Hoarse cry;HP:0002019|Constipation;HP:0100842|Septo-optic dysplasia;HP:0000750|Delayed speech and language development;HP:0001537|Umbilical hernia;HP:0000158|Macroglossia;HP:0000952|Jaundice;HP:0011968|Feeding difficulties;HP:0000271|Abnormality of the face;HP:0000175|Cleft palate;HP:0002360|Sleep disturbance;HP:0000202|Oral cleft;HP:0003270|Abdominal distention;HP:0000864|Abnormality of the hypothalamus-pituitary axis;HP:0000958|Dry skin;HP:0000716|Depression;HP:0000280|Coarse facial features;HP:0001252|Muscular hypotonia;HP:0001231|Abnormality of the fingernails;HP:0000534|Abnormality of the eyebrow;HP:0000821|Hypothyroidism;HP:0011787|Central hypothyroidism
ulnar hypoplasia with lobster-claw deformity of feet	HP:0003022|Short ulna;HP:0001839|Foot ectrodactyly;HP:0009381|Hypoplastic fingers
encephalopathy, recurrent, of childhood	HP:0001252|Hypotonia;HP:0002080|Intention tremor;HP:0001254|Lethargy;HP:0001284|Areflexia;HP:0007335|Recurrent encephalopathy;HP:0001266|Choreoathetosis;HP:0003487|Extensor plantar reflexes;HP:0002311|Incoordination;HP:0001260|Dysarthric speech;HP:0002078|Truncal ataxia;HP:0002305|Involuntary writhing movements
motor neuropathy, peripheral, with dysautonomia	HP:0000975|Increased sweating;HP:0011096|Demyelination;HP:0002459|Dysautonomia;HP:0002571|Achalasia;HP:0003323|Muscle weakness, progressive;HP:0001278|Orthostatic hypotension;HP:0003202|Neurogenic muscle atrophy, especially in the lower limbs;HP:0009830|Peripheral neuritis;HP:0000762|Decreased NCV
spondylocostal dysostosis with anal atresia and urogenital anomalies	HP:0002023|Anal atresia;HP:0002089|Hypoplastic lungs;HP:0000068|Urethral atresia;HP:0002946|Supernumerary vertebrae;HP:0000042|Absent external genitalia;HP:0001562|Oligohydramnios;HP:0000316|Increased distance between eye sockets;HP:0000921|Absent ribs;HP:0003250|Aplasia of the vagina;HP:0000470|Decreased cervical height;HP:0000126|Hydronephrosis;HP:0000151|uterus absent;HP:0000773|Rib hypoplasia;HP:0002650|Scoliosis;HP:0003270|Distended abdomen;HP:0000902|Rib fusion;HP:0000268|Dolichocephaly;HP:0000023|Inguinal hernia;HP:0003305|Block vertebrae;HP:0000883|Slender ribs;HP:0001195|Single umbilical artery;HP:0002937|Hemivertebra
keratosis follicularis, dwarfism, and cerebral atrophy	HP:0000252|Small head circumference;HP:0002059|Degeneration of cerebrum;HP:0002223|Absent eyebrow;HP:0000561|Absent eyelashes;HP:0003510|Proportionate dwarfism;HP:0007439|Generalized keratosis follicularis
otoonychoperoneal syndrome	HP:0001256|Intellectual disability, mild;HP:0001597|Abnormality of the nail;HP:0001371|Flexion contracture;HP:0006466|Ankle contracture;HP:0000582|Upslanted palpebral fissure;HP:0011039|Abnormality of the helix;HP:0006492|Aplasia/Hypoplasia of the fibula;HP:0009738|Abnormality of the antihelix;HP:0003273|Flexion contracture of hips;HP:0000598|Ear anomaly;HP:0006380|Knee flexion contracture;HP:0000400|Macrotia;HP:0008577|Underfolded helix;HP:0009906|Aplasia/Hypoplasia of the earlobes;HP:0006380|Contractures of knees;HP:0000268|Dolichocephaly;HP:0001270|Motor retardation;HP:0009756|Popliteal pterygium;HP:0000940|Abnormal diaphysis morphology
pilodental dysplasia with refractive errors	HP:0011065|Peg-shaped incisors;HP:0000968|Ectodermal dysplasia;HP:0001597|Abnormality of the nail;HP:0002209|Scalp hair, thinning;HP:0007588|Reticulate hyperpigmentation;HP:0002299|Brittle hair;HP:0000431|Broad nasal root;HP:0000540|Hypermetropia;HP:0000668|Failure of development of between one and six teeth;HP:0007502|Hyperkeratosis follicularis
48,xxxy syndrome	HP:0000028|Cryptorchidism;HP:0000670|Carious teeth;HP:0000470|Short neck;HP:0001263|Global developmental delay;HP:0000682|Abnormality of dental enamel;HP:0000581|Blepharophimosis;HP:0000027|Azoospermia;HP:0002019|Constipation;HP:0000248|Brachycephaly;HP:0008734|Decreased testicular size;HP:0005930|Abnormality of epiphysis morphology;HP:0002099|Asthma;HP:0002463|Language impairment;HP:0000135|Hypogonadism;HP:0000750|Delayed speech and language development;HP:0002205|Recurrent respiratory infections;HP:0008736|Hypoplasia of penis;HP:0000098|Tall stature;HP:0000582|Upslanted palpebral fissure;HP:0002204|Pulmonary embolism;HP:0000303|Mandibular prognathia;HP:0012433|Abnormal social behavior;HP:0002564|Malformation of the heart and great vessels;HP:0000486|Strabismus;HP:0001762|Talipes equinovarus;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0000684|Delayed eruption of teeth;HP:0000739|Anxiety;HP:0006919|Abnormal aggressive, impulsive or violent behavior;HP:0001256|Intellectual disability, mild;HP:0002020|Gastroesophageal reflux;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0000324|Facial asymmetry;HP:0000771|Gynecomastia;HP:0000457|Depressed nasal ridge;HP:0005978|Type II diabetes mellitus;HP:0004936|Venous thrombosis;HP:0002650|Scoliosis;HP:0003042|Elbow dislocation;HP:0000389|Chronic otitis media;HP:0000046|Scrotal hypoplasia;HP:0007018|Attention deficit hyperactivity disorder;HP:0004209|Clinodactyly of the 5th finger;HP:0200021|Down-sloping shoulders;HP:0000023|Inguinal hernia;HP:0000679|Taurodontia;HP:0000717|Autism;HP:0000110|Renal dysplasia;HP:0002974|Radioulnar synostosis;HP:0000789|Infertility;HP:0001513|Obesity;HP:0010807|Open bite;HP:0001337|Tremor;HP:0100753|Schizophrenia;HP:0002827|Hip dislocation;HP:0000737|Irritability;HP:0001763|Pes planus;HP:0001252|Muscular hypotonia;HP:0002673|Coxa valga
german syndrome	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0000470|Short neck;HP:0011800|Midface retrusion;HP:0002015|Dysphagia;HP:0004322|Short stature;HP:0000248|Brachycephaly;HP:0000218|High palate;HP:0005280|Depressed nasal bridge;HP:0001376|Limitation of joint mobility;HP:0000232|Everted lower lip vermilion;HP:0001004|Lymphedema;HP:0002375|Hypokinesia;HP:0000347|Micrognathia;HP:0000486|Strabismus;HP:0002167|Neurological speech impairment;HP:0001636|Tetralogy of Fallot;HP:0000062|Ambiguous genitalia;HP:0000194|Open mouth;HP:0002804|Arthrogryposis multiplex congenita;HP:0000494|Downslanted palpebral fissures;HP:0000664|Synophrys;HP:0000268|Dolichocephaly;HP:0000431|Wide nasal bridge;HP:0001004|Lymphatic obstruction;HP:0001249|Intellectual disability;HP:0000202|Oral cleft;HP:0000348|High forehead;HP:0000364|Hearing abnormality;HP:0100490|Camptodactyly of finger;HP:0001648|Cor pulmonale;HP:0001252|Muscular hypotonia;HP:0001671|Abnormality of the cardiac septa;HP:0001319|Hypotonia, in neonatal onset;HP:0000534|Abnormality of the eyebrow
trisomy 18p	HP:0000160|Narrow mouth;HP:0002553|Highly arched eyebrow;HP:0000581|Blepharophimosis;HP:0004322|Short stature;HP:0030680|Abnormality of cardiovascular system morphology;HP:0000601|Hypotelorism;HP:0010628|Facial palsy;HP:0000233|Thin vermilion border;HP:0002591|Polyphagia;HP:0000582|Upslanted palpebral fissure;HP:0000347|Micrognathia;HP:0000506|Telecanthus;HP:0002564|Malformation of the heart and great vessels;HP:0001511|Intrauterine growth retardation;HP:0000384|Preauricular skin tag;HP:0001256|Intellectual disability, mild;HP:0008689|Bilateral cryptorchidism;HP:0000252|Microcephaly;HP:0007018|Attention deficit hyperactivity disorder;HP:0001760|Abnormality of the foot;HP:0002021|Pyloric stenosis;HP:0000431|Wide nasal bridge;HP:0001167|Abnormality of finger;HP:0002705|High, narrow palate;HP:0001319|Neonatal hypotonia;HP:0040199|Flat midface;HP:0000377|Abnormality of the pinna;HP:0000340|Sloping forehead;HP:0000430|Underdeveloped nasal alae
ehlers-danlos syndrome, classic type	HP:0000157|Abnormality of the tongue;HP:0001025|Urticaria;HP:0010620|Malar prominence;HP:0001065|Striae distensae;HP:0012378|Fatigue;HP:0100543|Cognitive impairment;HP:0001704|Tricuspid valve prolapse;HP:0000541|Retinal detachment;HP:0000545|Myopia;HP:0004322|Short stature;HP:0000978|Bruising susceptibility;HP:0001166|Arachnodactyly;HP:0000592|Blue sclerae;HP:0005294|Arterial dissection;HP:0100818|Long thorax;HP:0005105|Abnormal nasal morphology;HP:0001373|Joint dislocation;HP:0000974|Hyperextensible skin;HP:0002099|Asthma;HP:0001631|Atrial septal defect;HP:0010783|Erythema;HP:0000963|Thin skin;HP:0000967|Petechiae;HP:0000987|Atypical scarring of skin;HP:0003326|Myalgia;HP:0005111|Dilatation of the ascending aorta;HP:0001537|Umbilical hernia;HP:0002097|Emphysema;HP:0003307|Hyperlordosis;HP:0009721|Shagreen patch;HP:0003298|Spina bifida occulta;HP:0005692|Joint hyperflexibility;HP:0002615|Hypotension;HP:0000822|Hypertension;HP:0100326|Immunologic hypersensitivity;HP:0010318|Aplasia/Hypoplasia of the abdominal wall musculature;HP:0200034|Papule;HP:0004372|Reduced consciousness/confusion;HP:0000286|Epicanthus;HP:0100823|Genital hernia;HP:0000275|Narrow face;HP:0002107|Pneumothorax;HP:0002650|Scoliosis;HP:0001131|Corneal dystrophy;HP:0005293|Venous insufficiency;HP:0001622|Premature birth;HP:0002758|Osteoarthritis;HP:0002808|Kyphosis;HP:0001119|Keratoglobus;HP:0100720|Hypoplasia of the ear cartilage;HP:0000431|Wide nasal bridge;HP:0002076|Migraine;HP:0000023|Inguinal hernia;HP:0002705|High, narrow palate;HP:0011830|Abnormality of oral mucosa;HP:0000168|Abnormality of the gingiva;HP:0004326|Cachexia;HP:0000691|Microdontia;HP:0001083|Ectopia lentis;HP:0001634|Mitral valve prolapse;HP:0002036|Hiatus hernia;HP:0001324|Muscle weakness;HP:0010807|Open bite;HP:0000325|Triangular face;HP:0001763|Pes planus;HP:0001063|Acrocyanosis;HP:0000964|Eczema;HP:0001252|Muscular hypotonia;HP:0009804|Reduced number of teeth;HP:0000501|Glaucoma;HP:0000768|Pectus carinatum;HP:0000689|Dental malocclusion;HP:0000091|Abnormality of the renal tubule;HP:0000482|Microcornea
nipah virus disease	HP:0001250|Seizures;HP:0003326|Myalgia;HP:0002321|Vertigo;HP:0001336|Myoclonus;HP:0012378|Fatigue;HP:0002383|Encephalitis;HP:0001337|Tremor;HP:0001259|Coma;HP:0012735|Cough;HP:0002615|Hypotension;HP:0002017|Nausea and vomiting;HP:0001945|Fever;HP:0100776|Recurrent pharyngitis;HP:0002098|Respiratory distress;HP:0002039|Anorexia;HP:0002315|Headache;HP:0000751|Personality changes
cataract, aberrant oral frenula, and growth retardation	HP:0000286|Palpebronasal fold;HP:0000191|Supernumerary oral frenum;HP:0004322|Stature below 3rd percentile;HP:0001115|Posterior polar cataract;HP:0003196|Short nose;HP:0000581|Blepharophimosis;HP:0012745|Decreased height of palpebral fissure;HP:0000463|Nostrils anteverted;HP:0000582|Upward slanting of palpebral fissures;HP:0002212|Curly hair;HP:0000508|Drooping upper eyelid;HP:0000358|Ear, posterior angulation, increased
preaxial hallucal polydactyly	HP:0001841|Preaxial polydactyly of foot;HP:0001177|Preaxial hand polydactyly;HP:0000819|Diabetes mellitus
growth factors, combined defect of	HP:0000963|Thin skin;HP:0003758|Reduced subcutaneous fat;HP:0004334|Atrophic skin;HP:0000767|Funnel chest;HP:0001371|Flexion contractures of joints;HP:0007556|Plantar hyperkeratoses;HP:0000160|Small mouth;HP:0000347|Hypoplasia of mandible;HP:0001763|Pes planus;HP:0000444|Polly beak nasal deformity;HP:0009125|Lipodystrophy;HP:0000831|Insulin-resistant diabetes mellitus
normosmic congenital hypogonadotropic hypogonadism	HP:0000028|Cryptorchidism;HP:0000786|Primary amenorrhea;HP:0000027|Azoospermia;HP:0008734|Decreased testicular size;HP:0040171|Decreased serum testosterone level;HP:0005280|Depressed nasal bridge;HP:0000869|Secondary amenorrhea;HP:0008527|Congenital sensorineural hearing impairment;HP:0000316|Hypertelorism;HP:0000134|Female hypogonadism;HP:0000002|Abnormality of body height;HP:0000118|Phenotypic abnormality;HP:0000164|Abnormality of the teeth;HP:0002231|Sparse body hair;HP:0003335|Low gonadotropins (secondary hypogonadism);HP:0030019|Increased female libido;HP:0000739|Anxiety;HP:0000013|Hypoplasia of the uterus;HP:0000175|Cleft palate;HP:0000771|Gynecomastia;HP:0000026|Male hypogonadism;HP:0003187|Breast hypoplasia;HP:0008230|Decreased testosterone in males;HP:0001608|Abnormality of the voice;HP:0000938|Osteopenia;HP:0008187|Absence of secondary sex characteristics;HP:0000939|Osteoporosis;HP:0000823|Delayed puberty;HP:0008197|Absence of pubertal development;HP:0006610|Wide intermamillary distance;HP:0000802|Impotence;HP:0002761|Generalized joint laxity;HP:0008724|Hypoplasia of the ovary;HP:0003782|Eunuchoid habitus;HP:0012385|Camptodactyly;HP:0002750|Delayed skeletal maturation;HP:0000716|Depression;HP:0000054|Micropenis;HP:0011961|Non-obstructive azoospermia
scalp defects and postaxial polydactyly	HP:0005696|Postaxial polydactyly type A;HP:0007385|Scalp aplasia cutis congenita
isolated trigonocephaly	HP:0000336|Prominent supraorbital ridges;HP:0001539|Omphalocele;HP:0000664|Synophrys;HP:0000601|Hypotelorism;HP:0000243|Trigonocephaly;HP:0000431|Wide nasal bridge
polyvalvular heart disease syndrome	HP:0001650|Aortic valve stenosis;HP:0005180|Tricuspid regurgitation;HP:0004322|Short stature;HP:0001654|Abnormality of the heart valves;HP:0000218|High palate;HP:0000678|Dental crowding;HP:0000508|Ptosis;HP:0000337|Broad forehead;HP:0000347|Micrognathia;HP:0000369|Low-set ears;HP:0000276|Long face;HP:0005692|Joint hyperflexibility;HP:0001642|Pulmonic stenosis;HP:0011675|Arrhythmia;HP:0000951|Abnormality of the skin;HP:0000448|Prominent nose;HP:0000268|Dolichocephaly;HP:0001249|Intellectual disability;HP:0000322|Short philtrum;HP:0001634|Mitral valve prolapse;HP:0002750|Delayed skeletal maturation;HP:0000377|Abnormality of the pinna;HP:0001699|Sudden death
ventricular extrasystoles with syncope, perodactyly, and robin sequence	HP:0010185|Absent/small outermost bones of toe;HP:0001279|Syncope;HP:0000494|Downward slanting palpebral fissures;HP:0006682|Premature ventricular contractions;HP:0009087|Posteriorly placed tongue;HP:0001649|Tachycardia;HP:0000201|Pierre-robin deformity;HP:0000176|Submucous cleft hard palate
trisomy 5p	HP:0008678|Renal hypoplasia/aplasia;HP:0002916|Abnormality of chromosome segregation;HP:0010864|Intellectual disability, severe;HP:0000411|Protruding ear;HP:0001513|Obesity;HP:0000256|Macrocephaly;HP:0002007|Frontal bossing;HP:0004322|Short stature;HP:0001163|Abnormality of the metacarpal bones;HP:0002650|Scoliosis;HP:0002119|Ventriculomegaly;HP:0000316|Hypertelorism;HP:0002376|Developmental regression;HP:0000268|Dolichocephaly;HP:0000311|Round face;HP:0000508|Ptosis;HP:0008736|Hypoplasia of penis
aphalangy with hemivertebrae	HP:0200113|Aphalangy of hands and feet;HP:0002089|Hypoplastic lungs;HP:0002937|Hemivertebra;HP:0010745|Absent bones of the toes;HP:0005886|Aphalangy of the hands;HP:0000119|Genitourinary abnormality;HP:0001629|Ventricular septal defects
muscular dystrophy, congenital, with infantile cataract and hypogonadism	HP:0003741|Muscular dystrophy, congenital;HP:0000518|Cataract;HP:0000135|Hypogonadism
adrenomyodystrophy	HP:0008207|Addison's disease;HP:0004322|Short stature;HP:0003198|Myopathy;HP:0012450|Chronic constipation;HP:0000079|Abnormality of the urinary system;HP:0011344|Severe global developmental delay;HP:0000021|Megacystis;HP:0001250|Seizures;HP:0003457|EMG abnormality;HP:0000485|Enlarged cornea;HP:0000119|Genitourinary abnormality;HP:0000485|Megalocornea;HP:0001508|Failure to thrive;HP:0001397|Hepatic steatosis;HP:0008291|ACTH-producing pituitary adenoma;HP:0003198|Myopathic changes;HP:0002750|Delayed skeletal maturation;HP:0002242|Abnormality of the intestine;HP:0008207|Primary adrenal insufficiency;HP:0001252|Muscular hypotonia;HP:0004349|Reduced bone mineral density;HP:0007440|Generalized hyperpigmentation
costocoracoid ligament, congenitally short	HP:0001435|Abnormality of the shoulder girdle musculature;HP:0000782|Abnormality of the scapula;HP:0200021|Rounded shoulders
frontonasal dysplasia with alar clefts	HP:0000506|Telecanthus;HP:0003191|Notched nasal alae;HP:0000430|Nasal cartilage hypoplasia
thymic-renal-anal-lung dysplasia	HP:0000818|Abnormality of the endocrine system;HP:0001939|Laboratory abnormality;HP:0008631|Ureteral dysgenesis;HP:0002023|Anal atresia;HP:0012300|Ureteral agenesis;HP:0001562|Oligohydramnios;HP:0000104|Renal agenesis;HP:0002086|Respiratory abnormality;HP:0001511|Prenatal onset growth retardation
gms syndrome	HP:0000286|Epicanthus;HP:0002093|Respiratory insufficiency;HP:0005180|Tricuspid regurgitation;HP:0000369|Low-set ears;HP:0004322|Short stature;HP:0000252|Microcephaly;HP:0001622|Premature birth;HP:0004467|Preauricular pit;HP:0000494|Downslanted palpebral fissures;HP:0005280|Depressed nasal bridge;HP:0000558|Rieger anomaly;HP:0008872|Feeding difficulties in infancy;HP:0001249|Intellectual disability
fallot complex with severe mental and growth retardation	HP:0001249|Mental retardation;HP:0001636|Tetrology of fallot;HP:0001719|Double-outlet right ventricle;HP:0001508|Weight faltering;HP:0001629|Ventricular septal defects;HP:0001642|Pulmonic stenosis;HP:0000271|Abnormal face
irvan syndrome	HP:0007917|Tractional retinal detachment;HP:0007906|Increased intraocular pressure;HP:0000541|Retinal detachment;HP:0100832|Vitreous floaters;HP:0000613|Photophobia;HP:0040049|Macular edema;HP:0000648|Optic atrophy;HP:0001147|Retinal exudate;HP:0000501|Glaucoma;HP:0000622|Blurred vision;HP:0007663|Reduced visual acuity
primary congenital hypothyroidism	HP:0001263|Global developmental delay;HP:0003270|Abdominal distention;HP:0008188|Thyroid dysgenesis;HP:0002045|Hypothermia;HP:0000239|Large fontanelles;HP:0001537|Umbilical hernia;HP:0004322|Short stature;HP:0000158|Macroglossia;HP:0000280|Coarse facial features;HP:0001252|Muscular hypotonia;HP:0000952|Jaundice;HP:0000821|Hypothyroidism;HP:0002360|Sleep disturbance;HP:0011968|Feeding difficulties;HP:0000271|Abnormality of the face;HP:0001249|Intellectual disability
adactylia, unilateral	HP:0009776|Adactyly;HP:0009778|Small thumbs;HP:0001597|Abnormality of the nail
macrosomia with microphthalmia, lethal	HP:0000568|Abnormally small globe of eye;HP:0009099|Central cleft palate;HP:0001520|Birthweight > 90th percentile;HP:0004880|Respiratory infections in early life
chromosome 1q21.1 duplication syndrome	HP:0001250|Seizures;HP:0000717|Autism;HP:0002079|Hypoplasia of the corpus callosum;HP:0100753|Schizophrenia;HP:0000256|Macrocrania;HP:0001328|Specific learning disability;HP:0000316|Increased distance between eye sockets;HP:0001256|Mild mental retardation;HP:0002007|Frontal protruberance
aortic arch defects	HP:0002093|Respiratory insufficiency;HP:0012303|Abnormality of the aortic arch;HP:0002099|Asthma;HP:0002104|Apnea;HP:0008872|Feeding difficulties in infancy;HP:0002205|Recurrent respiratory infections
immunodeficiency due to defect in mapbp-interacting protein	HP:0002850|Decreased IgM level;HP:0004322|Stature below 3rd percentile;HP:0002721|Immunodeficiency;HP:0000280|Coarse facial features;HP:0001010|Hypopigmentation of the skin;HP:0006538|Recurrent bronchopulmonary infections;HP:0001875|Neutropenia
blepharoptosis, myopia, and ectopia lentis	HP:0001083|Dislocated lenses;HP:0007800|Increased front to back length of eyeball;HP:0000545|Near sightedness;HP:0007970|Congenital ptosis
cryptomicrotia-brachydactyly syndrome	HP:0001800|Underdeveloped toenails;HP:0005872|Brachytelomesophalangy;HP:0008551|Hypoplasia of the external ear;HP:0000048|Bifid scrotum;HP:0000041|Chordee
coumarin resistance	HP:0001939|Laboratory abnormality;HP:0001871|Abnormality of blood and blood-forming tissues
macrocephaly, benign familial	HP:0000256|Macrocrania;HP:0004422|Biparietal narrowing;HP:0002007|Frontal protruberance;HP:0000343|Vertical hyperplasia of philtrum;HP:0000268|Dolichocephaly;HP:0002119|Ventricular dilatation
weill-marchesani-like syndrome	HP:0000501|Glaucoma;HP:0001083|Dislocated lenses;HP:0004322|Stature below 3rd percentile
brachydactyly, long-thumb type	HP:0011675|Arrhythmias;HP:0009381|Hypoplastic fingers;HP:0001367|Anomaly of the joints
nevi flammei, familial multiple	HP:0001052|port-wine stain
ring chromosome 7	HP:0001317|Abnormality of the cerebellum;HP:0001357|Plagiocephaly;HP:0000160|Narrow mouth;HP:0009237|Short 5th finger;HP:0001238|Slender finger;HP:0002553|Highly arched eyebrow;HP:0003196|Short nose;HP:0004322|Short stature;HP:0002119|Ventriculomegaly;HP:0000248|Brachycephaly;HP:0000601|Hypotelorism;HP:0008846|Severe intrauterine growth retardation;HP:0001000|Abnormality of skin pigmentation;HP:0000233|Thin vermilion border;HP:0009933|Narrow naris;HP:0030148|Heart murmur;HP:0000954|Single transverse palmar crease;HP:0001360|Holoprosencephaly;HP:0007687|Unilateral ptosis;HP:0001696|Situs inversus totalis;HP:0000135|Hypogonadism;HP:0000047|Hypospadias;HP:0000034|Hydrocele testis;HP:0004425|Flat forehead;HP:0012368|Flat face;HP:0000303|Mandibular prognathia;HP:0001270|Motor delay;HP:0009088|Speech articulation difficulties;HP:0000193|Bifid uvula;HP:0000486|Strabismus;HP:0001488|Bilateral ptosis;HP:0007481|Hyperpigmented nevi;HP:0002120|Cerebral cortical atrophy;HP:0011344|Severe global developmental delay;HP:0000329|Facial hemangioma;HP:0000271|Abnormality of the face;HP:0000494|Downslanted palpebral fissures;HP:0002861|Melanoma;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0009899|Prominent crus of helix;HP:0000932|Abnormality of the posterior cranial fossa;HP:0009099|Median cleft palate;HP:0000294|Low anterior hairline;HP:0000252|Microcephaly;HP:0004619|Lumbar kyphoscoliosis;HP:0009779|3-4 toe syndactyly;HP:0000272|Malar flattening;HP:0002857|Genu valgum;HP:0000431|Wide nasal bridge;HP:0000565|Esotropia;HP:0200055|Small hand;HP:0004209|Clinodactyly of the 5th finger;HP:0000322|Short philtrum;HP:0000957|Cafe-au-lait spot;HP:0000426|Prominent nasal bridge;HP:0000463|Anteverted nares;HP:0000385|Small earlobe
cataract-alopecia-sclerodactyly syndrome	HP:0000962|Hyperkeratosis;HP:0000958|Xerosis;HP:0000972|Thick palms and soles;HP:0007418|Alopecia totalis;HP:0100490|Camptodactyly of finger;HP:0009775|Amniotic constriction ring;HP:0002164|Nail dysplasia;HP:0008404|Dystrophic nails;HP:0011838|Sclerodactyly;HP:0000519|Cataracts, lenticular, bilateral;HP:0001041|Blushing
wilms tumor and radial bilateral aplasia	HP:0002667|Wilms tumor
alopecia congenita with keratosis palmoplantaris	HP:0001596|Hair loss;HP:0008391|Poor fingernail formation;HP:0002164|Nail dysplasia;HP:0000972|Thick palms and soles;HP:0001000|Pigmentary changes
hypoglossia-hypodactylia	HP:0000286|Palpebronasal fold;HP:0000171|Hypoglossia;HP:0001171|Hand ectrodactyly;HP:0012730|Aglossia;HP:0000160|Small mouth;HP:0000347|Hypoplasia of mandible;HP:0000190|Abnormality of oral frenula;HP:0000278|Receding lower jaw;HP:0009776|Adactyly
achard syndrome	HP:0001166|Long, slender fingers;HP:0000248|Brachycephaly;HP:0000347|Hypoplasia of mandible;HP:0001388|Joint laxity;HP:0002682|Broad skull
hec syndrome	HP:0100673|Vaginal hydrocele;HP:0000615|Abnormality of the pupil;HP:0002093|Respiratory insufficiency;HP:0008046|Abnormality of the retinal vasculature;HP:0001706|Endocardial fibroelastosis;HP:0011675|Arrhythmia;HP:0000519|Congenital cataract;HP:0001622|Premature birth;HP:0000600|Abnormality of the pharynx;HP:0001334|Communicating hydrocephalus;HP:0000519|Cataracts, lenticular, bilateral;HP:0001561|Hydramnios;HP:0001638|Cardiomyopathy;HP:0001561|Polyhydramnios
chromosome 10q26 deletion syndrome	HP:0000028|Cryptorchidism;HP:0000486|Squint eyes;HP:0000465|Pterygium colli;HP:0000347|Hypoplasia of mandible;HP:0001770|Toe syndactyly;HP:0009466|Radially deviated phalanges;HP:0000316|Increased distance between eye sockets;HP:0000444|Polly beak nasal deformity;HP:0002136|Wide-based gait;HP:0001792|Hypoplastic nails;HP:0001363|Early fusion of cranial sutures;HP:0000343|Vertical hyperplasia of philtrum;HP:0000470|Decreased cervical height;HP:0000286|Palpebronasal fold;HP:0004322|Stature below 3rd percentile;HP:0001939|Laboratory abnormality;HP:0008897|Growth retardation as children;HP:0000369|Low-set ears;HP:0030084|Clinodactyly;HP:0002007|Frontal protruberance;HP:0001377|Restricted elbow extension;HP:0000736|Short attention span;HP:0001249|Mental retardation;HP:0000750|Late-onset speech development;HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0000454|Flared nasal alae;HP:0000324|Asymmetry of face;HP:0000252|Small head circumference;HP:0001547|Abnormality of the rib cage;HP:0001263|Developmental retardation;HP:0001518|Small for gestational age;HP:0001643|Persistent ductus arteriosus;HP:0000411|Prominent ears;HP:0000582|Upward slanting of palpebral fissures;HP:0000046|Hypoplastic scrotum;HP:0000431|Broad nasal root;HP:0000268|Dolichocephaly;HP:0006610|Wide intermamillary distance;HP:0002162|Low posterior hair line;HP:0000448|Big nose;HP:0000219|Decreased height of upper lip vermilion;HP:0000325|Triangular face;HP:0000407|sensorineural hearing loss;HP:0001328|Specific learning disability;HP:0000494|Downward slanting palpebral fissures;HP:0000076|Vesicoureteric reflux;HP:0000054|Short penis;HP:0001631|Atria septal defect;HP:0000752|Hyperactive behavior;HP:0000718|Aggressive behaviour
renal dysplasia diffuse cystic	HP:0000110|Renal dysplasia;HP:0002089|Hypoplastic lungs;HP:0004719|Hyperechogenic kidneys;HP:0000076|Vesicoureteric reflux;HP:0000800|Renal cystic dysplasia;HP:0000083|Renal insufficiency
myoclonic epilepsy of infancy	HP:0001256|Intellectual disability, mild;HP:0001263|Global developmental delay;HP:0002463|Language impairment;HP:0001326|EEG with irregular generalized spike and wave complexes;HP:0001336|Myoclonus;HP:0001112|Leber optic atrophy;HP:0007057|Poor hand-eye coordination;HP:0002301|Hemiplegia;HP:0001268|Mental deterioration;HP:0002275|Poor motor coordination;HP:0000737|Irritability;HP:0002373|Febrile seizures;HP:0007018|Attention deficit hyperactivity disorder;HP:0002376|Developmental regression;HP:0000718|Aggressive behavior;HP:0002123|Generalized myoclonic seizures;HP:0002069|Generalized tonic-clonic seizures;HP:0002121|Absence seizures;HP:0007207|Photosensitive tonic-clonic seizures;HP:0001260|Dysarthria;HP:0010862|Delayed fine motor development
ribbing disease	HP:0003034|Diaphyseal osteosclerosis
congenital factor vii deficiency	HP:0005261|Joint hemorrhage;HP:0002239|Gastrointestinal hemorrhage;HP:0000132|Menorrhagia;HP:0000421|Epistaxis;HP:0010881|Abnormality of the umbilical cord;HP:0000225|Gingival bleeding;HP:0008151|Prolonged prothrombin time;HP:0000138|Ovarian cyst;HP:0000978|Bruising susceptibility;HP:0004846|Prolonged bleeding after surgery;HP:0011891|Post-partum hemorrhage;HP:0002170|Intracranial hemorrhage
posterior column ataxia	HP:0010831|Impaired proprioception;HP:0002495|Decreased vibration sense;HP:0002650|Scoliosis;HP:0001251|Ataxia;HP:0001315|Reduced tendon reflexes
obesity due to congenital leptin deficiency	HP:0002591|Polyphagia;HP:0008724|Hypoplasia of the ovary;HP:0000786|Primary amenorrhea;HP:0000771|Gynecomastia;HP:0004926|Orthostatic hypotension due to autonomic dysfunction;HP:0008245|Pituitary hypothyroidism;HP:0001513|Obesity;HP:0000815|Hypergonadotropic hypogonadism;HP:0000842|Hyperinsulinemia;HP:0005407|Decreased number of CD4+ T cells;HP:0008230|Decreased testosterone in males;HP:0002788|Recurrent upper respiratory tract infections;HP:0008187|Absence of secondary sex characteristics;HP:0008734|Decreased testicular size;HP:0008214|Decreased serum estradiol;HP:0002155|Hypertriglyceridemia;HP:0000831|Insulin-resistant diabetes mellitus;HP:0005419|Decreased T cell activation;HP:0005616|Accelerated skeletal maturation;HP:0003292|Decreased serum leptin
summitt syndrome	HP:0001159|Webbed fingers or toes;HP:0001363|Early fusion of cranial sutures;HP:0000263|Oxycephaly;HP:0001513|Obesity
thyrotropin-releasing hormone deficiency	HP:0004322|Stature below 3rd percentile;HP:0000958|Xerosis;HP:0002750|Delayed bone maturation;HP:0001609|Hoarseness;HP:0001324|Muscular weakness;HP:0008237|Tertiary hypothyroidism;HP:0001249|Mental retardation;HP:0002019|Dyschezia
leopard syndrome 2	HP:0000286|Palpebronasal fold;HP:0004322|Stature below 3rd percentile;HP:0001003|Multiple lentigines;HP:0000303|Increased size of lower jaw;HP:0000958|Xerosis;HP:0000465|Pterygium colli;HP:0000369|Low-set ears;HP:0000766|Pectus deformity;HP:0002967|Cubitus valgus;HP:0005280|Flat, nasal bridge;HP:0000316|Increased distance between eye sockets;HP:0002212|Curly hair;HP:0000494|Downward slanting palpebral fissures;HP:0001639|Hypertrophic cardiomyopathy;HP:0000179|Plump lower lip;HP:0000268|Dolichocephaly;HP:0000470|Decreased cervical height;HP:0000957|Cafe-au-lait macules
lentiginosis, inherited patterned	HP:0001034|Hyperpigmented spots
congenital fibrinogen deficiency	HP:0002179|Opisthotonus;HP:0100759|Clubbing of fingers;HP:0000568|Microphthalmia;HP:0030680|Abnormality of cardiovascular system morphology;HP:0000978|Bruising susceptibility;HP:0002027|Abdominal pain;HP:0008734|Decreased testicular size;HP:0000961|Cyanosis;HP:0008151|Prolonged prothrombin time;HP:0001667|Right ventricular hypertrophy;HP:0002580|Volvulus;HP:0011029|Internal hemorrhage;HP:0001649|Tachycardia;HP:0012223|Splenic rupture;HP:0012886|Hemorrhagic ovarian cyst;HP:0011884|Abnormal umbilical stump bleeding;HP:0001712|Left ventricular hypertrophy;HP:0000225|Gingival bleeding;HP:0009723|Abnormality of the subungual region;HP:0000519|Congenital cataract;HP:0001945|Fever;HP:0001933|Subcutaneous hemorrhage;HP:0001892|Abnormal bleeding;HP:0007185|Loss of consciousness;HP:0000054|Micropenis;HP:0100845|Anaphylactic shock
ichthyosis hystrix gravior	HP:0008064|Ichthyosis
chromosome 1q41-q42 deletion syndrome	HP:0000028|Cryptorchidism;HP:0000463|Nostrils anteverted;HP:0000490|Sunken eyes;HP:0004322|Stature below 3rd percentile;HP:0001762|Talipes equinovarus;HP:0000204|Cleft upper lip;HP:0002007|Frontal protruberance;HP:0000776|Diaphragmatic hernia;HP:0000175|Palatoschisis;HP:0000384|Preauricular skin tag;HP:0001249|Mental retardation;HP:0001250|Seizures;HP:0000252|Small head circumference;HP:0001263|Developmental retardation;HP:0005280|Flat, nasal bridge;HP:0000582|Upward slanting of palpebral fissures;HP:0003422|Abnormal spinal segmentation;HP:0000568|Abnormally small globe of eye;HP:0000280|Coarse facial features;HP:0008551|Hypoplasia of the external ear;HP:0001360|Single brain ventricle;HP:0000601|Closely spaced eyes
medullary cystic kidney disease 1	HP:0001997|Gout;HP:0003774|End-stage renal failure;HP:0000096|Glomerulosclerosis;HP:0000092|Tubular atrophy;HP:0005576|Renal interstitial fibrosis;HP:0003259|Increased serum creatinine;HP:0000089|Small kidneys;HP:0000822|Hypertension;HP:0005583|Disintegration of the tubular basement membrane;HP:0000127|Salt wasting;HP:0001970|Interstitial nephritis;HP:0002120|Cerebral cortical atrophy;HP:0002048|Renal cortical atrophy;HP:0004732|Impaired renal uric acid clearance;HP:0012213|Reduced creatinine clearance;HP:0001903|Anemia;HP:0002615|Low blood pressure;HP:0000108|Renal corticomedullary cystic disease
patella aplasia-hypoplasia	HP:0006443|Patellar aplasia;HP:0003065|Small patella;HP:0000951|dermatopathy
corneal-cerebellar syndrome	HP:0002503|Spinocerebellar tract degeneration;HP:0001251|Ataxia;HP:0001939|Laboratory abnormality;HP:0001131|Corneal dystrophy;HP:0001141|Severe visual impairment;HP:0007759|Cloudy cornea;HP:0001249|Mental retardation
3-methylglutaconic aciduria type 4	HP:0001263|Global developmental delay;HP:0001250|Seizures;HP:0001257|Spasticity;HP:0001873|Thrombocytopenia;HP:0002195|Dysgenesis of the cerebellar vermis;HP:0000518|Cataract;HP:0003128|Lactic acidosis;HP:0003535|3-Methylglutaconic aciduria;HP:0000252|Microcephaly;HP:0001410|Decreased liver function;HP:0000365|Hearing impairment;HP:0007730|Iris hypopigmentation;HP:0001943|Hypoglycemia;HP:0001508|Failure to thrive;HP:0001252|Muscular hypotonia;HP:0001638|Cardiomyopathy;HP:0001249|Intellectual disability
chromosome 5p13 duplication syndrome	HP:0001176|large hand;HP:0000577|Exotropia;HP:0000581|Blepharophimosis;HP:0000256|Macrocrania;HP:0000248|Brachycephaly;HP:0000316|Increased distance between eye sockets;HP:0001363|Early fusion of cranial sutures;HP:0001274|Absent corpus callosum;HP:0000733|Repetitive movements;HP:0000286|Palpebronasal fold;HP:0000369|Low-set ears;HP:0002007|Frontal protruberance;HP:0001249|Mental retardation;HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0001263|Developmental retardation;HP:0000722|Obsessive compulsive disorder;HP:0001518|Small for gestational age;HP:0002650|Scoliosis;HP:0012745|Decreased height of palpebral fissure;HP:0000218|Increased palatal height;HP:0000582|Upward slanting of palpebral fissures;HP:0000262|Tall shaped skull;HP:0000483|Astigmatism;HP:0000431|Broad nasal root;HP:0000337|Increased bitemporal dimension;HP:0002360|Sleep disturbance;HP:0000520|Anterior bulging of the globe of eye;HP:0008070|Thinned hair;HP:0002162|Low posterior hair line;HP:0000322|Short philtrum;HP:0001833|large feet;HP:0000341|Narrow bitemporal diameter;HP:0100807|Long fingers;HP:0000414|Bulbous nose;HP:0000601|Closely spaced eyes
fused mandibular incisors	HP:0000164|Abnormality of the teeth;HP:0006288|Advanced eruption of teeth
combined cellular and humoral immune defects with granulomas	HP:0005403|Decreased numbers of circulating T cells;HP:0004315|IgG deficiency;HP:0010976|B lymphocytopenia;HP:0002205|Frequent respiratory infections;HP:0005387|Combined immunodeficiency
say meyer syndrome	HP:0004442|Craniosynostosis, sagittal suture;HP:0000444|Polly beak nasal deformity;HP:0001629|Ventricular septal defects;HP:0000216|Broad secondary alveolar ridge;HP:0000286|Palpebronasal fold;HP:0004322|Stature below 3rd percentile;HP:0004209|Clinodactyly of fifth digit;HP:0000369|Low-set ears;HP:0000237|Small anterior fontanel;HP:0000358|Ear, posterior angulation, increased;HP:0001249|Mental retardation;HP:0001250|Seizures;HP:0001263|Developmental retardation;HP:0001518|Small for gestational age;HP:0004443|Lambdoid suture synostosis;HP:0000218|Increased palatal height;HP:0000431|Broad nasal root;HP:0000023|Inguinal hernia;HP:0005494|Premature posterior fontanelle closure;HP:0000341|Narrow bitemporal diameter;HP:0000243|Triangular cranium shape;HP:0000601|Closely spaced eyes
spinocerebellar ataxia 26	HP:0000639|Nystagmus;HP:0002070|Appendicular ataxia;HP:0001151|Impaired horizontal smooth pursuit;HP:0001272|Cerebellar atrophy;HP:0000641|Dysmetric eye movements;HP:0002066|Gait ataxia;HP:0002311|Incoordination;HP:0001260|Dysarthric speech;HP:0002078|Truncal ataxia
fleck retina of kandori	HP:0000662|Poor night vision
spinal intradural arachnoid cysts	HP:0000925|Abnormality of the vertebral column;HP:0010550|Paraplegia;HP:0100702|Arachnoid cyst
thyroid dyshormonogenesis 1	HP:0000821|Underactive thyroid;HP:0000853|Goitre;HP:0000158|Abnormally large tongue;HP:0000958|Xerosis;HP:0001254|Lethargy;HP:0001510|Growth deficiency;HP:0001537|Umbilical hernias;HP:0001249|Mental retardation;HP:0002019|Dyschezia
duane retraction syndrome 1	HP:0000661|Palpebral fissure narrowing on adduction;HP:0009921|Limited eye motility from Duane anomaly;HP:0000487|Congenital strabismus;HP:0000619|Convergence insufficiency;HP:0000542|Impaired ocular adduction;HP:0000634|Impaired ocular abduction
poikiloderma, hereditary sclerosing	HP:0001217|Digital clubbing;HP:0001029|Poikiloderma;HP:0007618|Subcutaneous calcification;HP:0100759|Finger clubbing
paragangliomas 3	HP:0000975|Increased sweating;HP:0030074|Chemodectoma;HP:0001962|Palpitations;HP:0002640|Hypertension associated with pheochromocytoma;HP:0006737|Pheochromocytoma, extraadrenal;HP:0003001|Glomus jugulare tumor;HP:0003334|Elevated circulating catecholamine level;HP:0001605|Vocal cord paralysis;HP:0002331|Recurrent paroxysmal headache;HP:0006748|Adrenal pheochromocytoma;HP:0001686|Loss of voice;HP:0001649|Tachycardia;HP:0000740|Episodic paroxysmal anxiety
valinemia	HP:0010910|Hypervalinemia;HP:0001508|Weight faltering;HP:0001324|Muscular weakness;HP:0002329|Drowsiness;HP:0002013|Emesis;HP:0002487|Muscle spasms
spinocerebellar ataxia 20	HP:0000639|Nystagmus;HP:0002070|Appendicular ataxia;HP:0001618|Dysphonia;HP:0007256|Abnormal pyramidal signs;HP:0001620|High pitched voice;HP:0001260|Dysarthric speech;HP:0002066|Gait ataxia;HP:0010530|Palatal myoclonus;HP:0002174|Postural tremor;HP:0007338|Hypermetric saccades
accessory deep peroneal nerve	HP:0000707|Neurological abnormality
ahumada-del castillo syndrome	HP:0002893|Pituitary adenoma;HP:0000765|Abnormality of the thorax;HP:0100829|Galactorrhoea;HP:0002690|Hyperplasia of sella turcica;HP:0000869|Secondary amenorrhea
central cloudy dystrophy of francois	HP:0001131|Corneal dystrophy;HP:0007881|Central corneal dystrophy
distal myopathy markesbery-griggs type	HP:0003376|'steppage' gait;HP:0003805|Rimmed vacuoles;HP:0003560|Muscular dystrophy;HP:0003458|EMG: myopathic abnormalities
macrothrombocytopenia progressive deafness	HP:0001902|Giant platelets;HP:0040185|Macrothrombocytopenia;HP:0003010|Increased bleeding time;HP:0000079|Urinary tract anomalies;HP:0000408|Bilateral progressive sensorineural hearing loss;HP:0000478|Abnormal eye;HP:0000978|Bruisability
split-hand/foot malformation 6	HP:0006101|Finger syndactyly;HP:0001171|Hand ectrodactyly;HP:0001849|Missing toes;HP:0001770|Toe syndactyly;HP:0001180|Hand oligodactyly;HP:0001839|Foot ectrodactyly
thrombophilia due to activated protein c resistance	HP:0002625|Blood clot in a deep vein;HP:0003645|Delayed thromboplastin generation;HP:0100602|Pre-eclampsia;HP:0100724|Hypercoagulability;HP:0012175|Resistance to activated protein C
3 alpha methylcrotonyl-coa carboxylase 2 deficiency	HP:0001252|Hypotonia;HP:0001993|Ketoacidosis;HP:0001596|Hair loss;HP:0003108|High urine glycine levels;HP:0001051|Seborrheic dermatitis;HP:0003202|Neurogenic muscle atrophy, especially in the lower limbs;HP:0003353|Propionyl-CoA carboxylase deficiency;HP:0001992|Organic aciduria
charcot-marie-tooth disease, type 2d	HP:0003393|Thenar muscle atrophy;HP:0003426|First dorsal interossei muscle atrophy;HP:0001765|Hammertoes;HP:0003484|Upper limb muscle weakness;HP:0003693|Muscle atrophy, distal;HP:0002936|Decreased distal sensation;HP:0003435|Cold-induced hand cramps;HP:0003427|Thenar muscle weakness;HP:0001265|Decreased tendon reflexes;HP:0002650|Scoliosis;HP:0003392|First dorsal interossei muscle weakness;HP:0001761|Pes cavus;HP:0009129|Amyotrophy involving the upper limbs
autoimmune lymphoproliferative syndrome, type iib	HP:0001744|Splenomegaly;HP:0004322|Stature below 3rd percentile;HP:0005419|Defective T cell activation;HP:0005425|Recurrent sinopulmonary infections;HP:0002028|Chronic diarrhea;HP:0001508|Weight faltering;HP:0005384|Defective B cell activation;HP:0002090|Pneumonia;HP:0000964|Eczema;HP:0002716|Lymph node hyperplasia;HP:0002099|Asthma
deafness, autosomal recessive 49	HP:0000399|Prelingual sensorineural hearing impairment
split-hand/foot malformation with long bone deficiency 1	HP:0009556|Absent tibia;HP:0001171|Hand ectrodactyly;HP:0006495|Hypoplasia or unilateral/bilateral absence of ulna;HP:0010109|Hypoplastic big toes;HP:0001839|Foot ectrodactyly;HP:0000378|Cupped ear;HP:0006443|Patellar aplasia;HP:0004058|Hand monodactyly;HP:0005632|Absent forearm
deafness, autosomal recessive 28	HP:0008625|Severe sensorineural deafness
lipase deficiency, combined	HP:0001939|Laboratory abnormality
immunodeficiency with hyper-igm, type 3	HP:0004315|IgG deficiency;HP:0002959|Impaired B-lymphocyte isotype switching;HP:0003496|Increased levels of IgM;HP:0002718|Recurrent pyogenic infections;HP:0005479|Decreased IgE;HP:0002721|Immunodeficiency;HP:0002847|Impaired memory B-cell generation;HP:0001875|Neutropenia;HP:0002849|Lymphoid germinal center defect;HP:0002720|Decreased immunoglobulin A
campomelia, cumming type	HP:0005562|Multiple renal cysts;HP:0006487|Bowing of the long bones;HP:0001562|Oligohydramnios;HP:0010781|Skin dimples;HP:0100760|Clubbing of toes;HP:0007495|Prematurely aged appearance;HP:0001004|Lymphedema;HP:0001789|Hydrops fetalis;HP:0001156|Brachydactyly syndrome;HP:0002652|Skeletal dysplasia;HP:0002564|Malformation of the heart and great vessels;HP:0008056|Aplasia/Hypoplasia affecting the eye;HP:0001522|Death in infancy;HP:0001737|Pancreatic cysts;HP:0000772|Abnormality of the ribs;HP:0100569|Abnormal vertebral ossification;HP:0000476|Cystic hygroma;HP:0000175|Cleft palate;HP:0000003|Multicystic kidney dysplasia;HP:0002240|Hepatomegaly;HP:0000268|Dolichocephaly;HP:0002242|Abnormality of the intestine;HP:0002863|Myelodysplasia;HP:0000765|Abnormality of the thorax;HP:0000280|Coarse facial features;HP:0001732|Abnormality of the pancreas;HP:0002983|Micromelia
spondyloepimetaphyseal dysplasia, shohat type	HP:0002938|Lumbar hyperlordosis;HP:0000470|Short neck;HP:0003097|Short femur;HP:0005930|Abnormality of epiphysis morphology;HP:0000233|Thin vermilion border;HP:0005280|Depressed nasal bridge;HP:0002645|Wormian bones;HP:0010306|Short thorax;HP:0002970|Genu varum;HP:0010656|Abnormal epiphyseal ossification;HP:0005692|Joint hyperflexibility;HP:0000772|Abnormality of the ribs;HP:0001288|Gait disturbance;HP:0003180|Flat acetabular roof;HP:0002240|Hepatomegaly;HP:0000926|Platyspondyly;HP:0000311|Round face;HP:0003270|Abdominal distention;HP:0001744|Splenomegaly;HP:0100866|Short iliac bones;HP:0003510|Severe short stature;HP:0002651|Spondyloepimetaphyseal dysplasia;HP:0003016|Metaphyseal widening;HP:0002983|Micromelia
dermatoosteolysis, kirghizian type	HP:0008391|Dystrophic fingernails;HP:0001597|Abnormality of the nail;HP:0002829|Arthralgia;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0001810|Dystrophic toenail;HP:0001155|Abnormality of the hand;HP:0008368|Tarsal synostosis;HP:0000662|Nyctalopia;HP:0002650|Scoliosis;HP:0000677|Oligodontia;HP:0003019|Abnormality of the wrist;HP:0000164|Abnormality of the teeth;HP:0001945|Fever;HP:0002758|Osteoarthritis;HP:0200042|Skin ulcer;HP:0000491|Keratitis;HP:0001760|Abnormality of the foot;HP:0002797|Osteolysis;HP:0000944|Abnormality of the metaphyses;HP:0000940|Abnormal diaphysis morphology;HP:0001156|Brachydactyly syndrome
diethylstilbestrol syndrome	HP:0000013|Hypoplasia of the uterus;HP:0000028|Cryptorchidism;HP:0000047|Hypospadias;HP:0100650|Vaginal neoplasm;HP:0000130|Abnormality of the uterus;HP:0030424|Epididymal cyst;HP:0008209|Premature ovarian failure;HP:0001518|Small for gestational age;HP:0000868|Decreased fertility in females;HP:0100602|Preeclampsia;HP:0012243|Abnormal genital system morphology;HP:0001622|Premature birth;HP:0002871|Central apnea;HP:0000054|Micropenis;HP:0008715|Testicular dysgenesis;HP:0003002|Breast carcinoma;HP:0002861|Melanoma;HP:0000035|Abnormality of the testis
ophthalmomandibulomelic dysplasia	HP:0002974|Radioulnar synostosis;HP:0007957|Corneal opacity;HP:0006501|Aplasia/Hypoplasia of the radius;HP:0000618|Blindness;HP:0005048|Synostosis of carpal bones;HP:0003042|Elbow dislocation;HP:0005446|Obtuse angle of mandible;HP:0006441|Lateral humeral condyle aplasia;HP:0001376|Limitation of joint mobility;HP:0000485|Megalocornea;HP:0006055|Ulnar deviated club hands;HP:0003027|Mesomelia;HP:0006439|Radioulnar dislocation;HP:0009773|Symphalangism affecting the phalanges of the hand;HP:0100490|Camptodactyly of finger;HP:0000501|Glaucoma;HP:0012478|Temporomandibular joint ankylosis;HP:0002983|Micromelia;HP:0004348|Abnormality of bone mineral density
ear-patella-short stature syndrome	HP:0000028|Cryptorchidism;HP:0000160|Narrow mouth;HP:0001263|Global developmental delay;HP:0002094|Dyspnea;HP:0000356|Abnormality of the outer ear;HP:0000039|Epispadias;HP:0000365|Hearing impairment;HP:0011267|Microtia, third degree;HP:0005930|Abnormality of epiphysis morphology;HP:0000358|Posteriorly rotated ears;HP:0002098|Respiratory distress;HP:0008736|Hypoplasia of penis;HP:0000047|Hypospadias;HP:0000347|Micrognathia;HP:0000369|Low-set ears;HP:0000193|Bifid uvula;HP:0005692|Joint hyperflexibility;HP:0001511|Intrauterine growth retardation;HP:0000772|Abnormality of the ribs;HP:0000059|Hypoplastic labia majora;HP:0012471|Thick vermilion border;HP:0009892|Anotia;HP:0011968|Feeding difficulties;HP:0001510|Growth delay;HP:0000413|Atresia of the external auditory canal;HP:0009939|Mandibular aplasia;HP:0000175|Cleft palate;HP:0000327|Hypoplasia of the maxilla;HP:0006660|Aplastic clavicles;HP:0000252|Microcephaly;HP:0003042|Elbow dislocation;HP:0001508|Failure to thrive;HP:0004209|Clinodactyly of the 5th finger;HP:0006443|Patellar aplasia;HP:0000060|Clitoral hypoplasia;HP:0000278|Retrognathia;HP:0003100|Slender long bone;HP:0000064|Hypoplastic labia minora;HP:0002705|High, narrow palate;HP:0001249|Intellectual disability;HP:0001363|Craniosynostosis;HP:0003510|Severe short stature;HP:0100783|Breast aplasia;HP:0002750|Delayed skeletal maturation;HP:0002878|Respiratory failure;HP:0100490|Camptodactyly of finger;HP:0001328|Specific learning disability;HP:0008665|Clitoral hypertrophy;HP:0000176|Submucous cleft hard palate
triphalangeal thumbs with brachyectrodactyly	HP:0009536|Hypoplastic index finger phalanges;HP:0001199|Triphalangeal thumb;HP:0001839|Foot ectrodactyly;HP:0001171|Hand ectrodactyly;HP:0005643|Short third toe
ectodermal dysplasia with natal teeth, turnpenny type	HP:0000653|Hypotrichosis of eyelashes;HP:0001597|Abnormality of the nail;HP:0000968|Ectodermal dysplasia;HP:0007515|Hypoplastic pilosebaceous units;HP:0000677|Failure of development of more than six teeth;HP:0004322|Stature below 3rd percentile;HP:0100038|Slow-growing scalp hair;HP:0002209|Scalp hair, thinning;HP:0004482|Macrocephaly, relative;HP:0000956|Keratosis nigricans;HP:0004437|Hyperostosis of cranial bones;HP:0007387|Hypoplastic sweat glands;HP:0000535|Thin, sparse eyebrows;HP:0000695|Natal teeth;HP:0000668|Failure of development of between one and six teeth
anophthalmia plus syndrome	HP:0002744|Bilateral cleft lip and palate;HP:0000175|Cleft palate;HP:0003422|Vertebral segmentation defect;HP:0000581|Blepharophimosis;HP:0000528|Anophthalmia;HP:0000316|Hypertelorism;HP:0000453|Choanal atresia;HP:0000368|Low-set, posteriorly rotated ears;HP:0009906|Aplasia/Hypoplasia of the earlobes;HP:0000625|Cleft eyelid;HP:0002414|Spina bifida;HP:0005105|Abnormal nasal morphology;HP:0100335|Non-midline cleft lip;HP:0004097|Deviation of finger;HP:0002006|Facial cleft;HP:0000612|Iris coloboma
coronary artery dissection, spontaneous	HP:0001939|Laboratory abnormality;HP:0006702|Spontaneous coronary artery dissection
cerebro-oculo-nasal syndrome	HP:0000050|Hypoplastic male external genitalia;HP:0002079|Hypoplasia of the corpus callosum;HP:0003196|Short nose;HP:0000463|Nostrils anteverted;HP:0000256|Macrocrania;HP:0000248|Brachycephaly;HP:0000316|Increased distance between eye sockets;HP:0001363|Early fusion of cranial sutures;HP:0000286|Palpebronasal fold;HP:0009891|Flat supraorbital margins;HP:0000369|Low-set ears;HP:0000426|Protruding bridge of nose;HP:0002084|Bifid skull;HP:0000535|Thin, sparse eyebrows;HP:0002007|Frontal protruberance;HP:0001320|Hypoplasia of the cerebellar vermis;HP:0000175|Palatoschisis;HP:0000189|Decreased transverse dimension of palate;HP:0002714|Downturned corners of mouth;HP:0000358|Ear, posterior angulation, increased;HP:0001249|Mental retardation;HP:0001162|Postaxial polydactyly of fingers;HP:0010806|U-Shaped upper lip vermilion;HP:0000528|Absence of eyeballs;HP:0006315|Single central upper incisor;HP:0000218|Increased palatal height;HP:0000653|Hypotrichosis of eyelashes;HP:0000272|Depressed malar region;HP:0000238|Nonsyndromal hydrocephalus;HP:0000289|Broad philtrum;HP:0011220|Prominent forehead
recombinant 8 syndrome	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0000050|Hypoplastic male external genitalia;HP:0000356|Abnormality of the outer ear;HP:0001629|Ventricular septal defect;HP:0004378|Abnormality of the anus;HP:0000365|Hearing impairment;HP:0000464|Abnormality of the neck;HP:0005280|Depressed nasal bridge;HP:0100729|Large face;HP:0000767|Pectus excavatum;HP:0000766|Abnormality of the sternum;HP:0001631|Atrial septal defect;HP:0001257|Spasticity;HP:0007598|Bilateral single transverse palmar creases;HP:0000347|Micrognathia;HP:0000369|Low-set ears;HP:0002564|Malformation of the heart and great vessels;HP:0000316|Hypertelorism;HP:0000204|Cleft upper lip;HP:0000190|Abnormality of oral frenula;HP:0000164|Abnormality of the teeth;HP:0001636|Tetralogy of Fallot;HP:0001643|Patent ductus arteriosus;HP:0001869|Deep plantar creases;HP:0002714|Downturned corners of mouth;HP:0012471|Thick vermilion border;HP:0000478|Abnormality of the eye;HP:0001250|Seizures;HP:0000175|Cleft palate;HP:0000077|Abnormality of the kidney;HP:0002650|Scoliosis;HP:0004415|Pulmonary artery stenosis;HP:0000389|Chronic otitis media;HP:0000046|Scrotal hypoplasia;HP:0001999|Abnormal facial shape;HP:0004209|Clinodactyly of the 5th finger;HP:0006443|Patellar aplasia;HP:0001595|Abnormality of the hair;HP:0001249|Intellectual disability;HP:0002162|Low posterior hairline;HP:0000504|Abnormality of vision;HP:0001582|Redundant skin;HP:0000463|Anteverted nares;HP:0100490|Camptodactyly of finger;HP:0000212|Gingival overgrowth
chromosome 15q11-q13 duplication syndrome	HP:0000750|Late-onset speech development;HP:0001250|Seizures;HP:0000733|Repetitive movements;HP:0001249|Mental retardation;HP:0000721|Lack of spontaneous play;HP:0000728|Impaired ability to form peer relationships;HP:0003144|Increased serum serotonin;HP:0000723|Restricted behavior;HP:0002353|Abnormal EEG;HP:0000732|Inflexible adherence to routines or rituals;HP:0000758|Impaired use of nonverbal behaviors
aase-smith syndrome	HP:0001238|Slender finger;HP:0000194|Slack jawed appearance;HP:0001238|Slender fingers;HP:0001629|Ventricular septal defects;HP:0000377|Malformation of auricle;HP:0000486|Strabismus;HP:0001762|Talipes equinovarus;HP:0002828|Multiple joint contractures;HP:0000175|Palatoschisis;HP:0001305|Dandy-Walker cyst;HP:0000175|Cleft palate;HP:0002664|Neoplasm;HP:0000211|Trismus;HP:0002650|Scoliosis;HP:0003272|Abnormality of the hip bone;HP:0001305|Dandy-Walker malformation;HP:0006501|Aplasia/Hypoplasia of the radius;HP:0001371|Flexion contractures of joints;HP:0001387|Joint stiffness;HP:0006742|Congenital neuroblastoma;HP:0000238|Nonsyndromal hydrocephalus;HP:0100490|Camptodactyly of finger;HP:0000377|Abnormality of the pinna;HP:0000508|Drooping upper eyelid
lethal infantile mitochondrial myopathy	HP:0009069|Lethal infantile mitochondrial myopathy;HP:0003128|Lactic acidosis;HP:0003198|Myopathic changes
dysphasia, familial developmental	HP:0002474|Expressive language delay;HP:0002357|Dysphasia
cochleosaccular degeneration of the inner ear and progressive cataracts	HP:0000365|Hearing impairment;HP:0000707|Neurological abnormality;HP:0007834|Progressive cataract
deafness, progressive, with stapes fixation	HP:0000381|Stapes ankylosis;HP:0008513|Bilateral conductive hearing impairment
biemond syndrome type 2	HP:0000818|Abnormality of the endocrine system;HP:0001177|Preaxial hand polydactyly;HP:0004322|Stature below 3rd percentile;HP:0000238|Nonsyndromal hydrocephalus;HP:0001249|Mental retardation;HP:0000612|Iris coloboma
brachydactyly type a6	HP:0005013|Dysplastic distal radial epiphyses;HP:0009843|Aplasia/hypoplasia of middle phalanges;HP:0009803|Hypoplastic/small phalanges of the hand;HP:0004322|Stature below 3rd percentile;HP:0000925|Abnormality of the vertebral column;HP:0001500|Broad fingers;HP:0005736|Short tibia;HP:0009702|Fused carpal bones;HP:0009370|Type A brachydactyly;HP:0001831|Short toes;HP:0003038|Hypoplastic fibula;HP:0008368|Tarsal fusions;HP:0009466|Radially deviated phalanges;HP:0006135|Decreased finger movement;HP:0003027|Mesomelia;HP:0008127|Double calcaneal ossification center;HP:0002984|Hypoplastic radius;HP:0003022|Short ulna;HP:0001837|Broad toe
hydroxyprolinemia	HP:0002907|Microhematuria;HP:0001249|Mental retardation;HP:0003260|High blood hydroxyproline levels
cleft lip/palate with abnormal thumbs and microcephaly	HP:0001545|Anteriorly placed anus;HP:0004322|Stature below 3rd percentile;HP:0000252|Small head circumference;HP:0001438|Abnormality of the abdomen;HP:0002553|Highly arched eyebrow;HP:0001191|Carpal bone anomalies;HP:0001780|Abnormality of toe;HP:0000204|Cleft upper lip;HP:0000316|Increased distance between eye sockets;HP:0000824|Growth hormone deficiency;HP:0003995|Abnormality of the radial head;HP:0009601|Absent/hypoplastic thumb;HP:0000508|Drooping upper eyelid;HP:0001377|Restricted elbow extension;HP:0001249|Mental retardation;HP:0000085|Horseshoe kidney
isolated right ventricular hypoplasia	HP:0004762|Small right heart chamber
brachycephaly, deafness, cataract, microstomia, and mental retardation	HP:0000028|Cryptorchidism;HP:0000917|Pectus carinatum superiorly;HP:0002079|Hypoplasia of the corpus callosum;HP:0000518|Cataract;HP:0003196|Short nose;HP:0000365|Hearing impairment;HP:0000248|Brachycephaly;HP:0002221|Absent axillary hair;HP:0001838|Rocker bottom foot;HP:0000316|Increased distance between eye sockets;HP:0000527|Long eyelashes;HP:0000343|Vertical hyperplasia of philtrum;HP:0002059|Degeneration of cerebrum;HP:0012368|Flat face;HP:0000369|Low-set ears;HP:0000049|Shawl scrotum;HP:0000175|Palatoschisis;HP:0000358|Ear, posterior angulation, increased;HP:0001249|Mental retardation;HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0001263|Developmental retardation;HP:0000586|Shallow orbits;HP:0002650|Scoliosis;HP:0000485|Enlarged cornea;HP:0001182|Tapered finger;HP:0000046|Hypoplastic scrotum;HP:0012385|Camptodactyly;HP:0003187|Underdeveloped breasts;HP:0000272|Depressed malar region;HP:0000219|Decreased height of upper lip vermilion;HP:0000160|Small mouth;HP:0001510|Growth deficiency;HP:0000494|Downward slanting palpebral fissures;HP:0000915|Pectus excavatum of inferior sternum;HP:0008551|Hypoplasia of the external ear;HP:0001156|Brachydactyly
lethal omphalocele-cleft palate syndrome	HP:0001539|Omphalocele;HP:0000175|Palatoschisis;HP:0000193|Uvula bifida;HP:0000813|Bicornuate uterus;HP:0000238|Nonsyndromal hydrocephalus
lopes gorlin syndrome	HP:0007646|Failure of development of lower eyelashes;HP:0007697|Decreased size of lower eyelid
harrod doman keele syndrome	HP:0002705|High, narrow palate;HP:0000028|Cryptorchidism;HP:0004794|Malrotation of small bowel;HP:0003241|External genital hypoplasia;HP:0000307|Small pointed chin;HP:0000689|Misalignment of upper and lower dental arches;HP:0001999|Facial dysmorphism;HP:0000047|Hypospadias;HP:0000400|Large ears;HP:0000160|Small mouth;HP:0004734|Multiple small renal cortical cysts;HP:0001166|Long, slender fingers;HP:0001508|Weight faltering;HP:0002619|Varicose veins;HP:0002251|Hirschsprung megacolon;HP:0002021|Pyloric stenosis;HP:0003189|Elongated nose;HP:0001249|Mental retardation;HP:0000601|Closely spaced eyes
chand syndrome	HP:0002710|Pits at the corners of the lips;HP:0002164|Nail dysplasia;HP:0002212|Curly hair;HP:0009755|Eyelid synechiae
femur bifid with monodactylous ectrodactyly	HP:0009556|Absent tibia;HP:0001171|Hand ectrodactyly;HP:0010443|Bifid femur;HP:0003982|Absent ulna;HP:0200054|Foot monodactyly;HP:0004058|Hand monodactyly
myoclonus and ataxia	HP:0001251|Ataxia;HP:0003200|Ragged-red fibers;HP:0002080|Intention tremor;HP:0100321|Abnormality of the dentate nucleus;HP:0012103|Abnormality of the mitochondrion;HP:0001336|Myoclonic jerks;HP:0007132|Pallidal degeneration;HP:0002197|Generalized seizures
syndromic x-linked ichthyosis	HP:0100617|Testicular seminoma;HP:0000028|Cryptorchidism;HP:0000717|Autism;HP:0000962|Hyperkeratosis;HP:0001250|Seizures;HP:0001263|Global developmental delay;HP:0007957|Corneal opacity;HP:0000966|Hypohidrosis;HP:0000122|Unilateral renal agenesis;HP:0002357|Dysphasia;HP:0002488|Acute leukemia;HP:0004322|Short stature;HP:0001249|Intellectual disability;HP:0002577|Abnormality of the stomach;HP:0004298|Abnormality of the abdominal wall;HP:0007018|Attention deficit hyperactivity disorder;HP:0010866|Abdominal wall defect;HP:0001339|Lissencephaly;HP:0008064|Ichthyosis;HP:0000135|Hypogonadism;HP:0000083|Renal insufficiency
autosomal dominant hyperinsulinism due to sur1 deficiency	HP:0001263|Global developmental delay;HP:0002013|Vomiting;HP:0100543|Cognitive impairment;HP:0001998|Neonatal hypoglycemia;HP:0002329|Drowsiness;HP:0000825|Hyperinsulinemic hypoglycemia;HP:0001520|Large for gestational age;HP:0008163|Decreased circulating cortisol level;HP:0002344|Progressive neurologic deterioration;HP:0100503|Vitamin B1 deficiency;HP:0001254|Lethargy;HP:0002014|Diarrhea;HP:0001649|Tachycardia;HP:0004510|Pancreatic islet-cell hyperplasia;HP:0000713|Agitation;HP:0001250|Seizures;HP:0000975|Hyperhidrosis;HP:0000842|Hyperinsulinemia;HP:0001259|Coma;HP:0000252|Microcephaly;HP:0012658|Abnormal brain FDG positron emission tomography;HP:0002240|Hepatomegaly;HP:0004359|Abnormality of fatty-acid metabolism;HP:0001985|Hypoketotic hypoglycemia;HP:0000980|Pallor;HP:0008240|Secondary growth hormone deficiency
variant abeta2m amyloidosis	HP:0007267|Chronic axonal neuropathy;HP:0004926|Orthostatic hypotension due to autonomic dysfunction;HP:0002239|Gastrointestinal hemorrhage;HP:0002254|Intermittent diarrhea;HP:0002321|Vertigo;HP:0001097|Keratoconjunctivitis sicca;HP:0002607|Bowel incontinence;HP:0002019|Constipation;HP:0002028|Chronic diarrhea;HP:0001824|Weight loss;HP:0002271|Autonomic dysregulation;HP:0002579|Gastrointestinal dysmotility;HP:0005341|Autonomic bladder dysfunction;HP:0012450|Chronic constipation;HP:0000217|Xerostomia;HP:0002024|Malabsorption
hyperinsulinism due to hnf1a deficiency	HP:0002013|Vomiting;HP:0012378|Fatigue;HP:0001998|Neonatal hypoglycemia;HP:0002329|Drowsiness;HP:0000825|Hyperinsulinemic hypoglycemia;HP:0001520|Large for gestational age;HP:0002344|Progressive neurologic deterioration;HP:0001254|Lethargy;HP:0002014|Diarrhea;HP:0001649|Tachycardia;HP:0004510|Pancreatic islet-cell hyperplasia;HP:0000713|Agitation;HP:0001250|Seizures;HP:0000975|Hyperhidrosis;HP:0000842|Hyperinsulinemia;HP:0001259|Coma;HP:0004324|Increased body weight;HP:0002240|Hepatomegaly;HP:0004359|Abnormality of fatty-acid metabolism;HP:0001249|Intellectual disability;HP:0003162|Fasting hypoglycemia;HP:0001319|Neonatal hypotonia;HP:0002910|Elevated hepatic transaminases;HP:0001337|Tremor;HP:0001985|Hypoketotic hypoglycemia;HP:0000980|Pallor
distal monosomy 1q	HP:0001263|Global developmental delay;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000347|Micrognathia;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0000369|Low-set ears;HP:0004322|Short stature;HP:0000252|Microcephaly;HP:0000316|Hypertelorism;HP:0000319|Smooth philtrum;HP:0011220|Prominent forehead;HP:0000233|Thin vermilion border;HP:0005280|Depressed nasal bridge;HP:0000311|Round face;HP:0001249|Intellectual disability
autosomal dominant hyperinsulinism due to kir6.2 deficiency	HP:0001263|Global developmental delay;HP:0002013|Vomiting;HP:0100543|Cognitive impairment;HP:0001998|Neonatal hypoglycemia;HP:0002329|Drowsiness;HP:0000825|Hyperinsulinemic hypoglycemia;HP:0001520|Large for gestational age;HP:0008163|Decreased circulating cortisol level;HP:0002344|Progressive neurologic deterioration;HP:0100503|Vitamin B1 deficiency;HP:0001254|Lethargy;HP:0002014|Diarrhea;HP:0001649|Tachycardia;HP:0004510|Pancreatic islet-cell hyperplasia;HP:0000713|Agitation;HP:0001250|Seizures;HP:0000975|Hyperhidrosis;HP:0000842|Hyperinsulinemia;HP:0001259|Coma;HP:0000252|Microcephaly;HP:0012658|Abnormal brain FDG positron emission tomography;HP:0002240|Hepatomegaly;HP:0004359|Abnormality of fatty-acid metabolism;HP:0001985|Hypoketotic hypoglycemia;HP:0000980|Pallor;HP:0008240|Secondary growth hormone deficiency
hyperinsulinism due to hnf4a deficiency	HP:0002013|Vomiting;HP:0006568|Increased hepatic glycogen content;HP:0012378|Fatigue;HP:0001998|Neonatal hypoglycemia;HP:0002329|Drowsiness;HP:0000825|Hyperinsulinemic hypoglycemia;HP:0001520|Large for gestational age;HP:0000093|Proteinuria;HP:0002344|Progressive neurologic deterioration;HP:0001994|Renal Fanconi syndrome;HP:0001254|Lethargy;HP:0002014|Diarrhea;HP:0003155|Elevated alkaline phosphatase;HP:0001649|Tachycardia;HP:0004510|Pancreatic islet-cell hyperplasia;HP:0005979|Metabolic ketoacidosis;HP:0000713|Agitation;HP:0001250|Seizures;HP:0000975|Hyperhidrosis;HP:0000842|Hyperinsulinemia;HP:0001259|Coma;HP:0004324|Increased body weight;HP:0003076|Glycosuria;HP:0002240|Hepatomegaly;HP:0004359|Abnormality of fatty-acid metabolism;HP:0001249|Intellectual disability;HP:0003162|Fasting hypoglycemia;HP:0001319|Neonatal hypotonia;HP:0002910|Elevated hepatic transaminases;HP:0001337|Tremor;HP:0001985|Hypoketotic hypoglycemia;HP:0004912|Hypophosphatemic rickets;HP:0000980|Pallor
multiple epiphyseal dysplasia type 5	HP:0002829|Arthralgia;HP:0001385|Hip dysplasia;HP:0002970|Genu varum;HP:0001288|Gait disturbance;HP:0002857|Genu valgum;HP:0001387|Joint stiffness;HP:0002656|Epiphyseal dysplasia;HP:0002758|Osteoarthritis;HP:0001376|Limitation of joint mobility
1p21.3 microdeletion syndrome	HP:0400004|Long ear;HP:0001263|Global developmental delay;HP:0100716|Self-injurious behavior;HP:0003196|Short nose;HP:0000545|Myopia;HP:0000750|Delayed speech and language development;HP:0000455|Broad nasal tip;HP:0000490|Deeply set eye;HP:0000582|Upslanted palpebral fissure;HP:0000347|Micrognathia;HP:0000154|Wide mouth;HP:0100738|Abnormal eating behavior;HP:0000718|Aggressive behavior;HP:0001256|Intellectual disability, mild;HP:0000708|Behavioral abnormality;HP:0000729|Autistic behavior;HP:0000256|Macrocephaly;HP:0000293|Full cheeks;HP:0000483|Astigmatism;HP:0001249|Intellectual disability;HP:0001382|Joint hypermobility;HP:0000504|Abnormality of vision;HP:0001513|Obesity;HP:0000742|Self-mutilation;HP:0100962|Shyness
autosomal dominant spondylocostal dysostosis	HP:0000470|Short neck;HP:0010306|Short thorax;HP:0002205|Recurrent respiratory infections;HP:0000582|Upslanted palpebral fissure;HP:0000913|Posterior rib fusion;HP:0002564|Malformation of the heart and great vessels;HP:0003307|Hyperlordosis;HP:0000921|Missing ribs;HP:0003298|Spina bifida occulta;HP:0001511|Intrauterine growth retardation;HP:0000772|Abnormality of the ribs;HP:0000008|Abnormality of female internal genitalia;HP:0000175|Cleft palate;HP:0005107|Abnormality of the sacrum;HP:0000256|Macrocephaly;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0000431|Wide nasal bridge;HP:0003422|Vertebral segmentation defect;HP:0000269|Prominent occiput;HP:0003510|Severe short stature;HP:0000463|Anteverted nares
lissencephaly type 1 due to doublecortin gene mutation	HP:0001250|Seizures;HP:0010864|Intellectual disability, severe;HP:0001276|Hypertonia;HP:0011968|Feeding difficulties;HP:0001252|Muscular hypotonia
primary immunodeficiency syndrome due to p14 deficiency	HP:0002721|Immunodeficiency;HP:0005599|Hypopigmentation of hair;HP:0004322|Short stature;HP:0000280|Coarse facial features;HP:0006538|Recurrent bronchopulmonary infections;HP:0001875|Neutropenia;HP:0007443|Partial albinism
autosomal dominant optic atrophy plus syndrome	HP:0000505|Visual impairment;HP:0000486|Strabismus;HP:0000551|Abnormality of color vision;HP:0007328|Impaired pain sensation;HP:0000649|Abnormality of visual evoked potentials;HP:0000648|Optic atrophy;HP:0001315|Reduced tendon reflexes;HP:0000407|Sensorineural hearing impairment;HP:0000762|Decreased nerve conduction velocity
15q11q13 microduplication syndrome	HP:0001263|Global developmental delay;HP:0000717|Autism;HP:0000286|Epicanthus;HP:0001250|Seizures;HP:0002186|Apraxia;HP:0001251|Ataxia;HP:0000298|Mask-like facies;HP:0000256|Macrocephaly;HP:0006101|Finger syndactyly;HP:0002564|Malformation of the heart and great vessels;HP:0004322|Short stature;HP:0000722|Obsessive-compulsive behavior;HP:0005692|Joint hyperflexibility;HP:0001249|Intellectual disability;HP:0000750|Delayed speech and language development;HP:0007018|Attention deficit hyperactivity disorder;HP:0001252|Muscular hypotonia;HP:0004209|Clinodactyly of the 5th finger;HP:0000494|Downslanted palpebral fissures
multiple epiphyseal dysplasia type 1	HP:0002829|Arthralgia;HP:0003502|Mild short stature;HP:0001385|Hip dysplasia;HP:0002970|Genu varum;HP:0001288|Gait disturbance;HP:0002857|Genu valgum;HP:0002656|Epiphyseal dysplasia;HP:0002758|Osteoarthritis;HP:0001373|Joint dislocation;HP:0004279|Short palm;HP:0001376|Limitation of joint mobility;HP:0002983|Micromelia
hyperinsulinism due to ucp2 deficiency	HP:0001263|Global developmental delay;HP:0002013|Vomiting;HP:0100543|Cognitive impairment;HP:0001998|Neonatal hypoglycemia;HP:0002329|Drowsiness;HP:0000825|Hyperinsulinemic hypoglycemia;HP:0001520|Large for gestational age;HP:0002344|Progressive neurologic deterioration;HP:0100503|Vitamin B1 deficiency;HP:0001254|Lethargy;HP:0002014|Diarrhea;HP:0001649|Tachycardia;HP:0004510|Pancreatic islet-cell hyperplasia;HP:0000713|Agitation;HP:0001250|Seizures;HP:0000975|Hyperhidrosis;HP:0000842|Hyperinsulinemia;HP:0001259|Coma;HP:0002240|Hepatomegaly;HP:0004359|Abnormality of fatty-acid metabolism;HP:0001985|Hypoketotic hypoglycemia;HP:0000980|Pallor;HP:0008240|Secondary growth hormone deficiency
autosomal dominant palmoplantar keratoderma and congenital alopecia	HP:0000972|Palmoplantar hyperkeratosis;HP:0000982|Palmoplantar keratoderma;HP:0005597|Congenital alopecia totalis;HP:0100798|Fingernail dysplasia
2p21 microdeletion syndrome	HP:0003131|Cystinuria;HP:0001263|Global developmental delay;HP:0001250|Seizures;HP:0001558|Decreased fetal movement;HP:0000787|Nephrolithiasis;HP:0002007|Frontal bossing;HP:0002342|Intellectual disability, moderate;HP:0003128|Lactic acidosis;HP:0002901|Hypocalcemia;HP:0005280|Depressed nasal bridge;HP:0000368|Low-set, posteriorly rotated ears;HP:0001943|Hypoglycemia;HP:0000527|Long eyelashes;HP:0001508|Failure to thrive;HP:0001252|Muscular hypotonia;HP:0001510|Growth delay;HP:0200125|Mitochondrial respiratory chain defects;HP:0001611|Nasal speech;HP:0000135|Hypogonadism
17q11.2 microduplication syndrome	HP:0001263|Global developmental delay;HP:0000053|Macroorchidism;HP:0001250|Seizures;HP:0006297|Hypoplasia of dental enamel;HP:0000682|Abnormality of dental enamel;HP:0000535|Sparse eyebrow;HP:0004322|Short stature;HP:0000252|Microcephaly;HP:0011803|Bifid nose;HP:0001249|Intellectual disability;HP:0000272|Malar flattening;HP:0000233|Thin vermilion border;HP:0009928|Thick nasal alae;HP:0004411|Deviated nasal septum;HP:0000653|Sparse eyelashes;HP:0000750|Delayed speech and language development
cushing syndrome due to macronodular adrenal hyperplasia	HP:0000963|Thin skin;HP:0000787|Nephrolithiasis;HP:0001324|Muscle weakness;HP:0012378|Fatigue;HP:0008231|Macronodular adrenal hyperplasia;HP:0000819|Diabetes mellitus;HP:0000978|Bruising susceptibility;HP:0000939|Osteoporosis;HP:0000716|Depression;HP:0000822|Hypertension;HP:0001956|Truncal obesity;HP:0001508|Failure to thrive;HP:0002230|Generalized hirsutism;HP:0002858|Meningioma;HP:0400008|Menometrorrhagia;HP:0000311|Round face
syndromic x-linked intellectual disability due to jarid1c mutation	HP:0000028|Cryptorchidism;HP:0010864|Intellectual disability, severe;HP:0004322|Short stature;HP:0008734|Decreased testicular size;HP:0000218|High palate;HP:0000750|Delayed speech and language development;HP:0001257|Spasticity;HP:0000490|Deeply set eye;HP:0002229|Alopecia areata;HP:0000486|Strabismus;HP:0001762|Talipes equinovarus;HP:0004279|Short palm;HP:0000718|Aggressive behavior;HP:0030084|Clinodactyly;HP:0001250|Seizures;HP:0000256|Macrocephaly;HP:0000327|Hypoplasia of the maxilla;HP:0000252|Microcephaly;HP:0001182|Tapered finger;HP:0000717|Autism;HP:0000411|Protruding ear;HP:0000426|Prominent nasal bridge;HP:0001347|Hyperreflexia;HP:0100490|Camptodactyly of finger;HP:0007565|Multiple cafe-au-lait spots
encephalopathy due to prosaposin deficiency	HP:0001744|Splenomegaly;HP:0001336|Myoclonus;HP:0002093|Respiratory insufficiency;HP:0000496|Abnormality of eye movement;HP:0001332|Dystonia;HP:0001522|Death in infancy;HP:0001252|Muscular hypotonia;HP:0002240|Hepatomegaly;HP:0002069|Generalized tonic-clonic seizures;HP:0002205|Recurrent respiratory infections
distal monosomy 6p	HP:0001263|Global developmental delay;HP:0100716|Self-injurious behavior;HP:0011483|Anterior synechiae of the anterior chamber;HP:0002119|Ventriculomegaly;HP:0000365|Hearing impairment;HP:0005930|Abnormality of epiphysis morphology;HP:0005280|Depressed nasal bridge;HP:0007676|Hypoplasia of the iris;HP:0000445|Wide nose;HP:0000337|Broad forehead;HP:0001631|Atrial septal defect;HP:0000750|Delayed speech and language development;HP:0000347|Micrognathia;HP:0000369|Low-set ears;HP:0000486|Strabismus;HP:0001762|Talipes equinovarus;HP:0008499|High-grade hypermetropia;HP:0000316|Hypertelorism;HP:0000164|Abnormality of the teeth;HP:0004279|Short palm;HP:0002714|Downturned corners of mouth;HP:0009918|Ectopia pupillae;HP:0001773|Short foot;HP:0000494|Downslanted palpebral fissures;HP:0001256|Intellectual disability, mild;HP:0000286|Epicanthus;HP:0007957|Corneal opacity;HP:0000593|Abnormality of the anterior chamber;HP:0002650|Scoliosis;HP:0000627|Posterior embryotoxon;HP:0000319|Smooth philtrum;HP:0000272|Malar flattening;HP:0004209|Clinodactyly of the 5th finger;HP:0000202|Oral cleft;HP:0000322|Short philtrum;HP:0003422|Vertebral segmentation defect;HP:0000463|Anteverted nares;HP:0000501|Glaucoma;HP:0000430|Underdeveloped nasal alae
autosomal dominant charcot-marie-tooth disease type 2f	HP:0010829|Impaired temperature sensation;HP:0008944|Distal lower limb amyotrophy;HP:0003477|Peripheral axonal neuropathy;HP:0003376|Steppage gait;HP:0003445|EMG: neuropathic changes;HP:0001762|Talipes equinovarus;HP:0007340|Lower limb muscle weakness;HP:0007328|Impaired pain sensation;HP:0001315|Reduced tendon reflexes;HP:0007289|Limb fasciculations;HP:0009129|Upper limb amyotrophy;HP:0003444|EMG: chronic denervation signs
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	HP:0001061|Acne;HP:0002013|Vomiting;HP:0002805|Accelerated bone age after puberty;HP:0030014|Female sexual dysfunction;HP:0004322|Short stature;HP:0100879|Enlarged ovaries;HP:0001998|Neonatal hypoglycemia;HP:0002924|Decreased circulating aldosterone level;HP:0030348|Increased circulating androgen level;HP:0000848|Increased circulating renin level;HP:0012605|Hypernatriuria;HP:0008072|Maternal virilization in pregnancy;HP:0008163|Decreased circulating cortisol level;HP:0000855|Insulin resistance;HP:0002902|Hyponatremia;HP:0001941|Acidosis;HP:0002615|Hypotension;HP:0000822|Hypertension;HP:0008239|Adrenal medullary hypoplasia;HP:0011969|Elevated luteinizing hormone;HP:0000040|Long penis;HP:0001944|Dehydration;HP:0000718|Aggressive behavior;HP:0000062|Ambiguous genitalia;HP:0000147|Polycystic ovaries;HP:0012412|Premature adrenarche;HP:0000858|Menstrual irregularities;HP:0000063|Fused labia minora;HP:0007440|Generalized hyperpigmentation;HP:0011968|Feeding difficulties;HP:0000840|Adrenogenital syndrome;HP:0003154|Increased circulating ACTH level;HP:0000771|Gynecomastia;HP:0008256|Adrenocortical adenoma;HP:0012856|Abnormal scrotal rugation;HP:0004361|Abnormality of circulating leptin level;HP:0011106|Hypovolemia;HP:0000868|Decreased fertility in females;HP:0000057|Clitoromegaly;HP:0000061|Ambiguous genitalia, female;HP:0000939|Osteoporosis;HP:0011749|Adrenocorticotropic hormone excess;HP:0001508|Failure to thrive;HP:0002153|Hyperkalemia;HP:0004924|Abnormal oral glucose tolerance;HP:0005616|Accelerated skeletal maturation;HP:0001249|Intellectual disability;HP:0011363|Abnormality of hair growth rate;HP:0002616|Aortic root dilatation;HP:0001197|Abnormality of prenatal development or birth;HP:0008675|Enlarged polycystic ovaries;HP:0010458|Female pseudohermaphroditism;HP:0000142|Abnormality of the vagina;HP:0011742|Ectopic adrenal gland;HP:0000127|Renal salt wasting;HP:0001513|Obesity;HP:0030258|Hyperpigmented genitalia;HP:0100000|Early onset of sexual maturation;HP:0001007|Hirsutism;HP:0100779|Urogenital sinus anomaly;HP:0008258|Congenital adrenal hyperplasia;HP:0008207|Primary adrenal insufficiency;HP:0008669|Abnormal spermatogenesis;HP:0012041|Decreased fertility in males;HP:0004349|Reduced bone mineral density;HP:0000144|Decreased fertility;HP:0008232|Elevated follicle stimulating hormone
14q11.2 microdeletion syndrome	HP:0000160|Narrow mouth;HP:0002553|Highly arched eyebrow;HP:0000581|Blepharophimosis;HP:0003196|Short nose;HP:0001629|Ventricular septal defect;HP:0001770|Toe syndactyly;HP:0000218|High palate;HP:0005280|Depressed nasal bridge;HP:0005338|Sparse lateral eyebrow;HP:0000232|Everted lower lip vermilion;HP:0000337|Broad forehead;HP:0000490|Deeply set eye;HP:0000347|Micrognathia;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0001643|Patent ductus arteriosus;HP:0011344|Severe global developmental delay;HP:0001256|Intellectual disability, mild;HP:0000286|Epicanthus;HP:0002263|Exaggerated cupid's bow;HP:0001863|Toe clinodactyly;HP:0000995|Melanocytic nevus;HP:0000368|Low-set, posteriorly rotated ears;HP:0002002|Deep philtrum;HP:0000340|Sloping forehead
brain dopamine-serotonin vesicular transport disease	HP:0001263|Global developmental delay;HP:0002421|Poor head control;HP:0010553|Oculogyric crisis;HP:0000496|Abnormality of eye movement;HP:0012378|Fatigue;HP:0005484|Postnatal microcephaly;HP:0100543|Cognitive impairment;HP:0001300|Parkinsonism;HP:0001290|Generalized hypotonia;HP:0000508|Ptosis;HP:0001260|Dysarthria;HP:0011443|Abnormality of coordination;HP:0030215|Inappropriate crying;HP:0001251|Ataxia;HP:0000338|Hypomimic face;HP:0001332|Dystonia;HP:0002310|Orofacial dyskinesia;HP:0001285|Spastic tetraparesis;HP:0001276|Hypertonia;HP:0002451|Limb dystonia;HP:0000975|Hyperhidrosis;HP:0010307|Stridor;HP:0001288|Gait disturbance;HP:0002362|Shuffling gait;HP:0002075|Dysdiadochokinesis;HP:0002597|Abnormality of the vasculature;HP:0001760|Abnormality of the foot;HP:0002360|Sleep disturbance;HP:0001337|Tremor;HP:0008936|Muscular hypotonia of the trunk;HP:0001611|Nasal speech
familial alzheimer-like prion disease	HP:0000708|Behavioral abnormality;HP:0011458|Abdominal symptom;HP:0100543|Cognitive impairment;HP:0040264|Jaw pain;HP:0000716|Depression;HP:0001328|Specific learning disability;HP:0002549|Deficit in phonologic short-term memory;HP:0007018|Attention deficit hyperactivity disorder;HP:0000712|Emotional lability;HP:0000739|Anxiety;HP:0002360|Sleep disturbance;HP:0030223|Perseveration
obesity due to prohormone convertase i deficiency	HP:0002591|Polyphagia;HP:0008245|Pituitary hypothyroidism;HP:0001513|Obesity;HP:0001396|Cholestasis;HP:0002297|Red hair;HP:0000842|Hyperinsulinemia;HP:0002173|Hypoglycemic seizures;HP:0002750|Delayed skeletal maturation;HP:0008915|Childhood-onset truncal obesity;HP:0001010|Hypopigmentation of the skin;HP:0008213|Gonadotropin deficiency;HP:0000824|Growth hormone deficiency;HP:0000823|Delayed puberty;HP:0009126|Increased adipose tissue;HP:0001508|Failure to thrive;HP:0000956|Acanthosis nigricans;HP:0001510|Growth delay;HP:0011734|Central adrenal insufficiency
hyperinsulinism due to glucokinase deficiency	HP:0001250|Seizures;HP:0030794|Abnormal C-peptide level;HP:0005978|Type II diabetes mellitus;HP:0002270|Abnormality of the autonomic nervous system;HP:0001988|Recurrent hypoglycemia;HP:0001324|Muscle weakness;HP:0012378|Fatigue;HP:0001259|Coma;HP:0001985|Hypoketotic hypoglycemia;HP:0002378|Hand tremor;HP:0012638|Abnormality of nervous system physiology;HP:0000825|Hyperinsulinemic hypoglycemia;HP:0008283|Fasting hyperinsulinemia
severe x-linked mitochondrial encephalomyopathy	HP:0002376|Developmental regression;HP:0001290|Generalized hypotonia;HP:0002098|Respiratory distress;HP:0002490|Increased CSF lactate;HP:0000750|Delayed speech and language development;HP:0002375|Hypokinesia;HP:0009830|Peripheral neuropathy;HP:0001308|Tongue fasciculations;HP:0008872|Feeding difficulties in infancy;HP:0009025|Increased connective tissue;HP:0003542|Increased serum pyruvate;HP:0002093|Respiratory insufficiency;HP:0001284|Areflexia;HP:0010994|Abnormality of the striatum;HP:0011343|Moderate global developmental delay;HP:0004305|Involuntary movements;HP:0006829|Severe muscular hypotonia;HP:0003390|Sensory axonal neuropathy;HP:0000737|Irritability;HP:0002151|Increased serum lactate;HP:0003324|Generalized muscle weakness;HP:0003557|Increased variability in muscle fiber diameter;HP:0003202|Skeletal muscle atrophy
obesity due to melanocortin 4 receptor deficiency	HP:0002591|Polyphagia;HP:0005978|Type II diabetes mellitus;HP:0001513|Obesity;HP:0000842|Hyperinsulinemia;HP:0008915|Childhood-onset truncal obesity;HP:0000822|Hypertension;HP:0002155|Hypertriglyceridemia;HP:0009126|Increased adipose tissue;HP:0000956|Acanthosis nigricans
central bilateral macrogyria	HP:0001256|Intellectual disability, mild;HP:0001263|Global developmental delay;HP:0001250|Seizures;HP:0002353|EEG abnormality;HP:0001251|Ataxia;HP:0001097|Keratoconjunctivitis sicca;HP:0001347|Hyperreflexia;HP:0002167|Neurological speech impairment
ravine syndrome	HP:0001257|Spasticity;HP:0004325|Decreased body weight;HP:0001251|Ataxia;HP:0002104|Apnea;HP:0001600|Abnormality of the larynx;HP:0000932|Abnormality of the posterior cranial fossa;HP:0000496|Abnormality of eye movement;HP:0002134|Abnormality of the basal ganglia;HP:0006958|Abnormal auditory evoked potentials;HP:0002363|Abnormality of brainstem morphology;HP:0001508|Failure to thrive;HP:0002448|Progressive encephalopathy;HP:0002039|Anorexia;HP:0007366|Atrophy/Degeneration affecting the brainstem
hereditary arterial and articular multiple calcification syndrome	HP:0001717|Coronary artery calcification;HP:0012455|Large artery calcification;HP:0011025|Abnormality of cardiovascular system physiology;HP:0005116|Arterial tortuosity;HP:0012101|Decreased serum creatinine;HP:0025324|Arterial occlusion;HP:0025015|Abnormal vascular morphology
16p11.2p12.2 microdeletion syndrome	HP:0001263|Global developmental delay;HP:0005180|Tricuspid regurgitation;HP:0000581|Blepharophimosis;HP:0003196|Short nose;HP:0004322|Short stature;HP:0005285|Absent nasal bridge;HP:0000365|Hearing impairment;HP:0001770|Toe syndactyly;HP:0000601|Hypotelorism;HP:0003189|Long nose;HP:0000750|Delayed speech and language development;HP:0000752|Hyperactivity;HP:0000490|Deeply set eye;HP:0007598|Bilateral single transverse palmar creases;HP:0002342|Intellectual disability, moderate;HP:0002007|Frontal bossing;HP:0012368|Flat face;HP:0000369|Low-set ears;HP:0000276|Long face;HP:0000486|Strabismus;HP:0001511|Intrauterine growth retardation;HP:0004279|Short palm;HP:0000194|Open mouth;HP:0011968|Feeding difficulties;HP:0000494|Downslanted palpebral fissures;HP:0002020|Gastroesophageal reflux;HP:0000286|Epicanthus;HP:0011675|Arrhythmia;HP:0000389|Chronic otitis media;HP:0009623|Proximal placement of thumb;HP:0002360|Sleep disturbance;HP:0100033|Tics;HP:0000202|Oral cleft;HP:0000348|High forehead;HP:0000308|Microretrognathia;HP:0000463|Anteverted nares;HP:0010535|Sleep apnea;HP:0100490|Camptodactyly of finger;HP:0007328|Impaired pain sensation;HP:0000377|Abnormality of the pinna;HP:0001252|Muscular hypotonia;HP:0007565|Multiple cafe-au-lait spots;HP:0000414|Bulbous nose
phenobarbital embryopathy	HP:0001263|Global developmental delay
oculocutaneous albinism type 6	HP:0000639|Nystagmus;HP:0001098|Abnormality of the fundus;HP:0008059|Aplasia/Hypoplasia of the macula;HP:0030613|Abnormal foveal morphology on macular OCT;HP:0000613|Photophobia;HP:0008034|Abnormal iris pigmentation;HP:0007663|Reduced visual acuity
branchiogenic deafness syndrome	HP:0000486|Squint eyes;HP:0001760|Foot deformities;HP:0004467|Pit in front of the ear;HP:0004322|Short stature;HP:0007427|Reticulated skin pigmentation;HP:0009882|Hypoplastic terminal phalanges;HP:0009839|Osteolytic defects of the distal phalanges of the hand;HP:0004322|Stature below 3rd percentile;HP:0004452|Abnormality of the middle ear ossicles;HP:0000486|Strabismus;HP:0009882|Short distal phalanx of finger;HP:0000410|Hearing loss, mixed;HP:0009796|Branchial cysts;HP:0004467|Preauricular pit;HP:0000407|Sensorineural hearing impairment;HP:0000384|Preauricular skin tag;HP:0000396|Overfolded helix;HP:0000413|Atresia of the external auditory canal;HP:0000410|Mixed hearing impairment;HP:0000175|Cleft palate;HP:0000211|Trismus;HP:0009795|Branchial cleft fistula;HP:0000483|Astigmatism;HP:0008774|Aplasia/Hypoplasia of the inner ear;HP:0000405|Conductive hearing impairment;HP:0000413|External auditory meatal atresia;HP:0009796|Branchial cyst;HP:0001328|Specific learning disability;HP:0000377|Abnormality of the pinna;HP:0011272|Underdeveloped tragus;HP:0009795|Branchial fistula;HP:0000176|Submucous cleft hard palate
blepharo-cheilo-odontic syndrome	HP:0000670|Carious teeth;HP:0002744|Bilateral cleft lip and palate;HP:0006101|Finger syndactyly;HP:0000504|Abnormality of vision;HP:0000492|Abnormality of the eyelid;HP:0002023|Anal atresia;HP:0007651|Ectropion of lower eyelids;HP:0011362|Abnormal hair quantity;HP:0012905|Euryblepharon;HP:0000698|Conical tooth;HP:0200040|Epidermoid cyst;HP:0000316|Hypertelorism;HP:0009743|Distichiasis;HP:0000405|Conductive hearing impairment;HP:0000478|Abnormality of the eye
congenital megacalycosis	HP:0006000|Ureteral obstruction;HP:0000787|Nephrolithiasis;HP:0000105|Enlarged kidney;HP:0000126|Hydronephrosis;HP:0000107|Renal cyst;HP:0000790|Hematuria;HP:0012211|Abnormal renal physiology;HP:0100581|Megacalicosis;HP:0000010|Recurrent urinary tract infections;HP:0001970|Tubulointerstitial nephritis
congenital lethal erythroderma	HP:0001025|Urticaria;HP:0007381|Congenital exfoliative erythroderma;HP:0002093|Respiratory insufficiency;HP:0000958|Dry skin;HP:0001508|Weight faltering;HP:0001522|Death in infancy;HP:0001508|Failure to thrive;HP:0008064|Ichthyosis;HP:0003073|Hypoalbuminaemia;HP:0003073|Hypoalbuminemia;HP:0002024|Malabsorption
2q24 microdeletion syndrome	HP:0001263|Global developmental delay;HP:0000470|Short neck;HP:0000568|Microphthalmia;HP:0000274|Small face;HP:0000518|Cataract;HP:0010078|Bullet-shaped distal phalanx of the hallux;HP:0001770|Toe syndactyly;HP:0002871|Central apnea;HP:0000316|Hypertelorism;HP:0000190|Abnormality of oral frenula;HP:0011344|Severe global developmental delay;HP:0001188|Hand clenching;HP:0001510|Growth delay;HP:0000494|Downslanted palpebral fissures;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0000175|Cleft palate;HP:0000589|Coloboma;HP:0000729|Autistic behavior;HP:0000525|Abnormality of the iris;HP:0001518|Small for gestational age;HP:0001508|Failure to thrive;HP:0001249|Intellectual disability;HP:0000322|Short philtrum;HP:0001319|Neonatal hypotonia;HP:0100490|Camptodactyly of finger;HP:0000368|Low-set, posteriorly rotated ears;HP:0100807|Long fingers
heart-hand syndrome type 3	HP:0001831|Short toe;HP:0005819|Short middle phalanges;HP:0011710|Bundle branch block;HP:0011704|Sick sinus syndrome;HP:0001163|Abnormality of the metacarpal bones;HP:0005819|Short middle phalanx of finger;HP:0001626|Cardiovascular abnormality;HP:0009464|Ulnar deviation of index fingers;HP:0001156|Brachydactyly;HP:0001156|Brachydactyly syndrome
8q22.1 microdeletion syndrome	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0000470|Short neck;HP:0002553|Highly arched eyebrow;HP:0000535|Sparse eyebrow;HP:0000581|Blepharophimosis;HP:0010720|Abnormal hair pattern;HP:0010781|Skin dimples;HP:0001376|Limitation of joint mobility;HP:0000135|Hypogonadism;HP:0006101|Finger syndactyly;HP:0000506|Telecanthus;HP:0100024|Conspicuously happy disposition;HP:0000369|Low-set ears;HP:0000343|Long philtrum;HP:0001852|Sandal gap;HP:0008577|Underfolded helix;HP:0000164|Abnormality of the teeth;HP:0000298|Mask-like facies;HP:0000457|Depressed nasal ridge;HP:0009738|Abnormality of the antihelix;HP:0000327|Hypoplasia of the maxilla;HP:0000252|Microcephaly;HP:0000431|Wide nasal bridge;HP:0000653|Sparse eyelashes;HP:0006610|Wide intermamillary distance;HP:0001363|Craniosynostosis;HP:0005288|Abnormality of the nares;HP:0100679|Lack of skin elasticity;HP:0100490|Camptodactyly of finger;HP:0000377|Abnormality of the pinna;HP:0000176|Submucous cleft hard palate
glycogen storage disease due to acid maltase deficiency	HP:0002094|Dyspnea;HP:0100543|Cognitive impairment;HP:0002015|Dysphagia;HP:0003198|Myopathy;HP:0002205|Recurrent respiratory infections;HP:0009023|Abdominal wall muscle weakness;HP:0003236|Elevated serum creatine phosphokinase;HP:0002097|Emphysema;HP:0000158|Macroglossia;HP:0001640|Cardiomegaly;HP:0001639|Hypertrophic cardiomyopathy;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0005978|Type II diabetes mellitus;HP:0001288|Gait disturbance;HP:0003457|EMG abnormality;HP:0011675|Arrhythmia;HP:0002747|Respiratory insufficiency due to muscle weakness;HP:0002240|Hepatomegaly;HP:0001939|Abnormality of metabolism/homeostasis;HP:0001626|Abnormality of the cardiovascular system;HP:0002357|Dysphasia;HP:0001678|Atrioventricular block;HP:0001252|Muscular hypotonia;HP:0003324|Generalized muscle weakness
mmep syndrome	HP:0000202|Oral cleft;HP:0000028|Cryptorchidism;HP:0000568|Microphthalmia;HP:0000505|Visual impairment;HP:0000303|Mandibular prognathia;HP:0000161|Median cleft lip;HP:0001199|Triphalangeal thumb;HP:0001629|Ventricular septal defect;HP:0000252|Microcephaly;HP:0001839|Split foot;HP:0001249|Intellectual disability
brachydactyly type a4	HP:0009577|Short middle phalanx of the 2nd finger;HP:0004220|Hypoplastic middle phalanx of the 5th finger;HP:0100387|Absent middle toe bones;HP:0004322|Short stature;HP:0006239|Shortening of all middle phalanges of the toes;HP:0001762|Talipes equinovarus;HP:0009773|Symphalangism affecting the phalanges of the hand;HP:0009577|Hypoplastic middle index finger phalanx;HP:0005850|Congenital talipes calcaneovalgus;HP:0004220|Short middle phalanx of the 5th finger
oculo-palato-cerebral syndrome	HP:0001257|Spasticity;HP:0001249|Mental retardation;HP:0004322|Stature below 3rd percentile;HP:0000252|Small head circumference;HP:0000568|Abnormally small globe of eye;HP:0007968|Persistent fetal vasculature;HP:0000175|Palatoschisis;HP:0000555|Leukocoria
dilated vestibular aqueduct	HP:0011387|Dilated vestibular aqueduct;HP:0000376|Incomplete partition of the cochlea type II;HP:0000407|sensorineural hearing loss
amelia, autosomal recessive	HP:0009827|Amelia
familial scaphocephaly syndrome, mcgillivray type	HP:0001256|Intellectual disability, mild;HP:0011800|Midface retrusion;HP:0000582|Upslanted palpebral fissure;HP:0000256|Macrocephaly;HP:0000303|Mandibular prognathia;HP:0000348|High forehead;HP:0010807|Open bite;HP:0002119|Ventriculomegaly;HP:0000316|Hypertelorism;HP:0001770|Toe syndactyly;HP:0000218|High palate;HP:0000243|Trigonocephaly;HP:0000268|Dolichocephaly;HP:0010059|Broad hallux phalanx;HP:0001249|Mental retardation
cubitus valgus with mental retardation and unusual facies	HP:0000322|Short philtrum;HP:0001250|Seizures;HP:0001999|Facial dysmorphism;HP:0000252|Small head circumference;HP:0002342|Intellectual disability, moderate;HP:0001956|Centripetal obesity;HP:0002967|Cubitus valgus;HP:0000995|Beauty mark;HP:0000490|Sunken eyes;HP:0000494|Downward slanting palpebral fissures
alport syndrome, autosomal recessive	HP:0003774|End-stage renal failure;HP:0000123|Nephritis;HP:0011501|Anterior lenticonus;HP:0000518|Cataract;HP:0000545|Near sightedness;HP:0200020|Corneal erosion;HP:0000365|Hearing impairment;HP:0000822|Hypertension;HP:0030034|Diffuse lamellation of the glomerular basement membrane;HP:0000100|Nephrosis;HP:0000790|Hematuria;HP:0004722|Thickening of the glomerular basement membrane;HP:0000093|Proteinuria
mesomelia-synostoses syndrome	HP:0005891|Progressive forearm curvature;HP:0009487|Ulnar deviation of the hands;HP:0000308|Retromicrognathia;HP:0001438|Abnormality of the abdomen;HP:0001611|Hypernasal speech;HP:0001196|Short umbilical cord;HP:0003468|Vertebral anomalies;HP:0000126|Hydronephrosis;HP:0008845|Mesomelic dwarfism;HP:0001773|Small feet;HP:0010292|Congenital absence of uvula;HP:0009701|Synostosis involving the metacarpal bones;HP:0000316|Increased distance between eye sockets;HP:0000494|Downward slanting palpebral fissures;HP:0000444|Polly beak nasal deformity;HP:0003027|Mesomelia;HP:0000508|Drooping upper eyelid;HP:0005694|Partial fusion of proximal row of carpal bones;HP:0002983|Micromelia
retinal dysplasia, primary	HP:0007973|Retinal dysplasia;HP:0001493|Congenital retinal fold
hypomyelination, global cerebral	HP:0001257|Spasticity;HP:0001250|Seizures;HP:0001263|Developmental retardation;HP:0001347|Hyperreflexia;HP:0006808|Cerebral hypomyelination;HP:0000817|Poor eye contact;HP:0006829|Severe muscular hypotonia
myoglobinuria, acute recurrent, autosomal recessive	HP:0002153|Elevated serum potassium levels;HP:0003236|Elevated creatine kinase;HP:0001265|Decreased tendon reflexes;HP:0001284|Areflexia;HP:0001324|Muscular weakness;HP:0001945|Fever;HP:0002913|Myoglobinuria;HP:0008942|Rhabdomyolysis, acute;HP:0001919|Acute renal failure;HP:0003326|Muscle pain
glycogen storage disease of heart, lethal congenital	HP:0001635|Congestive heart failure;HP:0000961|Cyanosis;HP:0001250|Seizures;HP:0000158|Abnormally large tongue;HP:0200128|Biventricular hypertrophy;HP:0001640|Increased heart size;HP:0001541|Ascites;HP:0100598|Pulmonary oedema;HP:0002615|Low blood pressure;HP:0005165|Shortened PR interval on EKG;HP:0001998|Low blood sugar in newborn
thymoma, familial	HP:0100522|Thymoma;HP:0002093|progressive respiratory failure
cardiac arrhythmia, ankyrin-b-related	HP:0001688|Sinus bradycardia;HP:0005110|Atrial fibrillation;HP:0001657|Prolonged QT interval;HP:0001279|Syncope;HP:0001645|Sudden cardiac death
glycogen storage disease 0, liver	HP:0001250|Seizures;HP:0003162|Low blood sugar when fasting;HP:0001946|High levels of ketone bodies;HP:0002151|Increased serum lactate;HP:0011998|Postprandial hyperglycemia;HP:0001998|Low blood sugar in newborn
dementia, familial danish	HP:0001257|Spasticity;HP:0001251|Ataxia;HP:0002080|Intention tremor;HP:0001115|Posterior polar cataract;HP:0000365|Hearing impairment;HP:0000709|Psychosis;HP:0002185|Paired helical filaments;HP:0000726|Dementia;HP:0011970|Cerebral amyloid angiopathy
charcot-marie-tooth disease, type 2j	HP:0011096|Demyelination;HP:0003376|'steppage' gait;HP:0009027|Foot drop;HP:0003693|Muscle atrophy, distal;HP:0002936|Decreased distal sensation;HP:0001265|Decreased tendon reflexes;HP:0000408|Bilateral progressive sensorineural hearing loss;HP:0001284|Areflexia;HP:0000478|Abnormal eye;HP:0000407|sensorineural hearing loss;HP:0002086|Respiratory abnormality;HP:0002460|Weakness of distal muscles;HP:0002015|Swallowing difficulty;HP:0003378|Axonal degeneration/regeneration;HP:0001761|Pes cavus
diffuse palmoplantar keratoderma, bothnian type	HP:0007435|Diffuse palmoplantar keratoderma
properdin deficiency, x-linked	HP:0001939|Laboratory abnormality;HP:0005423|Dysfunctional alternative complement pathway
fibrosis of extraocular muscles, congenital, 2	HP:0000505|Poor vision;HP:0000646|Wandering eyes;HP:0007936|Restrictive external ophthalmoplegia;HP:0000577|Exotropia;HP:0001491|Congenital fibrosis of the extraocular muscles;HP:0001488|Bilateral ptosis
eosinophilia, familial	HP:0001880|Eosinophilia
charcot-marie-tooth disease, dominant intermediate d	HP:0003484|Upper limb muscle weakness;HP:0003693|Muscle atrophy, distal;HP:0003481|Segmental peripheral demyelination/remyelination;HP:0002936|Decreased distal sensation;HP:0001265|Decreased tendon reflexes;HP:0001284|Areflexia;HP:0002460|Weakness of distal muscles;HP:0003378|Axonal degeneration/regeneration
erythrocytosis, familial, 3	HP:0001900|Increased hemoglobin;HP:0001898|Increased red blood cell mass;HP:0001899|Increased hematocrit
spinocerebellar ataxia, autosomal recessive 4	HP:0001251|Ataxia;HP:0002380|Muscle twitch;HP:0001347|Hyperreflexia;HP:0003477|Peripheral axonal neuropathy;HP:0001761|Pes cavus;HP:0003487|Extensor plantar reflexes;HP:0002066|Gait ataxia;HP:0001260|Dysarthric speech;HP:0001336|Myoclonic jerks;HP:0007338|Hypermetric saccades
deafness, autosomal recessive 51	HP:0000407|sensorineural hearing loss
night blindness, congenital stationary, autosomal dominant 1	HP:0001123|Partial loss of field of vision;HP:0000654|Decreased electroretinogram response;HP:0007737|Fundus with peripheral bony spicules;HP:0007642|Congenital stationary night blindness
deafness, autosomal recessive 9	HP:0008529|Absent middle ear reflexes;HP:0000407|sensorineural hearing loss;HP:0004463|No auditory brainstem response
cardiomyopathy, dilated, 1x	HP:0003701|Proximal limb muscle weakness;HP:0001644|Congestive cardiomyopathy
deafness, autosomal recessive 44	HP:0000399|Prelingual sensorineural hearing impairment
digital clubbing, isolated congenital	HP:0001217|Digital clubbing
migraine, familial hemiplegic, 3	HP:0001250|Seizures;HP:0000618|Blindness;HP:0002077|Migraine with aura;HP:0002301|Hemiplegia;HP:0001269|Hemiparesis;HP:0000613|Extreme light sensitivity
hypocalciuric hypercalcemia, familial, type iii	HP:0004398|Peptic ulcer;HP:0003072|Hypercalcemia;HP:0000787|Renal calculi;HP:0001012|Multiple lipomas;HP:0003127|Low urine calcium levels;HP:0002918|High blood magnesium levels;HP:0001733|Pancreatic inflammation;HP:0000934|Chondrocalcinosis;HP:0003529|Parathormone-independent increased renal tubular calcium reabsorption;HP:0008200|Primary hyperparathyroidism
amelogenesis imperfecta, type ic	HP:0000705|Amelogenesis imperfecta;HP:0006286|Yellow-brown discoloration of the teeth;HP:0009102|Gap between upper and lower front teeth when biting;HP:0006285|Poorly mineralized tooth enamel
retinal arteries, tortuosity of	HP:0000572|Visual loss;HP:0001136|Tortuous retinal arterioles;HP:0000573|Retinal hemorrhage
macular degeneration, age-related, 2	HP:0007868|ARMD
hereditary motor and sensory neuropathy, type iic	HP:0003724|Shoulder-girdle muscle atrophy;HP:0002936|Decreased distal sensation;HP:0000020|Bladder incontinence;HP:0002870|Obstructive sleep apnea;HP:0004322|Stature below 3rd percentile;HP:0001765|Hammertoes;HP:0011349|Sixth nerve palsy;HP:0002460|Weakness of distal muscles;HP:0000012|Urinary urgency;HP:0009027|Foot drop;HP:0007230|Decreased distal sensory nerve action potential;HP:0012246|Oculomotor nerve palsy;HP:0010307|Stridor;HP:0000763|Sensory neuropathy;HP:0001265|Decreased tendon reflexes;HP:0002650|Scoliosis;HP:0001284|Areflexia;HP:0009130|Amyotrophy involving the musculature of the hand;HP:0001604|Hoarse voice due to vocal cord paresis;HP:0001761|Pes cavus;HP:0200021|Rounded shoulders;HP:0002878|Respiratory failure;HP:0009113|Diaphragmatic weakness;HP:0000407|sensorineural hearing loss;HP:0004878|Intercostal muscle weakness
spastic paraplegia, optic atrophy, and neuropathy	HP:0000975|Increased sweating;HP:0007054|Hyperreflexia proximally;HP:0000543|Pale optic disc;HP:0003390|Sensory axonal neuropathy;HP:0001371|Flexion contractures of joints;HP:0003693|Muscle atrophy, distal;HP:0001265|Decreased tendon reflexes;HP:0002808|Gibbus deformity;HP:0002650|Scoliosis;HP:0001258|Spastic paraplegia, lower limb;HP:0007002|Motor axonal neuropathy;HP:0002267|Exaggerated startle response;HP:0001260|Dysarthric speech;HP:0001270|Motor retardation;HP:0001761|Pes cavus;HP:0000648|Optic-nerve degeneration
spinal muscular atrophy, distal, autosomal recessive, 4	HP:0002515|Waddling gait;HP:0003701|Proximal limb muscle weakness;HP:0007269|Spinal muscle wasting;HP:0003445|EMG: neurogenic findings;HP:0009473|Joint contracture of the hand;HP:0003693|Muscle atrophy, distal;HP:0003307|Hyperlordosis;HP:0002650|Scoliosis;HP:0001762|Talipes equinovarus;HP:0001284|Areflexia;HP:0002355|Difficulty walking;HP:0002460|Weakness of distal muscles;HP:0003697|Scapuloperoneal amyotrophy;HP:0003551|Difficulty walking up stairs;HP:0002366|Lower motor neuron disease;HP:0002747|Respiratory distress due to muscle weakness
failure of tooth eruption, primary	HP:0006335|Delayed loss of primary teeth;HP:0000668|Failure of development of between one and six teeth;HP:0006352|Failure of eruption of permanent teeth
spinal muscular atrophy, distal, x-linked 3	HP:0007269|Spinal muscle wasting;HP:0003445|EMG: neurogenic findings;HP:0003693|Muscle atrophy, distal;HP:0001265|Decreased tendon reflexes;HP:0000759|Abnormal peripheral nervous system morphology;HP:0002936|Decreased distal sensation;HP:0002460|Weakness of distal muscles;HP:0002317|Unsteady walk;HP:0001761|Pes cavus
van buchem disease, type 2	HP:0002684|Thickened calvarium;HP:0000303|Increased size of lower jaw;HP:0000935|Thickened cortices of long bones
scapuloperoneal syndrome, neurogenic, kaeser type	HP:0003704|Neurogenic scapuloperoneal syndrome;HP:0009027|Foot drop;HP:0009049|Peroneal atrophy;HP:0001762|Talipes equinovarus;HP:0003724|Shoulder-girdle muscle atrophy
mungan syndrome	HP:0100771|Hypoperistalsis;HP:0004389|Intestinal pseudo-obstruction;HP:0011682|Membranous ventricular septal defect;HP:0100580|Barrett's esophagus;HP:0005180|Tricuspid insufficiency;HP:0000089|Small kidneys;HP:0001488|Bilateral ptosis;HP:0000076|Vesicoureteric reflux;HP:0002270|Abnormality of the autonomic nervous system;HP:0001642|Pulmonic stenosis
ceroid lipofuscinosis, neuronal, 6	HP:0001250|Seizures;HP:0003208|Fingerprint profiles ultrastructurally;HP:0000529|Slowly progressive visual loss;HP:0002074|Increased neuronal autofluorescent lipopigment;HP:0002333|Progressive degeneration of movement;HP:0001311|Neurophysiologic abnormalities;HP:0000546|Retinal degeneration;HP:0003205|'curvilinear profiles' ultrastructurally
cardiac valvular dysplasia, x-linked	HP:0001635|Congestive heart failure;HP:0001659|Aortic insufficiency;HP:0001634|Mitral valve prolapse;HP:0011580|Short chordae tendineae of the mitral valve;HP:0001939|Laboratory abnormality;HP:0001653|Mitral valve insufficiency;HP:0005180|Tricuspid insufficiency;HP:0006692|Short chordae tendineae of the tricuspid valve
microphthalmia, isolated 3	HP:0000568|Abnormally small globe of eye;HP:0000647|Sclerocornea;HP:0009755|Eyelid synechiae;HP:0000528|Absence of eyeballs
myopathy, distal, with anterior tibial onset	HP:0003236|Elevated creatine kinase;HP:0003693|Muscle atrophy, distal;HP:0002460|Weakness of distal muscles
telangiectasia, hereditary benign	HP:0007489|Telangiectases, random body distribution
epilepsy, familial temporal lobe, 2	HP:0002349|Focal seizures without impairment of consciousness or awareness;HP:0002069|Generalized tonic clonic seizures;HP:0002384|Dyscognitive seizures;HP:0002373|Febrile convulsions
muscular dystrophy, limb-girdle, type 2g	HP:0009025|Increased connective tissue;HP:0009046|Difficulty running;HP:0008948|Proximal upper limb amyotrophy;HP:0003236|Elevated creatine kinase;HP:0003805|Rimmed vacuoles;HP:0003557|Increased fiber size variation;HP:0008981|Increased size of calf muscles;HP:0002522|Absent lower limb tendon reflexes;HP:0008944|Lower leg amyotrophy;HP:0002355|Difficulty walking;HP:0003551|Difficulty walking up stairs;HP:0009027|Foot drop;HP:0009053|Muscle weakness, lower limb, distal;HP:0008997|Proximal muscle weakness in upper limbs;HP:0003560|Muscular dystrophy
cholestasis, progressive familial intrahepatic 2	HP:0002240|Enlarged liver;HP:0004322|Stature below 3rd percentile;HP:0001744|Splenomegaly;HP:0001046|Intermittent jaundice;HP:0001402|Hepatocellular carcinoma;HP:0001406|Intrahepatic cholestasis;HP:0002014|Diarrhea;HP:0003155|Hyperphosphatasia;HP:0002908|Conjugated hyperbilirubinemia;HP:0002630|Fat malabsorption;HP:0001394|Hepatic cirrhosis;HP:0001508|Weight faltering;HP:0000989|pruritis
deafness, autosomal recessive 23	HP:0000407|sensorineural hearing loss
deafness, autosomal recessive 48	HP:0001751|Vestibular dysfunction;HP:0011476|Profound sensorineural hearing impairment
pigmented nodular adrenocortical disease, primary, 2	HP:0000938|Decreased bone mineral density;HP:0000963|Thin skin;HP:0000311|Round facial shape;HP:0002920|Decreased circulating ACTH level;HP:0001580|Pigmented micronodular adrenocortical disease;HP:0001956|Centripetal obesity;HP:0002808|Gibbus deformity;HP:0001268|Mental deterioration;HP:0001579|Primary hypercorticolism;HP:0003466|Paradoxical increased cortisol secretion on dexamethasone suppression test;HP:0000822|Hypertension;HP:0000939|Osteoporosis;HP:0000716|Depression;HP:0000709|Psychosis;HP:0001065|Purplish striae;HP:0000739|Anxiety;HP:0000978|Bruisability;HP:0001575|Mood alterations;HP:0000713|Agitation
spastic paraplegia 13, autosomal dominant	HP:0001347|Hyperreflexia;HP:0002064|Spastic gait;HP:0002839|Urinary bladder sphincter dysfunction;HP:0002166|Decreased lower limb vibratory sense;HP:0001258|Spastic paraplegia, lower limb;HP:0007340|Lower limb weakness;HP:0003487|Extensor plantar reflexes;HP:0000012|Urinary urgency;HP:0000020|Bladder incontinence;HP:0002061|Lower limb spasticity
spastic paraplegia 6, autosomal dominant	HP:0001250|Seizures;HP:0001258|Spastic paraplegia, lower limb;HP:0002064|Spastic gait;HP:0002839|Urinary bladder sphincter dysfunction;HP:0002166|Decreased lower limb vibratory sense;HP:0002169|Clonus;HP:0001337|Tremor;HP:0007340|Lower limb weakness;HP:0003487|Extensor plantar reflexes;HP:0001761|Pes cavus;HP:0000012|Urinary urgency;HP:0000020|Bladder incontinence;HP:0002314|Degeneration of the lateral corticospinal tracts;HP:0002061|Lower limb spasticity
microphthalmia, isolated 4	HP:0000568|Abnormally small globe of eye;HP:0000589|Ocular coloboma;HP:0100259|Postaxial hexadactyly;HP:0010469|Aplasia of the testes
neuropathy, distal hereditary motor, type iib	HP:0003445|EMG: neurogenic findings;HP:0002355|Difficulty walking;HP:0009830|Peripheral neuritis;HP:0002601|Paresis of extensor muscles of the big toe;HP:0002522|Absent lower limb tendon reflexes;HP:0009053|Muscle weakness, lower limb, distal;HP:0002600|Hyporeflexia of lower limbs
bleeding disorder, platelet-type, 8	HP:0004866|Impaired ADP-induced platelet aggregation;HP:0001934|Excessive bleeding after minor trauma;HP:0000978|Bruisability;HP:0004846|Protracted bleeding after surgery;HP:0000421|Bloody nose
myopathy, myofibrillar, 5	HP:0002515|Waddling gait;HP:0003701|Proximal limb muscle weakness;HP:0003715|Myofibrillar changes;HP:0003236|Elevated creatine kinase;HP:0000759|Abnormal peripheral nervous system morphology;HP:0100303|Muscle fiber cytoplasmatic inclusion bodies;HP:0003551|Difficulty walking up stairs;HP:0002093|progressive respiratory failure;HP:0003555|Fiber splitting
spastic paraplegia 12, autosomal dominant	HP:0001347|Hyperreflexia;HP:0002064|Spastic gait;HP:0011449|Patellar clonus;HP:0002839|Urinary bladder sphincter dysfunction;HP:0002166|Decreased lower limb vibratory sense;HP:0001258|Spastic paraplegia, lower limb;HP:0007340|Lower limb weakness;HP:0003487|Extensor plantar reflexes;HP:0000012|Urinary urgency;HP:0000020|Bladder incontinence;HP:0001761|Pes cavus;HP:0011448|Ankle clonus
macular degeneration, age-related, 4	HP:0007868|ARMD
usher syndrome, type 2a	HP:0000510|Retinitis pigmentosa;HP:0008527|Hearing loss, congenital sensorineural
pigmented nodular adrenocortical disease, primary, 1	HP:0000938|Decreased bone mineral density;HP:0000963|Thin skin;HP:0000311|Round facial shape;HP:0002920|Decreased circulating ACTH level;HP:0001580|Pigmented micronodular adrenocortical disease;HP:0001956|Centripetal obesity;HP:0002808|Gibbus deformity;HP:0001268|Mental deterioration;HP:0001579|Primary hypercorticolism;HP:0003466|Paradoxical increased cortisol secretion on dexamethasone suppression test;HP:0000822|Hypertension;HP:0000939|Osteoporosis;HP:0000716|Depression;HP:0000709|Psychosis;HP:0001065|Purplish striae;HP:0000739|Anxiety;HP:0000978|Bruisability;HP:0001575|Mood alterations;HP:0000713|Agitation
spastic paraplegia 5a, autosomal recessive	HP:0006858|Impaired distal proprioception;HP:0002406|Limb dysmetria;HP:0001347|Hyperreflexia;HP:0002064|Spastic gait;HP:0002166|Decreased lower limb vibratory sense;HP:0001258|Spastic paraplegia, lower limb;HP:0001761|Pes cavus;HP:0007340|Lower limb weakness;HP:0003487|Extensor plantar reflexes;HP:0000020|Bladder incontinence;HP:0001260|Dysarthric speech;HP:0030890|White matter hyperintensity;HP:0010550|Paraplegia;HP:0002061|Lower limb spasticity;HP:0000648|Optic-nerve degeneration
hypoparathyroidism, x-linked	HP:0001281|Tetany;HP:0001250|Seizures;HP:0000464|Anomaly of the neck;HP:0008198|Congenital hypoparathyroidism
cataract 1, multiple types	HP:0100018|Yellowish cloudy center of lens;HP:0000519|Cataracts, lenticular, bilateral;HP:0010693|Pulverulent cataract
ehlers-danlos syndrome, arthrochalasis type	HP:0000963|Thin skin;HP:0000767|Funnel chest;HP:0001659|Aortic insufficiency;HP:0001634|Mitral valve prolapse;HP:0001653|Mitral valve insufficiency;HP:0001848|Calcaneovalgus Foot;HP:0000977|Soft skin;HP:0001388|Joint laxity;HP:0001763|Pes planus;HP:0000974|Stretchable skin;HP:0000023|Inguinal hernia;HP:0000978|Bruisability;HP:0002816|Back knee;HP:0001075|Thin, atrophic scars
deafness, x-linked 2	HP:0000405|Conductive hearing loss;HP:0000381|Stapes ankylosis;HP:0000408|Bilateral progressive sensorineural hearing loss;HP:0004458|Dilatated internal auditory canal
deafness, x-linked 4	HP:0000407|sensorineural hearing loss;HP:0005101|High-frequency deafness
nystagmus 1, congenital, x-linked	HP:0000666|Horizontal nystagmus;HP:0007663|Central visual loss;HP:0012043|Pendular nystagmus;HP:0006934|Congenital nystagmus
panhypopituitarism, x-linked	HP:0000839|Pituitary dwarfism;HP:0000871|Panhypopituitarism
deafness, autosomal recessive 24	HP:0011476|Profound sensorineural hearing impairment
deafness, x-linked 1	HP:0000407|sensorineural hearing loss
hyperimmunoglobulinemia d with periodic fever	HP:0001263|Global developmental delay;HP:0001025|Urticaria;HP:0002239|Gastrointestinal hemorrhage;HP:0003261|Increased IgA level;HP:0002027|Abdominal pain;HP:0001376|Limitation of joint mobility;HP:0001954|Episodic fever;HP:0002586|Peritonitis;HP:0005214|Intestinal obstruction;HP:0010783|Erythema;HP:0002829|Arthralgia;HP:0002716|Lymphadenopathy;HP:0003326|Myalgia;HP:0003565|Elevated erythrocyte sedimentation rate;HP:0001251|Ataxia;HP:0002014|Diarrhea;HP:0000979|Purpura;HP:0001510|Growth delay;HP:0001250|Seizures;HP:0002633|Vasculitis;HP:0002240|Hepatomegaly;HP:0002076|Migraine;HP:0011107|Recurrent aphthous stomatitis;HP:0001369|Arthritis;HP:0001063|Acrocyanosis;HP:0200034|Papule
transcobalamin deficiency	HP:0001876|Pancytopenia;HP:0001919|Acute kidney injury;HP:0003220|Abnormality of chromosome stability;HP:0004315|IgG deficiency;HP:0002720|IgA deficiency;HP:0002850|IgM deficiency;HP:0012120|Methylmalonic aciduria;HP:0001873|Thrombocytopenia;HP:0004313|Decreased antibody level in blood;HP:0001888|Lymphopenia;HP:0001875|Neutropenia;HP:0001980|Megaloblastic bone marrow
alg9-cdg	HP:0001399|Hepatic failure;HP:0001250|Seizures;HP:0100543|Cognitive impairment;HP:0001252|Muscular hypotonia
hereditary sensory and autonomic neuropathy type 4	HP:0001263|Global developmental delay;HP:0000708|Behavioral abnormality;HP:0002754|Osteomyelitis;HP:0100716|Self-injurious behavior;HP:0011073|Abnormality of dental color;HP:0100679|Lack of skin elasticity;HP:0000737|Irritability;HP:0001072|Thickened skin;HP:0007328|Impaired pain sensation;HP:0200042|Skin ulcer;HP:0001249|Intellectual disability
recessive x-linked ichthyosis	HP:0000028|Cryptorchidism;HP:0000717|Autism;HP:0000962|Hyperkeratosis;HP:0000958|Dry skin;HP:0000966|Hypohidrosis;HP:0002167|Neurological speech impairment;HP:0007018|Attention deficit hyperactivity disorder;HP:0007759|Opacification of the corneal stroma;HP:0008064|Ichthyosis
mild canavan disease	HP:0007730|Iris hypopigmentation;HP:0002360|Sleep disturbance;HP:0011342|Mild global developmental delay;HP:0000750|Delayed speech and language development
alg3-cdg	HP:0001263|Global developmental delay;HP:0001250|Seizures;HP:0000504|Abnormality of vision;HP:0000252|Microcephaly;HP:0001252|Muscular hypotonia;HP:0000478|Abnormality of the eye
trichorhinophalangeal syndrome type 1 and 3	HP:0000535|Sparse eyebrow;HP:0004322|Short stature;HP:0000218|High palate;HP:0000347|Micrognathia;HP:0002007|Frontal bossing;HP:0003307|Hyperlordosis;HP:0005743|Avascular necrosis of the capital femoral epiphysis;HP:0000343|Long philtrum;HP:0000164|Abnormality of the teeth;HP:0010049|Short metacarpal;HP:0011341|Long upper lip;HP:0001808|Fragile nails;HP:0002650|Scoliosis;HP:0008070|Sparse hair;HP:0001820|Leukonychia;HP:0004209|Clinodactyly of the 5th finger;HP:0000653|Sparse eyelashes;HP:0010743|Short metatarsal;HP:0000411|Protruding ear;HP:0011910|Shortening of all phalanges of fingers;HP:0000325|Triangular face;HP:0000400|Macrotia;HP:0100490|Camptodactyly of finger;HP:0010579|Cone-shaped epiphysis;HP:0001252|Muscular hypotonia;HP:0000414|Bulbous nose;HP:0000768|Pectus carinatum;HP:0011069|Increased number of teeth;HP:0009882|Short distal phalanx of finger
recessive dystrophic epidermolysis bullosa-generalized other	HP:0002860|Squamous cell carcinoma;HP:0000160|Narrow mouth;HP:0000670|Carious teeth;HP:0008404|Nail dystrophy;HP:0004057|Mitten deformity;HP:0002015|Dysphagia;HP:0004378|Abnormality of the anus;HP:0002019|Constipation;HP:0001057|Aplasia cutis congenita;HP:0000572|Visual loss;HP:0200037|Skin vesicle;HP:0010296|Ankyloglossia;HP:0001075|Atrophic scars;HP:0200097|Oral mucosal blisters;HP:0200020|Corneal erosion;HP:0001056|Milia;HP:0001903|Anemia;HP:0011968|Feeding difficulties;HP:0001508|Failure to thrive;HP:0000823|Delayed puberty;HP:0002043|Esophageal stricture;HP:0001595|Abnormality of the hair;HP:0001596|Alopecia;HP:0001030|Fragile skin
b4galt1-cdg	HP:0000256|Macrocephaly;HP:0000238|Hydrocephalus;HP:0003198|Myopathy;HP:0001305|Dandy-Walker malformation;HP:0001252|Muscular hypotonia
6q16 deletion syndrome	HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0000692|Misalignment of teeth;HP:0004322|Short stature;HP:0000545|Myopia;HP:0000248|Brachycephaly;HP:0000218|High palate;HP:0000460|Narrow nose;HP:0000750|Delayed speech and language development;HP:0002591|Polyphagia;HP:0000369|Low-set ears;HP:0002564|Malformation of the heart and great vessels;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0004279|Short palm;HP:0001773|Short foot;HP:0002353|EEG abnormality;HP:0000286|Epicanthus;HP:0000729|Autistic behavior;HP:0000256|Macrocephaly;HP:0000293|Full cheeks;HP:0000252|Microcephaly;HP:0001182|Tapered finger;HP:0004209|Clinodactyly of the 5th finger;HP:0000311|Round face;HP:0000717|Autism;HP:0000426|Prominent nasal bridge;HP:0001513|Obesity;HP:0000308|Microretrognathia;HP:0000400|Macrotia;HP:0001252|Muscular hypotonia;HP:0000414|Bulbous nose
familial isolated dilated cardiomyopathy	HP:0003236|Elevated serum creatine phosphokinase;HP:0003457|EMG abnormality;HP:0001874|Abnormality of neutrophils;HP:0001644|Dilated cardiomyopathy;HP:0003198|Myopathy;HP:0100578|Lipoatrophy;HP:0000407|Sensorineural hearing impairment;HP:0000982|Palmoplantar keratoderma
dk1-cdg	HP:0002612|Congenital hepatic fibrosis;HP:0002910|Elevated hepatic transaminases;HP:0001744|Splenomegaly;HP:0003326|Myalgia;HP:0000958|Dry skin;HP:0001928|Abnormality of coagulation;HP:0100543|Cognitive impairment;HP:0006709|Aplasia/Hypoplasia of the nipples;HP:0002120|Cerebral cortical atrophy;HP:0100578|Lipoatrophy;HP:0002240|Hepatomegaly;HP:0009776|Adactyly;HP:0008064|Ichthyosis
woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome	HP:0001635|Congestive heart failure;HP:0002224|Woolly hair;HP:0001644|Dilated cardiomyopathy;HP:0005588|Patchy palmoplantar keratoderma
insulin-resistance syndrome type a	HP:0000962|Hyperkeratosis;HP:0005978|Type II diabetes mellitus;HP:0001482|Subcutaneous nodule;HP:0002230|Generalized hirsutism;HP:0000823|Delayed puberty;HP:0007440|Generalized hyperpigmentation;HP:0005616|Accelerated skeletal maturation
x-linked intellectual disability with marfanoid habitus	HP:0001166|Arachnodactyly;HP:0001519|Disproportionate tall stature;HP:0000248|Brachycephaly;HP:0000218|High palate;HP:0000678|Dental crowding;HP:0000767|Pectus excavatum;HP:0001631|Atrial septal defect;HP:0001156|Brachydactyly syndrome;HP:0000347|Micrognathia;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0000369|Low-set ears;HP:0002167|Neurological speech impairment;HP:0005692|Joint hyperflexibility;HP:0000164|Abnormality of the teeth;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0000256|Macrocephaly;HP:0000327|Hypoplasia of the maxilla;HP:0000275|Narrow face;HP:0001608|Abnormality of the voice;HP:0002650|Scoliosis;HP:0000709|Psychosis;HP:0007018|Attention deficit hyperactivity disorder;HP:0001249|Intellectual disability;HP:0000322|Short philtrum;HP:0000053|Macroorchidism;HP:0000411|Protruding ear;HP:0000426|Prominent nasal bridge;HP:0000348|High forehead;HP:0100753|Schizophrenia;HP:0000738|Hallucinations;HP:0100490|Camptodactyly of finger;HP:0001252|Muscular hypotonia;HP:0001611|Nasal speech
hypertrichosis-acromegaloid facial appearance syndrome	HP:0001155|Abnormality of the hand;HP:0000221|Furrowed tongue;HP:0000581|Blepharophimosis;HP:0005692|Joint hyperflexibility;HP:0010285|Oral synechia;HP:0000280|Coarse facial features;HP:0000212|Gingival overgrowth;HP:0002230|Generalized hirsutism;HP:0000414|Bulbous nose;HP:0000232|Everted lower lip vermilion;HP:0012471|Thick vermilion border;HP:0100540|Palpebral edema;HP:0001249|Intellectual disability
hamel cerebro-palato-cardiac syndrome	HP:0001263|Global developmental delay;HP:0000160|Narrow mouth;HP:0000175|Cleft palate;HP:0000347|Micrognathia;HP:0004322|Short stature;HP:0000252|Microcephaly;HP:0001166|Arachnodactyly;HP:0001522|Death in infancy;HP:0000272|Malar flattening;HP:0000378|Cupped ear;HP:0000414|Bulbous nose;HP:0000431|Wide nasal bridge;HP:0001631|Atrial septal defect;HP:0001249|Intellectual disability
junctional epidermolysis bullosa inversa	HP:0001056|Milia;HP:0008066|Abnormal blistering of the skin;HP:0001075|Atrophic scars;HP:0008404|Nail dystrophy
hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0000202|Oral cleft;HP:0001263|Global developmental delay;HP:0003270|Abdominal distention;HP:0000864|Abnormality of the hypothalamus-pituitary axis;HP:0000239|Large fontanelles;HP:0001537|Umbilical hernia;HP:0004322|Short stature;HP:0012378|Fatigue;HP:0002019|Constipation;HP:0100842|Septo-optic dysplasia;HP:0000280|Coarse facial features;HP:0001252|Muscular hypotonia;HP:0000952|Jaundice;HP:0000821|Hypothyroidism;HP:0011787|Central hypothyroidism;HP:0002360|Sleep disturbance;HP:0011968|Feeding difficulties;HP:0000271|Abnormality of the face;HP:0001249|Intellectual disability
familial infantile myoclonic epilepsy	HP:0001256|Intellectual disability, mild;HP:0001263|Global developmental delay;HP:0002463|Language impairment;HP:0001326|EEG with irregular generalized spike and wave complexes;HP:0001336|Myoclonus;HP:0001112|Leber optic atrophy;HP:0001268|Mental deterioration;HP:0000737|Irritability;HP:0002373|Febrile seizures;HP:0002376|Developmental regression;HP:0007018|Attention deficit hyperactivity disorder;HP:0000718|Aggressive behavior;HP:0002123|Generalized myoclonic seizures;HP:0002069|Generalized tonic-clonic seizures;HP:0002121|Absence seizures;HP:0007207|Photosensitive tonic-clonic seizures;HP:0001260|Dysarthria;HP:0010862|Delayed fine motor development
monosomy 9q22.3	HP:0001263|Global developmental delay;HP:0000160|Narrow mouth;HP:0011330|Metopic synostosis;HP:0000470|Short neck;HP:0000568|Microphthalmia;HP:0000518|Cataract;HP:0010618|Ovarian fibroma;HP:0003196|Short nose;HP:0002119|Ventriculomegaly;HP:0010603|Keratocystic odontogenic tumor;HP:0000243|Trigonocephaly;HP:0000767|Pectus excavatum;HP:0001520|Large for gestational age;HP:0002671|Basal cell carcinoma;HP:0000752|Hyperactivity;HP:0000098|Tall stature;HP:0001537|Umbilical hernia;HP:0000369|Low-set ears;HP:0002885|Medulloblastoma;HP:0000486|Strabismus;HP:0005692|Joint hyperflexibility;HP:0000343|Long philtrum;HP:0000684|Delayed eruption of teeth;HP:0010612|Plantar pits;HP:0002308|Arnold-Chiari malformation;HP:0000772|Abnormality of the ribs;HP:0010617|Cardiac fibroma;HP:0011968|Feeding difficulties;HP:0000494|Downslanted palpebral fissures;HP:0005462|Calcification of falx cerebri;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000925|Abnormality of the vertebral column;HP:0010610|Palmar pits;HP:0000256|Macrocephaly;HP:0002667|Nephroblastoma;HP:0002859|Rhabdomyosarcoma;HP:0002808|Kyphosis;HP:0005616|Accelerated skeletal maturation;HP:0001249|Intellectual disability;HP:0000202|Oral cleft;HP:0009894|Thickened ears;HP:0000488|Retinopathy;HP:0010442|Polydactyly;HP:0001252|Muscular hypotonia;HP:0000238|Hydrocephalus
autosomal agammaglobulinemia	HP:0002110|Bronchiectasis;HP:0012378|Fatigue;HP:0000246|Sinusitis;HP:0001287|Meningitis;HP:0000218|High palate;HP:0100806|Sepsis;HP:0200043|Verrucae;HP:0002205|Recurrent respiratory infections;HP:0004432|Agammaglobulinemia;HP:0002014|Diarrhea;HP:0000316|Hypertelorism;HP:0001944|Dehydration;HP:0002719|Recurrent infections;HP:0002024|Malabsorption;HP:0000286|Epicanthus;HP:0002754|Osteomyelitis;HP:0000389|Chronic otitis media;HP:0001945|Fever;HP:0001508|Failure to thrive;HP:0001875|Neutropenia;HP:0012735|Cough;HP:0000988|Skin rash;HP:0100658|Cellulitis;HP:0002721|Immunodeficiency;HP:0001369|Arthritis;HP:0000509|Conjunctivitis;HP:0012115|Hepatitis;HP:0008572|External ear malformation;HP:0001581|Recurrent skin infections
autoimmune polyendocrinopathy type 1	HP:0008221|Adrenal hyperplasia;HP:0000829|Hypoparathyroidism;HP:0000505|Visual impairment;HP:0000518|Cataract;HP:0001596|Alopecia;HP:0100659|Abnormality of the cerebral vasculature;HP:0001053|Hypopigmented skin patches;HP:0000613|Photophobia;HP:0002960|Autoimmunity;HP:0002514|Cerebral calcification;HP:0008207|Primary adrenal insufficiency;HP:0100530|Abnormality of calcium-phosphate metabolism;HP:0002728|Chronic mucocutaneous candidiasis;HP:0001231|Abnormality of the fingernails;HP:0001578|Hypercortisolism;HP:0007759|Opacification of the corneal stroma;HP:0004319|Hypoaldosteronism
bathing suit ichthyosis	HP:0008064|Ichthyosis
osteosclerosis-developmental delay-craniosynostosis syndrome	HP:0001363|Craniosynostosis;HP:0011001|Increased bone mineral density;HP:0000256|Macrocephaly;HP:0000348|High forehead;HP:0000505|Visual impairment;HP:0012802|Broad jaw;HP:0011342|Mild global developmental delay;HP:0000365|Hearing impairment;HP:0000316|Hypertelorism;HP:0000248|Brachycephaly;HP:0002516|Increased intracranial pressure;HP:0002315|Headache;HP:0010628|Facial palsy;HP:0000648|Optic atrophy;HP:0000337|Broad forehead;HP:0002684|Thickened calvaria
hyperprolinemia type 1	HP:0001250|Seizures;HP:0003137|Prolinuria;HP:0100753|Schizophrenia;HP:0008358|Hyperprolinemia;HP:0000112|Nephropathy;HP:0000093|Proteinuria
kleefstra syndrome due to 9q34 microdeletion	HP:0001263|Global developmental delay;HP:0000028|Cryptorchidism;HP:0011800|Midface retrusion;HP:0001274|Agenesis of corpus callosum;HP:0001650|Aortic valve stenosis;HP:0002133|Status epilepticus;HP:0002553|Highly arched eyebrow;HP:0003196|Short nose;HP:0001331|Absent septum pellucidum;HP:0002119|Ventriculomegaly;HP:0000365|Hearing impairment;HP:0000248|Brachycephaly;HP:0001659|Aortic regurgitation;HP:0000232|Everted lower lip vermilion;HP:0008736|Hypoplasia of penis;HP:0000083|Renal insufficiency;HP:0001680|Coarctation of aorta;HP:0012157|Subcortical cerebral atrophy;HP:0000316|Hypertelorism;HP:0000158|Macroglossia;HP:0001636|Tetralogy of Fallot;HP:0002120|Cerebral cortical atrophy;HP:0002714|Downturned corners of mouth;HP:0000739|Anxiety;HP:0000076|Vesicoureteral reflux;HP:0001510|Growth delay;HP:0011968|Feeding difficulties;HP:0001250|Seizures;HP:0000708|Behavioral abnormality;HP:0100308|Cerebral cortical hemiatrophy;HP:0005469|Flat occiput;HP:0000741|Apathy;HP:0000252|Microcephaly;HP:0000664|Synophrys;HP:0002300|Mutism;HP:0001508|Failure to thrive;HP:0000023|Inguinal hernia;HP:0002360|Sleep disturbance;HP:0010529|Echolalia;HP:0001249|Intellectual disability;HP:0000717|Autism;HP:0001513|Obesity;HP:0002357|Dysphasia;HP:0000463|Anteverted nares;HP:0011097|Epileptic spasms;HP:0100541|Femoral hernia;HP:0010808|Protruding tongue;HP:0001328|Specific learning disability;HP:0000716|Depression;HP:0000737|Irritability;HP:0002121|Absence seizures;HP:0001252|Muscular hypotonia;HP:0001710|Conotruncal defect;HP:0002381|Aphasia;HP:0001671|Abnormality of the cardiac septa;HP:0000035|Abnormality of the testis
hereditary thrombophilia due to congenital protein s deficiency	HP:0000963|Thin skin;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0002204|Pulmonary embolism;HP:0000488|Retinopathy;HP:0002625|Deep venous thrombosis;HP:0005293|Venous insufficiency;HP:0004420|Arterial thrombosis;HP:0001000|Abnormality of skin pigmentation;HP:0100758|Gangrene;HP:0200042|Skin ulcer;HP:0000979|Purpura;HP:0100659|Abnormality of the cerebral vasculature;HP:0004418|Thrombophlebitis;HP:0001933|Subcutaneous hemorrhage
oculotrichoanal syndrome	HP:0002025|Anal stenosis;HP:0001545|Anteriorly placed anus;HP:0000456|Bifid nasal tip;HP:0000579|Nasolacrimal duct obstruction;HP:0000568|Microphthalmia;HP:0000636|Upper eyelid coloboma;HP:0000528|Anophthalmia;HP:0010720|Abnormal hair pattern;HP:0000316|Hypertelorism;HP:0001126|Cryptophthalmos
rothmund-thomson syndrome type 2	HP:0002860|Squamous cell carcinoma;HP:0008404|Nail dystrophy;HP:0000518|Cataract;HP:0001006|Hypotrichosis;HP:0000685|Hypoplasia of teeth;HP:0000561|Absent eyelashes;HP:0002299|Brittle hair;HP:0007495|Prematurely aged appearance;HP:0002669|Osteosarcoma;HP:0000135|Hypogonadism;HP:0002671|Basal cell carcinoma;HP:0001029|Poikiloderma;HP:0002652|Skeletal dysplasia;HP:0002007|Frontal bossing;HP:0002014|Diarrhea;HP:0002017|Nausea and vomiting;HP:0002223|Absent eyebrow;HP:0001903|Anemia;HP:0000982|Palmoplantar keratoderma;HP:0001510|Growth delay;HP:0009778|Short thumb;HP:0002984|Hypoplasia of the radius;HP:0011120|Concave nasal ridge;HP:0000938|Osteopenia;HP:0001875|Neutropenia;HP:0000691|Microdontia;HP:0000992|Cutaneous photosensitivity;HP:0002863|Myelodysplasia
familial calcium pyrophosphate deposition	HP:0002829|Arthralgia;HP:0001250|Seizures;HP:0001369|Arthritis;HP:0100593|Calcification of cartilage;HP:0001386|Joint swelling;HP:0000934|Chondrocalcinosis;HP:0002758|Osteoarthritis;HP:0001373|Joint dislocation;HP:0001376|Limitation of joint mobility;HP:0005108|Abnormality of the intervertebral disk
severe generalized recessive dystrophic epidermolysis bullosa	HP:0000160|Narrow mouth;HP:0000670|Carious teeth;HP:0001802|Absent toenail;HP:0004057|Mitten deformity;HP:0002015|Dysphagia;HP:0004378|Abnormality of the anus;HP:0002019|Constipation;HP:0001644|Dilated cardiomyopathy;HP:0000572|Visual loss;HP:0010296|Ankyloglossia;HP:0004552|Scarring alopecia of scalp;HP:0000987|Atypical scarring of skin;HP:0001371|Flexion contracture;HP:0006739|Squamous cell carcinoma of the skin;HP:0200020|Corneal erosion;HP:0001056|Milia;HP:0001817|Absent fingernail;HP:0008066|Abnormal blistering of the skin;HP:0001510|Growth delay;HP:0000656|Ectropion;HP:0000938|Osteopenia;HP:0000939|Osteoporosis;HP:0000498|Blepharitis;HP:0005505|Refractory anemia;HP:0000823|Delayed puberty;HP:0002043|Esophageal stricture;HP:0000529|Progressive visual loss;HP:0004334|Dermal atrophy;HP:0011457|Loss of eyelashes;HP:0000989|Pruritus;HP:0003073|Hypoalbuminemia
mpi-cdg	HP:0002612|Congenital hepatic fibrosis;HP:0001399|Hepatic failure;HP:0001943|Hypoglycemia;HP:0001004|Lymphedema;HP:0002024|Malabsorption
mendelian susceptibility to mycobacterial diseases due to partial irf8 deficiency	HP:0002716|Lymphadenopathy;HP:0001945|Fever;HP:0010978|Abnormality of immune system physiology
acetazolamide-responsive myotonia	HP:0001276|Hypertonia;HP:0003326|Myalgia;HP:0000597|Ophthalmoparesis;HP:0001288|Gait disturbance;HP:0002015|Dysphagia;HP:0003457|EMG abnormality;HP:0003712|Skeletal muscle hypertrophy;HP:0100749|Chest pain;HP:0003394|Muscle cramps;HP:0002486|Myotonia;HP:0000602|Ophthalmoplegia;HP:0000821|Hypothyroidism
hereditary thrombophilia due to congenital protein c deficiency	HP:0000963|Thin skin;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0002204|Pulmonary embolism;HP:0004936|Venous thrombosis;HP:0005293|Venous insufficiency;HP:0000979|Purpura;HP:0001000|Abnormality of skin pigmentation;HP:0100758|Gangrene;HP:0001038|Warfarin-induced skin necrosis;HP:0100659|Abnormality of the cerebral vasculature
split hand-split foot malformation	HP:0004050|Absent hand;HP:0001171|Split hand;HP:0006101|Finger syndactyly;HP:0000526|Aniridia;HP:0000407|Sensorineural hearing impairment;HP:0012165|Oligodactyly
early-onset generalized limb-onset dystonia	HP:0003011|Abnormality of the musculature;HP:0001276|Hypertonia;HP:0001608|Abnormality of the voice;HP:0100022|Abnormality of movement;HP:0001288|Gait disturbance
isolated hemihyperplasia	HP:0001256|Intellectual disability, mild;HP:0000028|Cryptorchidism;HP:0000324|Facial asymmetry;HP:0001528|Hemihypertrophy;HP:0002667|Nephroblastoma;HP:0002564|Malformation of the heart and great vessels;HP:0002650|Scoliosis;HP:0002475|Myelomeningocele;HP:0001555|Asymmetry of the thorax;HP:0000164|Abnormality of the teeth;HP:0007328|Impaired pain sensation;HP:0000023|Inguinal hernia
recessive dystrophic epidermolysis bullosa inversa	HP:0000160|Narrow mouth;HP:0008404|Nail dystrophy;HP:0000518|Cataract;HP:0000402|Stenosis of the external auditory canal;HP:0002015|Dysphagia;HP:0004378|Abnormality of the anus;HP:0000365|Hearing impairment;HP:0002019|Constipation;HP:0001644|Dilated cardiomyopathy;HP:0010296|Ankyloglossia;HP:0000083|Renal insufficiency;HP:0001371|Flexion contracture;HP:0001075|Atrophic scars;HP:0006739|Squamous cell carcinoma of the skin;HP:0200097|Oral mucosal blisters;HP:0200020|Corneal erosion;HP:0001056|Milia;HP:0000112|Nephropathy;HP:0012473|Tongue atrophy;HP:0008066|Abnormal blistering of the skin;HP:0001903|Anemia;HP:0001510|Growth delay;HP:0000491|Keratitis;HP:0002043|Esophageal stricture;HP:0200041|Skin erosion;HP:0000142|Abnormality of the vagina;HP:0000171|Microglossia;HP:0001581|Recurrent skin infections
hemochromatosis type 2	HP:0000802|Impotence;HP:0002612|Congenital hepatic fibrosis;HP:0002910|Elevated hepatic transaminases;HP:0003281|Increased serum ferritin;HP:0012093|Abnormality of endocrine pancreas physiology;HP:0001324|Muscle weakness;HP:0001254|Lethargy;HP:0000819|Diabetes mellitus;HP:0000939|Osteoporosis;HP:0001644|Dilated cardiomyopathy;HP:0012463|Elevated transferrin saturation;HP:0011031|Abnormality of iron homeostasis;HP:0003040|Arthropathy;HP:0007440|Generalized hyperpigmentation;HP:0000135|Hypogonadism
familial hyperaldosteronism type iii	HP:0008221|Adrenal hyperplasia;HP:0000421|Epistaxis;HP:0011740|Glucocortocoid-insensitive primary hyperaldosteronism;HP:0002018|Nausea;HP:0002150|Hypercalciuria;HP:0001324|Muscle weakness;HP:0002900|Hypokalemia;HP:0001712|Left ventricular hypertrophy;HP:0001657|Prolonged QT interval;HP:0001959|Polydipsia;HP:0011739|Dexamethasone-suppresible primary hyperaldosteronism;HP:0000822|Hypertension;HP:0200114|Metabolic alkalosis;HP:0002170|Intracranial hemorrhage;HP:0000360|Tinnitus;HP:0002315|Headache;HP:0040084|Abnormal circulating renin
maternally-inherited diabetes and deafness	HP:0000518|Cataract;HP:0000544|External ophthalmoplegia;HP:0002019|Constipation;HP:0007754|Macular dystrophy;HP:0000093|Proteinuria;HP:0000083|Renal insufficiency;HP:0001635|Congestive heart failure;HP:0100820|Glomerulopathy;HP:0003326|Myalgia;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0001251|Ataxia;HP:0000532|Chorioretinal abnormality;HP:0003119|Abnormality of lipid metabolism;HP:0000822|Hypertension;HP:0001639|Hypertrophic cardiomyopathy;HP:0000407|Sensorineural hearing impairment;HP:0002024|Malabsorption;HP:0005978|Type II diabetes mellitus;HP:0011675|Arrhythmia;HP:0000505|Visual impairment;HP:0001324|Muscle weakness;HP:0000488|Retinopathy
acral dystrophic epidermolysis bullosa	HP:0001056|Milia;HP:0001075|Atrophic scars;HP:0008404|Nail dystrophy
alg6-cdg	HP:0001399|Hepatic failure;HP:0001263|Global developmental delay;HP:0001252|Muscular hypotonia
xeroderma pigmentosum-cockayne syndrome complex	HP:0000639|Nystagmus;HP:0001025|Urticaria;HP:0004337|Abnormality of amino acid metabolism;HP:0001263|Global developmental delay;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0007495|Prematurely aged appearance;HP:0001260|Dysarthria;HP:0002671|Basal cell carcinoma;HP:0001257|Spasticity;HP:0001029|Poikiloderma;HP:0001251|Ataxia;HP:0006739|Squamous cell carcinoma of the skin;HP:0001289|Confusion;HP:0002861|Melanoma;HP:0000252|Microcephaly;HP:0000648|Optic atrophy;HP:0000651|Diplopia;HP:0001249|Intellectual disability;HP:0000988|Skin rash;HP:0004326|Cachexia;HP:0007108|Demyelinating peripheral neuropathy;HP:0000958|Dry skin;HP:0004334|Dermal atrophy;HP:0000488|Retinopathy;HP:0000992|Cutaneous photosensitivity;HP:0002634|Arteriosclerosis;HP:0007587|Numerous pigmented freckles;HP:0000238|Hydrocephalus
microcephalic osteodysplastic primordial dwarfism types i and iii	HP:0001263|Global developmental delay;HP:0000028|Cryptorchidism;HP:0000470|Short neck;HP:0000520|Proptosis;HP:0002094|Dyspnea;HP:0002748|Rickets;HP:0009912|Abnormality of the tragus;HP:0002133|Status epilepticus;HP:0001006|Hypotrichosis;HP:0003552|Muscle stiffness;HP:0000072|Hydroureter;HP:0001176|Large hands;HP:0003189|Long nose;HP:0000358|Posteriorly rotated ears;HP:0000474|Thickened nuchal skin fold;HP:0010935|Abnormality of the upper urinary tract;HP:0001156|Brachydactyly syndrome;HP:0001257|Spasticity;HP:0007598|Bilateral single transverse palmar creases;HP:0000079|Abnormality of the urinary system;HP:0000347|Micrognathia;HP:0002983|Micromelia;HP:0000126|Hydronephrosis;HP:0000369|Low-set ears;HP:0010443|Bifid femur;HP:0000193|Bifid uvula;HP:0001511|Intrauterine growth retardation;HP:0004279|Short palm;HP:0005108|Abnormality of the intervertebral disk;HP:0100569|Abnormal vertebral ossification;HP:0012471|Thick vermilion border;HP:0001276|Hypertonia;HP:0005613|Aplasia/hypoplasia of the femur;HP:0000494|Downslanted palpebral fissures;HP:0000924|Abnormality of the skeletal system;HP:0001250|Seizures;HP:0003312|Abnormal form of the vertebral bodies;HP:0000175|Cleft palate;HP:0000077|Abnormality of the kidney;HP:0006660|Aplastic clavicles;HP:0001163|Abnormality of the metacarpal bones;HP:0000252|Microcephaly;HP:0000938|Osteopenia;HP:0002063|Rigidity;HP:0000939|Osteoporosis;HP:0001622|Premature birth;HP:0000272|Malar flattening;HP:0000448|Prominent nose;HP:0000268|Dolichocephaly;HP:0004209|Clinodactyly of the 5th finger;HP:0001167|Abnormality of finger;HP:0001249|Intellectual disability;HP:0000278|Retrognathia;HP:0009836|Broad distal phalanx of finger;HP:0009832|Abnormality of the distal phalanx of finger;HP:0045074|Thin eyebrow;HP:0001596|Alopecia;HP:0000269|Prominent occiput;HP:0003510|Severe short stature;HP:0011457|Loss of eyelashes;HP:0002750|Delayed skeletal maturation;HP:0002878|Respiratory failure;HP:0008818|Large iliac wings;HP:0011097|Epileptic spasms;HP:0000414|Bulbous nose;HP:0001328|Specific learning disability;HP:0100530|Abnormality of calcium-phosphate metabolism;HP:0002121|Absence seizures;HP:0003172|Abnormality of the pubic bone;HP:0000501|Glaucoma;HP:0000944|Abnormality of the metaphyses;HP:0002749|Osteomalacia;HP:0000176|Submucous cleft hard palate;HP:0000340|Sloping forehead
brachydactyly type b	HP:0006101|Finger syndactyly;HP:0005048|Synostosis of carpal bones;HP:0005831|Type B brachydactyly;HP:0009773|Symphalangism affecting the phalanges of the hand;HP:0009882|Short distal phalanx of finger;HP:0008083|2nd-5th toe middle phalangeal hypoplasia;HP:0001817|Absent fingernail;HP:0010059|Broad hallux phalanx;HP:0010049|Short metacarpal;HP:0001773|Short foot
familial hyperaldosteronism type i	HP:0008221|Adrenal hyperplasia;HP:0011410|Caesarian section;HP:0000421|Epistaxis;HP:0002018|Nausea;HP:0011739|Dexamethasone-suppresible primary hyperaldosteronism;HP:0001324|Muscle weakness;HP:0001959|Polydipsia;HP:0002900|Hypokalemia;HP:0011746|Secretory adrenocortical adenoma;HP:0100602|Preeclampsia;HP:0000822|Hypertension;HP:0002170|Intracranial hemorrhage;HP:0000360|Tinnitus;HP:0002315|Headache;HP:0040084|Abnormal circulating renin
keratoderma hereditarium mutilans with ichthyosis	HP:0008404|Nail dystrophy;HP:0007465|Honeycomb palmoplantar keratoderma;HP:0001805|Thick nail;HP:0007479|Congenital nonbullous ichthyosiform erythroderma;HP:0009775|Amniotic constriction ring;HP:0000407|Sensorineural hearing impairment;HP:0008064|Ichthyosis
congenital bile acid synthesis defect type 4	HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0001298|Encephalopathy;HP:0005978|Type II diabetes mellitus;HP:0001394|Cirrhosis;HP:0007598|Bilateral single transverse palmar creases;HP:0001396|Cholestasis;HP:0002007|Frontal bossing;HP:0001337|Tremor;HP:0009830|Peripheral neuropathy;HP:0007730|Iris hypopigmentation;HP:0001080|Biliary tract abnormality;HP:0002630|Fat malabsorption;HP:0002240|Hepatomegaly
hereditary central diabetes insipidus	HP:0002013|Vomiting;HP:0001254|Lethargy;HP:0002014|Diarrhea;HP:0000873|Diabetes insipidus;HP:0001824|Weight loss;HP:0000737|Irritability;HP:0001945|Fever;HP:0001510|Growth delay;HP:0001959|Polydipsia
stickler syndrome type 3	HP:0002829|Arthralgia;HP:0000175|Cleft palate;HP:0000347|Micrognathia;HP:0100777|Exostoses;HP:0000162|Glossoptosis;HP:0000343|Long philtrum;HP:0002758|Osteoarthritis;HP:0000272|Malar flattening;HP:0000407|Sensorineural hearing impairment;HP:0000768|Pectus carinatum;HP:0000767|Pectus excavatum;HP:0005916|Abnormal metacarpal morphology
alg1-cdg	HP:0001263|Global developmental delay;HP:0001250|Seizures;HP:0010978|Abnormality of immune system physiology;HP:0001399|Hepatic failure;HP:0000252|Microcephaly;HP:0000112|Nephropathy;HP:0001639|Hypertrophic cardiomyopathy;HP:0000135|Hypogonadism
severe canavan disease	HP:0002020|Gastroesophageal reflux;HP:0001263|Global developmental delay;HP:0001250|Seizures;HP:0001257|Spasticity;HP:0002353|EEG abnormality;HP:0000256|Macrocephaly;HP:0001254|Lethargy;HP:0001259|Coma;HP:0002015|Dysphagia;HP:0000365|Hearing impairment;HP:0000649|Abnormality of visual evoked potentials;HP:0000648|Optic atrophy;HP:0001252|Muscular hypotonia;HP:0000572|Visual loss;HP:0002360|Sleep disturbance;HP:0001249|Intellectual disability
brachydactyly type b2	HP:0001831|Short toe;HP:0006101|Finger syndactyly;HP:0005048|Synostosis of carpal bones;HP:0001857|Short distal phalanx of toe;HP:0005831|Type B brachydactyly;HP:0009773|Symphalangism affecting the phalanges of the hand;HP:0009882|Short distal phalanx of finger;HP:0001817|Absent fingernail;HP:0001773|Short foot
gamma-heavy chain disease	HP:0000988|Skin rash;HP:0001973|Autoimmune thrombocytopenia;HP:0001744|Splenomegaly;HP:0002716|Lymphadenopathy;HP:0001873|Thrombocytopenia;HP:0005561|Abnormality of bone marrow cell morphology;HP:0012378|Fatigue;HP:0002015|Dysphagia;HP:0004332|Abnormality of lymphocytes;HP:0009830|Peripheral neuropathy;HP:0002797|Osteolysis;HP:0002960|Autoimmunity;HP:0001890|Autoimmune hemolytic anemia;HP:0100648|Neoplasm of the tongue;HP:0001945|Fever;HP:0000174|Abnormality of the palate;HP:0002240|Hepatomegaly;HP:0001370|Rheumatoid arthritis;HP:0001903|Anemia;HP:0002205|Recurrent respiratory infections
interatrial communication	HP:0001631|Atrial septal defect
osteogenesis imperfecta congenita, microcephaly, and cataracts	HP:0000963|Thin skin;HP:0000767|Funnel chest;HP:0000252|Small head circumference;HP:0008873|Dwarfism, short-limbed;HP:0002691|Increased basal angle of skull base;HP:0000768|Pectus carinatum;HP:0002645|Extra bones within cranial sutures;HP:0000592|Bluish sclerae;HP:0005855|Congenital bone fractures;HP:0003023|Bowed limbs due to multiple fractures;HP:0005474|Poorly ossified calvaria;HP:0000519|Cataracts, lenticular, bilateral
dermotrichic syndrome	HP:0002353|EEG abnormality;HP:0003508|Proportionate short stature;HP:0001250|Seizures;HP:0008404|Nail dystrophy;HP:0002007|Frontal bossing;HP:0003196|Short nose;HP:0000581|Blepharophimosis;HP:0000966|Hypohidrosis;HP:0003468|Abnormality of the vertebrae;HP:0003355|Aminoaciduria;HP:0000400|Macrotia;HP:0002251|Aganglionic megacolon;HP:0030055|Hyperconvex toenail;HP:0005280|Depressed nasal bridge;HP:0001903|Anemia;HP:0008064|Ichthyosis;HP:0001249|Intellectual disability
spastic paraplegia with precocious puberty	HP:0001939|Laboratory abnormality;HP:0001260|Dysarthric speech;HP:0001258|Spastic paraplegia, lower limb;HP:0000826|Precocious puberty;HP:0001249|Mental retardation
facial dysmorphism with multiple malformations	HP:0400004|Long ear;HP:0002023|Anal atresia;HP:0000465|Pterygium colli;HP:0003196|Short nose;HP:0000316|Increased distance between eye sockets;HP:0000143|Rectovaginal fistula;HP:0001274|Absent corpus callosum;HP:0001629|Ventricular septal defects;HP:0000126|Hydronephrosis;HP:0001636|Tetrology of fallot;HP:0002714|Downturned corners of mouth;HP:0000358|Ear, posterior angulation, increased;HP:0001252|Hypotonia;HP:0001999|Facial dysmorphism;HP:0001194|Abnormalities of placenta or umbilical cord;HP:0000431|Broad nasal root;HP:0000637|Wide palpebral fissure;HP:0001511|Prenatal onset growth retardation;HP:0002162|Low posterior hair line;HP:0002937|Hemivertebra;HP:0000160|Small mouth;HP:0001669|Transposition of the great arteries;HP:0000238|Nonsyndromal hydrocephalus;HP:0000494|Downward slanting palpebral fissures;HP:0000414|Bulbous nose
radial-renal syndrome	HP:0000086|Ectopic kidney;HP:0004322|Stature below 3rd percentile;HP:0009777|Absent thumbs;HP:0003974|Absent ossification/absence of radius;HP:0000104|Renal agenesis;HP:0008572|External ear malformation;HP:0003220|Abnormality of chromosome stability
floating-harbor syndrome; flhs	HP:0000028|Cryptorchidism;HP:0000486|Squint eyes;HP:0010957|Congenital posterior urethral valve;HP:0010230|Cone-shaped epiphyses of the phalanges of the hand;HP:0000233|Decreased volume of lip vermillion;HP:0000490|Sunken eyes;HP:0002608|Celiac disease;HP:0000527|Long eyelashes;HP:0000470|Decreased cervical height;HP:0000047|Hypospadias;HP:0004322|Stature below 3rd percentile;HP:0004209|Clinodactyly of fifth digit;HP:0001680|Coarctation of aorta;HP:0000126|Hydronephrosis;HP:0000540|Hypermetropia;HP:0002714|Downturned corners of mouth;HP:0000358|Ear, posterior angulation, increased;HP:0002474|Expressive language delay;HP:0000121|Nephrocalcinosis;HP:0001388|Joint laxity;HP:0002750|Delayed bone maturation;HP:0000154|Large mouth;HP:0000403|Otitis media, recurrent;HP:0000319|Smooth philtrum;HP:0001537|Umbilical hernias;HP:0012871|Varicocele;HP:0000023|Inguinal hernia;HP:0002162|Low posterior hair line;HP:0000448|Big nose;HP:0011599|Mesocardia;HP:0000405|Conductive hearing loss;HP:0001007|Hirsutism;HP:0000325|Triangular face;HP:0005301|Persistent left superior vena cava;HP:0001631|Atria septal defect
caudal duplication	HP:0000028|Cryptorchidism;HP:0008678|Renal hypoplasia/aplasia;HP:0000078|Abnormality of the genital system;HP:0005107|Abnormality of the sacrum;HP:0003422|Vertebral segmentation defect;HP:0100561|Spinal cord lesion;HP:0009791|Bifid sacrum;HP:0001539|Omphalocele;HP:0002475|Myelomeningocele;HP:0000073|Ureteral duplication;HP:0003762|Uterus didelphys;HP:0100668|Intestinal duplication;HP:0000036|Abnormality of the penis;HP:0100589|Urogenital fistula;HP:0002414|Spina bifida
aortic arch anomaly with peculiar facies and mental retardation	HP:0002627|Right aortic arch with mirror image branching;HP:0001249|Mental retardation;HP:0001999|Facial dysmorphism;HP:0000252|Small head circumference
tendons, extensor, of fingers, anomalous insertion of	HP:0001167|Abnormalities of the fingers
cleft palate, deafness, and oligodontia	HP:0008498|Absence of secondary dentition;HP:0008513|Bilateral conductive hearing impairment;HP:0001852|Wide space between first and second toes;HP:0000185|Cleft velum;HP:0010109|Hypoplastic big toes;HP:0012225|Failure of development of some primary teeth
catecholamine-producing tumor	HP:0000822|Hypertension;HP:0000834|Abnormality of the adrenal glands;HP:0100642|Neoplasm of the adrenal medulla;HP:0008221|Adrenal hyperplasia;HP:0002666|Pheochromocytoma
marfanoid habitus with microcephaly and glomerulonephritis	HP:0002705|High, narrow palate;HP:0000099|Glomerular nephritis;HP:0000303|Increased size of lower jaw;HP:0000252|Small head circumference;HP:0002808|Gibbus deformity;HP:0001388|Joint laxity;HP:0001166|Long, slender fingers;HP:0001519|Dolichostenomelia;HP:0001249|Mental retardation;HP:0000083|Renal insufficiency
spondylocamptodactyly	HP:0100490|Camptodactyly of finger;HP:0004558|Cervical platyspondyly;HP:0002650|Scoliosis
microcephaly with chemotactic defect and transient hypogammaglobulinemia	HP:0000252|Small head circumference;HP:0001371|Flexion contractures of joints;HP:0000400|Large ears;HP:0000411|Prominent ears;HP:0000347|Hypoplasia of mandible;HP:0002650|Scoliosis;HP:0002719|infections, recurrent;HP:0000444|Polly beak nasal deformity;HP:0000340|Receding forehead;HP:0003065|Small patella;HP:0005432|Transient hypogammaglobulinemia of infancy;HP:0000135|Hypogonadism
infundibulopelvic dysgenesis	HP:0002027|Abdominal pain;HP:0002907|Microhematuria;HP:0000003|Multicystic kidney dysplasia
leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis	HP:0001510|Growth deficiency;HP:0001006|Marked hypotrichosis;HP:0001249|Mental retardation;HP:0000668|Failure of development of between one and six teeth
craniosynostosis, sagittal, with dandy-walker malformation and hydrocephalus	HP:0000238|Nonsyndromal hydrocephalus;HP:0007291|Posterior fossa cyst;HP:0001305|Dandy-Walker cyst;HP:0004442|Craniosynostosis, sagittal suture
craniofaciofrontodigital syndrome	HP:0003043|Abnormality of the shoulder;HP:0003196|Short nose;HP:0001156|Brachydactyly syndrome;HP:0008479|Hypoplastic vertebral bodies;HP:0000098|Tall stature;HP:0002007|Frontal bossing;HP:0001537|Umbilical hernia;HP:0000343|Long philtrum;HP:0001172|Abnormality of the thumb;HP:0000574|Thick eyebrow;HP:0000774|Narrow chest;HP:0000772|Abnormality of the ribs;HP:0012471|Thick vermilion border;HP:0000286|Epicanthus;HP:0003272|Abnormality of the hip bone;HP:0002240|Hepatomegaly;HP:0100252|Diaphyseal dysplasia;HP:0000431|Wide nasal bridge;HP:0000023|Inguinal hernia;HP:0011431|Fetal fifth finger clinodactyly;HP:0011220|Prominent forehead;HP:0001626|Abnormality of the cardiovascular system;HP:0002750|Delayed skeletal maturation;HP:0000463|Anteverted nares;HP:0001007|Hirsutism;HP:0000280|Coarse facial features;HP:0009804|Reduced number of teeth
mevalonic aciduria; meva	HP:0000639|Nystagmus;HP:0000518|Cataract;HP:0012282|Morbilliform rash;HP:0000239|Persistent wide fontanel;HP:0000592|Bluish sclerae;HP:0002910|Elevated transaminases;HP:0006564|Fluctuating hepatomegaly;HP:0006268|Fluctuating splenomegaly;HP:0000988|Exanthem;HP:0004322|Stature below 3rd percentile;HP:0002059|Degeneration of cerebrum;HP:0000369|Low-set ears;HP:0002014|Diarrhea;HP:0002013|Emesis;HP:0004819|Normocytic hypoplastic anemia;HP:0000358|Ear, posterior angulation, increased;HP:0001252|Hypotonia;HP:0000252|Small head circumference;HP:0002751|Kyphoscoliosis;HP:0001263|Developmental retardation;HP:0002073|Cerebellar ataxia, progressive;HP:0003236|Elevated creatine kinase;HP:0001508|Weight faltering;HP:0000969|Dropsy;HP:0000268|Dolichocephaly;HP:0001873|Low platelet count;HP:0001974|Leukocytosis;HP:0001272|Cerebellar atrophy;HP:0000325|Triangular face;HP:0000494|Downward slanting palpebral fissures;HP:0002335|Agenesis of cerebellar vermis;HP:0002716|Lymph node hyperplasia;HP:0012072|Aciduria;HP:0002829|Arthralgias
47,xyy syndrome	HP:0000028|Cryptorchidism;HP:0000798|Oligospermia;HP:0000027|Azoospermia;HP:0002099|Asthma;HP:0000750|Delayed speech and language development;HP:0000752|Hyperactivity;HP:0000047|Hypospadias;HP:0000098|Tall stature;HP:0001270|Motor delay;HP:0000369|Low-set ears;HP:0000316|Hypertelorism;HP:0000837|Increased circulating gonadotropin level;HP:0040019|Finger clinodactyly;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0000729|Autistic behavior;HP:0000735|Impaired social interactions;HP:0000256|Macrocephaly;HP:0007642|Congenital stationary night blindness;HP:0002363|Abnormality of brainstem morphology;HP:0003251|Male infertility;HP:0000272|Malar flattening;HP:0007018|Attention deficit hyperactivity disorder;HP:0007033|Cerebellar dysplasia;HP:0012871|Varicocele;HP:0001249|Intellectual disability;HP:0001319|Neonatal hypotonia;HP:0000053|Macroorchidism;HP:0002195|Dysgenesis of the cerebellar vermis;HP:0030088|Increased serum testosterone level;HP:0100710|Impulsivity;HP:0001328|Specific learning disability;HP:0000054|Micropenis;HP:0000238|Hydrocephalus
ptosis, strabismus, and ectopic pupils	HP:0000508|Drooping upper eyelid;HP:0000486|Squint eyes
renal tubulopathy, diabetes mellitus, and cerebellar ataxia	HP:0007610|Blotching pigmentation of the skin;HP:0002240|Enlarged liver;HP:0002748|Rickets;HP:0000365|Hearing impairment;HP:0002376|Loss of developmental milestones;HP:0001336|Myoclonic jerks;HP:0001251|Ataxia;HP:0000618|Blindness;HP:0002014|Diarrhea;HP:0007702|Retinal pigment clumping;HP:0001944|Dehydration;HP:0007511|Mottled pigmentation of photoexposed areas;HP:0001252|Hypotonia;HP:0100651|Type I diabetes mellitus;HP:0000103|Polyuria;HP:0000939|Osteoporosis;HP:0001508|Weight faltering;HP:0000550|Absent electroretinogram;HP:0000597|Ophthalmoparesis;HP:0000114|Proximal tubular defect;HP:0000508|Drooping upper eyelid;HP:0002013|Emesis
mosaic trisomy 15	HP:0002916|Abnormality of chromosome segregation;HP:0001155|Abnormality of the hand;HP:0000707|Abnormality of the nervous system;HP:0100490|Camptodactyly of finger;HP:0001252|Muscular hypotonia;HP:0004097|Deviation of finger
familial tumoral calcinosis	HP:0000988|Skin rash;HP:0010783|Erythema;HP:0000168|Abnormality of the gingiva;HP:0001744|Splenomegaly;HP:0000975|Hyperhidrosis;HP:0000230|Gingivitis;HP:0100249|Calcification of muscles;HP:0000121|Nephrocalcinosis;HP:0001053|Hypopigmented skin patches;HP:0002653|Bone pain;HP:0001482|Subcutaneous nodule;HP:0100774|Hyperostosis;HP:0000164|Abnormality of the teeth;HP:0007470|Periarticular subcutaneous nodules;HP:0000174|Abnormality of the palate;HP:0002240|Hepatomegaly;HP:0008069|Neoplasm of the skin;HP:0001609|Hoarse voice
mesomelic limb shortening and bowing	HP:0005011|Upper limb brachymesomelia;HP:0006488|Bending of the arm;HP:0004987|Mesomelia of the lower limbs;HP:0000347|Hypoplasia of mandible;HP:0100490|Camptodactyly of finger;HP:0000278|Receding lower jaw;HP:0002979|Bowing of the legs;HP:0000175|Palatoschisis
cortical blindness, retardation, and postaxial polydactyly	HP:0001507|Abnormal growth;HP:0001263|Developmental retardation;HP:0003196|Short nose;HP:0002007|Frontal protruberance;HP:0000343|Vertical hyperplasia of philtrum;HP:0100704|Cortical visual impairment;HP:0000308|Retromicrognathia;HP:0011220|Prominent forehead
velofacioskeletal syndrome	HP:0002705|High, narrow palate;HP:0001169|Wide palm;HP:0000286|Palpebronasal fold;HP:0004322|Stature below 3rd percentile;HP:0005639|Hyperextensible hand joints;HP:0001611|Hypernasal speech;HP:0004279|Hypoplastic hands;HP:0000426|Protruding bridge of nose;HP:0000218|Increased palatal height;HP:0002750|Delayed bone maturation;HP:0001773|Small feet;HP:0000316|Increased distance between eye sockets;HP:0009778|Small thumbs;HP:0000431|Broad nasal root;HP:0001212|Prominent finger pads;HP:0000189|Decreased transverse dimension of palate;HP:0000358|Ear, posterior angulation, increased
trochlea of the humerus, aplasia of	HP:0000175|Palatoschisis;HP:0005792|Short upper arms
retinohepatoendocrinologic syndrome	HP:0200067|Recurrent spontaneous abortion;HP:0000789|Infertility;HP:0003236|Elevated serum creatine phosphokinase;HP:0004904|Maturity-onset diabetes of the young;HP:0007641|Dyschromatopsia;HP:0000543|Optic disc pallor;HP:0001410|Decreased liver function;HP:0007703|Abnormality of retinal pigmentation;HP:0000821|Hypothyroidism
myoclonus, cerebellar ataxia, and deafness	HP:0000365|Hearing impairment;HP:0001336|Myoclonic jerks;HP:0001251|Ataxia
paternal uniparental disomy of chromosome 6	HP:0000028|Cryptorchidism;HP:0000363|Abnormality of earlobe;HP:0000826|Precocious puberty;HP:0001629|Ventricular septal defect;HP:0000237|Small anterior fontanelle;HP:0001562|Oligohydramnios;HP:0000065|Labial hypertrophy;HP:0000218|High palate;HP:0008897|Postnatal growth retardation;HP:0010866|Abdominal wall defect;HP:0002643|Neonatal respiratory distress;HP:0000347|Micrognathia;HP:0001537|Umbilical hernia;HP:0000158|Macroglossia;HP:0001643|Patent ductus arteriosus;HP:0001640|Cardiomegaly;HP:0001511|Intrauterine growth retardation;HP:0001944|Dehydration;HP:0000271|Abnormality of the face;HP:0000857|Neonatal insulin-dependent diabetes mellitus;HP:0000586|Shallow orbits;HP:0002240|Hepatomegaly;HP:0000448|Prominent nose;HP:0000278|Retrognathia;HP:0000269|Prominent occiput;HP:0000212|Gingival overgrowth;HP:0001804|Hypoplastic fingernail;HP:0002123|Generalized myoclonic seizures;HP:0001380|Ligamentous laxity;HP:0100767|Abnormality of the placenta
mucopolysaccharidosis type 7	HP:0008430|Anterior beaking of lumbar vertebrae;HP:0100026|Arteriovenous malformation;HP:0000470|Short neck;HP:0005019|Diaphyseal thickening;HP:0001004|Lymphedema;HP:0001789|Hydrops fetalis;HP:0002205|Recurrent respiratory infections;HP:0012368|Flat face;HP:0001537|Umbilical hernia;HP:0004607|Anterior beaking of lower thoracic vertebrae;HP:0001541|Ascites;HP:0007957|Corneal opacity;HP:0002650|Scoliosis;HP:0003272|Abnormality of the hip bone;HP:0100625|Enlarged thorax;HP:0000023|Inguinal hernia;HP:0002103|Abnormality of the pleura;HP:0001249|Intellectual disability;HP:0001744|Splenomegaly;HP:0010655|Epiphyseal stippling;HP:0001387|Joint stiffness;HP:0008155|Mucopolysacchariduria;HP:0001840|Metatarsus adductus;HP:0000280|Coarse facial features;HP:0012115|Hepatitis;HP:0001252|Muscular hypotonia
x-linked intellectual disability, siderius type	HP:0000202|Oral cleft;HP:0000028|Cryptorchidism;HP:0000455|Broad nasal tip;HP:0001256|Intellectual disability, mild;HP:0001177|Preaxial hand polydactyly;HP:0002162|Low posterior hairline;HP:0000276|Long face;HP:0002650|Scoliosis;HP:0000204|Cleft upper lip;HP:0000664|Synophrys;HP:0001176|Large hands;HP:0008734|Decreased testicular size;HP:0001249|Mental retardation
x-linked intellectual disability, golabi-ito-hall type	HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000411|Protruding ear;HP:0000582|Upslanted palpebral fissure;HP:0001257|Spasticity;HP:0008404|Nail dystrophy;HP:0004322|Short stature;HP:0000276|Long face;HP:0000275|Narrow face;HP:0000252|Microcephaly;HP:0000158|Macroglossia;HP:0000325|Triangular face;HP:0001264|Spastic diplegia;HP:0002299|Brittle hair;HP:0000378|Cupped ear;HP:0011359|Dry hair;HP:0001631|Atrial septal defect;HP:0001510|Growth delay;HP:0001249|Intellectual disability
spastic quadriplegia, retinitis pigmentosa, and mental retardation	HP:0000365|Hearing impairment;HP:0001249|Mental retardation;HP:0000510|Retinitis pigmentosa;HP:0000572|Visual loss;HP:0002510|Spastic quadriplegia
ectodermal dysplasia and neurosensory deafness	HP:0002943|Thoracic scoliosis;HP:0007529|Hidrotic ectodermal dysplasia;HP:0000407|sensorineural hearing loss;HP:0009473|Joint contracture of the hand
deafness with labyrinthine aplasia, microtia, and microdontia	HP:0000307|Pointed chin;HP:0000698|Conical tooth;HP:0000365|Hearing impairment;HP:0000098|Tall stature;HP:0000347|Micrognathia;HP:0008499|High-grade hypermetropia;HP:0000276|Long face;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0000668|Hypodontia;HP:0001291|Abnormality of the cranial nerves;HP:0000407|Sensorineural hearing impairment;HP:0000494|Downslanted palpebral fissures;HP:0011372|Aplasia of the inner ear;HP:0000664|Synophrys;HP:0000448|Prominent nose;HP:0000431|Wide nasal bridge;HP:0010609|Skin tags;HP:0000691|Microdontia;HP:0000687|Widely spaced teeth;HP:0008551|Microtia;HP:0011069|Increased number of teeth;HP:0000430|Underdeveloped nasal alae
acroosteolysis dominant type	HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0002645|Wormian bones;HP:0000347|Micrognathia;HP:0000506|Telecanthus;HP:0002564|Malformation of the heart and great vessels;HP:0000343|Long philtrum;HP:0200042|Skin ulcer;HP:0000175|Cleft palate;HP:0000256|Macrocephaly;HP:0001508|Failure to thrive;HP:0002230|Generalized hirsutism;HP:0000431|Wide nasal bridge;HP:0001744|Splenomegaly;HP:0000269|Prominent occiput;HP:0002566|Intestinal malrotation;HP:0001072|Thickened skin;HP:0004586|Biconcave vertebral bodies;HP:0001231|Abnormality of the fingernails;HP:0100670|Rough bone trabeculation;HP:0005562|Multiple renal cysts;HP:0000545|Myopia;HP:0000929|Abnormality of the skull;HP:0000233|Thin vermilion border;HP:0002999|Patellar dislocation;HP:0000445|Wide nose;HP:0000047|Hypospadias;HP:0002829|Arthralgia;HP:0002652|Skeletal dysplasia;HP:0000704|Periodontitis;HP:0009830|Peripheral neuropathy;HP:0000164|Abnormality of the teeth;HP:0000612|Iris coloboma;HP:0000294|Low anterior hairline;HP:0000277|Abnormality of the mandible;HP:0001608|Abnormality of the voice;HP:0002240|Hepatomegaly;HP:0000023|Inguinal hernia;HP:0000958|Dry skin;HP:0010807|Open bite;HP:0008424|Hypoplastic 5th lumbar vertebrae;HP:0000238|Hydrocephalus;HP:0002315|Headache;HP:0009882|Short distal phalanx of finger;HP:0000160|Narrow mouth;HP:0001650|Aortic valve stenosis;HP:0002653|Bone pain;HP:0001629|Ventricular septal defect;HP:0001718|Mitral stenosis;HP:0002797|Osteolysis;HP:0001156|Brachydactyly syndrome;HP:0003396|Syringomyelia;HP:0000369|Low-set ears;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0001643|Patent ductus arteriosus;HP:0002308|Arnold-Chiari malformation;HP:0002714|Downturned corners of mouth;HP:0002208|Coarse hair;HP:0000494|Downslanted palpebral fissures;HP:0001831|Short toe;HP:0002688|Absent frontal sinuses;HP:0000293|Full cheeks;HP:0002757|Recurrent fractures;HP:0002650|Scoliosis;HP:0011305|Partial absence of toe;HP:0000939|Osteoporosis;HP:0002808|Kyphosis;HP:0000823|Delayed puberty;HP:0000463|Anteverted nares;HP:0000280|Coarse facial features;HP:0000768|Pectus carinatum;HP:0000470|Short neck;HP:0006487|Bowing of the long bones;HP:0000518|Cataract;HP:0002205|Recurrent respiratory infections;HP:0002691|Platybasia;HP:0001537|Umbilical hernia;HP:0000574|Thick eyebrow;HP:0004331|Decreased skull ossification;HP:0000938|Osteopenia;HP:0000664|Synophrys;HP:0001999|Abnormal facial shape;HP:0000268|Dolichocephaly;HP:0100790|Hernia;HP:0010669|Cheekbone underdevelopment
larynx, congenital partial atresia of	HP:0005945|Laryngeal obstruction;HP:0005950|Laryngeal webs
spinocerebellar ataxia with dysmorphism	HP:0001252|Hypotonia;HP:0002208|Coarse hair texture;HP:0000508|Drooping upper eyelid;HP:0001760|Foot deformities;HP:0001251|Ataxia;HP:0001263|Developmental retardation;HP:0001265|Decreased tendon reflexes;HP:0003196|Short nose;HP:0002650|Scoliosis;HP:0001272|Cerebellar atrophy;HP:0000463|Nostrils anteverted;HP:0003487|Extensor plantar reflexes;HP:0000280|Coarse facial features;HP:0001260|Dysarthric speech;HP:0000179|Plump lower lip;HP:0002714|Downturned corners of mouth;HP:0000337|Increased bitemporal dimension
superficial pemphigus	HP:0200041|Skin erosion;HP:0100792|Acantholysis
triose phosphate-isomerase deficiency	HP:0010978|Abnormality of immune system physiology;HP:0007009|Central nervous system degeneration;HP:0001639|Hypertrophic cardiomyopathy;HP:0001252|Muscular hypotonia;HP:0006597|Diaphragmatic paralysis;HP:0000762|Decreased nerve conduction velocity;HP:0003202|Skeletal muscle atrophy
microphthalmia, lenz type	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0100716|Self-injurious behavior;HP:0000588|Optic nerve coloboma;HP:0000568|Microphthalmia;HP:0003043|Abnormality of the shoulder;HP:0000518|Cataract;HP:0004322|Short stature;HP:0009943|Complete duplication of thumb phalanx;HP:0000072|Hydroureter;HP:0000365|Hearing impairment;HP:0100818|Long thorax;HP:0000047|Hypospadias;HP:0008678|Renal hypoplasia/aplasia;HP:0006101|Finger syndactyly;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0000126|Hydronephrosis;HP:0002564|Malformation of the heart and great vessels;HP:0003307|Hyperlordosis;HP:0002167|Neurological speech impairment;HP:0000465|Webbed neck;HP:0006482|Abnormality of dental morphology;HP:0000164|Abnormality of the teeth;HP:0000684|Delayed eruption of teeth;HP:0000384|Preauricular skin tag;HP:0000612|Iris coloboma;HP:0000889|Abnormality of the clavicle;HP:0001250|Seizures;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0002808|Kyphosis;HP:0004209|Clinodactyly of the 5th finger;HP:0001249|Intellectual disability;HP:0000202|Oral cleft;HP:0000567|Chorioretinal coloboma;HP:0000505|Visual impairment;HP:0009755|Ankyloblepharon;HP:0100490|Camptodactyly of finger;HP:0000368|Low-set, posteriorly rotated ears;HP:0008572|External ear malformation;HP:0000501|Glaucoma;HP:0000482|Microcornea
aica-ribosiduria	HP:0001250|Seizures;HP:0010864|Intellectual disability, severe;HP:0000154|Wide mouth;HP:0000219|Thin upper lip vermilion;HP:0000369|Low-set ears;HP:0000248|Brachycephaly;HP:0011220|Prominent forehead;HP:0007875|Congenital blindness;HP:0008665|Clitoral hypertrophy;HP:0000063|Fused labia minora
postaxial oligodactyly, tetramelic	HP:0002986|Bowed radii;HP:0000954|Simian creases;HP:0001830|Posterior polydactyly of foot;HP:0010579|Cone-shaped epiphyses;HP:0004251|Lunate-triquetral fusion;HP:0010046|Absent 5th metacarpal;HP:0006210|Postaxial oligodactyly;HP:0008079|Absent fifth metatarsal;HP:0006209|Partial-complete absence of 5th digital bone;HP:0001162|Postaxial polydactyly of fingers
renal, genital, and middle ear anomalies	HP:0000365|Hearing impairment;HP:0008678|Renal aplasia/hypoplasia;HP:0000148|Vaginal atresia;HP:0004452|Abnormality of the middle ear ossicles
encephalocraniocutaneous lipomatosis; eccl	HP:0000028|Cryptorchidism;HP:0002079|Hypoplasia of the corpus callosum;HP:0000647|Sclerocornea;HP:0001682|Subvalvular aortic stenosis;HP:0000593|Anterior chamber anomalies;HP:0012032|Lipoma;HP:0001274|Absent corpus callosum;HP:0007676|Hypoplasia of the iris;HP:0004969|peripheral pulmonary stenosis;HP:0001031|Subcutaneous lipoma;HP:0100702|Arachnoid cyst;HP:0000126|Hydronephrosis;HP:0100251|Lipomas of the central neryous system;HP:0000125|Pelvic kidney;HP:0002539|Cortical dysplasia;HP:0007546|Linear hyperpigmentation;HP:0001250|Seizures;HP:0001305|Dandy-Walker cyst;HP:0001263|Developmental retardation;HP:0001140|Epibulbar dermoid;HP:0001596|Hair loss;HP:0000625|Eyelid coloboma;HP:0000238|Nonsyndromal hydrocephalus;HP:0000568|Abnormally small globe of eye;HP:0001321|Small cerebellum;HP:0001631|Atria septal defect
primary cutis verticis gyrata	HP:0000639|Nystagmus;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0000518|Cataract;HP:0000486|Strabismus;HP:0000252|Microcephaly;HP:0001072|Thickened skin;HP:0002120|Cerebral cortical atrophy;HP:0003764|Nevus;HP:0001249|Intellectual disability
dystrophic epidermolysis bullosa, nails only	HP:0001810|Dystrophic toenail;HP:0008404|Nail dystrophy;HP:0001802|Absent toenail
contractures, congenital, torticollis, and malignant hyperthermia	HP:0000473|Spasmodic torticollis;HP:0000277|Abnormality of the lower jaw bone;HP:0000175|Palatoschisis;HP:0000695|Natal teeth;HP:0002804|Arthrogryposis multiplex congenita;HP:0002047|Malignant hyperthermia
steatocystoma multiplex with natal teeth	HP:0012035|Steatocystoma multiplex;HP:0001597|Abnormality of the nail;HP:0000695|Natal teeth
cortical defects, wormian bones, and dentinogenesis imperfecta	HP:0000883|Slender ribs;HP:0004322|Stature below 3rd percentile;HP:0001476|Late closure of the bregma sutures;HP:0000670|Dental caries;HP:0011918|Clinodactyly of the 4th toe;HP:0002645|Extra bones within cranial sutures;HP:0000629|Periorbital puffiness;HP:0002659|Increased tendency to fractures;HP:0001555|Asymmetry of the thorax;HP:0000316|Increased distance between eye sockets;HP:0001377|Restricted elbow extension;HP:0004990|Epiphyseal streaking;HP:0000268|Dolichocephaly;HP:0008115|3rd toe clinodactyly;HP:0000703|Dentinogenesis imperfecta
congenital central diabetes insipidus	HP:0100515|Pollakisuria;HP:0000873|Diabetes insipidus;HP:0001959|Polydipsia
pierre robin sequence with facial and digital anomalies	HP:0001795|Hyperconvex nail;HP:0000162|Retraction of the tongue;HP:0004209|Clinodactyly of fifth digit;HP:0000348|High forehead;HP:0005747|Easily subluxated first metacarpophalangeal joints;HP:0000347|Hypoplasia of mandible;HP:0001182|Tapered finger;HP:0009882|Hypoplastic terminal phalanges;HP:0002007|Frontal protruberance;HP:0000175|Palatoschisis;HP:0000201|Pierre-robin deformity
sagliker syndrome	HP:0002515|Waddling gait;HP:0002829|Arthralgia;HP:0002007|Frontal bossing;HP:0004322|Short stature;HP:0003165|Elevated circulating parathyroid hormone level;HP:0002814|Abnormality of the lower limb;HP:0000716|Depression;HP:0001999|Abnormal facial shape;HP:0000164|Abnormality of the teeth;HP:0005101|High-frequency hearing impairment;HP:0012290|Mouth neoplasm;HP:0000739|Anxiety;HP:0001167|Abnormality of finger
madras motor neuron disease	HP:0001317|Abnormality of the cerebellum;HP:0003693|Distal amyotrophy;HP:0000505|Visual impairment;HP:0100753|Schizophrenia;HP:0002015|Dysphagia;HP:0001283|Bulbar palsy;HP:0010628|Facial palsy;HP:0002460|Distal muscle weakness;HP:0000648|Optic atrophy;HP:0001315|Reduced tendon reflexes;HP:0000407|Sensorineural hearing impairment;HP:0007289|Limb fasciculations;HP:0000360|Tinnitus;HP:0001621|Weak voice;HP:0007663|Reduced visual acuity;HP:0003487|Babinski sign;HP:0006801|Hyperactive deep tendon reflexes
rin2 syndrome	HP:0000028|Cryptorchidism;HP:0000815|Hypergonadotropic hypogonadism;HP:0100543|Cognitive impairment;HP:0011232|Infra-orbital fold;HP:0012724|Upper eyelid edema;HP:0000978|Bruising susceptibility;HP:0000218|High palate;HP:0000974|Hyperextensible skin;HP:0011003|Severe Myopia;HP:0000766|Abnormality of the sternum;HP:0001156|Brachydactyly syndrome;HP:0001724|Aortic dilatation;HP:0040079|Irregular dentition;HP:0001537|Umbilical hernia;HP:0000343|Long philtrum;HP:0002659|Increased susceptibility to fractures;HP:0000494|Downslanted palpebral fissures;HP:0000159|Abnormality of the lip;HP:0008209|Premature ovarian failure;HP:0002209|Sparse scalp hair;HP:0002650|Scoliosis;HP:0001382|Joint hypermobility;HP:0001582|Redundant skin;HP:0001007|Hirsutism;HP:0001763|Pes planus;HP:0000280|Coarse facial features;HP:0001620|High pitched voice;HP:0000212|Gingival overgrowth
tetrasomy 5p	HP:0001263|Global developmental delay;HP:0011800|Midface retrusion;HP:0000470|Short neck;HP:0002089|Pulmonary hypoplasia;HP:0003196|Short nose;HP:0006931|Lipoma of corpus callosum;HP:0002880|Respiratory difficulties;HP:0001612|Weak cry;HP:0001321|Cerebellar hypoplasia;HP:0000358|Posteriorly rotated ears;HP:0008897|Postnatal growth retardation;HP:0030148|Heart murmur;HP:0000218|High palate;HP:0007483|Depigmentation/hyperpigmentation of skin;HP:0000767|Pectus excavatum;HP:0005989|Redundant neck skin;HP:0002205|Recurrent respiratory infections;HP:0001635|Congestive heart failure;HP:0000961|Cyanosis;HP:0000582|Upslanted palpebral fissure;HP:0000347|Micrognathia;HP:0007930|Prominent epicanthal folds;HP:0012368|Flat face;HP:0010109|Short hallux;HP:0001845|Overlapping toe;HP:0000369|Low-set ears;HP:0001762|Talipes equinovarus;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0004467|Preauricular pit;HP:0010318|Aplasia/Hypoplasia of the abdominal wall musculature;HP:0001250|Seizures;HP:0000256|Macrocephaly;HP:0000293|Full cheeks;HP:0000260|Wide anterior fontanel;HP:0001508|Failure to thrive;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0001319|Neonatal hypotonia;HP:0000463|Anteverted nares;HP:0000280|Coarse facial features;HP:0100807|Long fingers;HP:0002092|Pulmonary arterial hypertension;HP:0000238|Hydrocephalus
fibromatosis, gingival, with distinctive facies	HP:0000169|Gingival fibrous nodules;HP:0001999|Facial dysmorphism;HP:0040079|Irregular dentition;HP:0006335|Delayed loss of primary teeth;HP:0000218|Increased palatal height;HP:0000951|dermatopathy;HP:0005280|Flat, nasal bridge;HP:0000256|Macrocrania;HP:0000316|Increased distance between eye sockets;HP:0000696|Delayed eruption of secondary dentition;HP:0012471|Plump lips;HP:0000494|Downward slanting palpebral fissures;HP:0000574|Thick eyebrow;HP:0000232|Everted prominent lower lip;HP:0000664|Unibrow;HP:0000430|Nasal cartilage hypoplasia
phace syndrome	HP:0000284|Abnormality of the ocular region;HP:0001263|Global developmental delay;HP:0001274|Agenesis of corpus callosum;HP:0000568|Microphthalmia;HP:0000518|Cataract;HP:0000646|Amblyopia;HP:0000647|Sclerocornea;HP:0001321|Cerebellar hypoplasia;HP:0000766|Abnormality of the sternum;HP:0000508|Ptosis;HP:0001627|Abnormal heart morphology;HP:0009145|Abnormality of cerebral artery;HP:0001680|Coarctation of aorta;HP:0000486|Strabismus;HP:0002408|Cerebral arteriovenous malformation;HP:0001636|Tetralogy of Fallot;HP:0004374|Hemiplegia/hemiparesis;HP:0100028|Ectopic thyroid;HP:0005306|Capillary hemangiomas;HP:0000612|Iris coloboma;HP:0001250|Seizures;HP:0000252|Microcephaly;HP:0001100|Heterochromia iridis;HP:0100761|Visceral angiomatosis;HP:0007797|Retinal vascular malformation;HP:0001305|Dandy-Walker malformation;HP:0000609|Optic nerve hypoplasia;HP:0002616|Aortic root dilatation;HP:0005344|Abnormality of the carotid arteries;HP:0001252|Muscular hypotonia;HP:0000501|Glaucoma;HP:0001671|Abnormality of the cardiac septa;HP:0000821|Hypothyroidism;HP:0100719|Lens coloboma
kcnq2-related epileptic encephalopathy	HP:0001263|Global developmental delay;HP:0002453|Abnormality of the globus pallidus;HP:0002079|Hypoplasia of the corpus callosum;HP:0012736|Profound global developmental delay;HP:0010851|EEG with burst suppression;HP:0001332|Dystonia;HP:0010818|Generalized tonic seizures;HP:0002521|Hypsarrhythmia;HP:0001041|Facial erythema;HP:0007015|Poor gross motor coordination;HP:0011968|Feeding difficulties;HP:0200134|Epileptic encephalopathy;HP:0001250|Seizures;HP:0002059|Cerebral atrophy;HP:0002181|Cerebral edema;HP:0001249|Intellectual disability;HP:0002540|Inability to walk;HP:0011097|Epileptic spasms;HP:0002500|Abnormality of the cerebral white matter;HP:0001252|Muscular hypotonia;HP:0000980|Pallor;HP:0002104|Apnea
thumb deformity and alopecia	HP:0001596|Hair loss;HP:0004322|Stature below 3rd percentile;HP:0006315|Single central upper incisor;HP:0007450|Increased groin pigmentation with raindrop depigmentation;HP:0009778|Small thumbs;HP:0001249|Mental retardation
tsh-secreting pituitary adenoma	HP:0000044|Hypogonadotrophic hypogonadism;HP:0011734|Central adrenal insufficiency;HP:0002920|Decreased circulating ACTH level;HP:0002013|Vomiting;HP:0100639|Erectile abnormalities;HP:0011748|Adrenocorticotropic hormone deficiency;HP:0012378|Fatigue;HP:0007942|Internal ophthalmoplegia;HP:0000845|Growth hormone excess;HP:0001824|Weight loss;HP:0001117|Sudden loss of visual acuity;HP:0000508|Ptosis;HP:0000135|Hypogonadism;HP:0001698|Pericardial effusion;HP:0001635|Congestive heart failure;HP:0012505|Enlarged pituitary gland;HP:0000618|Blindness;HP:0030521|Bitemporal hemianopia;HP:0000837|Increased circulating gonadotropin level;HP:0000134|Female hypogonadism;HP:0000822|Hypertension;HP:0002017|Nausea and vomiting;HP:0002615|Hypotension;HP:0005115|Supraventricular arrhythmia;HP:0003335|Low gonadotropins (secondary hypogonadism);HP:0000140|Abnormality of the menstrual cycle;HP:0006897|Cranial nerve VI palsy;HP:0011782|Thyroid crisis;HP:0000858|Menstrual irregularities;HP:0007011|Fourth cranial nerve palsy;HP:0012246|Oculomotor nerve palsy;HP:0001250|Seizures;HP:0008247|Euthyroid hyperthyroxinemia;HP:0000771|Gynecomastia;HP:0000975|Hyperhidrosis;HP:0000026|Male hypogonadism;HP:0011357|Abnormality of hair density;HP:0002900|Hypokalemia;HP:0011735|Adrenocorticotropin deficient adrenal insufficiency;HP:0003388|Easy fatigability;HP:0000868|Decreased fertility in females;HP:0000938|Osteopenia;HP:0000939|Osteoporosis;HP:0030517|Heteronymous hemianopia;HP:0000823|Delayed puberty;HP:0000651|Diplopia;HP:0000529|Progressive visual loss;HP:0002925|Thyroid-stimulating hormone excess;HP:0008153|Periodic hypokalemic paresis;HP:0030588|Abnormal visual field test;HP:0004308|Ventricular arrhythmia;HP:0000802|Impotence;HP:0000853|Goiter;HP:0001962|Palpitations;HP:0012377|Hemianopsia;HP:0000870|Prolactin excess;HP:0000789|Infertility;HP:0002321|Vertigo;HP:0030018|Decreased female libido;HP:0012503|Abnormality of the pituitary gland;HP:0001337|Tremor;HP:0006824|Cranial nerve paralysis;HP:0012041|Decreased fertility in males;HP:0000980|Pallor;HP:0002315|Headache;HP:0008240|Secondary growth hormone deficiency;HP:0000836|Hyperthyroidism
hereditary acrokeratotic poikiloderma, weary type	HP:0002860|Squamous cell carcinoma;HP:0001025|Urticaria;HP:0000160|Narrow mouth;HP:0000262|Turricephaly;HP:0001810|Dystrophic toenail;HP:0008404|Nail dystrophy;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0100585|Telangiectasia of the skin;HP:0000929|Abnormality of the skull;HP:0006740|Transitional cell carcinoma of the bladder;HP:0008064|Ichthyosis;HP:0000972|Palmoplantar hyperkeratosis;HP:0000217|Xerostomia;HP:0006323|Premature loss of primary teeth;HP:0010296|Ankyloglossia;HP:0010783|Erythema;HP:0000963|Thin skin;HP:0100587|Abnormality of the preputium;HP:0006101|Finger syndactyly;HP:0001053|Hypopigmented skin patches;HP:0002745|Oral leukoplakia;HP:0005692|Joint hyperflexibility;HP:0200034|Papule;HP:0100669|Abnormal pigmentation of the oral mucosa;HP:0000164|Abnormality of the teeth;HP:0200042|Skin ulcer;HP:0000772|Abnormality of the ribs;HP:0008066|Abnormal blistering of the skin;HP:0000924|Abnormality of the skeletal system;HP:0000230|Gingivitis;HP:0000656|Ectropion;HP:0007400|Irregular hyperpigmentation;HP:0000211|Trismus;HP:0000225|Gingival bleeding;HP:0001163|Abnormality of the metacarpal bones;HP:0003272|Abnormality of the hip bone;HP:0000795|Abnormality of the urethra;HP:0008391|Dystrophic fingernails;HP:0010807|Open bite;HP:0100490|Camptodactyly of finger;HP:0000964|Eczema;HP:0011024|Abnormality of the gastrointestinal tract;HP:0001096|Keratoconjunctivitis;HP:0007759|Opacification of the corneal stroma;HP:0200039|Pustule;HP:0000091|Abnormality of the renal tubule
neurocutaneous melanocytosis	HP:0002119|Ventriculomegaly;HP:0001269|Hemiparesis;HP:0002383|Encephalitis;HP:0002269|Abnormality of neuronal migration;HP:0005603|Numerous congenital melanocytic nevi;HP:0008678|Renal hypoplasia/aplasia;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0003396|Syringomyelia;HP:0001522|Death in infancy;HP:0002308|Arnold-Chiari malformation;HP:0002435|Meningocele;HP:0002861|Melanoma;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0000708|Behavioral abnormality;HP:0002664|Neoplasm;HP:0004936|Venous thrombosis;HP:0002230|Generalized hirsutism;HP:0007703|Abnormality of retinal pigmentation;HP:0001305|Dandy-Walker malformation;HP:0000995|Melanocytic nevus;HP:0001249|Intellectual disability;HP:0000567|Chorioretinal coloboma;HP:0001072|Thickened skin;HP:0006824|Cranial nerve paralysis;HP:0002170|Intracranial hemorrhage;HP:0007440|Generalized hyperpigmentation
45,x/46,xy mixed gonadal dysgenesis	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0000033|Ambiguous genitalia, male;HP:0004322|Short stature;HP:0000027|Azoospermia;HP:0000039|Epispadias;HP:0030680|Abnormality of cardiovascular system morphology;HP:0000365|Hearing impairment;HP:0002164|Nail dysplasia;HP:0010044|Short 4th metacarpal;HP:0040171|Decreased serum testosterone level;HP:0000218|High palate;HP:0000150|Gonadoblastoma;HP:0000767|Pectus excavatum;HP:0000047|Hypospadias;HP:0000347|Micrognathia;HP:0001680|Coarctation of aorta;HP:0002564|Malformation of the heart and great vessels;HP:0010464|Streak ovary;HP:0030079|Cervix cancer;HP:0000465|Webbed neck;HP:0000837|Increased circulating gonadotropin level;HP:0012741|Unilateral cryptorchidism;HP:0012887|Ovarian serous cystadenoma;HP:0000812|Abnormal internal genitalia;HP:0000062|Ambiguous genitalia;HP:0001649|Tachycardia;HP:0000808|Penoscrotal hypospadias;HP:0000048|Bifid scrotum;HP:0000045|Abnormality of the scrotum;HP:0001256|Intellectual disability, mild;HP:0000286|Epicanthus;HP:0000771|Gynecomastia;HP:0000729|Autistic behavior;HP:0001822|Hallux valgus;HP:0000077|Abnormality of the kidney;HP:0000403|Recurrent otitis media;HP:0001657|Prolonged QT interval;HP:0001647|Bicuspid aortic valve;HP:0002650|Scoliosis;HP:0008689|Bilateral cryptorchidism;HP:0000061|Ambiguous genitalia, female;HP:0012861|Ovotestis;HP:0003251|Male infertility;HP:0000823|Delayed puberty;HP:0008968|Muscle hypertrophy of the lower extremities;HP:0000085|Horseshoe kidney;HP:0006610|Wide intermamillary distance;HP:0001087|Congenital glaucoma;HP:0002162|Low posterior hairline;HP:0001513|Obesity;HP:0000505|Visual impairment;HP:0002967|Cubitus valgus;HP:0002750|Delayed skeletal maturation;HP:0002442|Dyscalculia;HP:0000041|Chordee;HP:0100779|Urogenital sinus anomaly;HP:0000368|Low-set, posteriorly rotated ears;HP:0000054|Micropenis;HP:0010743|Short metatarsal;HP:0000821|Hypothyroidism
thumbs, stiff, with brachydactyly type a1 and developmental delay	HP:0009371|Type A1 brachydactyly;HP:0001249|Mental retardation;HP:0001263|Developmental retardation
keratosis palmaris et plantaris with clinodactyly	HP:0000951|dermatopathy;HP:0004209|Clinodactyly of fifth digit
aniridia and absent patella	HP:0000501|Glaucoma;HP:0000518|Cataract;HP:0006498|Absent/underdeveloped kneecap;HP:0000526|Absent iris
ectodermal dysplasia, hidrotic, christianson-fourie type	HP:0000653|Hypotrichosis of eyelashes;HP:0007529|Hidrotic ectodermal dysplasia;HP:0002209|Scalp hair, thinning;HP:0001805|Thick nail;HP:0001662|Bradycardia;HP:0002223|Absent eyebrow;HP:0008404|Dystrophic nails;HP:0002286|Fair hair;HP:0010764|Decreased length of eyelashes;HP:0002225|Sparse pubic hair;HP:0002215|Sparse axillary and pubic hair;HP:0004763|Episodic supraventricular tachycardia
trisomy xq28	HP:0000028|Cryptorchidism;HP:0000047|Hypospadias;HP:0002916|Abnormality of chromosome segregation;HP:0010864|Intellectual disability, severe;HP:0000286|Epicanthus;HP:0001263|Global developmental delay;HP:0001288|Gait disturbance;HP:0004299|Hernia of the abdominal wall;HP:0001387|Joint stiffness;HP:0002750|Delayed skeletal maturation;HP:0004322|Short stature;HP:0002167|Neurological speech impairment;HP:0000581|Blepharophimosis;HP:0010804|Tented upper lip vermilion;HP:0011344|Severe global developmental delay;HP:0000232|Everted lower lip vermilion;HP:0000767|Pectus excavatum;HP:0000508|Ptosis
mycophenolate mofetil embryopathy	HP:0001274|Agenesis of corpus callosum;HP:0000568|Microphthalmia;HP:0001629|Ventricular septal defect;HP:0000365|Hearing impairment;HP:0002575|Tracheoesophageal fistula;HP:0000625|Cleft eyelid;HP:0000572|Visual loss;HP:0001789|Hydrops fetalis;HP:0000086|Ectopic kidney;HP:0000347|Micrognathia;HP:0001680|Coarctation of aorta;HP:0000316|Hypertelorism;HP:0004279|Short palm;HP:0001829|Foot polydactyly;HP:0009892|Anotia;HP:0002779|Tracheomalacia;HP:0002006|Facial cleft;HP:0000612|Iris coloboma;HP:0000413|Atresia of the external auditory canal;HP:0001256|Intellectual disability, mild;HP:0008437|Bifid thoracic vertebrae;HP:0011803|Bifid nose;HP:0000202|Oral cleft;HP:0001800|Hypoplastic toenails;HP:0000567|Chorioretinal coloboma;HP:0008551|Microtia;HP:0000238|Hydrocephalus;HP:0000776|Congenital diaphragmatic hernia
tetramelic monodactyly	HP:0200054|Foot monodactyly;HP:0001839|Foot ectrodactyly;HP:0004058|Hand monodactyly;HP:0001171|Hand ectrodactyly
sacrococcygeal dysgenesis association	HP:0005107|Abnormality of the sacrum;HP:0000079|Abnormality of the urinary system;HP:0003363|Abdominal situs inversus;HP:0003298|Spina bifida occulta;HP:0002475|Myelomeningocele;HP:0009800|Maternal diabetes;HP:0004374|Hemiplegia/hemiparesis;HP:0012732|Anorectal anomaly
ermine phenotype	HP:0000639|Nystagmus;HP:0001256|Intellectual disability, mild;HP:0001107|Ocular albinism;HP:0007400|Irregular hyperpigmentation;HP:0001053|Hypopigmented skin patches;HP:0004322|Short stature;HP:0000252|Microcephaly;HP:0000613|Photophobia;HP:0005599|Hypopigmentation of hair;HP:0001770|Toe syndactyly;HP:0000483|Astigmatism;HP:0007730|Iris hypopigmentation;HP:0001252|Muscular hypotonia;HP:0000407|Sensorineural hearing impairment;HP:0000366|Abnormality of the nose;HP:0004209|Clinodactyly of the 5th finger
exostoses with anetodermia and brachydactyly, type e	HP:0004334|Atrophic skin;HP:0005863|Type E brachydactyly;HP:0002762|Multiple exostoses
ectrodactyly-polydactyly	HP:0001171|Hand ectrodactyly;HP:0001839|Foot ectrodactyly;HP:0001162|Postaxial polydactyly of fingers
gonadal dysgenesis, xy type, with associated anomalies	HP:0001169|Wide palm;HP:0001769|Broad foot;HP:0000786|Primary amenorrhea;HP:0001627|Congenital heart defects;HP:0004322|Stature below 3rd percentile;HP:0001999|Facial dysmorphism;HP:0004467|Pit in front of the ear;HP:0010884|Acromelia;HP:0002000|Decreased length of columella;HP:0000204|Cleft upper lip;HP:0000202|Oral clefting;HP:0001256|Mild mental retardation;HP:0000133|Mixed gonadal dysgenesis
aural atresia, multiple congenital anomalies, and mental retardation	HP:0001629|Ventricular septal defects;HP:0000413|External auditory meatal atresia;HP:0001438|Abnormality of the abdomen;HP:0001249|Mental retardation;HP:0001762|Talipes equinovarus
marshall-smith syndrome; mrshss	HP:0007227|Macrogyria;HP:0000767|Funnel chest;HP:0004325|Low body weight;HP:0003196|Short nose;HP:0001601|Laryngomalacia;HP:0000365|Hearing impairment;HP:0000463|Nostrils anteverted;HP:0006642|Large sternal ossification centers;HP:0011800|Midface, flat;HP:0009882|Hypoplastic terminal phalanges;HP:0000592|Bluish sclerae;HP:0000453|Blockage of the rear opening of the nasal cavity;HP:0001274|Absent corpus callosum;HP:0000396|Overfolded ears;HP:0003414|Atlantoaxial subluxation;HP:0002870|Obstructive sleep apnea;HP:0000162|Retraction of the tongue;HP:0002059|Degeneration of cerebrum;HP:0040079|Irregular dentition;HP:0000369|Low-set ears;HP:0002092|Pulmonary artery hypertension;HP:0000879|Short sternum;HP:0000574|Thick eyebrow;HP:0002007|Frontal protruberance;HP:0006048|Wide outermost end of long bone;HP:0001270|Motor retardation;HP:0001249|Mental retardation;HP:0001252|Hypotonia;HP:0001631|Atria septal defect;HP:0003778|Short mandibular rami;HP:0002100|Recurrent aspiration pneumonia;HP:0000586|Shallow orbits;HP:0001643|Persistent ductus arteriosus;HP:0005280|Flat, nasal bridge;HP:0003311|Odontoid hypoplasia;HP:0001539|Omphalocele;HP:0002650|Scoliosis;HP:0005616|Early bone maturation;HP:0001508|Weight faltering;HP:0001537|Umbilical hernias;HP:0010759|Anterior position of the premaxilla;HP:0003100|Slender long bone;HP:0000322|Short philtrum;HP:0000272|Depressed malar region;HP:0000098|Increased body height;HP:0000452|Coanal stenosis;HP:0000278|Receding lower jaw;HP:0000212|Gingival overgrowth;HP:0011220|Prominent forehead;HP:0009845|Bullet-shaped middle phalanges of the hand;HP:0000664|Unibrow
1q21.1 microduplication syndrome	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0000518|Cataract;HP:0000047|Hypospadias;HP:0002007|Frontal bossing;HP:0000486|Strabismus;HP:0001762|Talipes equinovarus;HP:0000316|Hypertelorism;HP:0001636|Tetralogy of Fallot;HP:0002804|Arthrogryposis multiplex congenita;HP:0001276|Hypertonia;HP:0002020|Gastroesophageal reflux;HP:0001250|Seizures;HP:0000256|Macrocephaly;HP:0001508|Failure to thrive;HP:0007018|Attention deficit hyperactivity disorder;HP:0001249|Intellectual disability;HP:0000717|Autism;HP:0001385|Hip dysplasia;HP:0100753|Schizophrenia;HP:0002827|Hip dislocation;HP:0000738|Hallucinations;HP:0001252|Muscular hypotonia;HP:0000501|Glaucoma;HP:0000238|Hydrocephalus
myotonia with skeletal abnormalities and mental retardation	HP:0001591|Narrow, bell-shaped thorax;HP:0004322|Stature below 3rd percentile;HP:0002751|Kyphoscoliosis;HP:0000768|Pectus carinatum;HP:0006361|Irregular femoral epiphysis;HP:0008422|Wedge-shaped vertebrae;HP:0001256|Mild mental retardation;HP:0003712|Hypertrophic muscles;HP:0002857|Genu valgum;HP:0002486|Myotonia;HP:0003725|Firm muscles
hypogonadism, male, with mental retardation and skeletal anomalies	HP:0000833|Glucose intolerance;HP:0002652|Skeletal dysplasia;HP:0000815|Primary hypogonadism;HP:0003074|High blood glucose;HP:0005820|Superior rib anomalies;HP:0003319|Abnormality of the cervical spine;HP:0000026|Decreased function of male gonad;HP:0001249|Mental retardation
histiocytosis, progressive mucinous	HP:0008069|Neoplasm of the skin;HP:0040138|Histiocytosis, mucinous
neurofaciodigitorenal syndrome	HP:0000028|Cryptorchidism;HP:0001357|Plagiocephaly;HP:0009912|Abnormality of the tragus;HP:0004322|Short stature;HP:0000288|Abnormality of the philtrum;HP:0000248|Brachycephaly;HP:0000767|Pectus excavatum;HP:0000508|Ptosis;HP:0000303|Mandibular prognathia;HP:0000369|Low-set ears;HP:0000122|Unilateral renal agenesis;HP:0002564|Malformation of the heart and great vessels;HP:0000316|Hypertelorism;HP:0001511|Intrauterine growth retardation;HP:0000494|Downslanted palpebral fissures;HP:0000413|Atresia of the external auditory canal;HP:0000286|Epicanthus;HP:0001163|Abnormality of the metacarpal bones;HP:0001131|Corneal dystrophy;HP:0009896|Abnormality of the antitragus;HP:0009811|Abnormality of the elbow;HP:0001249|Intellectual disability;HP:0010650|Hypoplasia of the premaxilla;HP:0011220|Prominent forehead;HP:0000426|Prominent nasal bridge;HP:0009832|Abnormality of the distal phalanx of finger;HP:0001199|Triphalangeal thumb;HP:0001252|Muscular hypotonia;HP:0008572|External ear malformation;HP:0011830|Abnormality of oral mucosa
caudal regression sequence	HP:0002139|Arrhinencephaly;HP:0000028|Cryptorchidism;HP:0002089|Pulmonary hypoplasia;HP:0002023|Anal atresia;HP:0005640|Abnormal vertebral segmentation and fusion;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0000083|Renal insufficiency;HP:0000086|Ectopic kidney;HP:0008479|Hypoplastic vertebral bodies;HP:0002564|Malformation of the heart and great vessels;HP:0000921|Missing ribs;HP:0001762|Talipes equinovarus;HP:0000822|Hypertension;HP:0000104|Renal agenesis;HP:0000069|Abnormality of the ureter;HP:0002308|Arnold-Chiari malformation;HP:0001315|Reduced tendon reflexes;HP:0000062|Ambiguous genitalia;HP:0000076|Vesicoureteral reflux;HP:0003199|Decreased muscle mass;HP:0002607|Bowel incontinence;HP:0002650|Scoliosis;HP:0000202|Oral cleft;HP:0011867|Abnormality of the wing of the ilium;HP:0100710|Impulsivity;HP:0001387|Joint stiffness;HP:0000073|Ureteral duplication;HP:0008517|Aplasia/Hypoplasia of the sacrum;HP:0009800|Maternal diabetes
pterygium of conjunctiva and cornea	HP:0000502|Abnormality of the conjunctiva;HP:0001059|Pterygium
ichthyosis, mental retardation, dwarfism, and renal impairment	HP:0001249|Mental retardation;HP:0003259|Increased serum creatinine;HP:0000112|Nephropathy;HP:0003510|Proportionate dwarfism;HP:0012213|Reduced creatinine clearance;HP:0007479|Nonbullous congenital ichthyosis
ehlers-danlos syndrome, progeroid type	HP:0000028|Cryptorchidism;HP:0000160|Narrow mouth;HP:0001263|Global developmental delay;HP:0001650|Aortic valve stenosis;HP:0000535|Sparse eyebrow;HP:0004322|Short stature;HP:0001166|Arachnodactyly;HP:0001000|Abnormality of skin pigmentation;HP:0000974|Hyperextensible skin;HP:0000963|Thin skin;HP:0000987|Atypical scarring of skin;HP:0001371|Flexion contracture;HP:0001075|Atrophic scars;HP:0010511|Long toe;HP:0002652|Skeletal dysplasia;HP:0000506|Telecanthus;HP:0000973|Cutis laxa;HP:0005692|Joint hyperflexibility;HP:0005328|Progeroid facial appearance;HP:0009125|Lipodystrophy;HP:0001642|Pulmonic stenosis;HP:0001510|Growth delay;HP:0006481|Abnormality of primary teeth;HP:0000286|Epicanthus;HP:0002751|Kyphoscoliosis;HP:0000230|Gingivitis;HP:0000256|Macrocephaly;HP:0007469|Palmoplantar cutis gyrata;HP:0002209|Sparse scalp hair;HP:0000938|Osteopenia;HP:0001999|Abnormal facial shape;HP:0000431|Wide nasal bridge;HP:0100813|Testicular torsion;HP:0000653|Sparse eyelashes;HP:0001763|Pes planus;HP:0001252|Muscular hypotonia;HP:0003202|Skeletal muscle atrophy
testicular agenesis	HP:0000013|Hypoplasia of the uterus;HP:0008716|Urethrovaginal fistula;HP:0000837|Increased circulating gonadotropin level;HP:0000042|Absent external genitalia;HP:0100779|Urogenital sinus anomaly;HP:0040171|Decreased serum testosterone level;HP:0010469|Aplasia of the testes;HP:0000062|Ambiguous genitalia;HP:0012870|Vanishing testis;HP:0000054|Micropenis;HP:0012872|Abnormal vas deferens morphology
ovarian fibrothecoma	HP:0000137|Abnormality of the ovary;HP:0003270|Abdominal distention;HP:0006756|Diffuse leiomyomatosis;HP:0003117|Abnormality of circulating hormone level;HP:0002202|Pleural effusion;HP:0030088|Increased serum testosterone level;HP:0010618|Ovarian fibroma;HP:0100244|Fibrosarcoma;HP:0001007|Hirsutism;HP:0002027|Abdominal pain;HP:0100608|Metrorrhagia;HP:0008703|Gonadal calcification;HP:0001541|Ascites;HP:0030126|Abnormality of the endometrium;HP:0002586|Peritonitis
mental retardation, microcephaly, epilepsy, and coarse face	HP:0001250|Seizures;HP:0000252|Small head circumference;HP:0002650|Scoliosis;HP:0001007|Hirsutism;HP:0002750|Delayed bone maturation;HP:0000280|Coarse facial features;HP:0001249|Mental retardation
disproportionate short stature with ptosis and valvular heart lesions	HP:0004322|Stature below 3rd percentile;HP:0006385|Short legs;HP:0000218|Increased palatal height;HP:0004279|Hypoplastic hands;HP:0003498|Disproportionate short stature;HP:0009466|Radially deviated phalanges;HP:0000164|Abnormality of the teeth;HP:0030084|Clinodactyly;HP:0000508|Drooping upper eyelid;HP:0001642|Pulmonic stenosis;HP:0200055|Small hand
metaphyseal dysostosis, mental retardation, and conductive deafness	HP:0000486|Squint eyes;HP:0003796|Irregular iliac crest;HP:0002868|Narrow iliac wings;HP:0003026|shortened long tubular bones;HP:0100255|Metaphyseal dysplasia;HP:0002970|Genu varum;HP:0008873|Dwarfism, short-limbed;HP:0002938|Exaggerated lumbar lordosis;HP:0004279|Hypoplastic hands;HP:0003025|Frayed, irregular metaphyses;HP:0000540|Hypermetropia;HP:0001169|Wide palm;HP:0000911|Flat glenoid fossa;HP:0006606|Irregular chondrocostal junctions;HP:0003016|Wide metaphyses;HP:0000773|Rib hypoplasia;HP:0001388|Joint laxity;HP:0002650|Scoliosis;HP:0000403|Otitis media, recurrent;HP:0000887|Cupped ribs;HP:0002857|Genu valgum;HP:0001498|Hypoplastic carpal bones;HP:0001769|Broad foot;HP:0001597|Abnormality of the nail;HP:0001134|Anterior polar cataract;HP:0006009|Wide phalanges;HP:0002812|Coxa vara;HP:0001513|Obesity;HP:0000405|Conductive hearing loss;HP:0001773|Small feet;HP:0003021|Metaphyseal cupping;HP:0001256|Mild mental retardation;HP:0005899|Metaphyseal dysostosis;HP:0001156|Brachydactyly
hirschsprung disease with polydactyly, renal agenesis, and deafness	HP:0000365|Hearing impairment;HP:0000316|Increased distance between eye sockets;HP:0002251|Hirschsprung megacolon;HP:0001161|Polydactyly of the hand;HP:0000122|Unilateral kidney agenesis
aplasia cutis congenita, high myopia, and cone-rod dysfunction	HP:0007536|Aplasia cutis congenita of midline scalp vertex;HP:0011003|High myopia;HP:0006934|Congenital nystagmus
isolated optic nerve hypoplasia	HP:0000609|Optic nerve hypoplasia;HP:0002353|EEG abnormality;HP:0007710|Peripheral vitreous opacities;HP:0007957|Corneal opacity;HP:0000567|Chorioretinal coloboma;HP:0012758|Neurodevelopmental delay;HP:0008053|Aplasia/Hypoplasia of the iris;HP:0002119|Ventriculomegaly;HP:0030534|Abnormal best corrected visual acuity test;HP:0012547|Abnormal involuntary eye movements;HP:0007766|Optic disc hypoplasia;HP:0011480|Unilateral microphthalmos;HP:0000538|Pseudopapilledema;HP:0007663|Reduced visual acuity;HP:0000076|Vesicoureteral reflux;HP:0001510|Growth delay
hydrocephalus with cerebellar agenesis	HP:0000238|Nonsyndromal hydrocephalus;HP:0012642|Cerebellar agenesis
ring chromosome 4	HP:0002997|Abnormality of the ulna;HP:0006501|Aplasia/Hypoplasia of the radius;HP:0001171|Split hand;HP:0002817|Abnormality of the upper limb
trichoodontoonychial dysplasia with bone deficiency	HP:0000968|Ectodermal dysplasia;HP:0002558|accessory mamilla;HP:0000674|Anodontia;HP:0000995|Beauty mark;HP:0001006|Marked hypotrichosis;HP:0002164|Nail dysplasia;HP:0008404|Dystrophic nails;HP:0006297|Hypoplasia of tooth enamel
distal monosomy 3p	HP:0000028|Cryptorchidism;HP:0000470|Short neck;HP:0000581|Blepharophimosis;HP:0004322|Short stature;HP:0100543|Cognitive impairment;HP:0002119|Ventriculomegaly;HP:0000365|Hearing impairment;HP:0000248|Brachycephaly;HP:0000233|Thin vermilion border;HP:0000218|High palate;HP:0000508|Ptosis;HP:0001257|Spasticity;HP:0000347|Micrognathia;HP:0000506|Telecanthus;HP:0001537|Umbilical hernia;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0000960|Sacral dimple;HP:0001162|Postaxial hand polydactyly;HP:0004467|Preauricular pit;HP:0001511|Intrauterine growth retardation;HP:0002714|Downturned corners of mouth;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0007670|Abnormal vestibulo-ocular reflex;HP:0000252|Microcephaly;HP:0004209|Clinodactyly of the 5th finger;HP:0000023|Inguinal hernia;HP:0000463|Anteverted nares;HP:0000325|Triangular face;HP:0000368|Low-set, posteriorly rotated ears;HP:0006695|Atrioventricular canal defect;HP:0001252|Muscular hypotonia
thumb agenesis, short stature, and immunodeficiency	HP:0004322|Stature below 3rd percentile;HP:0009777|Absent thumbs;HP:0000458|Anosmia;HP:0000823|Pubertal delay;HP:0004430|Severe combined immunodeficiency;HP:0001574|Abnormality of the integument;HP:0004760|Congenital septal defect
polydactyly, postaxial, with dental and vertebral anomalies	HP:0000767|Funnel chest;HP:0001830|Posterior polydactyly of foot;HP:0000465|Pterygium colli;HP:0002948|Fusion of vertebral bodies;HP:0001770|Toe syndactyly;HP:0006297|Hypoplasia of tooth enamel;HP:0000286|Palpebronasal fold;HP:0004209|Clinodactyly of fifth digit;HP:0008368|Tarsal fusions;HP:0000369|Low-set ears;HP:0008577|Underfolded helix;HP:0011088|Dens invaginatus;HP:0001162|Postaxial polydactyly of fingers;HP:0005819|Short middle phalanges;HP:0002751|Kyphoscoliosis;HP:0008479|Small vertebrae;HP:0001156|Brachydactyly;HP:0000668|Failure of development of between one and six teeth;HP:0000774|Low chest circumference;HP:0001572|Macrodontia;HP:0003416|Spinal canal stenosis;HP:0002162|Low posterior hair line;HP:0000303|Increased size of lower jaw;HP:0006045|Short pointed digital bones;HP:0002937|Hemivertebra;HP:0004691|partial or complete syndactyly 2nd-3rd toes;HP:0000193|Uvula bifida;HP:0000768|Pectus carinatum;HP:0001837|Broad toe
cutaneous mastocytosis, conductive hearing loss and microtia	HP:0001252|Hypotonia;HP:0011971|Dermatographism;HP:0004322|Stature below 3rd percentile;HP:0000252|Small head circumference;HP:0001939|Laboratory abnormality;HP:0000405|Conductive hearing loss;HP:0200151|Cutaneous mastocytosis;HP:0002650|Scoliosis;HP:0000218|Increased palatal height;HP:0011968|Feeding difficulties;HP:0000347|Hypoplasia of mandible;HP:0000582|Upward slanting of palpebral fissures;HP:0001000|Pigmentary changes;HP:0000431|Broad nasal root;HP:0008551|Hypoplasia of the external ear;HP:0001249|Mental retardation;HP:0000430|Nasal cartilage hypoplasia
marfanoid mental retardation syndrome, autosomal	HP:0001252|Hypotonia;HP:0003758|Reduced subcutaneous fat;HP:0000272|Depressed malar region;HP:0001263|Developmental retardation;HP:0000098|Increased body height;HP:0001166|Long, slender fingers;HP:0001249|Mental retardation
psychogenic movement disorders	HP:0100022|Abnormality of movement;HP:0002167|Neurological speech impairment;HP:0001288|Gait disturbance
trichodysplasia-xeroderma	HP:0000653|Hypotrichosis of eyelashes;HP:0002552|Trichodysplasia;HP:0002208|Coarse hair texture;HP:0001596|Hair loss;HP:0003777|Pili torti;HP:0002209|Scalp hair, thinning;HP:0000958|Xerosis;HP:0009886|Trichorrhexis nodosa;HP:0001006|Marked hypotrichosis;HP:0000535|Thin, sparse eyebrows;HP:0002299|Brittle hair;HP:0002225|Sparse pubic hair;HP:0002215|Sparse axillary and pubic hair;HP:0011359|Dry hair;HP:0002217|Slow growing hair
hemihyperplasia-multiple lipomatosis syndrome	HP:0000034|Hydrocele testis;HP:0001829|Foot polydactyly;HP:0001012|Multiple lipomas;HP:0010714|2-4 toe syndactyly;HP:0000105|Enlarged kidney;HP:0001051|Seborrheic dermatitis;HP:0100659|Abnormality of the cerebral vasculature;HP:0002667|Nephroblastoma;HP:0002650|Scoliosis;HP:0040009|Hyperparakeratosis;HP:0100585|Telangiectasia of the skin;HP:0012887|Ovarian serous cystadenoma;HP:0100763|Abnormality of the lymphatic system;HP:0002624|Venous abnormality;HP:0004099|Macrodactyly;HP:0008551|Microtia;HP:0001548|Overgrowth;HP:0100578|Lipoatrophy;HP:0003764|Nevus
bone dysplasia, lethal, holmgren type	HP:0001591|Narrow, bell-shaped thorax;HP:0004322|Stature below 3rd percentile;HP:0002652|Skeletal dysplasia;HP:0000773|Rib hypoplasia;HP:0000774|Low chest circumference;HP:0002093|progressive respiratory failure
blepharophimosis with ptosis, syndactyly, and short stature	HP:0000303|Increased size of lower jaw;HP:0000508|Drooping upper eyelid;HP:0004322|Stature below 3rd percentile;HP:0007715|Weak extraocular muscles;HP:0010554|Cutaneous syndactyly of hands;HP:0001760|Foot deformities;HP:0000581|Blepharophimosis;HP:0000458|Anosmia;HP:0006889|Intellectual disability, borderline;HP:0004661|Frontalis muscle weakness;HP:0000574|Thick eyebrow;HP:0000565|Inward turning of one or both eyes;HP:0000431|Broad nasal root;HP:0000179|Plump lower lip;HP:0000664|Unibrow
muscular dystrophy, congenital, producing arthrogryposis	HP:0001939|Laboratory abnormality;HP:0003741|Muscular dystrophy, congenital;HP:0003198|Myopathic changes;HP:0002804|Arthrogryposis multiplex congenita
hypospadias-mental retardation syndrome	HP:0001597|Abnormality of the nail;HP:0000047|Hypospadias;HP:0001999|Facial dysmorphism;HP:0000252|Small head circumference;HP:0001388|Joint laxity;HP:0000243|Triangular cranium shape;HP:0001249|Mental retardation
isolated agammaglobulinemia	HP:0012378|Fatigue;HP:0004322|Short stature;HP:0000246|Sinusitis;HP:0004332|Abnormality of lymphocytes;HP:0002960|Autoimmunity;HP:0001287|Meningitis;HP:0100806|Sepsis;HP:0002205|Recurrent respiratory infections;HP:0001873|Thrombocytopenia;HP:0100533|Inflammatory abnormality of the eye;HP:0002014|Diarrhea;HP:0001874|Abnormality of neutrophils;HP:0200042|Skin ulcer;HP:0001903|Anemia;HP:0002024|Malabsorption;HP:0001864|Clinodactyly of the 5th toe;HP:0000388|Otitis media;HP:0100838|Recurrent cutaneous abscess formation;HP:0001999|Abnormal facial shape;HP:0001945|Fever;HP:0001508|Failure to thrive;HP:0100763|Abnormality of the lymphatic system;HP:0000988|Skin rash;HP:0100658|Cellulitis;HP:0002721|Immunodeficiency;HP:0001369|Arthritis;HP:0100765|Abnormality of the tonsils;HP:0002090|Pneumonia
brachydactyly-syndactyly, zhao type	HP:0009577|Short middle phalanx of the 2nd finger;HP:0001822|Hallux valgus;HP:0009773|Symphalangism affecting the phalanges of the hand;HP:0004704|Short fifth metatarsal;HP:0001770|Toe syndactyly;HP:0010047|Short 5th metacarpal;HP:0004220|Short middle phalanx of the 5th finger
deafness, conductive, with malformed external ear	HP:0000405|Conductive hearing loss;HP:0000369|Low-set ears;HP:0000377|Malformation of auricle;HP:0004452|Abnormality of the middle ear ossicles;HP:0001249|Mental retardation;HP:0000135|Hypogonadism
isolated micropenis	HP:0000062|Ambiguous genitalia;HP:0000047|Hypospadias;HP:0000054|Micropenis
dyschondrosteosis and nephritis	HP:0002986|Bowed radii;HP:0000123|Nephritis;HP:0003067|Madelung wrist deformity;HP:0005773|Short forearm;HP:0005736|Short tibia;HP:0008845|Mesomelic dwarfism;HP:0003031|Ulnar bowing
hydrocephalus, sprengel anomaly, and costovertebral dysplasia	HP:0000463|Nostrils anteverted;HP:0002194|Delayed motor skills;HP:0000316|Increased distance between eye sockets;HP:0006297|Hypoplasia of tooth enamel;HP:0000286|Palpebronasal fold;HP:0100702|Arachnoid cyst;HP:0002500|Leukoaraiosis;HP:0000369|Low-set ears;HP:0001249|Mental retardation;HP:0002751|Kyphoscoliosis;HP:0001263|Developmental retardation;HP:0000912|High scapula;HP:0000218|Increased palatal height;HP:0005280|Flat, nasal bridge;HP:0001852|Wide space between first and second toes;HP:0000709|Psychosis;HP:0000431|Broad nasal root;HP:0000303|Increased size of lower jaw;HP:0000272|Depressed malar region;HP:0000348|High forehead;HP:0000238|Nonsyndromal hydrocephalus;HP:0000414|Bulbous nose;HP:0001156|Brachydactyly
slc35a1-cdg	HP:0001892|Abnormal bleeding;HP:0012418|Hypoxemia;HP:0001902|Giant platelets;HP:0011883|Abnormal platelet granules;HP:0001873|Thrombocytopenia;HP:0100658|Cellulitis;HP:0003010|Prolonged bleeding time;HP:0040223|Intrapulmonary hemorrhage;HP:0002090|Pneumonia;HP:0001875|Neutropenia;HP:0002098|Respiratory distress;HP:0001933|Subcutaneous hemorrhage;HP:0012143|Abnormality of cells of the megakaryocyte lineage
craniosynostosis with fibular aplasia	HP:0001363|Early fusion of cranial sutures;HP:0002990|Absent calf bone
tapetoretinal degeneration with ataxia	HP:0001251|Ataxia;HP:0000547|Tapetoretinal degeneration
faciocardiorenal syndrome	HP:0001357|Plagiocephaly;HP:0000160|Narrow mouth;HP:0000411|Protruding ear;HP:0000175|Cleft palate;HP:0001704|Tricuspid valve prolapse;HP:0000316|Hypertelorism;HP:0000319|Smooth philtrum;HP:0000668|Hypodontia;HP:0001249|Intellectual disability;HP:0001508|Failure to thrive;HP:0000431|Wide nasal bridge;HP:0001706|Endocardial fibroelastosis;HP:0000085|Horseshoe kidney;HP:0000430|Underdeveloped nasal alae
deafness, congenital, with vitiligo and achalasia	HP:0000365|Hearing impairment;HP:0002571|Achalasia;HP:0004322|Stature below 3rd percentile;HP:0003202|Neurogenic muscle atrophy, especially in the lower limbs;HP:0001045|Blotchy loss of skin color
ophthalmoplegia, progressive, with scrotal tongue and mental deficiency	HP:0007650|Progressive ophthalmoplegia;HP:0001249|Mental retardation;HP:0000221|Scrotal tongue
growth retardation, small and puffy hands and feet, and eczema	HP:0001252|Hypotonia;HP:0000750|Late-onset speech development;HP:0001263|Developmental retardation;HP:0000691|Decreased width of tooth;HP:0008897|Growth retardation as children;HP:0000687|Widely spaced teeth;HP:0000964|Eczema;HP:0001338|Partial agenesis of the corpus callosum;HP:0001511|Prenatal onset growth retardation
idiopathic acute eosinophilic pneumonia	HP:0003326|Myalgia;HP:0002093|Respiratory insufficiency;HP:0100749|Chest pain;HP:0002027|Abdominal pain;HP:0002113|Pulmonary infiltrates;HP:0001945|Fever;HP:0002111|Restrictive deficit on pulmonary function testing;HP:0002793|Abnormal pattern of respiration;HP:0012735|Cough;HP:0001879|Abnormality of eosinophils;HP:0002103|Abnormality of the pleura
leg, absence deformity of, with congenital cataract	HP:0000519|Cataracts, lenticular, bilateral;HP:0002650|Scoliosis
choroid plexus calcification and mental retardation	HP:0001250|Seizures;HP:0000486|Squint eyes;HP:0006801|Brisk deep tendon reflexes;HP:0001939|Laboratory abnormality;HP:0010864|Early and severe mental retardation;HP:0006960|Choroid plexus calcification;HP:0002922|Increased CSF protein;HP:0003487|Extensor plantar reflexes;HP:0001608|Voice abnormality;HP:0006887|Progressive mental retardation
dermatoleukodystrophy	HP:0000962|Hyperkeratosis;HP:0001176|large hand;HP:0000448|Big nose;HP:0100678|Premature skin wrinkling;HP:0001072|Pachydermia;HP:0005328|Aged facial appearance;HP:0002415|Degeneration of white matter of brain;HP:0001833|large feet;HP:0000400|Large ears;HP:0001939|Laboratory abnormality;HP:0001347|Hyperreflexia;HP:0001072|Thickened skin;HP:0012639|Abnormality of nervous system morphology;HP:0001315|Reduced tendon reflexes;HP:0001249|Mental retardation;HP:0001249|Intellectual disability
multiple epiphyseal dysplasia, al-gazali type	HP:0001274|Agenesis of corpus callosum;HP:0000470|Short neck;HP:0012444|Brain atrophy;HP:0006101|Finger syndactyly;HP:0001513|Obesity;HP:0000256|Macrocephaly;HP:0002007|Frontal bossing;HP:0000369|Low-set ears;HP:0000316|Hypertelorism;HP:0002758|Osteoarthritis;HP:0005930|Abnormality of epiphysis morphology;HP:0000272|Malar flattening;HP:0001373|Joint dislocation;HP:0002857|Genu valgum;HP:0030084|Clinodactyly;HP:0000767|Pectus excavatum
pseudohermaphroditism, female, with skeletal anomalies	HP:0005856|Ulnar radial head dislocation;HP:0000786|Primary amenorrhea;HP:0000327|Maxillary micrognathia;HP:0008665|Clitoromegaly;HP:0000062|Ambiguous external genitalia;HP:0005790|Decreased height of condylar process of mandible
deafness, conductive stapedial, with ear malformation and facial palsy	HP:0007209|Facial paresis;HP:0008628|Abnormality of the stapes;HP:0010628|Facial palsy, unilateral or bilateral;HP:0000405|Conductive hearing loss;HP:0008572|External ear malformation
basilar impression, primary	HP:0005758|Basilar impression;HP:0002751|Kyphoscoliosis;HP:0002691|Increased basal angle of skull base;HP:0003396|Syringomyelia;HP:0002277|Horner's syndrome;HP:0003690|Limb weakness;HP:0005788|Abnormal cervical myelogram;HP:0004484|Uneven craniofacial structures;HP:0000470|Decreased cervical height
hand and foot deformity with flat facies	HP:0004322|Stature below 3rd percentile;HP:0000272|Depressed malar region;HP:0001760|Foot deformities;HP:0012368|Flat face;HP:0009626|Contractures of the interphalangeal joint of the thumb;HP:0001319|Hypotonia, in neonatal onset;HP:0001249|Mental retardation;HP:0006070|Metacarpophalangeal joint contracture
brachydactyly-nystagmus-cerebellar ataxia	HP:0000639|Nystagmus;HP:0010049|Metacarpal hypoplasia;HP:0000486|Squint eyes;HP:0001249|Mental retardation;HP:0001251|Ataxia;HP:0010743|Shortened metatarsals;HP:0001156|Brachydactyly
spondylometaphyseal dysplasia, type a4	HP:0005041|Irregular capital femoral epiphysis;HP:0003300|Oval vertebral bodies;HP:0000920|Enlarged costochondral junctions;HP:0008873|Dwarfism, short-limbed;HP:0006369|Irregular patellae;HP:0003375|Narrow sacrosciatic notch;HP:0003025|Frayed, irregular metaphyses;HP:0008076|Osteoporotic tarsals;HP:0100865|Broad ischia;HP:0003510|Proportionate dwarfism;HP:0004699|Osteoporotic metatarsal;HP:0003918|Sclerotic humeral metaphysis;HP:0006623|Sclerotic costochondral joints;HP:0002657|Spondylometaphyseal dysplasia;HP:0003016|Wide metaphyses;HP:0003180|Flat acetabular roof;HP:0000268|Dolichocephaly;HP:0000926|Flattened vertebral bodies;HP:0004979|Metaphyseal sclerosis;HP:0003090|Hypoplasia of the capital femoral epiphysis;HP:0000768|Pectus carinatum;HP:0001156|Brachydactyly;HP:0002673|Coxa valga
congenital pseudoarthrosis of clavicle	HP:0000924|Abnormality of the skeletal system;HP:0001651|Dextrocardia;HP:0000891|Cervical ribs;HP:0002758|Osteoarthritis;HP:0001696|Situs inversus totalis;HP:0006585|Congenital pseudoarthrosis of the clavicle
limb defects, distal transverse, with mental retardation and spasticity	HP:0001171|Hand ectrodactyly;HP:0001258|Spastic paraplegia, lower limb;HP:0001249|Mental retardation
familial bicuspid aortic valve	HP:0001650|Aortic valve stenosis;HP:0005113|Dilatation of the aortic arch;HP:0001680|Coarctation of aorta;HP:0001647|Bicuspid aortic valve;HP:0000822|Hypertension;HP:0011103|Abnormality of the left ventricular outflow tract;HP:0001659|Aortic regurgitation;HP:0030148|Heart murmur;HP:0004383|Hypoplastic left heart;HP:0004933|Ascending aortic dissection;HP:0004380|Aortic valve calcification;HP:0004962|Thoracic aorta calcification
bencze syndrome	HP:0000486|Squint eyes;HP:0000324|Facial asymmetry;HP:0000582|Upslanted palpebral fissure;HP:0000646|Wandering eyes;HP:0005323|Facial hemihypertophy;HP:0000506|Telecanthus;HP:0000646|Amblyopia;HP:0010807|Open bite;HP:0000486|Strabismus;HP:0005325|Extension of hair growth on temples to lateral eyebrow;HP:0000176|Submucous cleft hard palate
nodular neuronal heterotopia	HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0002269|Abnormality of neuronal migration
atrial tachyarrhythmia with short pr interval	HP:0006671|Paroxysmal atrial tachycardia;HP:0004757|Paroxysmal atrial fibrillation;HP:0005165|Shortened PR interval on EKG;HP:0004754|Permanent atrial fibrillation
hypotrichosis and recurrent skin vesicles	HP:0002209|Scalp hair, thinning;HP:0001006|Marked hypotrichosis;HP:0002215|Sparse axillary and pubic hair;HP:0200037|Skin vesicle;HP:0100840|Agenesis of eyebrow;HP:0200102|Sparse or absent eyelashes
hairy palms and soles	HP:0001034|Hyperpigmented spots
griscelli disease	HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0002216|Premature graying of hair;HP:0004322|Short stature;HP:0001257|Spasticity;HP:0002716|Lymphadenopathy;HP:0001251|Ataxia;HP:0001873|Thrombocytopenia;HP:0002218|Silver-gray hair;HP:0001882|Leukopenia;HP:0005528|Bone marrow hypocellularity;HP:0001053|Hypopigmented skin patches;HP:0003119|Abnormality of lipid metabolism;HP:0001874|Abnormality of neutrophils;HP:0004313|Decreased antibody level in blood;HP:0007730|Iris hypopigmentation;HP:0001315|Reduced tendon reflexes;HP:0000952|Jaundice;HP:0001541|Ascites;HP:0001250|Seizures;HP:0010741|Edema of the lower limbs;HP:0100022|Abnormality of movement;HP:0001945|Fever;HP:0002240|Hepatomegaly;HP:0002021|Pyloric stenosis;HP:0001249|Intellectual disability;HP:0001744|Splenomegaly;HP:0002721|Immunodeficiency;HP:0011364|White hair;HP:0000499|Abnormality of the eyelashes;HP:0002084|Encephalocele;HP:0006824|Cranial nerve paralysis;HP:0012115|Hepatitis;HP:0001252|Muscular hypotonia;HP:0000238|Hydrocephalus;HP:0000534|Abnormality of the eyebrow
autosomal recessive frontotemporal pachygyria	HP:0001263|Global developmental delay;HP:0001250|Seizures;HP:0002342|Intellectual disability, moderate;HP:0000506|Telecanthus;HP:0000020|Urinary incontinence;HP:0001302|Cerebral pachygyria;HP:0001315|Reduced tendon reflexes;HP:0000316|Hypertelorism;HP:0000316|Increased distance between eye sockets;HP:0000565|Inward turning of one or both eyes;HP:0001252|Muscular hypotonia;HP:0002069|Generalized tonic-clonic seizures;HP:0000565|Esotropia;HP:0001302|Pachygyria;HP:0000750|Delayed speech and language development
tracheoesophageal fistula with or without esophageal atresia	HP:0002575|Tracheoesophageal fistula;HP:0002032|Esophageal atresia
keipert syndrome	HP:0100543|Cognitive impairment;HP:0004322|Short stature;HP:0005280|Depressed nasal bridge;HP:0000508|Ptosis;HP:0000337|Broad forehead;HP:0010109|Short hallux;HP:0002564|Malformation of the heart and great vessels;HP:0000316|Hypertelorism;HP:0010804|Tented upper lip vermilion;HP:0010185|Aplasia/Hypoplasia of the distal phalanges of the toes;HP:0000407|Sensorineural hearing impairment;HP:0001609|Hoarse voice;HP:0000708|Behavioral abnormality;HP:0000286|Epicanthus;HP:0000256|Macrocephaly;HP:0000327|Hypoplasia of the maxilla;HP:0002263|Exaggerated cupid's bow;HP:0004209|Clinodactyly of the 5th finger;HP:0010059|Broad hallux phalanx;HP:0009836|Broad distal phalanx of finger;HP:0000426|Prominent nasal bridge;HP:0010624|Aplastic/hypoplastic toenail;HP:0011304|Broad thumb;HP:0009882|Short distal phalanx of finger
dermochondrocorneal dystrophy	HP:0000924|Abnormality of the skeletal system;HP:0001155|Abnormality of the hand;HP:0001155|Hand anomalies;HP:0008039|Subepithelial corneal opacities;HP:0001131|Corneal dystrophy;HP:0001176|Large hands;HP:0007795|Anterior cortical cataract;HP:0001760|Abnormality of the foot;HP:0200036|Skin nodule;HP:0000212|Gingival overgrowth;HP:0000991|Xanthomatosis;HP:0008134|Irregular tarsal centers;HP:0007663|Reduced visual acuity
maxillofacial dysostosis	HP:0000750|Late-onset speech development;HP:0000377|Malformation of auricle;HP:0000303|Increased size of lower jaw;HP:0000494|Downward slanting palpebral fissures
craniofacial dyssynostosis	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0000470|Short neck;HP:0002079|Hypoplasia of the corpus callosum;HP:0000402|Stenosis of the external auditory canal;HP:0004322|Short stature;HP:0011800|Midface, flat;HP:0001290|Generalized hypotonia;HP:0001274|Absent corpus callosum;HP:0000565|Inward turning of one or both eyes;HP:0001629|Ventricular septal defects;HP:0007099|Arnold Chiari type I malformation;HP:0000047|Hypospadias;HP:0004322|Stature below 3rd percentile;HP:0000347|Micrognathia;HP:0002007|Frontal bossing;HP:0001537|Umbilical hernia;HP:0000369|Low-set ears;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0000960|Sacral dimple;HP:0001643|Patent ductus arteriosus;HP:0002007|Frontal protruberance;HP:0011344|Severe global developmental delay;HP:0000194|Open mouth;HP:0001249|Mental retardation;HP:0000494|Downslanted palpebral fissures;HP:0001052|Nevus flammeus;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000324|Facial asymmetry;HP:0011217|Abnormal shape of posterior cranium;HP:0000256|Macrocephaly;HP:0000163|Abnormality of the oral cavity;HP:0001643|Persistent ductus arteriosus;HP:0000244|Brachyturricephaly;HP:0004209|Clinodactyly of the 5th finger;HP:0002021|Pyloric stenosis;HP:0000268|Dolichocephaly;HP:0000431|Wide nasal bridge;HP:0000085|Horseshoe kidney;HP:0000322|Short philtrum;HP:0000272|Depressed malar region;HP:0001363|Craniosynostosis;HP:0000341|Narrow bitemporal diameter;HP:0000238|Nonsyndromal hydrocephalus;HP:0000357|Abnormal location of ears;HP:0009891|Underdeveloped supraorbital ridges;HP:0000238|Hydrocephalus;HP:0002119|Ventricular dilatation;HP:0000430|Underdeveloped nasal alae
rhyns syndrome	HP:0000946|Hypoplastic ilia;HP:0000490|Sunken eyes;HP:0000365|Hearing impairment;HP:0000824|Growth hormone deficiency;HP:0000508|Ptosis;HP:0000083|Renal insufficiency;HP:0003170|Abnormality of the acetabulum;HP:0000490|Deeply set eye;HP:0002652|Skeletal dysplasia;HP:0010585|Small epiphyses;HP:0040075|Hypopituitarism;HP:0000002|Abnormality of body height;HP:0006897|Cranial nerve VI palsy;HP:0000924|Abnormality of the skeletal system;HP:0000003|Multicystic kidney dysplasia;HP:0000510|Rod-cone dystrophy;HP:0000938|Osteopenia;HP:0001392|Abnormality of the liver;HP:0008245|Thyroid stimulating hormone deficiency;HP:0011314|Abnormality of long bone morphology;HP:0000090|juvenile nephronophthisis;HP:0000405|Conductive hearing loss;HP:0000090|Nephronophthisis;HP:0000510|Retinitis pigmentosa;HP:0002750|Delayed skeletal maturation;HP:0006824|Cranial nerve paralysis;HP:0000508|Drooping upper eyelid
keratoderma, palmoplantar, norrbotten recessive type	HP:0000982|Palmoplantar keratoderma
craniosynostosis-mental retardation syndrome of lin and gettig	HP:0000028|Cryptorchidism;HP:0000767|Funnel chest;HP:0000486|Squint eyes;HP:0002558|accessory mamilla;HP:0000033|Ambiguous genitalia, male;HP:0000581|Blepharophimosis;HP:0003196|Short nose;HP:0000402|Stenosis of the external auditory canal;HP:0000347|Hypoplasia of mandible;HP:0000233|Decreased volume of lip vermillion;HP:0011800|Midface, flat;HP:0000316|Increased distance between eye sockets;HP:0006184|Hypoplastic palmar creases;HP:0001363|Early fusion of cranial sutures;HP:0001274|Absent corpus callosum;HP:0001238|Slender fingers;HP:0000343|Vertical hyperplasia of philtrum;HP:0001629|Ventricular septal defects;HP:0007099|Arnold Chiari type I malformation;HP:0000047|Hypospadias;HP:0000286|Palpebronasal fold;HP:0000369|Low-set ears;HP:0000126|Hydronephrosis;HP:0002000|Decreased length of columella;HP:0010864|Early and severe mental retardation;HP:0002828|Multiple joint contractures;HP:0000175|Palatoschisis;HP:0006887|Progressive mental retardation;HP:0001276|Hypertonia;HP:0008872|Feeding difficulties in infancy;HP:0000054|Short penis;HP:0009473|Joint contracture of the hand;HP:0000319|Smooth philtrum;HP:0000774|Low chest circumference;HP:0000582|Upward slanting of palpebral fissures;HP:0000262|Tall shaped skull;HP:0001539|Omphalocele;HP:0001076|Glabellar capillary hemangioma;HP:0001537|Umbilical hernias;HP:0000268|Dolichocephaly;HP:0000023|Inguinal hernia;HP:0006610|Wide intermamillary distance;HP:0012385|Camptodactyly;HP:0000272|Depressed malar region;HP:0002566|Intestinal malrotation;HP:0000407|sensorineural hearing loss;HP:0000243|Triangular cranium shape;HP:0000494|Downward slanting palpebral fissures;HP:0005326|Small philtrum;HP:0000076|Vesicoureteric reflux;HP:0000508|Drooping upper eyelid;HP:0000768|Pectus carinatum;HP:0008551|Hypoplasia of the external ear;HP:0000601|Closely spaced eyes;HP:0004797|Multiple small bowel atresias
mucopolysaccharidosis type 3	HP:0010864|Intellectual disability, severe;HP:0000518|Cataract;HP:0000545|Myopia;HP:0000365|Hearing impairment;HP:0002376|Developmental regression;HP:0001251|Ataxia;HP:0001537|Umbilical hernia;HP:0000772|Abnormality of the ribs;HP:0002208|Coarse hair;HP:0001276|Hypertonia;HP:0002024|Malabsorption;HP:0000889|Abnormality of the clavicle;HP:0001250|Seizures;HP:0003312|Abnormal form of the vertebral bodies;HP:0007957|Corneal opacity;HP:0002650|Scoliosis;HP:0000389|Chronic otitis media;HP:0004493|Craniofacial hyperostosis;HP:0002230|Generalized hirsutism;HP:0002240|Hepatomegaly;HP:0002857|Genu valgum;HP:0000023|Inguinal hernia;HP:0002360|Sleep disturbance;HP:0001744|Splenomegaly;HP:0001385|Hip dysplasia;HP:0001387|Joint stiffness;HP:0001604|Vocal cord paresis;HP:0008155|Mucopolysacchariduria;HP:0006887|Intellectual disability, progressive
midphalangeal hair	HP:0001595|Hair abnormality
taurodontism, microdontia, and dens invaginatus	HP:0000691|Decreased width of tooth;HP:0003771|Pulp calcifications;HP:0000679|Taurodont
adenohypophysitis	HP:0008202|Prolactin deficiency;HP:0011748|Adrenocorticotropic hormone deficiency;HP:0001278|Orthostatic hypotension;HP:0007987|Progressive visual field defects;HP:0040306|Decreased male libido;HP:0000622|Blurred vision;HP:0008163|Decreased circulating cortisol level;HP:0002018|Nausea;HP:0002902|Hyponatremia;HP:0000872|Hashimoto thyroiditis;HP:0000871|Panhypopituitarism;HP:0001895|Normochromic anemia;HP:0000407|Sensorineural hearing impairment;HP:0003158|Hyposthenuria;HP:0012504|Abnormal size of pituitary gland;HP:0003493|Antinuclear antibody positivity;HP:0008230|Decreased testosterone in males;HP:0011735|Adrenocorticotropin deficient adrenal insufficiency;HP:0000651|Diplopia;HP:0000802|Impotence;HP:0004396|Poor appetite;HP:0000141|Amenorrhea;HP:0000870|Prolactin excess;HP:0030018|Decreased female libido;HP:0012696|Abnormal thalamic MRI signal intensity;HP:0008213|Gonadotropin deficiency;HP:0008214|Decreased serum estradiol;HP:0007041|Chronic lymphocytic meningitis;HP:0000980|Pallor;HP:0002315|Headache;HP:0008240|Secondary growth hormone deficiency;HP:0008245|Pituitary hypothyroidism
absence of tibia with polydactyly	HP:0009556|Absent tibia;HP:0001627|Congenital heart defects
catatrichy	HP:0001595|Hair abnormality
dystelephalangy	HP:0004226|Curved outermost pinky finger bone
transgrediens et progrediens palmoplantar keratoderma	HP:0010783|Erythema;HP:0000975|Hyperhidrosis;HP:0012742|Thin fingernail;HP:0005595|Generalized hyperkeratosis;HP:0001596|Alopecia;HP:0000958|Dry skin;HP:0001387|Joint stiffness;HP:0001131|Corneal dystrophy;HP:0000982|Palmoplantar keratoderma
congenital velopharyngeal incompetence	HP:0000220|Velopharyngeal insufficiency;HP:0000365|Hearing impairment;HP:0001608|Abnormality of the voice;HP:0000174|Abnormality of the palate;HP:0000600|Abnormality of the pharynx
spondylospinal thoracic dysostosis	HP:0000327|Maxillary micrognathia;HP:0002089|Hypoplastic lungs;HP:0000347|Hypoplasia of mandible;HP:0001040|Multiple pterygia;HP:0002804|Arthrogryposis multiplex congenita;HP:0010306|Short thorax
oculocerebral syndrome with hypopigmentation	HP:0001257|Spasticity;HP:0001305|Dandy-Walker cyst;HP:0002218|Silver-gray hair color;HP:0001510|Growth deficiency;HP:0000478|Abnormal eye;HP:0001010|Hypopigmentation of the skin;HP:0001249|Mental retardation;HP:0002305|Involuntary writhing movements
microtia-anotia	HP:0008551|Hypoplasia of the external ear;HP:0009892|Anotia;HP:0001360|Single brain ventricle
familial dermographism	HP:0011971|Dermatographism
hooft disease	HP:0001939|Laboratory abnormality;HP:0001249|Mental retardation;HP:0000547|Tapetoretinal degeneration;HP:0001507|Abnormal growth;HP:0001820|Leukonychia
tiglic acidemia	HP:0003355|Aminoaciduria;HP:0001946|High levels of ketone bodies;HP:0001941|acidemia;HP:0002574|Episodic abdominal pain
otosclerosis 4	HP:0000362|Otosclerosis;HP:0000410|Hearing loss, mixed
7q11.23 duplication syndrome	HP:0000750|Late-onset speech development;HP:0000736|Short attention span;HP:0001249|Mental retardation
megalocornea mental retardation syndrome	HP:0000938|Decreased bone mineral density;HP:0002265|Large fleshy ears;HP:0000311|Round facial shape;HP:0000347|Hypoplasia of mandible;HP:0000256|Macrocrania;HP:0001166|Long, slender fingers;HP:0000316|Increased distance between eye sockets;HP:0000343|Vertical hyperplasia of philtrum;HP:0007676|Hypoplasia of the iris;HP:0002370|Poor coordination;HP:0000286|Palpebronasal fold;HP:0004322|Stature below 3rd percentile;HP:0001251|Ataxia;HP:0100693|Iridodonesis;HP:0002007|Frontal protruberance;HP:0002188|Delayed CNS myelination;HP:0001249|Mental retardation;HP:0002816|Back knee;HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0000252|Small head circumference;HP:0000545|Near sightedness;HP:0000218|Increased palatal height;HP:0005280|Flat, nasal bridge;HP:0000294|Low frontal hairline;HP:0000485|Enlarged cornea;HP:0000431|Broad nasal root;HP:0002015|Swallowing difficulty;HP:0002857|Genu valgum;HP:0001763|Pes planus;HP:0000193|Uvula bifida;HP:0000494|Downward slanting palpebral fissures;HP:0003124|Elevated serum cholesterol;HP:0000378|Cupped ear;HP:0000832|Primary hypothyroidism
paralysis agitans, juvenile, of hunt	HP:0002067|Bradykinesia;HP:0001288|Gait disturbance;HP:0000298|Lack of facial expression;HP:0002063|Muscle rigidity;HP:0001939|Laboratory abnormality;HP:0001337|Tremor;HP:0001300|Parkinsonism;HP:0001260|Dysarthric speech
inflammatory bowel disease 11	HP:0002027|Abdominal pain;HP:0001824|Weight loss;HP:0002037|Inflammation of the large intestine;HP:0002573|Bloody diarrhea
patterson-stevenson-fontaine syndrome	HP:0000272|Depressed malar region;HP:0001171|Hand ectrodactyly;HP:0000598|Ear anomaly;HP:0005321|Mandibulofacial dysostosis;HP:0000347|Hypoplasia of mandible;HP:0001770|Toe syndactyly;HP:0001839|Foot ectrodactyly;HP:0000175|Palatoschisis
bowen syndrome	HP:0000047|Hypospadias;HP:0001627|Congenital heart defects;HP:0001087|Childhood glaucoma;HP:0000347|Hypoplasia of mandible;HP:0000598|Ear anomaly;HP:0001508|Weight faltering;HP:0001274|Absent corpus callosum;HP:0008872|Feeding difficulties in infancy
fetal hemoglobin quantitative trait locus 3	HP:0001871|Abnormality of blood and blood-forming tissues
dwarfism tall vertebrae	HP:0004570|Increased vertebral height;HP:0002812|Coxa vara;HP:0003510|Proportionate dwarfism
spinocerebellar ataxia 18	HP:0000639|Nystagmus;HP:0001310|Dysmetria;HP:0003390|Sensory axonal neuropathy;HP:0001265|Decreased tendon reflexes;HP:0002075|Dysdiadochokinesis;HP:0003202|Neurogenic muscle atrophy, especially in the lower limbs;HP:0001337|Tremor;HP:0001272|Cerebellar atrophy;HP:0001284|Areflexia;HP:0007240|Gait ataxia, progressive;HP:0003487|Extensor plantar reflexes;HP:0003690|Limb weakness;HP:0001761|Pes cavus
chromosome 8q22.1 duplication syndrome	HP:0010049|Metacarpal hypoplasia;HP:0000581|Blepharophimosis;HP:0001387|Stiff joints;HP:0004322|Stature below 3rd percentile;HP:0006247|Enlarged interphalangeal joints;HP:0001191|Carpal bone anomalies;HP:0004279|Hypoplastic hands;HP:0002816|Back knee;HP:0001602|Laryngeal stenosis;HP:0000925|Abnormality of the vertebral column;HP:0001822|Hallux valgus;HP:0000582|Upward slanting of palpebral fissures;HP:0001761|Pes cavus;HP:0011304|Wide/broad thumb;HP:0009803|Hypoplastic/small phalanges of the hand;HP:0010743|Shortened metatarsals;HP:0001230|Broad metacarpals;HP:0002967|Cubitus valgus;HP:0009778|Small thumbs;HP:0007311|Short stepped shuffling gait;HP:0001156|Brachydactyly;HP:0000482|Microcornea
hepatic venoocclusive disease with immunodeficiency	HP:0004315|IgG deficiency;HP:0000252|Small head circumference;HP:0002721|Immunodeficiency;HP:0006685|Endocardial fibrosis;HP:0001392|Abnormality of the liver;HP:0002849|Lymphoid germinal center defect
epilepsy telangiectasia	HP:0001250|Seizures;HP:0001999|Facial dysmorphism;HP:0001939|Laboratory abnormality;HP:0000664|Unibrow;HP:0000524|Telangiectasia, conjunctival;HP:0001249|Mental retardation
tryptophanuria with dwarfism	HP:0000992|Skin photosensitivity;HP:0001251|Ataxia;HP:0001288|Gait disturbance;HP:0000524|Telangiectasia, conjunctival;HP:0003361|High urine tryptophan levels;HP:0003510|Proportionate dwarfism;HP:0001249|Mental retardation
otosclerosis 7	HP:0000365|Hearing impairment;HP:0000362|Otosclerosis
pituitary dwarfism with large sella turcica	HP:0000821|Underactive thyroid;HP:0000839|Pituitary dwarfism;HP:0002690|Hyperplasia of sella turcica;HP:0000824|Growth hormone deficiency
hereditary koilonychia	HP:0001598|Koilonychia
auralcephalosyndactyly	HP:0002000|Decreased length of columella;HP:0004692|Symmetric syndactyly, toes 4 and 5;HP:0030680|Abnormality of cardiovascular system morphology;HP:0000365|Hearing impairment;HP:0001363|Early fusion of cranial sutures;HP:0001256|Mild mental retardation
optic atrophy 5	HP:0007924|Slow decrease in visual acuity;HP:0000648|Optic-nerve degeneration;HP:0000603|Central scotomata;HP:0000552|Dyschromatopsia, blue-yellow
chondrocalcinosis with early-onset osteoarthritis	HP:0000934|Chondrocalcinosis;HP:0002758|Osteoarthritis
ichthyosiform erythroderma, corneal involvement, deafness	HP:0001596|Hair loss;HP:0001249|Mental retardation;HP:0004322|Stature below 3rd percentile;HP:0000545|Near sightedness;HP:0001808|Brittle nails;HP:0000509|Conjunctivitis;HP:0000407|sensorineural hearing loss;HP:0000563|Conical cornea;HP:0001394|Hepatic cirrhosis;HP:0001508|Weight faltering;HP:0001019|Exfoliative dermititis;HP:0000613|Extreme light sensitivity;HP:0000633|Decreased tear secretion;HP:0008064|Ichthyosis
laplane fontaine lagardere syndrome	HP:0001387|Stiff joints;HP:0003510|Proportionate dwarfism
dykes markes harper syndrome	HP:0001260|Dysarthric speech;HP:0001433|Enlarged liver and spleen;HP:0008064|Ichthyosis;HP:0001251|Ataxia
immotile cilia syndrome, due to defective radial spokes	HP:0012265|Ciliary dyskinesia;HP:0000246|Sinus inflammation;HP:0012208|Nonmotile sperm;HP:0012267|Absent respiratory ciliary axoneme radial spokes;HP:0100582|Nasal polyps;HP:0002257|Chronic rhinitis;HP:0012263|Immotile cilia
lutz richner landolt syndrome	HP:0001252|Hypotonia;HP:0000954|Simian creases;HP:0000952|Yellow skin;HP:0001552|Barrel chest;HP:0000369|Low-set ears;HP:0000218|Increased palatal height;HP:0001762|Talipes equinovarus;HP:0002827|Hip dislocation;HP:0003355|Aminoaciduria;HP:0002719|infections, recurrent;HP:0002909|Generalized nonspecific aminoaciduria;HP:0002908|Conjugated hyperbilirubinemia;HP:0003076|Glucosuria;HP:0000124|Renal tubular defect;HP:0001996|Chronic metabolic acidosis;HP:0000347|Hypoplasia of mandible;HP:0006560|Bile duct hyperplasia;HP:0001508|Weight faltering;HP:0000093|Proteinuria
spastic diplegia infantile type	HP:0001264|Spastic diplegia;HP:0001249|Mental retardation
alopecia, congenital	HP:0001596|Hair loss;HP:0001006|Marked hypotrichosis
craniosynostosis, philadelphia type	HP:0001363|Craniosynostosis;HP:0000637|Long palpebral fissure;HP:0006101|Finger syndactyly
deafness-hypogonadism syndrome	HP:0100503|Vitamin B1 deficiency;HP:0000708|Behavioral abnormality;HP:0000286|Epicanthus;HP:0011388|Enlarged cochlear aqueduct;HP:0007642|Congenital stationary night blindness;HP:0000815|Hypergonadotropic hypogonadism;HP:0011384|Abnormality of the internal auditory canal;HP:0100543|Cognitive impairment;HP:0002750|Delayed skeletal maturation;HP:0004452|Abnormality of the middle ear ossicles;HP:0001100|Heterochromia iridis;HP:0000316|Hypertelorism;HP:0012717|Severe conductive hearing impairment;HP:0008669|Abnormal spermatogenesis;HP:0000823|Delayed puberty;HP:0000408|Progressive sensorineural hearing impairment;HP:0000381|Stapes ankylosis;HP:0000405|Conductive hearing impairment
nuchal bleb, familial	HP:0001789|Hydrops fetalis;HP:0010878|Fetal cystic hygroma
doughnut lesions of skull, familial	HP:0000670|Dental caries;HP:0002757|Multiple fractures;HP:0003155|Hyperphosphatasia
short stature syndrome, brussels type	HP:0004322|Stature below 3rd percentile;HP:0001939|Laboratory abnormality;HP:0004482|Macrocephaly, relative;HP:0002663|Delayed opacification of the epiphyses;HP:0000774|Low chest circumference;HP:0000325|Triangular face;HP:0000308|Retromicrognathia;HP:0000085|Horseshoe kidney
hereditary thermosensitive neuropathy	HP:0003401|Paresthesia;HP:0001324|Muscular weakness;HP:0001284|Areflexia
triphalangeal thumb non opposable	HP:0001199|Triphalangeal thumb;HP:0010442|Polydactyly
game friedman paradice syndrome	HP:0002982|Bowed tibia;HP:0001760|Foot deformities;HP:0006385|Short legs;HP:0002089|Hypoplastic lungs;HP:0000347|Hypoplasia of mandible;HP:0001539|Omphalocele;HP:0002566|Intestinal malrotation;HP:0000238|Nonsyndromal hydrocephalus;HP:0001511|Prenatal onset growth retardation
beemer ertbruggen syndrome	HP:0000924|Abnormality of the skeletal system;HP:0030680|Abnormality of cardiovascular system morphology;HP:0000062|Ambiguous external genitalia;HP:0000238|Nonsyndromal hydrocephalus;HP:0000431|Broad nasal root;HP:0001873|Low platelet count
arthrogryposis multiplex congenita whistling face	HP:0003781|Oversalivation;HP:0002104|Absence of spontaneous respiration;HP:0005968|Temperature instability;HP:0003761|Calcinosis;HP:0000346|Whistling facial appearance;HP:0000707|Neurological abnormality;HP:0001662|Bradycardia;HP:0002804|Arthrogryposis multiplex congenita;HP:0000201|Pierre-robin deformity
dahlberg borer newcomer syndrome	HP:0006521|Pulmonary lymphangiectasis;HP:0000998|Hypertrichosis;HP:0004322|Stature below 3rd percentile;HP:0002091|Restrictive ventilatory defect;HP:0001634|Mitral valve prolapse;HP:0000829|Hypoparathyroidism;HP:0000506|Telecanthus;HP:0000518|Cataract;HP:0000112|Nephropathy;HP:0003102|Increased carrying angle;HP:0000431|Broad nasal root;HP:0000508|Drooping upper eyelid;HP:0001004|Lymphatic obstruction;HP:0001156|Brachydactyly;HP:0000083|Renal insufficiency
arthrogryposis, distal, type 6	HP:0000407|sensorineural hearing loss;HP:0002804|Arthrogryposis multiplex congenita;HP:0005612|Arthrogryposis-like hand anomaly
sando	HP:0000639|Nystagmus;HP:0006886|Impaired distal vibration sensation;HP:0003200|Ragged-red fibers;HP:0000518|Cataract;HP:0100543|Cognitive deficits;HP:0000590|Progressive external ophthalmoplegia;HP:0003688|Decreased skeletal muscle cytochrome c oxidase activity;HP:0001336|Myoclonic jerks;HP:0000508|Drooping upper eyelid;HP:0007344|Atrophy/Degeneration involving the spinal cord;HP:0003557|Increased fiber size variation;HP:0002403|Positive Romberg sign;HP:0003689|Multiple mtDNA deletions;HP:0002578|Gastroparesis;HP:0003548|Subsarcolemmal accumulations of abnormally shaped mitochondria;HP:0003701|Proximal limb muscle weakness;HP:0002076|Migraine headaches;HP:0001250|Seizures;HP:0001265|Decreased tendon reflexes;HP:0003713|Muscle fiber necrosis;HP:0008180|Mildly increased creatine kinase;HP:0001284|Areflexia;HP:0001260|Dysarthric speech;HP:0001751|Vestibular dysfunction;HP:0001644|Congestive cardiomyopathy;HP:0006858|Impaired distal proprioception;HP:0004389|Intestinal pseudo-obstruction;HP:0003390|Sensory axonal neuropathy;HP:0007240|Gait ataxia, progressive;HP:0000716|Depression;HP:0000407|sensorineural hearing loss;HP:0003434|Sensory ataxic neuropathy;HP:0002151|Increased serum lactate
familial hypoaldosteronism	HP:0001942|Metabolic acidosis;HP:0000127|Renal salt wasting;HP:0012364|Decreased urinary potassium;HP:0001278|Orthostatic hypotension;HP:0001254|Lethargy;HP:0011106|Hypovolemia;HP:0002902|Hyponatremia;HP:0002014|Diarrhea;HP:0002615|Hypotension;HP:0002017|Nausea and vomiting;HP:0000846|Adrenal insufficiency;HP:0001508|Failure to thrive;HP:0002153|Hyperkalemia;HP:0002049|Proximal renal tubular acidosis;HP:0001954|Episodic fever;HP:0000848|Increased circulating renin level;HP:0011968|Feeding difficulties;HP:0001510|Growth delay;HP:0004319|Hypoaldosteronism
braddock syndrome	HP:0000470|Short neck;HP:0005950|Laryngeal web;HP:0000581|Blepharophimosis;HP:0004322|Short stature;HP:0010720|Abnormal hair pattern;HP:0000592|Blue sclerae;HP:0000601|Hypotelorism;HP:0000358|Posteriorly rotated ears;HP:0000767|Pectus excavatum;HP:0002643|Neonatal respiratory distress;HP:0002937|Hemivertebrae;HP:0000347|Micrognathia;HP:0000122|Unilateral renal agenesis;HP:0000921|Missing ribs;HP:0002206|Pulmonary fibrosis;HP:0001511|Intrauterine growth retardation;HP:0000396|Overfolded helix;HP:0000286|Epicanthus;HP:0001177|Preaxial hand polydactyly;HP:0002650|Scoliosis;HP:0001508|Failure to thrive;HP:0005988|Congenital muscular torticollis;HP:0006610|Wide intermamillary distance;HP:0002092|Pulmonary arterial hypertension
dermo-odonto dysplasia	HP:0000963|Thin skin;HP:0000968|Ectodermal dysplasia;HP:0002552|Trichodysplasia;HP:0000691|Microdontia;HP:0100797|Toenail dysplasia;HP:0000492|Abnormality of the eyelid;HP:0000303|Mandibular prognathia;HP:0000958|Dry skin;HP:0000966|Hypohidrosis;HP:0002209|Sparse scalp hair;HP:0100798|Fingernail dysplasia;HP:0002231|Sparse body hair;HP:0009804|Reduced number of teeth;HP:0007477|Abnormal dermatoglyphics;HP:0000508|Ptosis;HP:0000995|Melanocytic nevus
aorto-ventricular tunnel	HP:0001635|Congestive heart failure;HP:0002616|Aortic root dilatation;HP:0011627|Aorto-ventricular tunnel;HP:0001654|Abnormality of the heart valves;HP:0030148|Heart murmur;HP:0001714|Ventricular hypertrophy
autosomal recessive distal osteolysis syndrome	HP:0000455|Broad nasal tip;HP:0001256|Intellectual disability, mild;HP:0011800|Midface retrusion;HP:0000520|Proptosis;HP:0000327|Hypoplasia of the maxilla;HP:0004322|Short stature;HP:0000164|Abnormality of the teeth;HP:0002797|Osteolysis;HP:0009882|Short distal phalanx of finger
congenital alpha2-antiplasmin deficiency	HP:0001892|Abnormal bleeding;HP:0005261|Joint hemorrhage;HP:0040247|Reduced euglobulin clot lysis time;HP:0011884|Abnormal umbilical stump bleeding;HP:0012151|Hemothorax;HP:0000225|Gingival bleeding;HP:0002653|Bone pain;HP:0000978|Bruising susceptibility;HP:0001934|Persistent bleeding after trauma;HP:0000790|Hematuria;HP:0002170|Intracranial hemorrhage;HP:0012233|Intramuscular hematoma
spondylocamptodactyly syndrome	HP:0100490|Camptodactyly of finger;HP:0002650|Scoliosis;HP:0000926|Platyspondyly
fetal iodine syndrome	HP:0000639|Nystagmus;HP:0004374|Hemiplegia/hemiparesis;HP:0000486|Strabismus;HP:0001264|Spastic diplegia;HP:0000407|Sensorineural hearing impairment;HP:0000821|Hypothyroidism;HP:0001249|Intellectual disability
pituitary deficiency due to empty sella turcica syndrome	HP:0000802|Impotence;HP:0001250|Seizures;HP:0007663|Reduced visual acuity;HP:0030532|Visual acuity test abnormality;HP:0000863|Central diabetes insipidus;HP:0000870|Prolactin excess;HP:0002921|Abnormality of the cerebrospinal fluid;HP:0011748|Adrenocorticotropic hormone deficiency;HP:0002893|Pituitary adenoma;HP:0000826|Precocious puberty;HP:0011446|Abnormality of higher mental function;HP:0040075|Hypopituitarism;HP:0002902|Hyponatremia;HP:0002960|Autoimmunity;HP:0002615|Hypotension;HP:0000824|Growth hormone deficiency;HP:0000651|Diplopia;HP:0002315|Headache;HP:0100661|Trigeminal neuralgia;HP:0008245|Pituitary hypothyroidism;HP:0000876|Oligomenorrhea
oculocutaneous albinism type 5	HP:0000639|Nystagmus;HP:0001098|Abnormality of the fundus;HP:0001107|Ocular albinism;HP:0000613|Photophobia;HP:0000218|High palate;HP:0007663|Reduced visual acuity;HP:0007750|Hypoplasia of the fovea
cataract 24, anterior polar	HP:0001134|Anterior polar cataract
thyroid hormone metabolism, abnormal	HP:0002750|Delayed bone maturation;HP:0002925|Increased serum thyroid-stimulating hormone
alpha-thalassemia/mental retardation syndrome, chromosome 16-related	HP:0001249|Mental retardation;HP:0001877|Abnormality of erythrocytes
branchiootic syndrome 2	HP:0000365|Hearing impairment;HP:0002710|Pits at the corners of the lips;HP:0000377|Malformation of auricle;HP:0004467|Pit in front of the ear
alcohol sensitivity, acute	HP:0003533|Delayed oxidation of acetaldehyde;HP:0001033|Facial flushing after alcohol intake
gaucher disease, type iiic	HP:0005173|Aortic stenosis due to calcifications;HP:0000666|Horizontal nystagmus;HP:0001250|Seizures;HP:0007975|Hypometric horizontal saccades;HP:0000486|Squint eyes;HP:0007885|Slowed horizontal saccades;HP:0001744|Splenomegaly;HP:0002240|Enlarged liver;HP:0001876|Low blood cell count;HP:0200129|Calcific mitral valve stenosis;HP:0000238|Nonsyndromal hydrocephalus;HP:0001640|Increased heart size;HP:0007759|Cloudy cornea;HP:0004963|Calcification of the aorta;HP:0001761|Pes cavus;HP:0000623|Supranuclear ophthalmoplegia
amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 2	HP:0000705|Amelogenesis imperfecta
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	HP:0000883|Slender ribs;HP:0004331|Deficient skull ossification;HP:0004322|Stature below 3rd percentile;HP:0006402|Distal shortening of limbs;HP:0006028|Cupping of wide portion of long bone of hand;HP:0012789|Small heel bone;HP:0008905|Rhizomelic short limbs;HP:0000369|Low-set ears;HP:0002866|Hypoplastic iliac alae;HP:0003196|Short nose;HP:0000878|11 pairs of ribs;HP:0000256|Macrocrania;HP:0000238|Nonsyndromal hydrocephalus;HP:0000568|Abnormally small globe of eye;HP:0006208|Metaphyseal cupping of proximal phalanges;HP:0001256|Mild mental retardation;HP:0002007|Frontal protruberance;HP:0000457|Flat dorsum of nose;HP:0001511|Prenatal onset growth retardation;HP:0000926|Flattened vertebral bodies
cd8 deficiency, familial	HP:0002718|Recurrent pyogenic infections;HP:0002110|Bronchiectasis;HP:0005422|Absence of CD8+ T cells;HP:0002205|Frequent respiratory infections;HP:0004429|Recurrent viral infections
desmoid disease, hereditary	HP:0200040|Epidermal inclusion cyst;HP:0003003|Colon cancer;HP:0100245|Desmoid tumors
zinc, elevated plasma	HP:0001939|Laboratory abnormality
pancreatic beta cell agenesis with neonatal diabetes mellitus	HP:0000857|Neonatal insulin-dependent diabetes mellitus;HP:0001438|Abnormality of the abdomen
alport syndrome, autosomal dominant	HP:0000099|Glomerular nephritis;HP:0002148|Hypophosphataemia;HP:0001134|Anterior polar cataract;HP:0003774|End-stage renal failure;HP:0000545|Near sightedness;HP:0000121|Nephrocalcinosis;HP:0000822|Hypertension;HP:0030034|Diffuse lamellation of the glomerular basement membrane;HP:0000407|sensorineural hearing loss;HP:0000100|Nephrosis;HP:0002157|Azotaemia;HP:0000790|Hematuria;HP:0004722|Thickening of the glomerular basement membrane;HP:0000093|Proteinuria;HP:0001142|Lenticonus
deafness, autosomal recessive 68	HP:0000407|sensorineural hearing loss
febrile seizures, familial, 9	HP:0010849|EEG with spike-wave complexes (>3.5 Hz);HP:0002373|Febrile convulsions;HP:0002121|Petit mal seizures
mental retardation, x-linked 23	HP:0001249|Mental retardation
congenital disorder of glycosylation, type iif	HP:0002718|Recurrent pyogenic infections;HP:0040223|Intrapulmonary hemorrhage;HP:0001873|Low platelet count;HP:0001933|Subcutaneous hemorrhage;HP:0001875|Neutropenia
deafness, autosomal recessive 62	HP:0000399|Prelingual sensorineural hearing impairment
gustavson syndrome	HP:0001257|Spasticity;HP:0001250|Seizures;HP:0000252|Small head circumference;HP:0000618|Blindness;HP:0000648|Optic-nerve degeneration;HP:0000365|Hearing impairment;HP:0001141|Severe visual impairment;HP:0001249|Mental retardation;HP:0005193|Restricted large joint movement
charcot-marie-tooth disease, type 2i	HP:0003376|'steppage' gait;HP:0003484|Upper limb muscle weakness;HP:0003693|Muscle atrophy, distal;HP:0002936|Decreased distal sensation;HP:0001265|Decreased tendon reflexes;HP:0001284|Areflexia;HP:0002460|Weakness of distal muscles;HP:0003380|Decreased number of peripheral myelinated nerve fibers;HP:0003378|Axonal degeneration/regeneration;HP:0001761|Pes cavus
nail disorder, nonsyndromic congenital, 7	HP:0001598|Koilonychia
spinal muscular atrophy, distal, autosomal recessive, 3	HP:0002792|Decreased vital capacity;HP:0003445|EMG: neurogenic findings;HP:0007269|Spinal muscle wasting;HP:0003693|Muscle atrophy, distal;HP:0003307|Hyperlordosis;HP:0009113|Diaphragmatic weakness;HP:0007181|Interosseous muscular atrophy;HP:0009053|Muscle weakness, lower limb, distal
mental retardation, autosomal recessive 2	HP:0001256|Mild mental retardation;HP:0001263|Developmental retardation
vacterl association with hydrocephaly, x-linked	HP:0001161|Polydactyly of the hand;HP:0006695|Atrioventricular septal defect, partial;HP:0002023|Anal atresia;HP:0000068|Urethral atresia;HP:0000105|Renal enlargement;HP:0003468|Vertebral anomalies;HP:0003974|Absent ossification/absence of radius;HP:0000126|Hydronephrosis;HP:0001669|Transposition of the great arteries;HP:0000238|Nonsyndromal hydrocephalus;HP:0005792|Short upper arms;HP:0009623|Proximally placed thumbs;HP:0002575|Tracheoesophageal fistula
spinocerebellar ataxia, autosomal recessive 6	HP:0000750|Late-onset speech development;HP:0001252|Hypotonia;HP:0001257|Spasticity;HP:0004322|Stature below 3rd percentile;HP:0001310|Dysmetria;HP:0001251|Ataxia;HP:0002080|Intention tremor;HP:0001347|Hyperreflexia;HP:0001272|Cerebellar atrophy;HP:0002312|Clumsiness;HP:0001763|Pes planus;HP:0002066|Gait ataxia;HP:0001270|Motor retardation
spinocerebellar ataxia, autosomal recessive 3	HP:0005102|Progressive cochlear degeneration;HP:0000365|Hearing impairment;HP:0001251|Ataxia;HP:0000618|Blindness
postaxial polydactyly, type a2	HP:0001162|Postaxial polydactyly of fingers
spastic paraplegia 27, autosomal recessive	HP:0006938|Decreased vibration sense at ankles;HP:0001258|Spastic paraplegia, lower limb;HP:0003487|Extensor plantar reflexes;HP:0002395|Hyperreflexia in the lower limbs;HP:0001260|Dysarthric speech;HP:0002061|Lower limb spasticity;HP:0005340|Spastic/hyperactive bladder
atrial fibrillation, familial, 5	HP:0005110|Atrial fibrillation
parkinson disease 7, autosomal recessive early-onset	HP:0002067|Bradykinesia;HP:0002063|Muscle rigidity;HP:0000725|Psychotic episodes;HP:0002174|Postural tremor;HP:0000643|Spontaneous closure of eyelid;HP:0000739|Anxiety;HP:0002322|Resting tremor
spastic paraplegia 24, autosomal recessive	HP:0001257|Spasticity;HP:0003698|Difficulty in standing;HP:0030051|Walking on tiptoes;HP:0001258|Spastic paraplegia, lower limb;HP:0002169|Clonus
spastic paraplegia 33, autosomal dominant	HP:0001258|Spastic paraplegia, lower limb;HP:0002064|Spastic gait;HP:0001762|Talipes equinovarus;HP:0007340|Lower limb weakness;HP:0003487|Extensor plantar reflexes;HP:0002061|Lower limb spasticity;HP:0011448|Ankle clonus
pseudohypoparathyroidism, type ib	HP:0003165|Elevated circulating PTH level;HP:0010049|Metacarpal hypoplasia;HP:0001513|Obesity;HP:0002905|Hyperphosphatemia;HP:0002901|Hypocalcemia;HP:0000852|Pseudohypoparathyroidism;HP:0001156|Brachydactyly;HP:0003456|Low urinary cyclic AMP response to PTH administration
hypertrichosis universalis congenita, ambras type	HP:0004540|Hypertrichosis universalis
glaucoma 3, primary infantile, b	HP:0008007|Primary congenital glaucoma
ceroid lipofuscinosis, neuronal, 9	HP:0002168|Explosive speech;HP:0001250|Seizures;HP:0003208|Fingerprint profiles ultrastructurally;HP:0002059|Degeneration of cerebrum;HP:0001251|Ataxia;HP:0000529|Slowly progressive visual loss;HP:0001922|Vacuolated blood lymphocytes;HP:0002505|Progressive inability to walk;HP:0002063|Muscle rigidity;HP:0000510|Retinitis pigmentosa;HP:0002300|Muteness;HP:0002361|Psychomotor degeneration;HP:0001260|Dysarthric speech;HP:0000654|Decreased electroretinogram response;HP:0001249|Mental retardation;HP:0000648|Optic-nerve degeneration;HP:0003205|'curvilinear profiles' ultrastructurally
spastic paraplegia 14, autosomal recessive	HP:0001347|Hyperreflexia;HP:0002064|Spastic gait;HP:0001258|Spastic paraplegia, lower limb;HP:0001761|Pes cavus;HP:0007340|Lower limb weakness;HP:0003487|Extensor plantar reflexes;HP:0007002|Motor axonal neuropathy;HP:0001256|Mild mental retardation;HP:0002061|Lower limb spasticity
aneurysm, intracranial berry, 1	HP:0002170|Intracranial hemorrhage;HP:0004944|Cerebral artery aneurysm
spastic paraplegia 19, autosomal dominant	HP:0001347|Hyperreflexia;HP:0011449|Patellar clonus;HP:0002839|Urinary bladder sphincter dysfunction;HP:0002166|Decreased lower limb vibratory sense;HP:0002064|Spastic gait;HP:0001258|Spastic paraplegia, lower limb;HP:0007340|Lower limb weakness;HP:0003487|Extensor plantar reflexes;HP:0000012|Urinary urgency;HP:0000020|Bladder incontinence;HP:0002061|Lower limb spasticity;HP:0011448|Ankle clonus
spastic paraplegia 16, x-linked	HP:0000744|Low frustration tolerance;HP:0001249|Mental retardation;HP:0000486|Squint eyes;HP:0000505|Poor vision;HP:0000327|Maxillary micrognathia;HP:0002362|Shuffling gait;HP:0002445|Paralysis of all four limbs;HP:0000711|Restlessness;HP:0007210|Lower limb amyotrophy;HP:0002839|Urinary bladder sphincter dysfunction;HP:0001347|Hyperreflexia;HP:0001258|Spastic paraplegia, lower limb;HP:0007340|Lower limb weakness;HP:0003487|Extensor plantar reflexes;HP:0000012|Urinary urgency;HP:0000720|Mood swings;HP:0009882|Hypoplastic terminal phalanges;HP:0000020|Bladder incontinence;HP:0002427|Loss of expressive speech;HP:0000297|Reduced facial muscle tone
microphthalmia, isolated 1	HP:0000501|Glaucoma;HP:0000568|Abnormally small globe of eye;HP:0008499|Severe long-sightedness;HP:0000528|Absence of eyeballs
tremor, hereditary essential, 2	HP:0007351|Upper limb postural tremor
hemi 3 syndrome	HP:0001528|Hemihypertrophy;HP:0002650|Scoliosis;HP:0002898|Embryonal neoplasia;HP:0002475|Myelomeningocele;HP:0001256|Mild mental retardation;HP:0003712|Hypertrophic muscles;HP:0002667|Wilms tumor
auditory neuropathy, autosomal dominant, 1	HP:0008529|Absent middle ear reflexes;HP:0001963|Poor speech discrimination;HP:0006958|Abnormal brainstem auditory-evoked potentials;HP:0000407|sensorineural hearing loss
muscular dystrophy, congenital, 1b	HP:0001771|Tight achilles tendon;HP:0003306|Spinal rigidity;HP:0003741|Muscular dystrophy, congenital;HP:0003236|Elevated creatine kinase;HP:0002878|Respiratory failure;HP:0012037|Pectoralis amyotrophy;HP:0003391|Gower sign;HP:0009113|Diaphragmatic weakness;HP:0003547|Muscle weakness, shoulder-girdle;HP:0001290|Generalized hypotonia;HP:0003720|Generalized increase in muscle cell size;HP:0001270|Motor retardation;HP:0010628|Facial palsy, unilateral or bilateral;HP:0012036|Sternocleidomastoid amyotrophy
polycystic kidney disease, infantile severe, with tuberous sclerosis	HP:0000113|Polycystic kidney dysplasia;HP:0006772|Angiomyolipoma;HP:0009717|Cortical tubers
usher syndrome, type 2c	HP:0000510|Retinitis pigmentosa;HP:0008527|Hearing loss, congenital sensorineural
hyperlipoproteinemia, type ib	HP:0002155|Increased triglycerides;HP:0001744|Splenomegaly;HP:0002240|Enlarged liver;HP:0000660|Lipemia retinalis;HP:0001733|Pancreatic inflammation;HP:0001013|Eruptive xanthomas
lymphedema, hereditary, ib	HP:0001004|Lymphatic obstruction
deafness, x-linked 3	HP:0008527|Hearing loss, congenital sensorineural
paroxysmal nonkinesigenic dyskinesia 2	HP:0002076|Migraine headaches;HP:0001250|Seizures;HP:0002268|Paroxysmal dystonia
atrial fibrillation, familial, 6	HP:0005110|Atrial fibrillation
bile acid synthesis defect, congenital, 4	HP:0002240|Enlarged liver;HP:0002904|High blood bilirubin levels;HP:0001406|Intrahepatic cholestasis;HP:0003256|Coagulopathy;HP:0001399|Liver failure;HP:0001508|Weight faltering;HP:0006579|Neonatal jaundice;HP:0002630|Fat malabsorption;HP:0200084|Giant cell hepatitis;HP:0002910|Elevated transaminases
deafness, y-linked 1	HP:0000407|sensorineural hearing loss;HP:0000360|Ringing in the ears
keratoderma, palmoplantar, punctate type ia	HP:0000951|dermatopathy
growth hormone deficiency, isolated partial	HP:0004322|Stature below 3rd percentile
autoimmune lymphoproliferative syndrome, type ii	HP:0001973|Autoimmune thrombocytopenia;HP:0002240|Enlarged liver;HP:0000123|Nephritis;HP:0001891|Iron-deficiency anemia;HP:0003453|Antineutrophil antibodies;HP:0001904|Autoimmune neutropenia;HP:0001890|Autoimmune hemolytic anemia;HP:0003261|Elevated IgA;HP:0002845|Increased number of peripheral CD3+ T cells;HP:0003613|Antiphospholipid antibodies;HP:0003454|Platelet antibody;HP:0002923|Rheumatoid factor positive;HP:0002729|Follicular hyperplasia;HP:0002851|Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors;HP:0000100|Nephrosis;HP:0002972|Decreased reactivity to skin test antigens;HP:0002853|Increased proportion of HLA DR+ and CD57+ T cells;HP:0002731|Defective lymphocyte apoptosis;HP:0002633|Vasculitis;HP:0003262|Smooth muscle antibody positivity;HP:0005404|Increase in B cell number;HP:0001025|Hives;HP:0002730|Chronic noninfectious lymphadenopathy;HP:0001744|Splenomegaly;HP:0003237|Increased IgG level;HP:0003496|Increased levels of IgM;HP:0004844|Coombs-positive hemolytic anemia;HP:0003493|Elevated antinuclear antibody;HP:0001880|Eosinophilia
myoclonic epilepsy, infantile, familial	HP:0007359|Partial seizures;HP:0002069|Generalized tonic clonic seizures;HP:0002123|Myoclonus seizures;HP:0002373|Febrile convulsions
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	HP:0001810|Dystrophic toenail;HP:0001092|Absent lacrimal punctum;HP:0000682|Abnormality of dental enamel;HP:0000535|Sparse eyebrow;HP:0001006|Hypotrichosis;HP:0000698|Conical tooth;HP:0001629|Ventricular septal defect;HP:0000347|Micrognathia;HP:0006101|Finger syndactyly;HP:0002558|Supernumerary nipple;HP:0000668|Hypodontia;HP:0000684|Delayed eruption of teeth;HP:0011819|Submucous cleft soft palate;HP:0001812|Hyperconvex fingernails;HP:0000982|Palmoplantar keratoderma;HP:0002208|Coarse hair;HP:0100335|Non-midline cleft lip;HP:0000175|Cleft palate;HP:0000966|Hypohidrosis;HP:0001608|Abnormality of the voice;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0000653|Sparse eyelashes;HP:0000405|Conductive hearing impairment;HP:0008391|Dystrophic fingernails;HP:0001795|Hyperconvex nail;HP:0000411|Protruding ear;HP:0009755|Ankyloblepharon;HP:0000687|Widely spaced teeth;HP:0007440|Generalized hyperpigmentation;HP:0000176|Submucous cleft hard palate
pseudoxanthomatous diffuse cutaneous mastocytosis	HP:0200151|Cutaneous mastocytosis;HP:0008066|Abnormal blistering of the skin
localized epidermolysis bullosa simplex	HP:0000975|Hyperhidrosis;HP:0001075|Atrophic scars;HP:0008404|Nail dystrophy;HP:0200097|Oral mucosal blisters;HP:0000978|Bruising susceptibility;HP:0001056|Milia;HP:0008066|Abnormal blistering of the skin;HP:0000982|Palmoplantar keratoderma
isolated complex i deficiency	HP:0008316|Abnormal mitochondria in muscle tissue
3-hydroxy-3-methylglutaryl-coa synthase deficiency	HP:0001250|Seizures;HP:0001943|Hypoglycemia;HP:0001939|Abnormality of metabolism/homeostasis
x-linked charcot-marie-tooth disease type 5	HP:0002463|Language impairment;HP:0001251|Ataxia;HP:0000763|Sensory neuropathy;HP:0001288|Gait disturbance;HP:0001324|Muscle weakness;HP:0001337|Tremor;HP:0001761|Pes cavus;HP:0002650|Scoliosis;HP:0001284|Areflexia;HP:0000365|Hearing impairment;HP:0002385|Paraparesis;HP:0003712|Skeletal muscle hypertrophy;HP:0002808|Kyphosis;HP:0007328|Impaired pain sensation;HP:0009830|Peripheral neuropathy;HP:0000648|Optic atrophy;HP:0040129|Abnormal nerve conduction velocity;HP:0001262|Excessive daytime somnolence;HP:0001260|Dysarthria
blomstrand lethal chondrodysplasia	HP:0000520|Proptosis;HP:0002089|Pulmonary hypoplasia;HP:0006487|Bowing of the long bones;HP:0000695|Natal tooth;HP:0000518|Cataract;HP:0003196|Short nose;HP:0005930|Abnormality of epiphysis morphology;HP:0005280|Depressed nasal bridge;HP:0010306|Short thorax;HP:0001789|Hydrops fetalis;HP:0000773|Short ribs;HP:0003015|Flared metaphysis;HP:0000347|Micrognathia;HP:0008921|Neonatal short-limb short stature;HP:0000506|Telecanthus;HP:0000369|Low-set ears;HP:0001680|Coarctation of aorta;HP:0000343|Long philtrum;HP:0000774|Narrow chest;HP:0001538|Protuberant abdomen;HP:0010049|Short metacarpal;HP:0006402|Distal shortening of limbs;HP:0011001|Increased bone mineral density;HP:0006660|Aplastic clavicles;HP:0001622|Premature birth;HP:0003027|Mesomelia;HP:0000272|Malar flattening;HP:0000926|Platyspondyly;HP:0000916|Broad clavicles;HP:0005616|Accelerated skeletal maturation;HP:0000463|Anteverted nares;HP:0010808|Protruding tongue;HP:0003021|Metaphyseal cupping;HP:0005716|Lethal skeletal dysplasia;HP:0100240|Synostosis of joints;HP:0008905|Rhizomelia;HP:0001561|Polyhydramnios
multiple benign circumferential skin creases on limbs	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0000568|Microphthalmia;HP:0004322|Short stature;HP:0007522|Increased number of skin folds;HP:0001635|Congestive heart failure;HP:0000047|Hypospadias;HP:0000347|Micrognathia;HP:0003011|Abnormality of the musculature;HP:0001537|Umbilical hernia;HP:0000343|Long philtrum;HP:0000045|Abnormality of the scrotum;HP:0000271|Abnormality of the face;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0007400|Irregular hyperpigmentation;HP:0000252|Microcephaly;HP:0000046|Scrotal hypoplasia;HP:0002230|Generalized hirsutism;HP:0100560|Upper limb asymmetry;HP:0000023|Inguinal hernia;HP:0006768|Localized neuroblastoma;HP:0001249|Intellectual disability;HP:0000488|Retinopathy;HP:0000482|Microcornea;HP:0000368|Low-set, posteriorly rotated ears;HP:0001072|Thickened skin;HP:0100559|Lower limb asymmetry;HP:0008572|External ear malformation;HP:0000969|Edema
dpm1-cdg	HP:0001250|Seizures;HP:0000504|Abnormality of vision;HP:0000252|Microcephaly;HP:0001252|Muscular hypotonia;HP:0011344|Severe global developmental delay;HP:0000478|Abnormality of the eye
delta-beta-thalassemia	HP:0011902|Abnormal hemoglobin;HP:0001903|Anemia;HP:0001935|Microcytic anemia
agnathia-holoprosencephaly-situs inversus syndrome	HP:0009939|Mandibular aplasia;HP:0000160|Narrow mouth;HP:0001274|Agenesis of corpus callosum;HP:0002098|Respiratory distress;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0009914|Cyclopia;HP:0009924|Aplasia/Hypoplasia involving the nose;HP:0001291|Abnormality of the cranial nerves;HP:0000368|Low-set, posteriorly rotated ears;HP:0000171|Microglossia;HP:0001360|Holoprosencephaly;HP:0001561|Polyhydramnios;HP:0100596|Absent nares;HP:0100663|Synotia;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0001696|Situs inversus totalis;HP:0011386|Narrow internal auditory canal;HP:0008736|Hypoplasia of penis;HP:0000478|Abnormality of the eye
lethal ataxia with deafness and optic atrophy	HP:0001263|Global developmental delay;HP:0001251|Ataxia;HP:0002093|Respiratory insufficiency;HP:0000505|Visual impairment;HP:0003323|Progressive muscle weakness;HP:0003719|Muscle mounding;HP:0100732|Pancreatic fibrosis;HP:0002445|Tetraplegia;HP:0001284|Areflexia;HP:0009830|Peripheral neuropathy;HP:0001522|Death in infancy;HP:0000648|Optic atrophy;HP:0001252|Muscular hypotonia;HP:0000407|Sensorineural hearing impairment;HP:0000762|Decreased nerve conduction velocity;HP:0001249|Intellectual disability
microduplication xp11.22-p11.23 syndrome	HP:0000717|Autism;HP:0001250|Seizures;HP:0001513|Obesity;HP:0000826|Precocious puberty;HP:0001761|Pes cavus;HP:0001770|Toe syndactyly;HP:0001763|Pes planus;HP:0000750|Delayed speech and language development;HP:0012557|EEG with centrotemporal focal spike waves;HP:0001611|Nasal speech;HP:0001609|Hoarse voice;HP:0001249|Intellectual disability
familial progressive cardiac conduction defect	HP:0011675|Arrhythmia
distal 16p11.2 microdeletion syndrome	HP:0001263|Global developmental delay;HP:0000160|Narrow mouth;HP:0001166|Arachnodactyly;HP:0002251|Aganglionic megacolon;HP:0012450|Chronic constipation;HP:0000093|Proteinuria;HP:0000750|Delayed speech and language development;HP:0000104|Renal agenesis;HP:0012622|Chronic kidney disease;HP:0000076|Vesicoureteral reflux;HP:0001250|Seizures;HP:0000729|Autistic behavior;HP:0000077|Abnormality of the kidney;HP:0000294|Low anterior hairline;HP:0000510|Rod-cone dystrophy;HP:0002808|Kyphosis;HP:0007018|Attention deficit hyperactivity disorder;HP:0011351|Moderate receptive language delay;HP:0002149|Hyperuricemia;HP:0002076|Migraine;HP:0001249|Intellectual disability;HP:0000556|Retinal dystrophy;HP:0001319|Neonatal hypotonia;HP:0000426|Prominent nasal bridge;HP:0001513|Obesity;HP:0000300|Oval face
classic mycosis fungoides	HP:0200035|Skin plaque;HP:0000492|Abnormality of the eyelid;HP:0004332|Abnormality of lymphocytes;HP:0008069|Neoplasm of the skin;HP:0010783|Erythema;HP:0002716|Lymphadenopathy;HP:0001029|Poikiloderma;HP:0012192|Cutaneous T-cell lymphoma;HP:0001053|Hypopigmented skin patches;HP:0200042|Skin ulcer;HP:0000962|Hyperkeratosis;HP:0002665|Lymphoma;HP:0007400|Irregular hyperpigmentation;HP:0002240|Hepatomegaly;HP:0000988|Skin rash;HP:0001597|Abnormality of the nail;HP:0001744|Splenomegaly;HP:0001596|Alopecia;HP:0000958|Dry skin;HP:0005561|Abnormality of bone marrow cell morphology;HP:0000989|Pruritus;HP:0000964|Eczema;HP:0000969|Edema
familial multiple trichoepithelioma	HP:0100585|Telangiectasia of the skin;HP:0001482|Subcutaneous nodule;HP:0200034|Papule;HP:0002671|Basal cell carcinoma
x-linked non-syndromic intellectual disability	HP:0001249|Intellectual disability
centripetalis recessive dystrophic epidermolysis bullosa	HP:0001056|Milia;HP:0200037|Skin vesicle;HP:0001075|Atrophic scars;HP:0008404|Nail dystrophy;HP:0001030|Fragile skin
thyroid hormone plasma membrane transport defect	HP:0008247|Asymptomatic hyperthyroxinemia;HP:0000853|Goitre
methimazole embryofetopathy	HP:0000047|Hypospadias;HP:0001680|Coarctation of aorta;HP:0001629|Ventricular septal defect;HP:0001362|Skull defect;HP:0000453|Choanal atresia;HP:0002575|Tracheoesophageal fistula;HP:0001511|Intrauterine growth retardation;HP:0002032|Esophageal atresia;HP:0100589|Urogenital fistula;HP:0001679|Abnormality of the aorta;HP:0000820|Abnormality of the thyroid gland;HP:0000821|Hypothyroidism;HP:0001561|Polyhydramnios
microcephaly-microcornea syndrome, seemanova type	HP:0000278|Retrognathia;HP:0000160|Narrow mouth;HP:0000286|Epicanthus;HP:0000582|Upslanted palpebral fissure;HP:0010864|Intellectual disability, severe;HP:0000568|Microphthalmia;HP:0000518|Cataract;HP:0004322|Short stature;HP:0000252|Microcephaly;HP:0000248|Brachycephaly;HP:0001510|Growth delay;HP:0000218|High palate;HP:0002191|Progressive spasticity;HP:0000135|Hypogonadism;HP:0000482|Microcornea
non-distal trisomy 10q	HP:0000028|Cryptorchidism;HP:0000581|Blepharophimosis;HP:0003196|Short nose;HP:0004322|Short stature;HP:0100543|Cognitive impairment;HP:0000248|Brachycephaly;HP:0000218|High palate;HP:0005280|Depressed nasal bridge;HP:0000232|Everted lower lip vermilion;HP:0000767|Pectus excavatum;HP:0000079|Abnormality of the urinary system;HP:0000347|Micrognathia;HP:0002007|Frontal bossing;HP:0002564|Malformation of the heart and great vessels;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0008056|Aplasia/Hypoplasia affecting the eye;HP:0000494|Downslanted palpebral fissures;HP:0002916|Abnormality of chromosome segregation;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0000348|High forehead;HP:0000444|Convex nasal ridge;HP:0000368|Low-set, posteriorly rotated ears
prata-liberal-goncalves syndrome	HP:0003422|Vertebral segmentation defect;HP:0002650|Scoliosis;HP:0003298|Spina bifida occulta;HP:0001156|Brachydactyly syndrome
craniofacial conodysplasia	HP:0000238|Hydrocephalus;HP:0002176|Spinal cord compression;HP:0004439|Craniofacial dysostosis;HP:0000271|Abnormality of the face;HP:0010230|Cone-shaped epiphyses of the phalanges of the hand
hydroxylysinuria	HP:0003297|High blood lysine levels;HP:0001249|Mental retardation;HP:0002123|Myoclonus seizures
acromelic frontonasal dysostosis; afnd	HP:0000028|Cryptorchidism;HP:0000501|Glaucoma;HP:0002079|Hypoplasia of the corpus callosum;HP:0000248|Brachycephaly;HP:0000316|Increased distance between eye sockets;HP:0100258|Polydactyly, preaxial;HP:0002690|Hyperplasia of sella turcica;HP:0001274|Absent corpus callosum;HP:0006951|Retrocerebellar cyst;HP:0001805|Thick nail;HP:0000506|Telecanthus;HP:0002084|Bifid skull;HP:0001762|Talipes equinovarus;HP:0040075|Hypopituitarism;HP:0000204|Cleft upper lip;HP:0000175|Palatoschisis;HP:0001249|Mental retardation;HP:0001250|Seizures;HP:0002190|Choroid plexus cyst;HP:0010806|U-Shaped upper lip vermilion;HP:0000545|Near sightedness;HP:0011803|Bifid nose;HP:0000455|Increased breadth of tip of nose;HP:0010559|Vertical clivus;HP:0001159|Webbed fingers or toes;HP:0000508|Drooping upper eyelid;HP:0002119|Ventricular dilatation
non-acquired isolated growth hormone deficiency	HP:0000830|Anterior hypopituitarism;HP:0002750|Delayed skeletal maturation;HP:0004322|Short stature
hypothyroidism, congenital, nongoitrous, 5; chng5	HP:0005990|Thyroid hypoplasia;HP:0100028|Abnormal thryoid location;HP:0001939|Laboratory abnormality;HP:0010864|Early and severe mental retardation;HP:0001510|Growth deficiency;HP:0000851|Congenital hypothyroidism;HP:0006887|Progressive mental retardation
microcephaly - albinism - digital anomalies	HP:0001022|Achromasia
leukoencephalopathy-palmoplantar keratoderma syndrome	HP:0010845|EEG with generalized slow activity;HP:0002317|Unsteady gait;HP:0100543|Cognitive impairment;HP:0002079|Hypoplasia of the corpus callosum;HP:0002200|Pseudobulbar signs;HP:0200034|Papule;HP:0000726|Dementia;HP:0003380|Decreased number of peripheral myelinated nerve fibers;HP:0100252|Diaphyseal dysplasia;HP:0000972|Palmoplantar hyperkeratosis;HP:0002273|Tetraparesis;HP:0001276|Hypertonia
distal 22q11.2 microduplication syndrome	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0011039|Abnormality of the helix;HP:0000588|Optic nerve coloboma;HP:0002023|Anal atresia;HP:0005180|Tricuspid regurgitation;HP:0001704|Tricuspid valve prolapse;HP:0001629|Ventricular septal defect;HP:0001770|Toe syndactyly;HP:0000218|High palate;HP:0000445|Wide nose;HP:0000337|Broad forehead;HP:0001260|Dysarthria;HP:0002463|Language impairment;HP:0000490|Deeply set eye;HP:0000582|Upslanted palpebral fissure;HP:0000347|Micrognathia;HP:0000303|Mandibular prognathia;HP:0002007|Frontal bossing;HP:0000369|Low-set ears;HP:0000122|Unilateral renal agenesis;HP:0000486|Strabismus;HP:0000465|Webbed neck;HP:0000316|Hypertelorism;HP:0000158|Macroglossia;HP:0000343|Long philtrum;HP:0000960|Sacral dimple;HP:0001643|Patent ductus arteriosus;HP:0012471|Thick vermilion border;HP:0000494|Downslanted palpebral fissures;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0001618|Dysphonia;HP:0000457|Depressed nasal ridge;HP:0000256|Macrocephaly;HP:0009738|Abnormality of the antihelix;HP:0001836|Camptodactyly of toe;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0100022|Abnormality of movement;HP:0000319|Smooth philtrum;HP:0001182|Tapered finger;HP:0007018|Attention deficit hyperactivity disorder;HP:0001249|Intellectual disability;HP:0000322|Short philtrum;HP:0002162|Low posterior hairline;HP:0001800|Hypoplastic toenails;HP:0000411|Protruding ear;HP:0004422|Biparietal narrowing;HP:0000325|Triangular face;HP:0100490|Camptodactyly of finger;HP:0000280|Coarse facial features;HP:0001252|Muscular hypotonia;HP:0000414|Bulbous nose;HP:0000238|Hydrocephalus;HP:0009795|Branchial fistula;HP:0100540|Palpebral edema
mental retardation associated with psoriasis	HP:0003765|Psoriasis;HP:0001250|Seizures;HP:0001249|Mental retardation
rft1-cdg	HP:0003186|Inverted nipples;HP:0001263|Global developmental delay;HP:0030890|Hyperintensity of cerebral white matter on MRI;HP:0001977|Abnormal thrombosis;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0001251|Ataxia;HP:0002401|Stroke-like episodes;HP:0002120|Cerebral cortical atrophy;HP:0002804|Arthrogryposis multiplex congenita;HP:0011968|Feeding difficulties;HP:0001250|Seizures;HP:0002059|Cerebral atrophy;HP:0000932|Abnormality of the posterior cranial fossa;HP:0000252|Microcephaly;HP:0001508|Failure to thrive;HP:0002240|Hepatomegaly;HP:0001892|Abnormal bleeding;HP:0000505|Visual impairment;HP:0001928|Abnormality of coagulation;HP:0001252|Muscular hypotonia;HP:0007146|Bilateral basal ganglia lesions
distal 7q11.23 microdeletion syndrome	HP:0000717|Autism;HP:0001250|Seizures;HP:0000252|Microcephaly;HP:0001328|Specific learning disability;HP:0001643|Patent ductus arteriosus;HP:0007018|Attention deficit hyperactivity disorder;HP:0002132|Porencephaly;HP:0000718|Aggressive behavior;HP:0002308|Arnold-Chiari malformation;HP:0007302|Bipolar affective disorder;HP:0001631|Atrial septal defect;HP:0001249|Intellectual disability
familial partial lipodystrophy, dunnigan type	HP:0005339|Abnormality of complement system;HP:0001733|Pancreatitis;HP:0003198|Myopathy;HP:0006288|Advanced eruption of teeth;HP:0001677|Coronary artery disease;HP:0000869|Secondary amenorrhea;HP:0001635|Congestive heart failure;HP:0000963|Thin skin;HP:0100820|Glomerulopathy;HP:0003326|Myalgia;HP:0003635|Loss of subcutaneous adipose tissue in limbs;HP:0000855|Insulin resistance;HP:0003712|Skeletal muscle hypertrophy;HP:0001639|Hypertrophic cardiomyopathy;HP:0002155|Hypertriglyceridemia;HP:0009125|Lipodystrophy;HP:0100578|Lipoatrophy;HP:0000147|Polycystic ovaries;HP:0100607|Dysmenorrhea;HP:0100601|Eclampsia;HP:0000991|Xanthomatosis;HP:0001397|Hepatic steatosis;HP:0002240|Hepatomegaly;HP:0002230|Generalized hirsutism;HP:0000311|Round face;HP:0012084|Abnormality of skeletal muscle fiber size;HP:0001597|Abnormality of the nail;HP:0001744|Splenomegaly;HP:0100658|Cellulitis;HP:0000819|Diabetes mellitus;HP:0006824|Cranial nerve paralysis;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0000956|Acanthosis nigricans;HP:0002621|Atherosclerosis
microcephaly and chorioretinopathy, autosomal recessive, 1; mccrp1	HP:0000639|Nystagmus;HP:0000556|Retinal dystrophy;HP:0001250|Seizures;HP:0000541|Detached retina;HP:0004322|Stature below 3rd percentile;HP:0000505|Poor vision;HP:0007731|Chorioretinal dysplasia;HP:0001263|Developmental retardation;HP:0000252|Small head circumference;HP:0000518|Cataract;HP:0002059|Degeneration of cerebrum;HP:0000543|Pale optic disc;HP:0001302|Cerebral pachygyria;HP:0009879|Simplified gyral pattern;HP:0000568|Abnormally small globe of eye;HP:0001000|Pigmentary changes;HP:0007703|Abnormal retinal pigmentation;HP:0001321|Small cerebellum;HP:0008052|Retinal fold;HP:0000340|Receding forehead;HP:0001249|Mental retardation
oculocerebral dysplasia	HP:0012521|Optic nerve aplasia;HP:0001126|Cryptophthalmos;HP:0007633|Bilateral microphthalmos;HP:0001305|Dandy-Walker malformation
myalgia-eosinophilia syndrome associated with tryptophan	HP:0001025|Urticaria;HP:0005469|Flat occiput;HP:0001369|Arthritis;HP:0003011|Abnormality of the musculature;HP:0001072|Thickened skin;HP:0001888|Lymphopenia;HP:0007328|Impaired pain sensation;HP:0001376|Limitation of joint mobility;HP:0002103|Abnormality of the pleura;HP:0001880|Eosinophilia
7p22.1 microduplication syndrome	HP:0000924|Abnormality of the skeletal system;HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0001627|Abnormal heart morphology;HP:0000256|Macrocephaly;HP:0001270|Motor delay;HP:0000077|Abnormality of the kidney;HP:0000356|Abnormality of the outer ear;HP:0000316|Hypertelorism;HP:0001999|Abnormal facial shape;HP:0000750|Delayed speech and language development
hypotrichosis-lymphedema-telangiectasia syndrome; hlts	HP:0000963|Thin skin;HP:0001597|Abnormality of the nail;HP:0001596|Hair loss;HP:0001790|Nonimmune hydrops fetalis;HP:0000164|Abnormality of the teeth;HP:0001006|Marked hypotrichosis;HP:0002223|Absent eyebrow;HP:0000561|Absent eyelashes;HP:0000034|Testicular hydrocele;HP:0003550|Predominantly lower limb lymphedema;HP:0100869|Palmar telangiectasia;HP:0100540|Swelling of eyelids
congenital hypothyroidism due to transplacental passage of maternal tsh-binding inhibitory antibodies	HP:0001263|Global developmental delay;HP:0003270|Abdominal distention;HP:0000239|Large fontanelles;HP:0001537|Umbilical hernia;HP:0002715|Abnormality of the immune system;HP:0002019|Constipation;HP:0000158|Macroglossia;HP:0000280|Coarse facial features;HP:0001510|Growth delay;HP:0001252|Muscular hypotonia;HP:0000952|Jaundice;HP:0100786|Hypersomnia;HP:0000821|Hypothyroidism
fragile x tremor/ataxia syndrome; fxtas	HP:0000639|Nystagmus;HP:0006886|Impaired distal vibration sensation;HP:0001310|Dysmetria;HP:0000298|Lack of facial expression;HP:0000365|Hearing impairment;HP:0001300|Parkinsonism;HP:0000020|Bladder incontinence;HP:0001152|Saccadic pursuit movements;HP:0003326|Muscle pain;HP:0002607|Anal incontinence;HP:0000821|Underactive thyroid;HP:0007010|Poor fine motor coordination;HP:0002066|Gait ataxia;HP:0002174|Postural tremor;HP:0000739|Anxiety;HP:0002506|Diffuse cerebral atrophy;HP:0002067|Bradykinesia;HP:0002080|Intention tremor;HP:0008209|Premature ovarian failure;HP:0001265|Decreased tendon reflexes;HP:0002075|Dysdiadochokinesis;HP:0000726|Dementia;HP:0002354|Memory loss;HP:0002322|Resting tremor;HP:0000802|Erectile dysfunction;HP:0008770|Obsessive-compulsive trait;HP:0001272|Cerebellar atrophy;HP:0000716|Depression;HP:0001260|Dysarthric speech;HP:0000734|Disinhibition
infantile axonal neuropathy	HP:0000639|Nystagmus;HP:0001250|Seizures;HP:0001251|Ataxia;HP:0004374|Hemiplegia/hemiparesis;HP:0100543|Cognitive impairment;HP:0000252|Microcephaly;HP:0002167|Neurological speech impairment;HP:0100022|Abnormality of movement;HP:0001315|Reduced tendon reflexes;HP:0007328|Impaired pain sensation;HP:0010628|Facial palsy;HP:0002376|Developmental regression;HP:0000648|Optic atrophy;HP:0001252|Muscular hypotonia;HP:0000407|Sensorineural hearing impairment;HP:0000762|Decreased nerve conduction velocity;HP:0001276|Hypertonia;HP:0000821|Hypothyroidism;HP:0100651|Type I diabetes mellitus
isolated glycerol kinase deficiency	HP:0002353|EEG abnormality;HP:0000028|Cryptorchidism;HP:0001250|Seizures;HP:0001263|Global developmental delay;HP:0001942|Metabolic acidosis;HP:0003236|Elevated serum creatine phosphokinase;HP:0003307|Hyperlordosis;HP:0004322|Short stature;HP:0002650|Scoliosis;HP:0002167|Neurological speech impairment;HP:0003457|EMG abnormality;HP:0008182|Adrenocortical hypoplasia;HP:0000939|Osteoporosis;HP:0003198|Myopathy;HP:0001252|Muscular hypotonia;HP:0001315|Reduced tendon reflexes;HP:0001249|Intellectual disability
monosomy xp21	HP:0000044|Hypogonadotrophic hypogonadism;HP:0001263|Global developmental delay;HP:0001274|Agenesis of corpus callosum;HP:0003198|Myopathy;HP:0000232|Everted lower lip vermilion;HP:0005949|Apneic episodes in infancy;HP:0001257|Spasticity;HP:0003236|Elevated serum creatine phosphokinase;HP:0003738|Exercise-induced myalgia;HP:0001289|Confusion;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0002017|Nausea and vomiting;HP:0002155|Hypertriglyceridemia;HP:0000540|Hypermetropia;HP:0001510|Growth delay;HP:0040019|Finger clinodactyly;HP:0001993|Ketoacidosis;HP:0001250|Seizures;HP:0003199|Decreased muscle mass;HP:0000403|Recurrent otitis media;HP:0001259|Coma;HP:0001388|Joint laxity;HP:0000939|Osteoporosis;HP:0000846|Adrenal insufficiency;HP:0000565|Esotropia;HP:0001249|Intellectual disability;HP:0001319|Neonatal hypotonia;HP:0008981|Calf muscle hypertrophy;HP:0008207|Primary adrenal insufficiency;HP:0003750|Increased muscle fatiguability;HP:0004349|Reduced bone mineral density
distal 7q11.23 microduplication syndrome	HP:0001256|Intellectual disability, mild;HP:0000028|Cryptorchidism;HP:0001724|Aortic dilatation;HP:0000729|Autistic behavior;HP:0007330|Frontal encephalocele;HP:0001643|Patent ductus arteriosus;HP:0000750|Delayed speech and language development;HP:0007018|Attention deficit hyperactivity disorder;HP:0001252|Muscular hypotonia;HP:0002308|Arnold-Chiari malformation;HP:0000238|Hydrocephalus;HP:0100835|Benign neoplasm of the central nervous system;HP:0000739|Anxiety;HP:0000776|Congenital diaphragmatic hernia
congenital pericardium anomaly	HP:0001702|Abnormality of the tricuspid valve;HP:0001643|Patent ductus arteriosus;HP:0001636|Tetralogy of Fallot;HP:0001671|Abnormality of the cardiac septa
nephronophthisis 7; nphp7	HP:0000090|juvenile nephronophthisis;HP:0003774|End-stage renal failure;HP:0000092|Tubular atrophy
osteopathia striata - pigmentary dermopathy - white forelock	HP:0010740|Osteopathia striata
digital arthropathy-brachydactyly, familial; fdab	HP:0005872|Brachytelomesophalangy;HP:0005819|Short middle phalanges;HP:0003795|Short middle phalanx of toe;HP:0009466|Radially deviated phalanges;HP:0001857|Hypoplastic distal phalanges of feet;HP:0009882|Hypoplastic terminal phalanges;HP:0003040|Arthropathy
10q22.3q23.3 microdeletion syndrome	HP:0001263|Global developmental delay;HP:0200008|Intestinal polyposis;HP:0001704|Tricuspid valve prolapse;HP:0001166|Arachnodactyly;HP:0001321|Cerebellar hypoplasia;HP:0000601|Hypotelorism;HP:0005280|Depressed nasal bridge;HP:0002463|Language impairment;HP:0000582|Upslanted palpebral fissure;HP:0002007|Frontal bossing;HP:0000369|Low-set ears;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0001643|Patent ductus arteriosus;HP:0002308|Arnold-Chiari malformation;HP:0000494|Downslanted palpebral fissures;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000256|Macrocephaly;HP:0100444|Curved middle phalanx of the 4th toe;HP:0000252|Microcephaly;HP:0001508|Failure to thrive;HP:0007018|Attention deficit hyperactivity disorder;HP:0001249|Intellectual disability;HP:0000717|Autism;HP:0001883|Talipes;HP:0100783|Breast aplasia;HP:0000308|Microretrognathia;HP:0000463|Anteverted nares;HP:0006695|Atrioventricular canal defect
thoraco-abdominal enteric duplication	HP:0001702|Abnormality of the tricuspid valve;HP:0002093|Respiratory insufficiency;HP:0001651|Dextrocardia;HP:0000921|Missing ribs;HP:0100563|Diastomatomyelia;HP:0002566|Intestinal malrotation;HP:0100490|Camptodactyly of finger;HP:0100867|Duodenal stenosis;HP:0100555|Asymmetric growth;HP:0002435|Meningocele;HP:0002240|Hepatomegaly;HP:0007477|Abnormal dermatoglyphics
epidermolysis bullosa simplex with anodontia/hypodontia	HP:0000322|Short philtrum;HP:0001800|Hypoplastic toenails;HP:0003473|Fatigable weakness;HP:0001083|Ectopia lentis;HP:0001596|Alopecia;HP:0000303|Mandibular prognathia;HP:0000682|Abnormality of dental enamel;HP:0100797|Toenail dysplasia;HP:0100543|Cognitive impairment;HP:0002209|Sparse scalp hair;HP:0000545|Myopia;HP:0000365|Hearing impairment;HP:0000684|Delayed eruption of teeth;HP:0009804|Reduced number of teeth;HP:0100798|Fingernail dysplasia;HP:0001231|Abnormality of the fingernails;HP:0008066|Abnormal blistering of the skin;HP:0001903|Anemia;HP:0000271|Abnormality of the face
syndromic x-linked intellectual disability 7	HP:0000028|Cryptorchidism;HP:0001513|Obesity;HP:0002342|Intellectual disability, moderate;HP:0001324|Muscle weakness;HP:0000692|Misalignment of teeth;HP:0004322|Short stature;HP:0006482|Abnormality of dental morphology;HP:0001182|Tapered finger;HP:0002546|Incomprehensible speech;HP:0002231|Sparse body hair;HP:0008736|Hypoplasia of penis;HP:0000054|Micropenis;HP:0000572|Visual loss;HP:0001249|Mental retardation;HP:0000135|Hypogonadism;HP:0001249|Intellectual disability
congenital pulmonary venous return anomaly	HP:0002564|Malformation of the heart and great vessels;HP:0001671|Abnormality of the cardiac septa;HP:0010772|Anomalous pulmonary venous return;HP:0002093|Respiratory insufficiency
brachydactylous dwarfism, mseleni type	HP:0009811|Abnormality of the elbow;HP:0003312|Abnormal form of the vertebral bodies;HP:0001369|Arthritis;HP:0004322|Short stature;HP:0001367|Abnormal joint morphology;HP:0000938|Osteopenia;HP:0003019|Abnormality of the wrist;HP:0003272|Abnormality of the hip bone;HP:0001156|Brachydactyly syndrome;HP:0005930|Abnormality of epiphysis morphology;HP:0000944|Abnormality of the metaphyses;HP:0002815|Abnormality of the knee
17q12 microduplication syndrome	HP:0001250|Seizures;HP:0000490|Deeply set eye;HP:0000175|Cleft palate;HP:0100716|Self-injurious behavior;HP:0006101|Finger syndactyly;HP:0000568|Microphthalmia;HP:0003468|Abnormality of the vertebrae;HP:0001770|Toe syndactyly;HP:0000664|Synophrys;HP:0001249|Intellectual disability;HP:0001561|Polyhydramnios;HP:0002575|Tracheoesophageal fistula;HP:0000501|Glaucoma;HP:0002539|Cortical dysplasia;HP:0001631|Atrial septal defect;HP:0002463|Language impairment;HP:0000750|Delayed speech and language development
humero-radio-ulnar synostosis	HP:0002974|Radioulnar synostosis;HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0003070|Elbow ankylosis;HP:0001048|Cavernous hemangioma;HP:0001163|Abnormality of the metacarpal bones;HP:0001172|Abnormality of the thumb;HP:0000069|Abnormality of the ureter;HP:0100560|Upper limb asymmetry;HP:0010935|Abnormality of the upper urinary tract
disorder of bile acid synthesis	HP:0001892|Abnormal bleeding;HP:0002910|Elevated hepatic transaminases;HP:0002748|Rickets;HP:0000707|Abnormality of the nervous system;HP:0001396|Cholestasis;HP:0009830|Peripheral neuropathy;HP:0001080|Biliary tract abnormality;HP:0001392|Abnormality of the liver;HP:0002630|Fat malabsorption;HP:0000662|Nyctalopia
distal monosomy 19p13.3	HP:0001263|Global developmental delay;HP:0001704|Tricuspid valve prolapse;HP:0001629|Ventricular septal defect;HP:0001166|Arachnodactyly;HP:0010511|Long toe;HP:0001537|Umbilical hernia;HP:0000276|Long face;HP:0005692|Joint hyperflexibility;HP:0004313|Decreased antibody level in blood;HP:0000574|Thick eyebrow;HP:0000407|Sensorineural hearing impairment;HP:0001250|Seizures;HP:0000175|Cleft palate;HP:0010562|Keloids;HP:0100672|Vaginal hernia;HP:0010882|Pulmonary valve atresia;HP:0000327|Hypoplasia of the maxilla;HP:0000405|Conductive hearing impairment;HP:0001249|Intellectual disability;HP:0000322|Short philtrum;HP:0001596|Alopecia;HP:0000368|Low-set, posteriorly rotated ears;HP:0001252|Muscular hypotonia
rothmund-thomson syndrome type 1	HP:0010783|Erythema;HP:0001029|Poikiloderma;HP:0008404|Nail dystrophy;HP:0002652|Skeletal dysplasia;HP:0004334|Dermal atrophy;HP:0000518|Cataract;HP:0001006|Hypotrichosis;HP:0000992|Cutaneous photosensitivity;HP:0001053|Hypopigmented skin patches;HP:0004322|Short stature;HP:0000561|Absent eyelashes;HP:0000164|Abnormality of the teeth;HP:0002223|Absent eyebrow;HP:0002299|Brittle hair;HP:0007495|Prematurely aged appearance;HP:0000953|Hyperpigmentation of the skin;HP:0000982|Palmoplantar keratoderma;HP:0001510|Growth delay
isolated cerebellar hypoplasia/agenesis	HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0001251|Ataxia;HP:0000256|Macrocephaly;HP:0000496|Abnormality of eye movement;HP:0000252|Microcephaly;HP:0002167|Neurological speech impairment;HP:0100022|Abnormality of movement;HP:0001252|Muscular hypotonia;HP:0001276|Hypertonia
autosomal recessive limb-girdle muscular dystrophy type 2h	HP:0002515|Waddling gait;HP:0000098|Tall stature;HP:0001288|Gait disturbance;HP:0000298|Mask-like facies;HP:0003236|Elevated serum creatine phosphokinase;HP:0003457|EMG abnormality;HP:0003198|Myopathy;HP:0008994|Proximal muscle weakness in lower limbs;HP:0003557|Increased variability in muscle fiber diameter
syndrome with brachydactyly	HP:0001831|Short toe;HP:0006101|Finger syndactyly;HP:0004322|Short stature;HP:0009773|Symphalangism affecting the phalanges of the hand;HP:0001770|Toe syndactyly;HP:0001161|Hand polydactyly;HP:0009465|Ulnar deviation of finger;HP:0010049|Short metacarpal;HP:0001156|Brachydactyly syndrome
intellectual disability, wolff type	HP:0000028|Cryptorchidism;HP:0010864|Intellectual disability, severe;HP:0008559|Hypoplastic superior helix;HP:0001176|Large hands;HP:0001376|Limitation of joint mobility;HP:0000047|Hypospadias;HP:0000582|Upslanted palpebral fissure;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0011344|Severe global developmental delay;HP:0100335|Non-midline cleft lip;HP:0001249|Mental retardation;HP:0001250|Seizures;HP:0002650|Scoliosis;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0000023|Inguinal hernia;HP:0000202|Oral cleft;HP:0001597|Abnormality of the nail;HP:0002162|Low posterior hairline;HP:0000179|Thick lower lip vermilion;HP:0002750|Delayed skeletal maturation;HP:0000308|Microretrognathia;HP:0002242|Abnormality of the intestine;HP:0011304|Broad thumb;HP:0000400|Macrotia;HP:0100490|Camptodactyly of finger;HP:0000414|Bulbous nose;HP:0009882|Short distal phalanx of finger;HP:0000340|Sloping forehead
isolated punctate palmoplantar keratoderma	HP:0001597|Abnormality of the nail;HP:0000962|Hyperkeratosis;HP:0002665|Lymphoma;HP:0001072|Thickened skin;HP:0200043|Verrucae;HP:0003002|Breast carcinoma;HP:0000982|Palmoplantar keratoderma;HP:0003003|Colon cancer
craniosynostosis, herrmann-opitz type	HP:0000262|Turricephaly;HP:0003196|Short nose;HP:0004322|Short stature;HP:0100543|Cognitive impairment;HP:0001562|Oligohydramnios;HP:0000248|Brachycephaly;HP:0010935|Abnormality of the upper urinary tract;HP:0001156|Brachydactyly syndrome;HP:0001171|Split hand;HP:0000347|Micrognathia;HP:0006101|Finger syndactyly;HP:0000465|Webbed neck;HP:0000316|Hypertelorism;HP:0001511|Intrauterine growth retardation;HP:0000772|Abnormality of the ribs;HP:0000175|Cleft palate;HP:0009738|Abnormality of the antihelix;HP:0000795|Abnormality of the urethra;HP:0000272|Malar flattening;HP:0001363|Craniosynostosis;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0000444|Convex nasal ridge;HP:0008551|Microtia;HP:0002983|Micromelia
x-linked intellectual disability, abidi type	HP:0000411|Protruding ear;HP:0000175|Cleft palate;HP:0000426|Prominent nasal bridge;HP:0004322|Short stature;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0000365|Hearing impairment;HP:0001249|Intellectual disability;HP:0008734|Decreased testicular size;HP:0000767|Pectus excavatum;HP:0100335|Non-midline cleft lip;HP:0001249|Mental retardation;HP:0000340|Sloping forehead
immunoglobulin a vasculitis	HP:0001025|Urticaria;HP:0100796|Orchitis;HP:0002239|Gastrointestinal hemorrhage;HP:0012733|Macule;HP:0011276|Vascular skin abnormality;HP:0000978|Bruising susceptibility;HP:0002027|Abdominal pain;HP:0002383|Encephalitis;HP:0000093|Proteinuria;HP:0000083|Renal insufficiency;HP:0010783|Erythema;HP:0002829|Arthralgia;HP:0100820|Glomerulopathy;HP:0003326|Myalgia;HP:0100534|Episcleritis;HP:0002017|Nausea and vomiting;HP:0200042|Skin ulcer;HP:0000979|Purpura;HP:0000790|Hematuria;HP:0002111|Restrictive deficit on pulmonary function testing;HP:0004374|Hemiplegia/hemiparesis;HP:0001250|Seizures;HP:0002633|Vasculitis;HP:0001945|Fever;HP:0000648|Optic atrophy;HP:0002076|Migraine;HP:0000988|Skin rash;HP:0005244|Gastrointestinal infarctions;HP:0001369|Arthritis;HP:0001324|Muscle weakness;HP:0100665|Angioedema;HP:0002039|Anorexia;HP:0200039|Pustule;HP:0000969|Edema
isolated plagiocephaly	HP:0001263|Global developmental delay;HP:0001357|Plagiocephaly;HP:0011800|Midface retrusion;HP:0000324|Facial asymmetry;HP:0000256|Macrocephaly;HP:0001123|Visual field defect;HP:0000496|Abnormality of eye movement;HP:0002007|Frontal bossing;HP:0000486|Strabismus;HP:0000365|Hearing impairment;HP:0001249|Intellectual disability
coffin-lowry syndrome; cls	HP:0010049|Metacarpal hypoplasia;HP:0000767|Funnel chest;HP:0000689|Misalignment of upper and lower dental arches;HP:0004325|Low body weight;HP:0000445|Broad nose;HP:0002553|Highly arched eyebrow;HP:0009746|Thick septum of nose;HP:0000336|Prominent supraorbital ridges;HP:0000463|Nostrils anteverted;HP:0000316|Increased distance between eye sockets;HP:0000194|Slack jawed appearance;HP:0002868|Narrow iliac wings;HP:0002035|Rectal prolapse;HP:0000954|Simian creases;HP:0002684|Thickened calvarium;HP:0000973|Dermatomegaly;HP:0004322|Stature below 3rd percentile;HP:0000506|Telecanthus;HP:0002808|Gibbus deformity;HP:0008454|Rounded lower back;HP:0006129|Drumstick shaped digital bones;HP:0000574|Thick eyebrow;HP:0000232|Everted prominent lower lip;HP:0000189|Decreased transverse dimension of palate;HP:0000139|Sagging uterus;HP:0001249|Mental retardation;HP:0001812|Tubular fingernails;HP:0001252|Hypotonia;HP:0001169|Wide palm;HP:0001250|Seizures;HP:0000252|Small head circumference;HP:0010309|Bifid sternum;HP:0001476|Late closure of the bregma sutures;HP:0000965|Livedo reticularis;HP:0001653|Mitral valve insufficiency;HP:0000218|Increased palatal height;HP:0000411|Prominent ears;HP:0002650|Scoliosis;HP:0001182|Tapered finger;HP:0002750|Delayed bone maturation;HP:0002119|Ventricular dilatation;HP:0001187|Finger joint hyperextensibility;HP:0000023|Inguinal hernia;HP:0002208|Coarse hair texture;HP:0000303|Increased size of lower jaw;HP:0000687|Widely spaced teeth;HP:0000407|sensorineural hearing loss;HP:0000280|Coarse facial features;HP:0001763|Pes planus;HP:0000494|Downward slanting palpebral fissures;HP:0000768|Pectus carinatum;HP:0000668|Failure of development of between one and six teeth;HP:0002673|Coxa valga
cushing syndrome due to ectopic acth secretion	HP:0001061|Acne;HP:0001065|Striae distensae;HP:0000787|Nephrolithiasis;HP:0012378|Fatigue;HP:0000978|Bruising susceptibility;HP:0400008|Menometrorrhagia;HP:0001824|Weight loss;HP:0030357|Small cell lung carcinoma;HP:0000963|Thin skin;HP:0100634|Neuroendocrine neoplasm;HP:0002014|Diarrhea;HP:0000822|Hypertension;HP:0100735|Hypertensive crisis;HP:0000739|Anxiety;HP:0002666|Pheochromocytoma;HP:0002900|Hypokalemia;HP:0100522|Thymoma;HP:0002757|Recurrent fractures;HP:0000939|Osteoporosis;HP:0002230|Generalized hirsutism;HP:0000311|Round face;HP:0002890|Thyroid carcinoma;HP:0000789|Infertility;HP:0002721|Immunodeficiency;HP:0001324|Muscle weakness;HP:0000819|Diabetes mellitus;HP:0001956|Truncal obesity;HP:0000716|Depression;HP:0007440|Generalized hyperpigmentation;HP:0003202|Skeletal muscle atrophy
metacarpal 4-5 fusion; mf4	HP:0005867|Fused 4th-5th metacarpals
ceroid lipofuscinosis, neuronal, 7; cln7	HP:0000750|Late-onset speech development;HP:0002059|Degeneration of cerebrum;HP:0001251|Ataxia;HP:0001263|Developmental retardation;HP:0000618|Blindness;HP:0002123|Myoclonus seizures;HP:0000488|Noninflammatory retina disease;HP:0001268|Mental deterioration;HP:0001272|Cerebellar atrophy;HP:0000580|Pigmentary retinopathy;HP:0002353|Abnormal EEG;HP:0002180|Neurodegeneration;HP:0000572|Visual loss;HP:0002360|Sleep disturbance;HP:0000648|Optic-nerve degeneration
alopecia-intellectual disability syndrome	HP:0000815|Hypergonadotropic hypogonadism;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0005105|Abnormal nasal morphology;HP:0011842|Abnormality of skeletal morphology;HP:0001156|Brachydactyly syndrome;HP:0001171|Split hand;HP:0001371|Flexion contracture;HP:0002231|Sparse body hair;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0001510|Growth delay;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0002209|Sparse scalp hair;HP:0000252|Microcephaly;HP:0002650|Scoliosis;HP:0001249|Intellectual disability;HP:0200012|Short corpus callosum;HP:0001596|Alopecia;HP:0002750|Delayed skeletal maturation;HP:0000613|Photophobia;HP:0000400|Macrotia;HP:0001252|Muscular hypotonia;HP:0008064|Ichthyosis
arrhinia - choanal atresia - microphthalmia	HP:0000568|Abnormally small globe of eye;HP:0000135|Hypogonadism;HP:0004409|Decreased smell sensation;HP:0009927|Failure of development of nose;HP:0000453|Blockage of the rear opening of the nasal cavity
thomsen and becker disease	HP:0002486|Myotonia;HP:0003457|EMG abnormality
familial atrial myxoma	HP:0001635|Congestive heart failure;HP:0010741|Edema of the lower limbs;HP:0002875|Exertional dyspnea;HP:0001396|Cholestasis;HP:0005180|Tricuspid regurgitation;HP:0006689|Bacterial endocarditis;HP:0002617|Aneurysm;HP:0003388|Easy fatigability;HP:0006691|Pulmonic valve myxoma;HP:0011672|Cardiac myxoma;HP:0100749|Chest pain;HP:0004944|Cerebral aneurysm;HP:0001640|Cardiomegaly;HP:0001945|Fever;HP:0030148|Heart murmur;HP:0000952|Jaundice;HP:0001907|Thromboembolism;HP:0001541|Ascites
spastic paresis, glaucoma, and mental retardation	HP:0000501|Glaucoma;HP:0001258|Spastic paraplegia, lower limb;HP:0001249|Mental retardation
rare hereditary hemochromatosis	HP:0000044|Hypogonadotrophic hypogonadism;HP:0002612|Congenital hepatic fibrosis;HP:0002829|Arthralgia;HP:0003281|Increased serum ferritin;HP:0001394|Cirrhosis;HP:0012378|Fatigue;HP:0001387|Joint stiffness;HP:0001386|Joint swelling;HP:0001367|Abnormal joint morphology;HP:0002896|Neoplasm of the liver;HP:0000939|Osteoporosis;HP:0007440|Generalized hyperpigmentation;HP:0001638|Cardiomyopathy
congenital unilateral hypoplasia of depressor anguli oris	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0005562|Multiple renal cysts;HP:0004322|Short stature;HP:0001629|Ventricular septal defect;HP:0000178|Abnormality of lower lip;HP:0004414|Abnormality of the pulmonary artery;HP:0011333|Asymmetric crying face;HP:0008678|Renal hypoplasia/aplasia;HP:0000347|Micrognathia;HP:0002564|Malformation of the heart and great vessels;HP:0001636|Tetralogy of Fallot;HP:0002120|Cerebral cortical atrophy;HP:0001276|Hypertonia;HP:0000076|Vesicoureteral reflux;HP:0000175|Cleft palate;HP:0002093|Respiratory insufficiency;HP:0000252|Microcephaly;HP:0003272|Abnormality of the hip bone;HP:0001679|Abnormality of the aorta;HP:0000411|Protruding ear;HP:0003422|Vertebral segmentation defect;HP:0001387|Joint stiffness;HP:0002086|Abnormality of the respiratory system;HP:0009804|Reduced number of teeth;HP:0000776|Congenital diaphragmatic hernia
seizures, benign familial infantile, 1; bfis1	HP:0007359|Partial seizures;HP:0000961|Cyanosis;HP:0002372|Normal interictal EEG;HP:0040168|Focal seizures, afebril;HP:0011146|Dialeptic seizures;HP:0007334|Partial seizures with secondary generalization
retinal ciliopathy due to mutation in usher gene	HP:0000639|Nystagmus;HP:0001317|Abnormality of the cerebellum;HP:0000670|Carious teeth;HP:0000518|Cataract;HP:0000682|Abnormality of dental enamel;HP:0000545|Myopia;HP:0003198|Myopathy;HP:0000572|Visual loss;HP:0008278|Cerebellar cortical atrophy;HP:0000512|Abnormal electroretinogram;HP:0001251|Ataxia;HP:0011073|Abnormality of dental color;HP:0008499|High-grade hypermetropia;HP:0011025|Abnormality of cardiovascular system physiology;HP:0007730|Iris hypopigmentation;HP:0000359|Abnormality of the inner ear;HP:0000407|Sensorineural hearing impairment;HP:0000739|Anxiety;HP:0003457|EMG abnormality;HP:0000483|Astigmatism;HP:0000709|Psychosis;HP:0010780|Hyperacusis;HP:0001638|Cardiomyopathy;HP:0001249|Intellectual disability;HP:0000691|Microdontia;HP:0000789|Infertility;HP:0001123|Visual field defect;HP:0000738|Hallucinations;HP:0000360|Tinnitus;HP:0000662|Nyctalopia
non-rhizomelic chondrodysplasia punctata	HP:0000639|Nystagmus;HP:0000470|Short neck;HP:0000078|Abnormality of the genital system;HP:0006487|Bowing of the long bones;HP:0000518|Cataract;HP:0003196|Short nose;HP:0001601|Laryngomalacia;HP:0004322|Short stature;HP:0100543|Cognitive impairment;HP:0005930|Abnormality of epiphysis morphology;HP:0008064|Ichthyosis;HP:0100555|Asymmetric growth;HP:0005280|Depressed nasal bridge;HP:0001376|Limitation of joint mobility;HP:0000767|Pectus excavatum;HP:0008736|Hypoplasia of penis;HP:0001156|Brachydactyly syndrome;HP:0000582|Upslanted palpebral fissure;HP:0000965|Cutis marmorata;HP:0008420|Punctate vertebral calcifications;HP:0012368|Flat face;HP:0002007|Frontal bossing;HP:0000126|Hydronephrosis;HP:0002564|Malformation of the heart and great vessels;HP:0000486|Strabismus;HP:0003298|Spina bifida occulta;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0001162|Postaxial hand polydactyly;HP:0010804|Tented upper lip vermilion;HP:0001511|Intrauterine growth retardation;HP:0000612|Iris coloboma;HP:0001510|Growth delay;HP:0000286|Epicanthus;HP:0003312|Abnormal form of the vertebral bodies;HP:0000003|Multicystic kidney dysplasia;HP:0011849|Abnormal bone ossification;HP:0000457|Depressed nasal ridge;HP:0002093|Respiratory insufficiency;HP:0001163|Abnormality of the metacarpal bones;HP:0002650|Scoliosis;HP:0003272|Abnormality of the hip bone;HP:0000664|Synophrys;HP:0001622|Premature birth;HP:0005819|Short middle phalanx of finger;HP:0000272|Malar flattening;HP:0000648|Optic atrophy;HP:0002240|Hepatomegaly;HP:0004209|Clinodactyly of the 5th finger;HP:0000311|Round face;HP:0000405|Conductive hearing impairment;HP:0001744|Splenomegaly;HP:0001800|Hypoplastic toenails;HP:0000567|Chorioretinal coloboma;HP:0001596|Alopecia;HP:0010655|Epiphyseal stippling;HP:0002750|Delayed skeletal maturation;HP:0000463|Anteverted nares;HP:0011304|Broad thumb;HP:0005844|Rounded middle phalanx of finger;HP:0000368|Low-set, posteriorly rotated ears;HP:0002648|Abnormality of calvarial morphology;HP:0001252|Muscular hypotonia;HP:0001231|Abnormality of the fingernails;HP:0002002|Deep philtrum;HP:0002983|Micromelia;HP:0009882|Short distal phalanx of finger;HP:0001561|Polyhydramnios
multiple synostoses syndrome 3; syns3	HP:0009701|Synostosis involving the metacarpal bones;HP:0002967|Cubitus valgus;HP:0003041|Humeral radial synostosis;HP:0001440|Fusion of metatarsals;HP:0006064|Limited interphalangeal movement
pelvic dysplasia - arthrogryposis of lower limbs	HP:0002804|Arthrogryposis multiplex congenita
cocaine embryofetopathy	HP:0001626|Abnormality of the cardiovascular system;HP:0011100|Intestinal atresia;HP:0000079|Abnormality of the urinary system;HP:0001347|Hyperreflexia;HP:0002084|Encephalocele;HP:0100657|Celosomia;HP:0001276|Hypertonia;HP:0009882|Short distal phalanx of finger
paternal 20q13.2q13.3 microdeletion syndrome	HP:0001562|Oligohydramnios;HP:0010781|Skin dimples;HP:0000233|Thin vermilion border;HP:0002098|Respiratory distress;HP:0000963|Thin skin;HP:0000490|Deeply set eye;HP:0000347|Micrognathia;HP:0000316|Hypertelorism;HP:0001010|Hypopigmentation of the skin;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0001511|Intrauterine growth retardation;HP:0100578|Lipoatrophy;HP:0011968|Feeding difficulties;HP:0001256|Intellectual disability, mild;HP:0000252|Microcephaly;HP:0011343|Moderate global developmental delay;HP:0008070|Sparse hair;HP:0001508|Failure to thrive;HP:0000431|Wide nasal bridge;HP:0000322|Short philtrum;HP:0000348|High forehead;HP:0000400|Macrotia;HP:0001252|Muscular hypotonia;HP:0000414|Bulbous nose
sialidosis type 1	HP:0000639|Nystagmus;HP:0001336|Myoclonus;HP:0000518|Cataract;HP:0004322|Short stature;HP:0011276|Vascular skin abnormality;HP:0000943|Dysostosis multiplex;HP:0010306|Short thorax;HP:0001251|Ataxia;HP:0002652|Skeletal dysplasia;HP:0002007|Frontal bossing;HP:0002167|Neurological speech impairment;HP:0010729|Cherry red spot of the macula;HP:0000407|Sensorineural hearing impairment;HP:0002353|EEG abnormality;HP:0003461|Increased urinary O-linked sialopeptides;HP:0000962|Hyperkeratosis;HP:0001250|Seizures;HP:0003312|Abnormal form of the vertebral bodies;HP:0007957|Corneal opacity;HP:0012061|Urinary excretion of sialylated oligosaccharides;HP:0001288|Gait disturbance;HP:0002650|Scoliosis;HP:0001350|Slurred speech;HP:0100022|Abnormality of movement;HP:0003355|Aminoaciduria;HP:0002808|Kyphosis;HP:0000529|Progressive visual loss;HP:0000431|Wide nasal bridge;HP:0000762|Decreased nerve conduction velocity;HP:0001249|Intellectual disability;HP:0001744|Splenomegaly;HP:0000179|Thick lower lip vermilion;HP:0000505|Visual impairment;HP:0001324|Muscle weakness;HP:0000488|Retinopathy;HP:0001337|Tremor;HP:0002750|Delayed skeletal maturation;HP:0000280|Coarse facial features;HP:0100790|Hernia;HP:0001252|Muscular hypotonia;HP:0000768|Pectus carinatum;HP:0003202|Skeletal muscle atrophy
neuroectodermal-endocrine syndrome	HP:0000044|Hypogonadotrophic hypogonadism;HP:0001256|Intellectual disability, mild;HP:0005978|Type II diabetes mellitus;HP:0008619|Bilateral sensorineural hearing impairment;HP:0001596|Alopecia;HP:0000842|Hyperinsulinemia;HP:0040189|Scaling skin;HP:0002750|Delayed skeletal maturation;HP:0008230|Decreased testosterone in males;HP:0000938|Osteopenia;HP:0008214|Decreased serum estradiol;HP:0000824|Growth hormone deficiency;HP:0000823|Delayed puberty;HP:0003335|Low gonadotropins (secondary hypogonadism);HP:0040171|Decreased serum testosterone level;HP:0000831|Insulin-resistant diabetes mellitus;HP:0001510|Growth delay
dysplastic cortical hyperostosis	HP:0001744|Splenomegaly;HP:0000079|Abnormality of the urinary system;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0002652|Skeletal dysplasia;HP:0009826|Limb undergrowth;HP:0011001|Increased bone mineral density;HP:0002813|Abnormality of limb bone morphology;HP:0004322|Short stature;HP:0000252|Microcephaly;HP:0003103|Abnormal cortical bone morphology;HP:0001561|Polyhydramnios;HP:0002240|Hepatomegaly;HP:0002269|Abnormality of neuronal migration;HP:0001789|Hydrops fetalis
neurodegeneration due to 3-hydroxyisobutyryl-coa hydrolase deficiency	HP:0001252|Muscular hypotonia
distal trisomy 6p	HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0000160|Narrow mouth;HP:0000470|Short neck;HP:0000518|Cataract;HP:0000307|Pointed chin;HP:0000581|Blepharophimosis;HP:0004322|Short stature;HP:0002213|Fine hair;HP:0100818|Long thorax;HP:0000233|Thin vermilion border;HP:0000508|Ptosis;HP:0000079|Abnormality of the urinary system;HP:0000347|Micrognathia;HP:0002007|Frontal bossing;HP:0002101|Abnormal lung lobation;HP:0000126|Hydronephrosis;HP:0000369|Low-set ears;HP:0000486|Strabismus;HP:0002564|Malformation of the heart and great vessels;HP:0000960|Sacral dimple;HP:0008056|Aplasia/Hypoplasia affecting the eye;HP:0009906|Aplasia/Hypoplasia of the earlobes;HP:0001511|Intrauterine growth retardation;HP:0002916|Abnormality of chromosome segregation;HP:0000089|Renal hypoplasia;HP:0009896|Abnormality of the antitragus;HP:0006610|Wide intermamillary distance;HP:0000426|Prominent nasal bridge;HP:0011362|Abnormal hair quantity;HP:0000958|Dry skin;HP:0000499|Abnormality of the eyelashes;HP:0100790|Hernia
short stature - intellectual disability - eye anomalies - cleft lip/palate	HP:0001249|Mental retardation
leukocyte adhesion deficiency, type iii; lad3	HP:0000967|Petechiae;HP:0001974|Leukocytosis;HP:0001744|Splenomegaly;HP:0001872|Platelet abnormalities;HP:0002718|Recurrent pyogenic infections;HP:0001903|Anemia;HP:0001482|Subcutaneous nodule;HP:0012531|Pain;HP:0011002|Osteopetrosis;HP:0100806|Sepsis;HP:0001433|Enlarged liver and spleen;HP:0002733|Abnormal lymph node histology;HP:0001978|Extramedullary hematopoiesis;HP:0001581|Recurrent skin infections;HP:0000421|Bloody nose
lethal chondrodysplasia, moerman type	HP:0004322|Short stature;HP:0001629|Ventricular septal defect;HP:0000592|Blue sclerae;HP:0005930|Abnormality of epiphysis morphology;HP:0004414|Abnormality of the pulmonary artery;HP:0001156|Brachydactyly syndrome;HP:0008678|Renal hypoplasia/aplasia;HP:0000126|Hydronephrosis;HP:0002564|Malformation of the heart and great vessels;HP:0001291|Abnormality of the cranial nerves;HP:0001172|Abnormality of the thumb;HP:0000774|Narrow chest;HP:0000772|Abnormality of the ribs;HP:0000008|Abnormality of female internal genitalia;HP:0000175|Cleft palate;HP:0000256|Macrocephaly;HP:0002650|Scoliosis;HP:0002808|Kyphosis;HP:0001305|Dandy-Walker malformation;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0003422|Vertebral segmentation defect;HP:0002566|Intestinal malrotation;HP:0000944|Abnormality of the metaphyses;HP:0002983|Micromelia;HP:0001561|Polyhydramnios
craniofacial-deafness-hand syndrome; cdhs	HP:0000272|Depressed malar region;HP:0000327|Maxillary micrognathia;HP:0012368|Flat face;HP:0003196|Short nose;HP:0000407|sensorineural hearing loss;HP:0000316|Increased distance between eye sockets;HP:0009487|Ulnar deviation of the hands
craniosynostosis 4; crs4	HP:0000609|Optic nerve hypoplasia;HP:0000272|Depressed malar region;HP:0011755|Ectopic posterior pituitary;HP:0005469|Flat occiput;HP:0003196|Short nose;HP:0004443|Lambdoid suture synostosis;HP:0011325|Sysnostosis of all cranial sutures;HP:0000256|Macrocrania;HP:0011800|Midface, flat;HP:0000316|Increased distance between eye sockets;HP:0000278|Receding lower jaw;HP:0002007|Frontal protruberance;HP:0011220|Prominent forehead;HP:0011327|Posterior plagiocephaly
van regemorter-pierquin-vamos syndrome	HP:0000028|Cryptorchidism;HP:0000160|Narrow mouth;HP:0000464|Abnormality of the neck;HP:0000238|Hydrocephalus;HP:0000233|Thin vermilion border;HP:0002645|Wormian bones;HP:0000337|Broad forehead;HP:0008736|Hypoplasia of penis;HP:0000047|Hypospadias;HP:0008678|Renal hypoplasia/aplasia;HP:0000347|Micrognathia;HP:0006101|Finger syndactyly;HP:0000126|Hydronephrosis;HP:0010772|Anomalous pulmonary venous return;HP:0000316|Hypertelorism;HP:0001643|Patent ductus arteriosus;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0000772|Abnormality of the ribs;HP:0002714|Downturned corners of mouth;HP:0000271|Abnormality of the face;HP:0000494|Downslanted palpebral fissures;HP:0003312|Abnormal form of the vertebral bodies;HP:0001622|Premature birth;HP:0000648|Optic atrophy;HP:0004209|Clinodactyly of the 5th finger;HP:0000322|Short philtrum;HP:0001626|Abnormality of the cardiovascular system;HP:0000499|Abnormality of the eyelashes;HP:0002086|Abnormality of the respiratory system;HP:0007328|Impaired pain sensation;HP:0000174|Abnormality of the palate;HP:0001252|Muscular hypotonia;HP:0001231|Abnormality of the fingernails;HP:0001671|Abnormality of the cardiac septa;HP:0009882|Short distal phalanx of finger;HP:0001561|Polyhydramnios
isolated klippel-feil syndrome	HP:0000470|Short neck;HP:0003043|Abnormality of the shoulder;HP:0002023|Anal atresia;HP:0005640|Abnormal vertebral segmentation and fusion;HP:0100543|Cognitive impairment;HP:0001629|Ventricular septal defect;HP:0000365|Hearing impairment;HP:0000912|Sprengel anomaly;HP:0008678|Renal hypoplasia/aplasia;HP:0002564|Malformation of the heart and great vessels;HP:0000465|Webbed neck;HP:0001291|Abnormality of the cranial nerves;HP:0000772|Abnormality of the ribs;HP:0004374|Hemiplegia/hemiparesis;HP:0002414|Spina bifida;HP:0000925|Abnormality of the vertebral column;HP:0000324|Facial asymmetry;HP:0000175|Cleft palate;HP:0005107|Abnormality of the sacrum;HP:0002650|Scoliosis;HP:0004602|Cervical vertebral fusion (C2/C3);HP:0005988|Congenital muscular torticollis;HP:0002162|Low posterior hairline;HP:0004397|Ectopic anus
short stature due to primary acid-labile subunit deficiency	HP:0000347|Micrognathia;HP:0000855|Insulin resistance;HP:0002750|Delayed skeletal maturation;HP:0001956|Truncal obesity;HP:0000823|Delayed puberty;HP:0030353|Decreased serum insulin-like growth factor 1;HP:0001510|Growth delay
multiple synostoses syndrome 2; syns2	HP:0009702|Fused carpal bones;HP:0008368|Tarsal fusions;HP:0000445|Broad nose;HP:0002948|Fusion of vertebral bodies;HP:0003041|Humeral radial synostosis;HP:0009700|Fused finger bones
epimetaphyseal skeletal dysplasia	HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0009836|Broad distal phalanx of finger;HP:0000457|Depressed nasal ridge;HP:0000256|Macrocephaly;HP:0000348|High forehead;HP:0001288|Gait disturbance;HP:0002652|Skeletal dysplasia;HP:0003307|Hyperlordosis;HP:0004322|Short stature;HP:0003272|Abnormality of the hip bone;HP:0002992|Abnormality of the tibia;HP:0000337|Broad forehead;HP:0001252|Muscular hypotonia;HP:0005930|Abnormality of epiphysis morphology;HP:0000431|Wide nasal bridge;HP:0000944|Abnormality of the metaphyses;HP:0002983|Micromelia;HP:0009882|Short distal phalanx of finger;HP:0001156|Brachydactyly syndrome
estrogen resistance syndrome	HP:0001061|Acne;HP:0000786|Primary amenorrhea;HP:0003117|Abnormality of circulating hormone level;HP:0002663|Delayed epiphyseal ossification;HP:0000098|Tall stature;HP:0030087|Abnormal testosterone level;HP:0100133|Abnormality of the pubic hair;HP:0000837|Increased circulating gonadotropin level;HP:0010679|Elevated tissue non-specific alkaline phosphatase;HP:0002574|Episodic abdominal pain;HP:0001548|Overgrowth;HP:0004929|Coronary atherosclerosis;HP:0000013|Hypoplasia of the uterus;HP:0000834|Abnormality of the adrenal glands;HP:0000833|Glucose intolerance;HP:0003187|Breast hypoplasia;HP:0000842|Hyperinsulinemia;HP:0000938|Osteopenia;HP:0008187|Absence of secondary sex characteristics;HP:0000939|Osteoporosis;HP:0008197|Absence of pubertal development;HP:0008675|Enlarged polycystic ovaries;HP:0000956|Acanthosis nigricans;HP:0003799|Marked delay in bone age
toxin-mediated infectious botulism	HP:0003470|Paralysis;HP:0002094|Dyspnea;HP:0011499|Mydriasis;HP:0001324|Muscle weakness;HP:0002015|Dysphagia;HP:0100021|Cerebral palsy;HP:0002019|Constipation;HP:0002747|Respiratory insufficiency due to muscle weakness;HP:0006597|Diaphragmatic paralysis;HP:0006824|Cranial nerve paralysis;HP:0000651|Diplopia;HP:0000508|Ptosis
linear verrucous nevus syndrome	HP:0000518|Cataract;HP:0001268|Mental deterioration;HP:0002119|Ventriculomegaly;HP:0001770|Toe syndactyly;HP:0000929|Abnormality of the skull;HP:0000481|Abnormality of the cornea;HP:0002652|Skeletal dysplasia;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0000486|Strabismus;HP:0002816|Genu recurvatum;HP:0009592|Astrocytoma;HP:0010049|Short metacarpal;HP:0000612|Iris coloboma;HP:0000962|Hyperkeratosis;HP:0001250|Seizures;HP:0008060|Aplasia/Hypoplasia of the fovea;HP:0000256|Macrocephaly;HP:0012500|Verrucous papule;HP:0000077|Abnormality of the kidney;HP:0002650|Scoliosis;HP:0002209|Sparse scalp hair;HP:0001305|Dandy-Walker malformation;HP:0001883|Talipes;HP:0000488|Retinopathy;HP:0004349|Reduced bone mineral density;HP:0100006|Neoplasm of the central nervous system;HP:0002148|Hypophosphatemia
microphthalmia, syndromic 8; mcops8	HP:0000028|Cryptorchidism;HP:0000303|Increased size of lower jaw;HP:0100678|Premature skin wrinkling;HP:0000252|Small head circumference;HP:0000581|Blepharophimosis;HP:0012745|Decreased height of palpebral fissure;HP:0000568|Abnormally small globe of eye;HP:0000204|Cleft upper lip;HP:0001839|Foot ectrodactyly;HP:0000202|Oral clefting;HP:0001566|Wide gap between upper central incisors;HP:0000175|Palatoschisis;HP:0001249|Mental retardation;HP:0000482|Microcornea
nephronophthisis-like nephropathy 1; nphpl1	HP:0001250|Seizures;HP:0003774|End-stage renal failure;HP:0100702|Arachnoid cyst;HP:0000092|Tubular atrophy;HP:0006280|Chronic pancreas inflammation;HP:0000090|juvenile nephronophthisis;HP:0000822|Hypertension;HP:0000407|sensorineural hearing loss;HP:0005583|Disintegration of the tubular basement membrane;HP:0001737|Pancreatic cysts;HP:0001249|Mental retardation;HP:0000108|Renal corticomedullary cystic disease
distal trisomy 14q	HP:0002916|Abnormality of chromosome segregation;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0002101|Abnormal lung lobation;HP:0100543|Cognitive impairment;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0001643|Patent ductus arteriosus;HP:0010935|Abnormality of the upper urinary tract;HP:0000501|Glaucoma;HP:0001679|Abnormality of the aorta
autosomal dominant trichoodontoonychodysplasia-syndactyly	HP:0002552|Trichodysplasia;HP:0006101|Finger syndactyly;HP:0011362|Abnormal hair quantity;HP:0001163|Abnormality of the metacarpal bones;HP:0000164|Abnormality of the teeth;HP:0001760|Abnormality of the foot
epiphyseal dysplasia, multiple, 1; edm1	HP:0001387|Stiff joints;HP:0002515|Waddling gait;HP:0003502|Mild short stature;HP:0010049|Metacarpal hypoplasia;HP:0100864|Short femoral necks;HP:0009803|Hypoplastic/small phalanges of the hand;HP:0003300|Oval vertebral bodies;HP:0006429|Broadening of femoral neck;HP:0008873|Dwarfism, short-limbed;HP:0002857|Genu valgum;HP:0010585|Small end part of bone;HP:0008843|Hip osteoarthritis;HP:0002663|Delayed opacification of the epiphyses;HP:0002656|Epiphyseal dysplasia;HP:0005743|Perthes-like femoral head changes;HP:0002761|Increased joint mobility;HP:0008800|Limited hip movement;HP:0010582|Irregular epiphyses;HP:0003301|vertebral endplate irregularity
maternal hyperthermia induced birth defects	HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0011800|Midface retrusion;HP:0000175|Cleft palate;HP:0007598|Bilateral single transverse palmar creases;HP:0001387|Joint stiffness;HP:0004322|Short stature;HP:0100543|Cognitive impairment;HP:0000252|Microcephaly;HP:0008056|Aplasia/Hypoplasia affecting the eye;HP:0001252|Muscular hypotonia;HP:0001511|Intrauterine growth retardation;HP:0004209|Clinodactyly of the 5th finger;HP:0001276|Hypertonia;HP:0008736|Hypoplasia of penis;HP:0002269|Abnormality of neuronal migration
striatal degeneration, autosomal dominant; adsd	HP:0002067|Bradykinesia;HP:0001288|Gait disturbance;HP:0002063|Muscle rigidity;HP:0002075|Dysdiadochokinesis;HP:0040140|Degeneration of the striatum;HP:0002375|Decreased spontaneous movement;HP:0002395|Hyperreflexia in the lower limbs;HP:0001260|Dysarthric speech;HP:0007039|Symmetric lesions of the basal ganglia
aminopterin/methotrexate embryofetopathy	HP:0000520|Proptosis;HP:0004322|Short stature;HP:0001629|Ventricular septal defect;HP:0001360|Holoprosencephaly;HP:0000238|Hydrocephalus;HP:0001696|Situs inversus totalis;HP:0004935|Pulmonary artery atresia;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0000347|Micrognathia;HP:0006101|Finger syndactyly;HP:0002652|Skeletal dysplasia;HP:0000303|Mandibular prognathia;HP:0002983|Micromelia;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0000316|Hypertelorism;HP:0001636|Tetralogy of Fallot;HP:0001511|Intrauterine growth retardation;HP:0002435|Meningocele;HP:0100335|Non-midline cleft lip;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0010301|Spinal dysraphism;HP:0000252|Microcephaly;HP:0003027|Mesomelia;HP:0000431|Wide nasal bridge;HP:0001792|Small nail;HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0001883|Talipes;HP:0000368|Low-set, posteriorly rotated ears;HP:0002084|Encephalocele;HP:0009891|Underdeveloped supraorbital ridges;HP:0001231|Abnormality of the fingernails;HP:0002323|Anencephaly
microcephalic osteodysplastic dysplasia, saul-wilson type	HP:0000520|Proptosis;HP:0011833|Overhanging nasal tip;HP:0002007|Frontal bossing;HP:0000518|Cataract;HP:0000926|Platyspondyly;HP:0004322|Short stature;HP:0000444|Convex nasal ridge;HP:0000252|Microcephaly;HP:0001762|Talipes equinovarus;HP:0004582|Irregularity of vertebral bodies;HP:0010230|Cone-shaped epiphyses of the phalanges of the hand;HP:0000272|Malar flattening;HP:0000446|Narrow nasal bridge;HP:0004279|Short palm;HP:0003311|Hypoplasia of the odontoid process;HP:0200055|Small hand
spastic paralysis, infantile-onset ascending; iahsp	HP:0001771|Tight achilles tendon;HP:0000514|Slow eye movements;HP:0002445|Paralysis of all four limbs;HP:0001347|Hyperreflexia;HP:0001761|Pes cavus;HP:0001258|Spastic paraplegia, lower limb;HP:0002510|Spastic quadriplegia;HP:0002650|Scoliosis;HP:0002492|Abnormality of the corticospinal tract;HP:0000478|Abnormal eye;HP:0005216|Chewing difficulties;HP:0003487|Extensor plantar reflexes;HP:0002425|Anarthria;HP:0001324|Muscular weakness;HP:0000020|Bladder incontinence;HP:0001260|Dysarthric speech;HP:0002366|Lower motor neuron disease;HP:0001270|Motor retardation;HP:0000271|Abnormal face
autosomal dominant coarctation of aorta	HP:0004383|Hypoplastic left heart;HP:0001643|Patent ductus arteriosus;HP:0012303|Abnormality of the aortic arch;HP:0001629|Ventricular septal defect;HP:0005113|Dilatation of the aortic arch
spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	HP:0000175|Cleft palate;HP:0002812|Coxa vara;HP:0003300|Ovoid vertebral bodies;HP:0002652|Skeletal dysplasia;HP:0003312|Abnormal form of the vertebral bodies;HP:0003307|Hyperlordosis;HP:0004322|Short stature;HP:0010306|Short thorax;HP:0000545|Myopia;HP:0002758|Osteoarthritis;HP:0005930|Abnormality of epiphysis morphology;HP:0000926|Platyspondyly;HP:0000944|Abnormality of the metaphyses;HP:0008905|Rhizomelia
distal monosomy 13q	HP:0001155|Abnormality of the hand;HP:0002023|Anal atresia;HP:0100543|Cognitive impairment;HP:0004322|Short stature;HP:0001360|Holoprosencephaly;HP:0008678|Renal hypoplasia/aplasia;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0000316|Hypertelorism;HP:0008056|Aplasia/Hypoplasia affecting the eye;HP:0000062|Ambiguous genitalia;HP:0001276|Hypertonia;HP:0000612|Iris coloboma;HP:0003312|Abnormal form of the vertebral bodies;HP:0001163|Abnormality of the metacarpal bones;HP:0000252|Microcephaly;HP:0000648|Optic atrophy;HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0002084|Encephalocele;HP:0008207|Primary adrenal insufficiency;HP:0100589|Urogenital fistula;HP:0001671|Abnormality of the cardiac septa;HP:0002323|Anencephaly
autosomal recessive multiple pterygium syndrome	HP:0000157|Abnormality of the tongue;HP:0000028|Cryptorchidism;HP:0002089|Pulmonary hypoplasia;HP:0000492|Abnormality of the eyelid;HP:0000307|Pointed chin;HP:0004322|Short stature;HP:0100543|Cognitive impairment;HP:0001059|Pterygium;HP:0000365|Hearing impairment;HP:0000218|High palate;HP:0001376|Limitation of joint mobility;HP:0012718|Morphological abnormality of the gastrointestinal tract;HP:0000767|Pectus excavatum;HP:0000508|Ptosis;HP:0000766|Abnormality of the sternum;HP:0000135|Hypogonadism;HP:0001724|Aortic dilatation;HP:0002643|Neonatal respiratory distress;HP:0008736|Hypoplasia of penis;HP:0011842|Abnormality of skeletal morphology;HP:0000347|Micrognathia;HP:0006101|Finger syndactyly;HP:0008729|Absence of labia majora;HP:0000506|Telecanthus;HP:0001537|Umbilical hernia;HP:0000369|Low-set ears;HP:0002564|Malformation of the heart and great vessels;HP:0000276|Long face;HP:0000486|Strabismus;HP:0000465|Webbed neck;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0003298|Spina bifida occulta;HP:0010318|Aplasia/Hypoplasia of the abdominal wall musculature;HP:0001511|Intrauterine growth retardation;HP:0002804|Arthrogryposis multiplex congenita;HP:0001060|Axillary pterygia;HP:0000494|Downslanted palpebral fissures;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0000324|Facial asymmetry;HP:0001288|Gait disturbance;HP:0001646|Abnormality of the aortic valve;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0001040|Multiple pterygia;HP:0100022|Abnormality of movement;HP:0000046|Scrotal hypoplasia;HP:0001508|Failure to thrive;HP:0003764|Nevus;HP:0000902|Rib fusion;HP:0000268|Dolichocephaly;HP:0001760|Abnormality of the foot;HP:0000023|Inguinal hernia;HP:0000405|Conductive hearing impairment;HP:0000202|Oral cleft;HP:0002162|Low posterior hairline;HP:0003422|Vertebral segmentation defect;HP:0009760|Antecubital pterygium;HP:0000364|Hearing abnormality;HP:0009773|Symphalangism affecting the phalanges of the hand;HP:0100490|Camptodactyly of finger;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0009756|Popliteal pterygium;HP:0003202|Skeletal muscle atrophy
interstitial granulomatous dermatitis with arthritis	HP:0010783|Erythema;HP:0003565|Elevated erythrocyte sedimentation rate;HP:0002923|Rheumatoid factor positive;HP:0011123|Inflammatory abnormality of the skin;HP:0011227|Elevated C-reactive protein level;HP:0000989|Pruritus;HP:0200034|Papule;HP:0001370|Rheumatoid arthritis
internal carotid agenesis	HP:0100702|Arachnoid cyst;HP:0002138|Subarachnoid hemorrhage;HP:0002637|Cerebral ischemia;HP:0002315|Headache;HP:0004944|Cerebral aneurysm
osteosclerosis - ichthyosis - premature ovarian failure	HP:0008209|Premature ovarian failure
17q21.31 microduplication  syndrome	HP:0001263|Global developmental delay;HP:0000356|Abnormality of the outer ear;HP:0003196|Short nose;HP:0000722|Obsessive-compulsive behavior;HP:0001770|Toe syndactyly;HP:0000218|High palate;HP:0000347|Micrognathia;HP:0001852|Sandal gap;HP:0000164|Abnormality of the teeth;HP:0000574|Thick eyebrow;HP:0000286|Epicanthus;HP:0000729|Autistic behavior;HP:0000252|Microcephaly;HP:0000664|Synophrys;HP:0001508|Failure to thrive;HP:0000272|Malar flattening;HP:0000823|Delayed puberty;HP:0002230|Generalized hirsutism;HP:0004209|Clinodactyly of the 5th finger;HP:0007018|Attention deficit hyperactivity disorder;HP:0001249|Intellectual disability;HP:0000322|Short philtrum;HP:0000717|Autism;HP:0000463|Anteverted nares;HP:0001252|Muscular hypotonia
embryonary disorganization syndrome	HP:0001155|Abnormality of the hand;HP:0006101|Finger syndactyly;HP:0003422|Vertebral segmentation defect;HP:0002566|Intestinal malrotation;HP:0000795|Abnormality of the urethra;HP:0002084|Encephalocele;HP:0009775|Amniotic constriction ring;HP:0100589|Urogenital fistula;HP:0000772|Abnormality of the ribs;HP:0000055|Abnormality of female external genitalia;HP:0008069|Neoplasm of the skin;HP:0009756|Popliteal pterygium;HP:0009882|Short distal phalanx of finger;HP:0001156|Brachydactyly syndrome
symmetrical thalamic calcifications	HP:0002353|EEG abnormality;HP:0001257|Spasticity;HP:0001250|Seizures;HP:0001251|Ataxia;HP:0002093|Respiratory insufficiency;HP:0100543|Cognitive impairment;HP:0001608|Abnormality of the voice;HP:0000252|Microcephaly;HP:0011675|Arrhythmia;HP:0001612|Weak cry;HP:0002514|Cerebral calcification;HP:0001508|Failure to thrive;HP:0001315|Reduced tendon reflexes;HP:0002269|Abnormality of neuronal migration;HP:0001276|Hypertonia;HP:0001561|Polyhydramnios
mu-heavy chain disease	HP:0010975|Abnormality of B cell number;HP:0002716|Lymphadenopathy;HP:0001744|Splenomegaly;HP:0005561|Abnormality of bone marrow cell morphology;HP:0010702|Increased antibody level in blood;HP:0030156|Bence Jones Proteinuria;HP:0000939|Osteoporosis;HP:0000112|Nephropathy;HP:0001824|Weight loss;HP:0001945|Fever;HP:0002240|Hepatomegaly;HP:0002797|Osteolysis;HP:0001903|Anemia
epiphyseal dysplasia, multiple, 5; edm5	HP:0003088|Premature arthritis;HP:0100864|Short femoral necks;HP:0002812|Coxa vara;HP:0002654|Multiple epiphyseal dysplasia;HP:0006429|Broadening of femoral neck;HP:0001216|Delayed maturation of carpal bones;HP:0010585|Small end part of bone;HP:0003365|Coxalgia;HP:0002656|Epiphyseal dysplasia;HP:0003090|Hypoplasia of the capital femoral epiphysis;HP:0003025|Frayed, irregular metaphyses;HP:0002857|Genu valgum;HP:0008103|Delayed tarsal ossification;HP:0010582|Irregular epiphyses;HP:0002829|Arthralgias
hereditary continuous muscle fiber activity	HP:0001250|Seizures;HP:0001251|Ataxia;HP:0003236|Elevated serum creatine phosphokinase;HP:0002064|Spastic gait;HP:0003457|EMG abnormality;HP:0001350|Slurred speech;HP:0100022|Abnormality of movement;HP:0003803|Type 1 muscle fiber predominance;HP:0001260|Dysarthria;HP:0000776|Congenital diaphragmatic hernia
oculo-skeletal-renal syndrome	HP:0007703|Abnormality of retinal pigmentation;HP:0003067|Madelung deformity;HP:0000582|Upslanted palpebral fissure;HP:0008388|Abnormality of the toenails;HP:0000091|Abnormality of the renal tubule;HP:0002983|Micromelia;HP:0004322|Short stature;HP:0001163|Abnormality of the metacarpal bones;HP:0000545|Myopia;HP:0000822|Hypertension;HP:0000483|Astigmatism;HP:0100745|Abnormality of the humeroulnar joint;HP:0001156|Brachydactyly syndrome;HP:0000268|Dolichocephaly;HP:0004097|Deviation of finger;HP:0000093|Proteinuria;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0000405|Conductive hearing impairment;HP:0000083|Renal insufficiency
beta-thalassemia associated with another hemoglobin anomaly	HP:0001744|Splenomegaly;HP:0001878|Hemolytic anemia;HP:0011902|Abnormal hemoglobin;HP:0001971|Hypersplenism;HP:0001903|Anemia;HP:0001935|Microcytic anemia
congenital pulmonary veins atresia or stenosis	HP:0002564|Malformation of the heart and great vessels;HP:0000822|Hypertension;HP:0001671|Abnormality of the cardiac septa;HP:0002093|Respiratory insufficiency
x-linked intellectual disability, stevenson type	HP:0001263|Global developmental delay;HP:0010864|Intellectual disability, severe;HP:0001176|Large hands;HP:0007477|Abnormal dermatoglyphics;HP:0010761|Broad columella;HP:0000098|Tall stature;HP:0001833|Long foot;HP:0002342|Intellectual disability, moderate;HP:0010804|Tented upper lip vermilion;HP:0000574|Thick eyebrow;HP:0011968|Feeding difficulties;HP:0001284|Areflexia;HP:0001182|Tapered finger;HP:0001999|Abnormal facial shape;HP:0009928|Thick nasal alae;HP:0002857|Genu valgum;HP:0000691|Microdontia;HP:0001513|Obesity;HP:0000377|Abnormality of the pinna;HP:0001252|Muscular hypotonia;HP:0000391|Thickened helices;HP:0100540|Palpebral edema
10q22.3q23.3 microduplication syndrome	HP:0001263|Global developmental delay;HP:0000288|Abnormality of the philtrum;HP:0000601|Hypotelorism;HP:0000337|Broad forehead;HP:0000047|Hypospadias;HP:0000490|Deeply set eye;HP:0000582|Upslanted palpebral fissure;HP:0002564|Malformation of the heart and great vessels;HP:0000369|Low-set ears;HP:0000486|Strabismus;HP:0000164|Abnormality of the teeth;HP:0001636|Tetralogy of Fallot;HP:0000772|Abnormality of the ribs;HP:0000062|Ambiguous genitalia;HP:0000889|Abnormality of the clavicle;HP:0000293|Full cheeks;HP:0000252|Microcephaly;HP:0000389|Chronic otitis media;HP:0001249|Intellectual disability;HP:0002357|Dysphasia;HP:0000308|Microretrognathia;HP:0002381|Aphasia
non-distal trisomy 13q	HP:0000028|Cryptorchidism;HP:0003196|Short nose;HP:0100543|Cognitive impairment;HP:0001166|Arachnodactyly;HP:0000601|Hypotelorism;HP:0000233|Thin vermilion border;HP:0000243|Trigonocephaly;HP:0000218|High palate;HP:0000232|Everted lower lip vermilion;HP:0000347|Micrognathia;HP:0000343|Long philtrum;HP:0001162|Postaxial hand polydactyly;HP:0000164|Abnormality of the teeth;HP:0008056|Aplasia/Hypoplasia affecting the eye;HP:0000574|Thick eyebrow;HP:0000774|Narrow chest;HP:0009906|Aplasia/Hypoplasia of the earlobes;HP:0001028|Hemangioma;HP:0002916|Abnormality of chromosome segregation;HP:0009738|Abnormality of the antihelix;HP:0000252|Microcephaly;HP:0000664|Synophrys;HP:0006610|Wide intermamillary distance;HP:0001800|Hypoplastic toenails;HP:0000499|Abnormality of the eyelashes;HP:0100790|Hernia;HP:0001231|Abnormality of the fingernails
symbrachydactyly of hands and feet	HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0006501|Aplasia/Hypoplasia of the radius;HP:0003422|Vertebral segmentation defect;HP:0003063|Abnormality of the humerus;HP:0002650|Scoliosis;HP:0009800|Maternal diabetes;HP:0100745|Abnormality of the humeroulnar joint;HP:0002997|Abnormality of the ulna
x-linked neurodegenerative syndrome, bertini type	HP:0001263|Global developmental delay;HP:0001274|Agenesis of corpus callosum;HP:0001251|Ataxia;HP:0000608|Macular degeneration;HP:0001522|Death in infancy;HP:0006538|Recurrent bronchopulmonary infections;HP:0001290|Generalized hypotonia;HP:0002123|Generalized myoclonic seizures;HP:0200134|Epileptic encephalopathy;HP:0001249|Intellectual disability
x-linked intellectual disability, wittwer type	HP:0001510|Growth deficiency;HP:0001249|Mental retardation
progeroid syndrome, petty type	HP:0004322|Short stature;HP:0002299|Brittle hair;HP:0007495|Prematurely aged appearance;HP:0007477|Abnormal dermatoglyphics;HP:0000232|Everted lower lip vermilion;HP:0000337|Broad forehead;HP:0000303|Mandibular prognathia;HP:0007740|Long eyelashes in irregular rows;HP:0000973|Cutis laxa;HP:0001537|Umbilical hernia;HP:0000486|Strabismus;HP:0009721|Shagreen patch;HP:0000574|Thick eyebrow;HP:0001511|Intrauterine growth retardation;HP:0001002|Decreased subcutaneous fat;HP:0100578|Lipoatrophy;HP:0004331|Decreased skull ossification;HP:0000286|Epicanthus;HP:0000260|Wide anterior fontanel;HP:0008070|Sparse hair;HP:0001508|Failure to thrive;HP:0002230|Generalized hirsutism;HP:0001595|Abnormality of the hair;HP:0001597|Abnormality of the nail;HP:0001582|Redundant skin;HP:0000368|Low-set, posteriorly rotated ears;HP:0009804|Reduced number of teeth;HP:0009882|Short distal phalanx of finger
congenital muscular dystrophy due to lmna mutation	HP:0001263|Global developmental delay;HP:0003306|Spinal rigidity;HP:0002421|Poor head control;HP:0003198|Myopathy;HP:0001376|Limitation of joint mobility;HP:0001635|Congestive heart failure;HP:0003327|Axial muscle weakness;HP:0001371|Flexion contracture;HP:0003307|Hyperlordosis;HP:0005692|Joint hyperflexibility;HP:0001522|Death in infancy;HP:0000774|Narrow chest;HP:0011968|Feeding difficulties;HP:0001288|Gait disturbance;HP:0002093|Respiratory insufficiency;HP:0003457|EMG abnormality;HP:0011675|Arrhythmia;HP:0004326|Cachexia;HP:0001883|Talipes;HP:0001558|Decreased fetal movement;HP:0001252|Muscular hypotonia;HP:0003202|Skeletal muscle atrophy
non-distal monosomy 10q	HP:0000286|Epicanthus;HP:0000582|Upslanted palpebral fissure;HP:0007598|Bilateral single transverse palmar creases;HP:0001251|Ataxia;HP:0001288|Gait disturbance;HP:0010557|Overlapping fingers;HP:0100543|Cognitive impairment;HP:0000486|Strabismus;HP:0004422|Biparietal narrowing;HP:0000664|Synophrys;HP:0001252|Muscular hypotonia;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0000508|Ptosis;HP:0001156|Brachydactyly syndrome
autoimmune hemolytic anemia, cold type	HP:0001744|Splenomegaly;HP:0002094|Dyspnea;HP:0001324|Muscle weakness;HP:0012378|Fatigue;HP:0002960|Autoimmunity;HP:0001878|Hemolytic anemia;HP:0000980|Pallor;HP:0001881|Abnormality of leukocytes
natal teeth - intestinal pseudoobstruction - patent ductus	HP:0000695|Natal teeth
lymphedema and cerebral arteriovenous anomaly	HP:0100659|Abnormality of the cerebral vasculature;HP:0001004|Lymphatic obstruction;HP:0002092|Pulmonary artery hypertension
arthrogryposis - hyperkeratosis, lethal form	HP:0002804|Arthrogryposis multiplex congenita
epiphyseal dysplasia, multiple, 3; edm3	HP:0003701|Proximal limb muscle weakness;HP:0010049|Metacarpal hypoplasia;HP:0003502|Mild short stature;HP:0001384|Abnormality of the hip joint;HP:0010585|Small end part of bone;HP:0008180|Mildly increased creatine kinase;HP:0002656|Epiphyseal dysplasia;HP:0002663|Delayed opacification of the epiphyses;HP:0002758|Osteoarthritis;HP:0010582|Irregular epiphyses
triopia	HP:0000175|Cleft palate;HP:0000324|Facial asymmetry;HP:0000615|Abnormality of the pupil;HP:0000256|Macrocephaly;HP:0002007|Frontal bossing;HP:0000161|Median cleft lip;HP:0000581|Blepharophimosis;HP:0001601|Laryngomalacia;HP:0000951|Abnormality of the skin;HP:0000316|Hypertelorism;HP:0000235|Abnormality of the fontanelles or cranial sutures;HP:0002084|Encephalocele;HP:0001561|Polyhydramnios;HP:0100629|Midline facial cleft;HP:0000268|Dolichocephaly;HP:0000534|Abnormality of the eyebrow;HP:0000612|Iris coloboma;HP:0000482|Microcornea
chondrodysplasia, blomstrand type; bocd	HP:0008108|Precociously ossified tarsal bones;HP:0005789|Generalized osteosclerosis;HP:0004233|Advanced carpal ossification;HP:0000272|Depressed malar region;HP:0000773|Rib hypoplasia;HP:0000347|Hypoplasia of mandible;HP:0008754|Laryngeal calcification;HP:0005616|Early bone maturation;HP:0001622|Premature delivery;HP:0003177|Squaring of iliac bones;HP:0003015|Metaphyseal splaying;HP:0001561|Hydramnios;HP:0002983|Micromelia;HP:0001789|Hydrops fetalis
symptomatic form of coffin-lowry syndrome in female carriers	HP:0001250|Seizures;HP:0007302|Bipolar affective disorder;HP:0001513|Obesity;HP:0002007|Frontal bossing;HP:0000768|Pectus carinatum;HP:0002564|Malformation of the heart and great vessels;HP:0004322|Short stature;HP:0000674|Anodontia;HP:0002650|Scoliosis;HP:0000316|Hypertelorism;HP:0000716|Depression;HP:0000709|Psychosis;HP:0001176|Large hands;HP:0001182|Tapered finger;HP:0002808|Kyphosis;HP:0001252|Muscular hypotonia;HP:0000232|Everted lower lip vermilion;HP:0000767|Pectus excavatum;HP:0000445|Wide nose;HP:0000677|Oligodontia;HP:0000494|Downslanted palpebral fissures
8p23.1 duplication syndrome	HP:0000750|Late-onset speech development;HP:0001263|Global developmental delay;HP:0002463|Language impairment;HP:0000490|Deeply set eye;HP:0002553|Highly arched eyebrow;HP:0012471|Thick vermilion border;HP:0000126|Hydronephrosis;HP:0002564|Malformation of the heart and great vessels;HP:0001629|Ventricular septal defect;HP:0100777|Exostoses;HP:0000365|Hearing impairment;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0000846|Adrenal insufficiency;HP:0001636|Tetralogy of Fallot;HP:0001770|Toe syndactyly;HP:0001642|Pulmonic stenosis;HP:0000445|Wide nose;HP:0001249|Mental retardation;HP:0001249|Intellectual disability
partial acquired lipodystrophy	HP:0002829|Arthralgia;HP:0001250|Seizures;HP:0100820|Glomerulopathy;HP:0002721|Immunodeficiency;HP:0000855|Insulin resistance;HP:0005421|Decreased serum complement C3;HP:0000365|Hearing impairment;HP:0002960|Autoimmunity;HP:0100827|Lymphocytosis;HP:0003198|Myopathy;HP:0005328|Progeroid facial appearance;HP:0100578|Lipoatrophy;HP:0001397|Hepatic steatosis;HP:0002230|Generalized hirsutism;HP:0000093|Proteinuria;HP:0002907|Microscopic hematuria;HP:0001249|Intellectual disability
systemic lupus erythematosus, susceptibility to, 6; sleb6	HP:0002725|Systemic lupus erythematosus
metaphyseal dysplasia with maxillary hypoplasia and brachydactyly	HP:0000322|Short philtrum;HP:0004220|Hypoplastic middle phalanx of the 5th finger;HP:0004322|Stature below 3rd percentile;HP:0000327|Maxillary micrognathia;HP:0006480|Premature loss of teeth;HP:0000233|Decreased volume of lip vermillion;HP:0005625|Osteoporosis of vertebrae;HP:0000444|Polly beak nasal deformity;HP:0009577|Hypoplastic middle index finger phalanx;HP:0005877|Multiple small vertebral fractures;HP:0100255|Metaphyseal dysplasia;HP:0003015|Metaphyseal splaying;HP:0010047|Hypoplastic 5th metacarpal;HP:0000926|Flattened vertebral bodies
epiphyseal dysplasia, multiple, 2; edm2	HP:0003071|Flattened epiphysis;HP:0002515|Waddling gait;HP:0003502|Mild short stature;HP:0005086|Knee osteoarthritis;HP:0002970|Genu varum;HP:0004279|Hypoplastic hands;HP:0002656|Epiphyseal dysplasia;HP:0010582|Irregular epiphyses
spondylometaphyseal dysplasia with cone-rod dystrophy; smdcrd	HP:0000639|Nystagmus;HP:0010049|Metacarpal hypoplasia;HP:0000689|Misalignment of upper and lower dental arches;HP:0008905|Rhizomelic short limbs;HP:0003300|Oval vertebral bodies;HP:0008821|Hypoplastic inferior ilia;HP:0002980|Bowed femura;HP:0004565|Severe platyspondyly;HP:0001387|Stiff joints;HP:0000529|Slowly progressive visual loss;HP:0008897|Growth retardation as children;HP:0003375|Narrow sacrosciatic notch;HP:0003025|Frayed, irregular metaphyses;HP:0002657|Spondylometaphyseal dysplasia;HP:0003016|Wide metaphyses;HP:0002982|Bowed tibia;HP:0009381|Hypoplastic fingers;HP:0002650|Scoliosis;HP:0000403|Otitis media, recurrent;HP:0000887|Cupped ribs;HP:0008002|Abnormality of macular pigmentation;HP:0002812|Coxa vara;HP:0003021|Metaphyseal cupping;HP:0000548|Cone rod dystrophy;HP:0001156|Brachydactyly
autosomal dominant striatal neurodegeneration	HP:0002067|Bradykinesia;HP:0001288|Gait disturbance;HP:0002075|Dysdiadochokinesis;HP:0002015|Dysphagia;HP:0100022|Abnormality of movement;HP:0002063|Rigidity;HP:0001260|Dysarthria
aniridia-intellectual disability syndrome	HP:0000609|Optic nerve hypoplasia;HP:0000518|Cataract;HP:0000526|Aniridia;HP:0001083|Ectopia lentis;HP:0002342|Intellectual disability, moderate
paroxysmal tonic upgaze, benign childhood, with ataxia	HP:0002548|Parkinsonism with favorable response to dopaminergic medication;HP:0001270|Motor retardation;HP:0000464|Anomaly of the neck;HP:0002131|Intermittent cerebellar ataxia;HP:0002312|Clumsiness
distal trisomy 18q	HP:0000028|Cryptorchidism;HP:0000670|Carious teeth;HP:0000470|Short neck;HP:0001263|Global developmental delay;HP:0003196|Short nose;HP:0100543|Cognitive impairment;HP:0010720|Abnormal hair pattern;HP:0000453|Choanal atresia;HP:0001166|Arachnodactyly;HP:0001176|Large hands;HP:0000474|Thickened nuchal skin fold;HP:0000218|High palate;HP:0007477|Abnormal dermatoglyphics;HP:0000767|Pectus excavatum;HP:0008736|Hypoplasia of penis;HP:0007598|Bilateral single transverse palmar creases;HP:0000347|Micrognathia;HP:0002564|Malformation of the heart and great vessels;HP:0006482|Abnormality of dental morphology;HP:0004097|Deviation of finger;HP:0000612|Iris coloboma;HP:0004622|Progressive intervertebral space narrowing;HP:0004209|Clinodactyly of the 5th finger;HP:0000268|Dolichocephaly;HP:0000311|Round face;HP:0000426|Prominent nasal bridge;HP:0000463|Anteverted nares;HP:0000325|Triangular face;HP:0000368|Low-set, posteriorly rotated ears;HP:0100490|Camptodactyly of finger;HP:0000055|Abnormality of female external genitalia
atypical juvenile parkinsonism	HP:0001336|Myoclonus;HP:0012378|Fatigue;HP:0007256|Abnormal pyramidal signs;HP:0012638|Abnormality of nervous system physiology;HP:0007164|Slowed slurred speech;HP:0000338|Hypomimic face;HP:0001332|Dystonia;HP:0002066|Gait ataxia;HP:0001265|Hyporeflexia;HP:0001250|Seizures;HP:0002067|Bradykinesia;HP:0002362|Shuffling gait;HP:0002650|Scoliosis;HP:0100022|Abnormality of movement;HP:0002063|Rigidity;HP:0004305|Involuntary movements;HP:0001621|Weak voice;HP:0002322|Resting tremor;HP:0001761|Pes cavus;HP:0001249|Intellectual disability;HP:0002540|Inability to walk;HP:0008969|Leg muscle stiffness;HP:0012444|Brain atrophy;HP:0002172|Postural instability;HP:0002425|Anarthria;HP:0002304|Akinesia;HP:0007311|Short stepped shuffling gait
o'sullivan-mcleod syndrome	HP:0030237|Hand muscle weakness;HP:0003690|Limb muscle weakness;HP:0003457|EMG abnormality;HP:0002817|Abnormality of the upper limb
crossed polysyndactyly	HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0000582|Upslanted palpebral fissure;HP:0006101|Finger syndactyly;HP:0000356|Abnormality of the outer ear;HP:0000364|Hearing abnormality;HP:0000486|Strabismus;HP:0000288|Abnormality of the philtrum;HP:0001162|Postaxial hand polydactyly;HP:0005280|Depressed nasal bridge;HP:0007477|Abnormal dermatoglyphics;HP:0008736|Hypoplasia of penis
alopecia antibody deficiency	HP:0002721|Immunodeficiency;HP:0011073|Abnormality of dental color;HP:0004322|Short stature;HP:0002167|Neurological speech impairment;HP:0004313|Decreased antibody level in blood;HP:0000499|Abnormality of the eyelashes;HP:0002231|Sparse body hair;HP:0008070|Sparse hair;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0000405|Conductive hearing impairment;HP:0002205|Recurrent respiratory infections
zellweger-like syndrome without peroxisomal anomalies	HP:0001263|Global developmental delay;HP:0010864|Intellectual disability, severe;HP:0000307|Pointed chin;HP:0004322|Short stature;HP:0002299|Brittle hair;HP:0000218|High palate;HP:0000953|Hyperpigmentation of the skin;HP:0000582|Upslanted palpebral fissure;HP:0007598|Bilateral single transverse palmar creases;HP:0002007|Frontal bossing;HP:0001265|Hyporeflexia;HP:0001511|Intrauterine growth retardation;HP:0000286|Epicanthus;HP:0000298|Mask-like facies;HP:0000252|Microcephaly;HP:0001508|Failure to thrive;HP:0002240|Hepatomegaly;HP:0000431|Wide nasal bridge;HP:0001596|Alopecia;HP:0000348|High forehead;HP:0000463|Anteverted nares;HP:0001252|Muscular hypotonia
x-linked intellectual disability, pai type	HP:0000028|Cryptorchidism;HP:0000160|Narrow mouth;HP:0000286|Epicanthus;HP:0000411|Protruding ear;HP:0000034|Hydrocele testis;HP:0000426|Prominent nasal bridge;HP:0001250|Seizures;HP:0001263|Global developmental delay;HP:0001288|Gait disturbance;HP:0002205|Recurrent respiratory infections;HP:0010864|Intellectual disability, severe;HP:0002750|Delayed skeletal maturation;HP:0001182|Tapered finger;HP:0001511|Intrauterine growth retardation;HP:0000023|Inguinal hernia;HP:0001276|Hypertonia;HP:0002510|Spastic tetraplegia;HP:0000750|Delayed speech and language development
griscelli syndrome, type 3; gs3	HP:0004527|Large clumps of pigment irregularly distributed along hair shaft;HP:0002218|Silver-gray hair color;HP:0002227|Pale eyelashes
odontoonychodermal dysplasia; oodd	HP:0000975|Increased sweating;HP:0010783|Erythema;HP:0008070|Thinned hair;HP:0008391|Poor fingernail formation;HP:0001810|Dystrophic toenail;HP:0002209|Scalp hair, thinning;HP:0007556|Plantar hyperkeratoses;HP:0000958|Xerosis;HP:0001798|Anonychia;HP:0006349|Agenesis of permanent dentition;HP:0007410|Excessive sweating of palms and soles;HP:0000535|Thin, sparse eyebrows;HP:0002164|Nail dysplasia;HP:0002231|Sparse body hair;HP:0000966|Decreased sweating;HP:0000613|Extreme light sensitivity;HP:0010298|Smooth tongue;HP:0011359|Dry hair;HP:0000668|Failure of development of between one and six teeth;HP:0006481|Abnormality of baby teeth
roch-leri mesosomatous lipomatosis	HP:0001482|Subcutaneous nodule
methylmalonic acidemia without homocystinuria	HP:0001263|Global developmental delay;HP:0002013|Vomiting;HP:0002240|Hepatomegaly;HP:0000083|Renal insufficiency;HP:0001259|Coma;HP:0001254|Lethargy;HP:0002637|Cerebral ischemia;HP:0001508|Failure to thrive;HP:0001252|Muscular hypotonia;HP:0001944|Dehydration;HP:0002098|Respiratory distress;HP:0001249|Intellectual disability
lowe-kohn-cohen syndrome	HP:0000407|Sensorineural hearing impairment;HP:0002023|Anal atresia;HP:0000112|Nephropathy;HP:0000384|Preauricular skin tag;HP:0012732|Anorectal anomaly
talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals	HP:0008095|Osteolysis of tali;HP:0010044|Shortened 4th long bone of hand;HP:0100769|Synovitis;HP:0006378|Osteolysis of patellae;HP:0006202|Osteolysis of scaphoids
ectopic aldosterone-producing tumor	HP:0008256|Adrenocortical adenoma;HP:0000421|Epistaxis;HP:0011740|Glucocortocoid-insensitive primary hyperaldosteronism;HP:0002018|Nausea;HP:0001324|Muscle weakness;HP:0002900|Hypokalemia;HP:0006735|Renal cortical adenoma;HP:0000822|Hypertension;HP:0200114|Metabolic alkalosis;HP:0000360|Tinnitus;HP:0100615|Ovarian neoplasm;HP:0002315|Headache;HP:0003351|Decreased circulating renin level
congenital unilateral pulmonary hypoplasia	HP:0010772|Anomalous pulmonary venous return;HP:0004414|Abnormality of the pulmonary artery;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0000776|Congenital diaphragmatic hernia
acrocapitofemoral dysplasia; acfd	HP:0010049|Metacarpal hypoplasia;HP:0000767|Funnel chest;HP:0002869|Flared iliac wings;HP:0003300|Oval vertebral bodies;HP:0003498|Disproportionate short stature;HP:0003097|Short femur;HP:0009882|Hypoplastic terminal phalanges;HP:0003099|Fibular overgrowth;HP:0002970|Genu varum;HP:0008873|Dwarfism, short-limbed;HP:0005736|Short tibia;HP:0009638|Short proximal thumb bone;HP:0004482|Macrocephaly, relative;HP:0002938|Exaggerated lumbar lordosis;HP:0004279|Hypoplastic hands;HP:0001821|Broad nail;HP:0003022|Short ulna;HP:0010241|Hypoplasia of the proximal phalanges of the hand;HP:0008789|Cone-shaped capital femoral epiphysis;HP:0006438|Enlargement of the distal femoral epiphysis;HP:0000773|Rib hypoplasia;HP:0001156|Brachydactyly;HP:0002650|Scoliosis;HP:0000774|Low chest circumference;HP:0010017|Cone-shaped epiphysis of the 1st metacarpal;HP:0010575|Dysplasia of the femoral head;HP:0000887|Cupped ribs;HP:0100864|Short femoral necks;HP:0002812|Coxa vara;HP:0001216|Delayed maturation of carpal bones;HP:0002866|Hypoplastic iliac alae;HP:0005792|Short upper arms;HP:0002984|Hypoplastic radius;HP:0000768|Pectus carinatum;HP:0002983|Micromelia
tetragametic chimerism	HP:0000028|Cryptorchidism;HP:0000051|Perineal hypospadias;HP:0000045|Abnormality of the scrotum;HP:0000137|Abnormality of the ovary;HP:0001263|Global developmental delay;HP:0008723|Gonadal dysgenesis with female appearance, male;HP:0010970|Blood group antigen abnormality;HP:0012145|Abnormality of multiple cell lineages in the bone marrow;HP:0001053|Hypopigmented skin patches;HP:0000057|Clitoromegaly;HP:0000062|Ambiguous genitalia;HP:0012861|Ovotestis;HP:0010987|Abnormality of cellular immune system;HP:0000954|Single transverse palmar crease;HP:0000054|Micropenis;HP:0010459|True hermaphroditism;HP:0000048|Bifid scrotum;HP:0000035|Abnormality of the testis
microgastria-limb reduction defects association; mlrd	HP:0002139|Arrhinencephaly;HP:0000028|Cryptorchidism;HP:0002020|Heartburn;HP:0100841|Microgastria;HP:0001274|Absent corpus callosum;HP:0001684|Secundum atrial septal defect;HP:0000800|Renal cystic dysplasia;HP:0002101|Lung segmentation defects;HP:0001746|Absent spleen;HP:0004384|Type I truncus arteriosus;HP:0009829|Phocomelia;HP:0000125|Pelvic kidney;HP:0003022|Short ulna;HP:0000122|Unilateral kidney agenesis;HP:0000528|Absence of eyeballs;HP:0001080|Biliary tract abnormality;HP:0000813|Bicornuate uterus;HP:0001508|Weight faltering;HP:0002251|Hirschsprung megacolon;HP:0010664|Fusion of the left and right thalami;HP:0000085|Horseshoe kidney;HP:0009777|Absent thumbs;HP:0002126|Polymicrogyria;HP:0002566|Intestinal malrotation;HP:0001180|Hand oligodactyly;HP:0002984|Hypoplastic radius;HP:0011467|Aplasia of the gallbladder
arterial dissection with lentiginosis	HP:0001939|Laboratory abnormality;HP:0005294|Arterial dissection;HP:0012180|Arterial cystic medial necrosis;HP:0001003|Multiple lentigines
pili torti - developmental delay - neurological abnormalities	HP:0001263|Developmental retardation
mental retardation, x-linked 98; mrx98	HP:0008936|Truncal hypotonia;HP:0001257|Spasticity;HP:0001250|Seizures;HP:0000311|Round facial shape;HP:0000252|Small head circumference;HP:0005484|Acquired microcephaly;HP:0001263|Developmental retardation;HP:0000322|Short philtrum;HP:0003196|Short nose;HP:0001510|Growth deficiency;HP:0002020|Heartburn;HP:0001508|Weight faltering;HP:0000817|Poor eye contact;HP:0000565|Inward turning of one or both eyes;HP:0002521|Hypsarrhythmia by EEG;HP:0001249|Mental retardation;HP:0000752|Hyperactive behavior
median cleft lip/mandibule	HP:0000161|Median cleft lip
distal monosomy 7q36	HP:0000028|Cryptorchidism;HP:0000470|Short neck;HP:0010978|Abnormality of immune system physiology;HP:0004322|Short stature;HP:0001360|Holoprosencephaly;HP:0100729|Large face;HP:0000767|Pectus excavatum;HP:0008736|Hypoplasia of penis;HP:0000582|Upslanted palpebral fissure;HP:0000347|Micrognathia;HP:0007598|Bilateral single transverse palmar creases;HP:0000154|Wide mouth;HP:0012368|Flat face;HP:0000486|Strabismus;HP:0001276|Hypertonia;HP:0100335|Non-midline cleft lip;HP:0001250|Seizures;HP:0000175|Cleft palate;HP:0000293|Full cheeks;HP:0000252|Microcephaly;HP:0000648|Optic atrophy;HP:0004209|Clinodactyly of the 5th finger;HP:0006610|Wide intermamillary distance;HP:0006889|Intellectual disability, borderline;HP:0009773|Symphalangism affecting the phalanges of the hand;HP:0000400|Macrotia;HP:0002648|Abnormality of calvarial morphology;HP:0001252|Muscular hypotonia;HP:0100790|Hernia;HP:0000414|Bulbous nose
primary basilar invagination	HP:0002691|Platybasia;HP:0000470|Short neck;HP:0005758|Basilar impression;HP:0000496|Abnormality of eye movement;HP:0001608|Abnormality of the voice;HP:0003468|Abnormality of the vertebrae;HP:0000600|Abnormality of the pharynx;HP:0003319|Abnormality of the cervical spine
hidrotic ectodermal dysplasia, halal type	HP:0000278|Retrognathia;HP:0002552|Trichodysplasia;HP:0000411|Protruding ear;HP:0000078|Abnormality of the genital system;HP:0008388|Abnormality of the toenails;HP:0002558|Supernumerary nipple;HP:0002209|Sparse scalp hair;HP:0000365|Hearing impairment;HP:0000561|Absent eyelashes;HP:0002164|Nail dysplasia;HP:0002223|Absent eyebrow;HP:0002231|Sparse body hair;HP:0007502|Follicular hyperkeratosis;HP:0007565|Multiple cafe-au-lait spots;HP:0007477|Abnormal dermatoglyphics;HP:0001231|Abnormality of the fingernails;HP:0000858|Menstrual irregularities;HP:0001249|Intellectual disability
hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0003141|Hyperbetalipoproteinemia;HP:0001513|Obesity;HP:0001396|Cholestasis;HP:0001403|Macrovesicular hepatic steatosis;HP:0006573|Acute hepatic steatosis;HP:0100514|Abnormality of vitamin E metabolism;HP:0008372|Abnormality of vitamin A metabolism;HP:0011980|Cholesterol gallstones;HP:0012115|Hepatitis;HP:0003124|Hypercholesterolemia;HP:0012397|Aortic atherosclerosis;HP:0002155|Hypertriglyceridemia;HP:0001397|Hepatic steatosis;HP:0004943|Accelerated atherosclerosis;HP:0004929|Coronary atherosclerosis;HP:0001677|Coronary artery disease
early-onset lafora body disease	HP:0001250|Seizures;HP:0000708|Behavioral abnormality;HP:0001251|Ataxia;HP:0001336|Myoclonus;HP:0011999|Paranoia;HP:0001347|Hyperreflexia;HP:0001289|Confusion;HP:0001268|Mental deterioration;HP:0002300|Mutism;HP:0100318|Lafora bodies;HP:0001285|Spastic tetraparesis;HP:0001260|Dysarthria
primary congenital hypothyroidism without thyroid developmental anomaly	HP:0001263|Global developmental delay;HP:0003270|Abdominal distention;HP:0000239|Large fontanelles;HP:0001537|Umbilical hernia;HP:0002019|Constipation;HP:0000158|Macroglossia;HP:0000280|Coarse facial features;HP:0001510|Growth delay;HP:0001252|Muscular hypotonia;HP:0000952|Jaundice;HP:0000821|Hypothyroidism;HP:0100786|Hypersomnia;HP:0000271|Abnormality of the face
distal trisomy 15q	HP:0000028|Cryptorchidism;HP:0000470|Short neck;HP:0002023|Anal atresia;HP:0000581|Blepharophimosis;HP:0001166|Arachnodactyly;HP:0000218|High palate;HP:0000767|Pectus excavatum;HP:0000508|Ptosis;HP:0000098|Tall stature;HP:0000347|Micrognathia;HP:0002564|Malformation of the heart and great vessels;HP:0000343|Long philtrum;HP:0000383|Abnormality of periauricular region;HP:0001511|Intrauterine growth retardation;HP:0002714|Downturned corners of mouth;HP:0001276|Hypertonia;HP:0000494|Downslanted palpebral fissures;HP:0001250|Seizures;HP:0000324|Facial asymmetry;HP:0000252|Microcephaly;HP:0001539|Omphalocele;HP:0005988|Congenital muscular torticollis;HP:0001249|Intellectual disability;HP:0000426|Prominent nasal bridge;HP:0001387|Joint stiffness;HP:0100490|Camptodactyly of finger;HP:0001252|Muscular hypotonia;HP:0000055|Abnormality of female external genitalia;HP:0000340|Sloping forehead
fibrochondrogenesis 1; fbcg1	HP:0008905|Rhizomelic short limbs;HP:0003196|Short nose;HP:0005442|Widely patent coronal suture;HP:0000463|Nostrils anteverted;HP:0001804|Underdeveloped fingernail;HP:0005622|Widened long bones;HP:0003026|shortened long tubular bones;HP:0000343|Vertical hyperplasia of philtrum;HP:0000470|Decreased cervical height;HP:0001789|Hydrops fetalis;HP:0004209|Clinodactyly of fifth digit;HP:0005476|Widely patent sagittal suture;HP:0000369|Low-set ears;HP:0003375|Narrow sacrosciatic notch;HP:0008451|Posterior vertebral hypoplasia;HP:0004279|Hypoplastic hands;HP:0000377|Malformation of auricle;HP:0100865|Broad ischia;HP:0002007|Frontal protruberance;HP:0000175|Palatoschisis;HP:0001538|Protuberant abdomen;HP:0005257|Small chest;HP:0000907|Anteriorly splayed ribs;HP:0009473|Joint contracture of the hand;HP:0000773|Rib hypoplasia;HP:0003038|Hypoplastic fibula;HP:0005280|Flat, nasal bridge;HP:0000260|Wide anterior fontanel;HP:0001539|Omphalocele;HP:0001800|Underdeveloped toenails;HP:0000485|Enlarged cornea;HP:0000882|Hypoplastic scapula;HP:0200055|Small hand;HP:0000926|Flattened vertebral bodies;HP:0000890|Long collarbone;HP:0000883|Slender ribs;HP:0000520|Anterior bulging of the globe of eye;HP:0012385|Camptodactyly;HP:0000272|Depressed malar region;HP:0000922|Anterior and posterior rib cupping;HP:0000947|Dumbbell-shaped long bone;HP:0000160|Small mouth;HP:0001773|Small feet;HP:0006645|Thin collarbone;HP:0003175|Hypoplastic ischium;HP:0001655|Patent foramen ovale
nephrogenic diabetes insipidus - intracranial calcification	HP:0009806|Nephrogenic diabetes insipidus
autoimmune hemolytic anemia, warm type	HP:0001635|Congestive heart failure;HP:0002829|Arthralgia;HP:0001744|Splenomegaly;HP:0012086|Abnormal urinary color;HP:0002875|Exertional dyspnea;HP:0002725|Systemic lupus erythematosus;HP:0005523|Lymphoproliferative disorder;HP:0005550|Chronic lymphatic leukemia;HP:0012378|Fatigue;HP:0002960|Autoimmunity;HP:0001890|Autoimmune hemolytic anemia;HP:0001945|Fever;HP:0000952|Jaundice;HP:0001649|Tachycardia;HP:0000980|Pallor;HP:0002315|Headache
fryns-smeets-thiry syndrome	HP:0000322|Short philtrum;HP:0004326|Cachexia;HP:0000426|Prominent nasal bridge;HP:0000347|Micrognathia;HP:0000179|Thick lower lip vermilion;HP:0000154|Wide mouth;HP:0004322|Short stature;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0002827|Hip dislocation;HP:0001166|Arachnodactyly;HP:0001519|Disproportionate tall stature;HP:0005692|Joint hyperflexibility;HP:0006443|Patellar aplasia;HP:0001252|Muscular hypotonia;HP:0000446|Narrow nasal bridge;HP:0000232|Everted lower lip vermilion;HP:0002714|Downturned corners of mouth;HP:0001249|Intellectual disability
non-histaminic angioedema	HP:0000988|Skin rash;HP:0100820|Glomerulopathy;HP:0010741|Edema of the lower limbs;HP:0001324|Muscle weakness;HP:0005523|Lymphoproliferative disorder;HP:0000138|Ovarian cyst;HP:0002014|Diarrhea;HP:0004332|Abnormality of lymphocytes;HP:0009830|Peripheral neuropathy;HP:0002017|Nausea and vomiting;HP:0000989|Pruritus;HP:0100598|Pulmonary edema;HP:0100665|Angioedema;HP:0001541|Ascites;HP:0100540|Palpebral edema;HP:0000969|Edema
palant cleft palate syndrome	HP:0006887|Progressive mental retardation;HP:0000175|Palatoschisis;HP:0004322|Stature below 3rd percentile;HP:0002263|Cupid-bow shaped upper lip;HP:0010864|Early and severe mental retardation;HP:0000582|Upward slanting of palpebral fissures;HP:0000414|Bulbous nose;HP:0009185|Contracture of the proximal interphalangeal joint of the 5th finger;HP:0009276|Camptodactyly of the ring finger;HP:0001270|Motor retardation
spondyloepiphyseal dysplasia tarda with mental retardation	HP:0008430|Anterior beaking of lumbar vertebrae;HP:0002673|Coxa valga;HP:0000926|Flattened vertebral bodies;HP:0003185|Small sacroiliac notch;HP:0001249|Mental retardation;HP:0002655|Spondyloepiphyseal dysplasia
hypersensitivity pneumonitis, familial	HP:0006516|Hypersensitivity pneumonitis
succinic acidemia	HP:0003128|Lactic acidosis;HP:0002098|Respiratory distress
fibular aplasia, tibial campomelia, and oligosyndactyly syndrome	HP:0006436|Marked shortening of tibia;HP:0001159|Webbed fingers or toes;HP:0002982|Bowed tibia;HP:0001155|Hand anomalies;HP:0001849|Missing toes;HP:0001180|Hand oligodactyly;HP:0002990|Absent calf bone
male pseudohermaphroditism/mental retardation syndrome, verloes type	HP:0002162|Low posterior hair line;HP:0000037|Male pseudohermaphroditism;HP:0000567|Chorioretinal coloboma;HP:0001249|Mental retardation;HP:0001513|Obesity;HP:0007633|Abnormally small eyeball on both sides;HP:0005857|Cervical spina bifida;HP:0008897|Growth retardation as children;HP:0001344|Absent speech development;HP:0000490|Sunken eyes;HP:0000280|Coarse facial features;HP:0008625|Severe sensorineural deafness;HP:0000470|Decreased cervical height
anonychia-onychodystrophy with brachydactyly type b and ectrodactyly	HP:0000968|Ectodermal dysplasia;HP:0010743|Shortened metatarsals;HP:0001171|Hand ectrodactyly;HP:0009835|Absent/small outermost finger bone of the hand;HP:0001798|Anonychia;HP:0005831|Type B brachydactyly;HP:0002164|Nail dysplasia;HP:0008404|Dystrophic nails
angiomatosis, diffuse corticomeningeal, of divry and van bogaert	HP:0002076|Migraine headaches;HP:0000712|Emotional instability;HP:0001250|Seizures;HP:0001251|Ataxia;HP:0012377|Hemianopia;HP:0000965|Livedo reticularis;HP:0007586|Telangiectases producing 'marbled' skin;HP:0000822|Hypertension;HP:0002136|Wide-based gait;HP:0000726|Dementia;HP:0001260|Dysarthric speech;HP:0002977|Absent/underdeveloped central nervous system tissue;HP:0012444|Brain wasting;HP:0002119|Ventricular dilatation;HP:0002200|Pseudobulbar symptoms
cholesterol-ester transfer protein deficiency	HP:0004416|Precocious atherosclerosis;HP:0010980|Hyperlipoproteinemia;HP:0003077|Hyperlipidemia;HP:0012184|Hyperalphalipoproteinemia;HP:0003124|Hypercholesterolemia;HP:0010874|Tendon xanthomatosis;HP:0012153|Hypotriglyceridemia
nephropathy with pretibial epidermolysis bullosa and deafness	HP:0011906|Reduced beta/alpha synthesis ratio;HP:0012221|Pretibial blistering;HP:0003774|End-stage renal failure;HP:0000123|Nephritis;HP:0000112|Nephropathy;HP:0008404|Dystrophic nails;HP:0000407|sensorineural hearing loss;HP:0007678|Nasolacrimal duct stenosis
cardioauditory syndrome of sanchez cascos	HP:0000365|Hearing impairment;HP:0005875|Increased dermatoglyphic whorls;HP:0001714|Ventricular hypertrophy
pierre robin sequence with pectus excavatum and rib and scapular anomalies	HP:0001252|Hypotonia;HP:0000767|Funnel chest;HP:0000772|Rib anomalies;HP:0001965|Anomaly of scalp;HP:0001382|Hyperextensible joints;HP:0000465|Pterygium colli;HP:0000347|Hypoplasia of mandible;HP:0006631|Small distal segments of the shoulder blade;HP:0000175|Palatoschisis;HP:0000201|Pierre-robin deformity
nystagmus, hereditary vertical	HP:0010544|Vertical nystagmus;HP:0007670|Abnormal vestibuloocular reflex;HP:0001251|Ataxia
cerebral sarcoma	HP:0100244|Fibrosarcoma
red cell phospholipid defect with hemolysis	HP:0001923|Reticulocytosis;HP:0002904|High blood bilirubin levels
anonychia with flexural pigmentation	HP:0000670|Carious teeth;HP:0000962|Hyperkeratosis;HP:0000958|Xerosis;HP:0001798|Anonychia;HP:0000444|Convex nasal ridge;HP:0001034|Hypermelanotic macule;HP:0007502|Follicular hyperkeratosis;HP:0002293|Alopecia of scalp;HP:0030503|Macular telangiectasia;HP:0040211|Abnormality of the skin of the palm;HP:0001595|Abnormality of the hair;HP:0007471|Axillary and groin hyperpigmentation and hypopigmentation;HP:0004404|Abnormality of the nipple;HP:0100872|Abnormality of the plantar skin of foot
body skin hyperlaxity due to vitamin k-dependent coagulation factor deficiency	HP:0001892|Abnormal bleeding;HP:0001102|Angioid streaks of the retina;HP:0001928|Abnormality of coagulation;HP:0000973|Cutis laxa;HP:0001582|Redundant skin;HP:0004944|Cerebral aneurysm;HP:0200034|Papule;HP:0002621|Atherosclerosis
berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification	HP:0001250|Seizures;HP:0007238|Cerebral calcification, nonarteriosclerotic;HP:0004322|Stature below 3rd percentile;HP:0001263|Developmental retardation;HP:0001409|Portal hypertension;HP:0007029|Cerebral saccular aneurysm;HP:0002097|Pulmonary emphysema;HP:0001399|Liver failure;HP:0001394|Hepatic cirrhosis
presenile dementia, kraepelin type	HP:0000726|Dementia
osteopetrosis and infantile neuroaxonal dystrophy	HP:0001939|Laboratory abnormality;HP:0011002|Osteopetrosis;HP:0002059|Degeneration of cerebrum;HP:0001274|Absent corpus callosum
ossicular malformations, familial	HP:0008591|Congenital conductive hearing loss;HP:0004452|Abnormality of the middle ear ossicles
spondyloepimetaphyseal dysplasia with hypotrichosis	HP:0003184|Decreased hip abduction;HP:0005043|Proximal humeral metaphyseal irregularity;HP:0002812|Coxa vara;HP:0100864|Short femoral necks;HP:0002869|Flared iliac wings;HP:0002970|Genu varum;HP:0002834|Flared metaphysis of thigh bone;HP:0008905|Rhizomelic short limbs;HP:0002651|Spondyloepimetaphyseal dysplasia;HP:0003911|Flared wide portion of long bone of upper arm;HP:0005090|Lateral femoral bowing;HP:0002663|Delayed opacification of the epiphyses;HP:0004566|Pear-shaped vertebrae;HP:0001006|Marked hypotrichosis;HP:0006599|Medial widening of clavicles;HP:0004581|Increased anterior vertebral height;HP:0003411|Proximal femoral metaphyseal irregularity
obesity due to pro-opiomelanocortin deficiency	HP:0002591|Polyphagia;HP:0008245|Pituitary hypothyroidism;HP:0001513|Obesity;HP:0001396|Cholestasis;HP:0002297|Red hair;HP:0000842|Hyperinsulinemia;HP:0002173|Hypoglycemic seizures;HP:0002750|Delayed skeletal maturation;HP:0008915|Childhood-onset truncal obesity;HP:0001010|Hypopigmentation of the skin;HP:0008213|Gonadotropin deficiency;HP:0000824|Growth hormone deficiency;HP:0000823|Delayed puberty;HP:0009126|Increased adipose tissue;HP:0001508|Failure to thrive;HP:0000956|Acanthosis nigricans;HP:0001510|Growth delay;HP:0011734|Central adrenal insufficiency
tetralogy of fallot and glaucoma	HP:0001636|Tetrology of fallot;HP:0001087|Childhood glaucoma
weissenbacher- zweymuller syndrome	HP:0000752|Hyperactivity;HP:0000520|Proptosis;HP:0000175|Cleft palate;HP:0000347|Micrognathia;HP:0008905|Rhizomelia;HP:0003016|Metaphyseal widening;HP:0000277|Abnormality of the mandible;HP:0000162|Glossoptosis;HP:0000316|Hypertelorism;HP:0000545|Myopia;HP:0003097|Short femur;HP:0008936|Muscular hypotonia of the trunk;HP:0011819|Submucous cleft soft palate;HP:0007018|Attention deficit hyperactivity disorder;HP:0001252|Muscular hypotonia;HP:0005280|Depressed nasal bridge;HP:0008587|Mild neurosensory hearing impairment;HP:0002194|Delayed gross motor development;HP:0003417|Coronal cleft vertebrae;HP:0000405|Conductive hearing impairment;HP:0000750|Delayed speech and language development
retinoschisis of fovea	HP:0012152|Retinoschisis involving the fovea;HP:0000510|Retinitis pigmentosa;HP:0000662|Poor night vision;HP:0007754|Macular dystrophy;HP:0000572|Visual loss;HP:0000540|Hypermetropia;HP:0000512|ERG abnormal
granulomas, congenital cerebral	HP:0001939|Laboratory abnormality;HP:0000707|Neurological abnormality
myelocytic leukemia-like syndrome, familial, chronic	HP:0005506|Chronic myeloid leukemia
duodenal ulcer due to antral g-cell hyperfunction	HP:0003238|Hyperpepsinogenemia I;HP:0002588|Duodenal ulcer
caroli disease, isolated	HP:0002240|Enlarged liver;HP:0001409|Portal hypertension;HP:0100523|Hepatic abscess;HP:0001945|Fever;HP:0002013|Emesis;HP:0030151|Cholangitis;HP:0002040|Esophageal varix
erythema palmare hereditarium	HP:0010783|Erythema
kifafa seizure disorder	HP:0001250|Seizures;HP:0001249|Mental retardation;HP:0006932|Transient psychotic episodes
sinus node disease and myopia	HP:0011704|Sick sinus syndrome;HP:0011003|High myopia
fingerprint body myopathy	HP:0001939|Laboratory abnormality;HP:0003198|Myopathic changes
dextrocardia with unusual facies and microphthalmia	HP:0003422|Abnormal spinal segmentation;HP:0001651|Thoracic situs inversus;HP:0001999|Facial dysmorphism;HP:0000448|Big nose;HP:0000528|Absence of eyeballs;HP:0000400|Large ears;HP:0000347|Hypoplasia of mandible;HP:0000568|Abnormally small globe of eye;HP:0001266|Choreoathetosis;HP:0005815|Supernumerary ribs;HP:0000175|Palatoschisis;HP:0000340|Receding forehead;HP:0001249|Mental retardation
sensorineural deafness with dilated cardiomyopathy	HP:0000365|Hearing impairment;HP:0040268|Recurrent infections of the middle ear;HP:0001644|Dilated cardiomyopathy;HP:0001635|Congestive heart failure;HP:0030872|Abnormal cardiac ventricular function
grfoma	HP:0002239|Gastrointestinal hemorrhage;HP:0001438|Abnormality of the abdomen;HP:0100833|Neoplasm of the small intestine;HP:0002019|Constipation;HP:0000845|Growth hormone excess;HP:0001824|Weight loss;HP:0005214|Intestinal obstruction;HP:0100526|Neoplasm of the lung;HP:0001031|Subcutaneous lipoma;HP:0002044|Zollinger-Ellison syndrome;HP:0002014|Diarrhea;HP:0006723|Intestinal carcinoid;HP:0000837|Increased circulating gonadotropin level;HP:0002017|Nausea and vomiting;HP:0012334|Extrahepatic cholestasis;HP:0007410|Palmoplantar hyperhidrosis;HP:0002574|Episodic abdominal pain;HP:0008200|Primary hyperparathyroidism;HP:0001541|Ascites;HP:0008256|Adrenocortical adenoma;HP:0100521|Neoplasm of the thymus;HP:0001081|Cholelithiasis;HP:0001406|Intrahepatic cholestasis;HP:0002893|Pituitary adenoma;HP:0002666|Pheochromocytoma;HP:0002240|Hepatomegaly;HP:0030144|Hypoactive bowel sounds;HP:0001578|Hypercortisolism;HP:0000820|Abnormality of the thyroid gland;HP:0003072|Hypercalcemia;HP:0004396|Poor appetite;HP:0000870|Prolactin excess;HP:0001046|Intermittent jaundice;HP:0002894|Neoplasm of the pancreas;HP:0030145|Lack of bowel sounds;HP:0000280|Coarse facial features;HP:0002039|Anorexia;HP:0002897|Parathyroid adenoma
cerebral sclerosis similar to pelizaeus-merzbacher disease	HP:0001939|Laboratory abnormality;HP:0000707|Neurological abnormality
angiolipomatosis, familial	HP:0006773|Cutaneous angiolipomas
intrauterine growth retardation with increased mitomycin c sensitivity	HP:0001999|Facial dysmorphism;HP:0000252|Small head circumference;HP:0001263|Developmental retardation;HP:0001876|Low blood cell count;HP:0008897|Growth retardation as children;HP:0001511|Prenatal onset growth retardation;HP:0003220|Abnormality of chromosome stability
7q11.23 microduplication syndrome	HP:0000028|Cryptorchidism;HP:0010864|Intellectual disability, severe;HP:0001310|Dysmetria;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0000248|Brachycephaly;HP:0000527|Long eyelashes;HP:0000954|Single transverse palmar crease;HP:0000218|High palate;HP:0012450|Chronic constipation;HP:0000455|Broad nasal tip;HP:0000347|Micrognathia;HP:0007772|Impaired smooth pursuit;HP:0000122|Unilateral renal agenesis;HP:0009748|Large earlobe;HP:0000733|Stereotypy;HP:0000396|Overfolded helix;HP:0000256|Macrocephaly;HP:0008655|Aplasia/Hypoplasia of the fallopian tube;HP:0002307|Drooling;HP:0100716|Self-injurious behavior;HP:0000699|Diastema;HP:0000805|Enuresis;HP:0000233|Thin vermilion border;HP:0008684|Aplasia/hypoplasia of the uterus;HP:0010794|Impaired visuospatial constructive cognition;HP:0000767|Pectus excavatum;HP:0001631|Atrial septal defect;HP:0000752|Hyperactivity;HP:0002591|Polyphagia;HP:0000047|Hypospadias;HP:0002937|Hemivertebrae;HP:0000965|Cutis marmorata;HP:0002342|Intellectual disability, moderate;HP:0000126|Hydronephrosis;HP:0001256|Intellectual disability, mild;HP:0000735|Impaired social interactions;HP:0000483|Astigmatism;HP:0000023|Inguinal hernia;HP:0000322|Short philtrum;HP:0000368|Low-set, posteriorly rotated ears;HP:0100807|Long fingers;HP:0000238|Hydrocephalus;HP:0000776|Congenital diaphragmatic hernia;HP:0000363|Abnormality of earlobe;HP:0001650|Aortic valve stenosis;HP:0000577|Exotropia;HP:0001629|Ventricular septal defect;HP:0002119|Ventriculomegaly;HP:0004768|Sparse anterior scalp hair;HP:0000337|Broad forehead;HP:0000750|Delayed speech and language development;HP:0001724|Aortic dilatation;HP:0000316|Hypertelorism;HP:0001643|Patent ductus arteriosus;HP:0000739|Anxiety;HP:0009929|Abnormality of the columella;HP:0001250|Seizures;HP:0000389|Chronic otitis media;HP:0000200|Short lingual frenulum;HP:0002300|Mutism;HP:0000565|Esotropia;HP:0000311|Round face;HP:0002360|Sleep disturbance;HP:0000278|Retrognathia;HP:0000957|Cafe-au-lait spot;HP:0001382|Joint hypermobility;HP:0001363|Craniosynostosis;HP:0002317|Unsteady gait;HP:0011228|Horizontal eyebrow;HP:0045025|Narrow palpebral fissure;HP:0001763|Pes planus;HP:0009879|Cortical gyral simplification;HP:0000470|Short neck;HP:0001321|Cerebellar hypoplasia;HP:0001290|Generalized hypotonia;HP:0002011|Morphological abnormality of the central nervous system;HP:0011333|Asymmetric crying face;HP:0000490|Deeply set eye;HP:0001270|Motor delay;HP:0000486|Strabismus;HP:0000960|Sacral dimple;HP:0000718|Aggressive behavior;HP:0030212|Collectionism;HP:0002779|Tracheomalacia;HP:0001510|Growth delay;HP:0012795|Abnormality of the optic disc;HP:0001999|Abnormal facial shape;HP:0000268|Dolichocephaly;HP:0001513|Obesity;HP:0000219|Thin upper lip vermilion;HP:0000348|High forehead;HP:0002967|Cubitus valgus;HP:0000753|Autism with high cognitive abilities;HP:0000689|Dental malocclusion
cryptophthalmos, unilateral or bilateral, isolated	HP:0000501|Glaucoma;HP:0001126|Cryptophthalmos;HP:0000568|Abnormally small globe of eye;HP:0009755|Eyelid synechiae
acanthosis nigricans with muscle cramps and acral enlargement	HP:0003394|Muscle cramps;HP:0000855|Insulin resistance;HP:0000956|Keratosis nigricans
obesity due to leptin receptor gene deficiency	HP:0002591|Polyphagia;HP:0008724|Hypoplasia of the ovary;HP:0000786|Primary amenorrhea;HP:0000771|Gynecomastia;HP:0004926|Orthostatic hypotension due to autonomic dysfunction;HP:0008245|Pituitary hypothyroidism;HP:0001513|Obesity;HP:0000815|Hypergonadotropic hypogonadism;HP:0000842|Hyperinsulinemia;HP:0005407|Decreased number of CD4+ T cells;HP:0008230|Decreased testosterone in males;HP:0002788|Recurrent upper respiratory tract infections;HP:0008187|Absence of secondary sex characteristics;HP:0008734|Decreased testicular size;HP:0008214|Decreased serum estradiol;HP:0002155|Hypertriglyceridemia;HP:0000712|Emotional lability;HP:0000831|Insulin-resistant diabetes mellitus;HP:0005419|Decreased T cell activation;HP:0005616|Accelerated skeletal maturation;HP:0003292|Decreased serum leptin
porencephaly, cerebellar hypoplasia, and internal malformations	HP:0001321|Small cerebellum;HP:0001636|Tetrology of fallot;HP:0002132|Porencephaly;HP:0002335|Agenesis of cerebellar vermis;HP:0001696|Situs inversus totalis;HP:0001631|Atria septal defect
dentin dysplasia with sclerotic bones	HP:0005652|Cortical sclerosis;HP:0011060|Dentinogenesis imperfecta limited to primary teeth
angioma serpiginosum, autosomal dominant	HP:0000962|Hyperkeratosis
ectrodactyly and ectodermal dysplasia without cleft lip/palate	HP:0001171|Hand ectrodactyly;HP:0000968|Ectodermal dysplasia;HP:0000164|Abnormality of the teeth;HP:0001839|Foot ectrodactyly;HP:0001006|Marked hypotrichosis
myxoma, intracardiac	HP:0006689|Bacterial endocarditis;HP:0006691|Pulmonic valve myxoma
red skin pigment anomaly of new guinea	HP:0000613|Extreme light sensitivity;HP:0000639|Nystagmus;HP:0001595|Hair abnormality
erythroleukemia, familial	HP:0001909|Leukemia;HP:0004828|Myelodysplasia with sideroblastosis
neuropathy, congenital, with arthrogryposis multiplex	HP:0001257|Spasticity;HP:0006903|Congenital peripheral neuropathy;HP:0003693|Muscle atrophy, distal;HP:0003307|Hyperlordosis;HP:0001848|Calcaneovalgus Foot;HP:0003487|Extensor plantar reflexes;HP:0002136|Wide-based gait;HP:0002460|Weakness of distal muscles;HP:0002522|Absent lower limb tendon reflexes;HP:0002804|Arthrogryposis multiplex congenita;HP:0002600|Hyporeflexia of lower limbs
microcephaly with spastic quadriplegia	HP:0002123|Myoclonus seizures;HP:0002510|Spastic quadriplegia;HP:0005484|Acquired microcephaly;HP:0001263|Developmental retardation
fourth cranial nerve palsy, familial congenital	HP:0007011|Superior oblique palsy
leiomyoma of vulva and esophagus	HP:0008665|Clitoromegaly;HP:0005240|Esophageal obstruction
weyers ulnar ray/oligodactyly syndrome	HP:0009777|Absent thumbs;HP:0006495|Hypoplasia or unilateral/bilateral absence of ulna;HP:0006315|Single central upper incisor;HP:0000126|Hydronephrosis;HP:0000218|Increased palatal height;HP:0000347|Hypoplasia of mandible;HP:0000276|Long face;HP:0000204|Cleft upper lip;HP:0001180|Hand oligodactyly;HP:0009623|Proximally placed thumbs;HP:0003027|Mesomelia;HP:0005070|Proximal radial head dislocation;HP:0000275|Decreased width of face;HP:0002984|Hypoplastic radius;HP:0000175|Palatoschisis;HP:0000601|Closely spaced eyes
van bogaert-hozay syndrome	HP:0005033|Distal shortening of ulna;HP:0001595|Hair abnormality;HP:0009771|Acro-osteolysis;HP:0000377|Malformation of auricle;HP:0000545|Near sightedness;HP:0000347|Hypoplasia of mandible;HP:0005280|Flat, nasal bridge;HP:0000483|Astigmatism;HP:0001256|Mild mental retardation;HP:0000692|Malpositioned teeth
spondyloepimetaphyseal dysplasia, genevieve type	HP:0000639|Nystagmus;HP:0000445|Broad nose;HP:0000248|Brachycephaly;HP:0005121|Posterior scalloping of vertebral bodies;HP:0002868|Narrow iliac wings;HP:0000470|Decreased cervical height;HP:0000286|Palpebronasal fold;HP:0001251|Ataxia;HP:0000377|Malformation of auricle;HP:0010585|Small end part of bone;HP:0003025|Frayed, irregular metaphyses;HP:0000179|Plump lower lip;HP:0003015|Metaphyseal splaying;HP:0001249|Mental retardation;HP:0001252|Hypotonia;HP:0000252|Small head circumference;HP:0003180|Flat acetabular roof;HP:0000294|Low frontal hairline;HP:0003085|Disproportionately long fibula;HP:0000926|Flattened vertebral bodies;HP:0001498|Hypoplastic carpal bones;HP:0003301|vertebral endplate irregularity;HP:0002162|Low posterior hair line;HP:0100864|Short femoral necks;HP:0002651|Spondyloepimetaphyseal dysplasia;HP:0000951|dermatopathy;HP:0001007|Hirsutism;HP:0000280|Coarse facial features;HP:0010582|Irregular epiphyses;HP:0000664|Unibrow
panhypophysitis	HP:0000863|Central diabetes insipidus;HP:0008202|Prolactin deficiency;HP:0011748|Adrenocorticotropic hormone deficiency;HP:0001278|Orthostatic hypotension;HP:0007987|Progressive visual field defects;HP:0040306|Decreased male libido;HP:0000622|Blurred vision;HP:0008163|Decreased circulating cortisol level;HP:0011751|Abnormality of the posterior pituitary;HP:0002018|Nausea;HP:0002902|Hyponatremia;HP:0000872|Hashimoto thyroiditis;HP:0000871|Panhypopituitarism;HP:0001895|Normochromic anemia;HP:0000407|Sensorineural hearing impairment;HP:0003158|Hyposthenuria;HP:0012504|Abnormal size of pituitary gland;HP:0003493|Antinuclear antibody positivity;HP:0008230|Decreased testosterone in males;HP:0011735|Adrenocorticotropin deficient adrenal insufficiency;HP:0000651|Diplopia;HP:0001959|Polydipsia;HP:0000802|Impotence;HP:0004396|Poor appetite;HP:0000141|Amenorrhea;HP:0000870|Prolactin excess;HP:0030018|Decreased female libido;HP:0012696|Abnormal thalamic MRI signal intensity;HP:0008213|Gonadotropin deficiency;HP:0008214|Decreased serum estradiol;HP:0007041|Chronic lymphocytic meningitis;HP:0000980|Pallor;HP:0002315|Headache;HP:0008240|Secondary growth hormone deficiency;HP:0008245|Pituitary hypothyroidism
alopecia-contractures-dwarfism mental retardation syndrome	HP:0001596|Hair loss;HP:0002265|Large fleshy ears;HP:0004220|Hypoplastic middle phalanx of the 5th finger;HP:0000448|Big nose;HP:0010554|Cutaneous syndactyly of hands;HP:0001371|Flexion contractures of joints;HP:0000506|Telecanthus;HP:0000670|Dental caries;HP:0008850|Marked growth retardation;HP:0000545|Near sightedness;HP:0010864|Early and severe mental retardation;HP:0006282|Generalized hypoplasia of tooth enamel;HP:0005659|Thoracic kyphoscoliosis;HP:0002827|Hip dislocation;HP:0000262|Tall shaped skull;HP:0003510|Proportionate dwarfism;HP:0000268|Dolichocephaly;HP:0006887|Progressive mental retardation
anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis	HP:0001385|Congenital hip dysplasia;HP:0001305|Dandy-Walker cyst;HP:0007700|Anterior segment dysgenesis;HP:0002777|Tracheal stenosis;HP:0001595|Hair abnormality;HP:0000402|Stenosis of the external auditory canal;HP:0001773|Small feet;HP:0001510|Growth deficiency;HP:0000765|Abnormality of the thorax;HP:0000851|Congenital hypothyroidism;HP:0000164|Abnormality of the teeth;HP:0000824|Growth hormone deficiency;HP:0001321|Small cerebellum;HP:0000612|Iris coloboma;HP:0000470|Decreased cervical height;HP:0008736|Hypoplasia of penis
schimke x-linked mental retardation syndrome	HP:0001257|Spasticity;HP:0000544|CPEO;HP:0005484|Acquired microcephaly;HP:0000365|Hearing impairment;HP:0001510|Growth deficiency;HP:0001266|Choreoathetosis;HP:0001249|Mental retardation
cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction	HP:0001973|Autoimmune thrombocytopenia;HP:0000110|Renal dysplasia;HP:0001177|Preaxial hand polydactyly;HP:0000796|Urethral obstruction;HP:0004392|Prune belly;HP:0002023|Anal atresia;HP:0000912|High scapula;HP:0001762|Talipes equinovarus;HP:0001539|Omphalocele;HP:0000891|Cervical ribs;HP:0000089|Small kidneys;HP:0002944|Thoracolumbar scoliosis;HP:0008635|Hypertrophy of the urinary bladder
achalasia, familial esophageal	HP:0000217|Dry mouth syndrome;HP:0002571|Achalasia;HP:0001370|Rheumatoid arthritis;HP:0001097|Keratoconjunctivitis sicca
chromosome 16p13.3 deletion syndrome	HP:0000486|Squint eyes;HP:0000347|Hypoplasia of mandible;HP:0000444|Polly beak nasal deformity;HP:0010815|Sebaceous naevus;HP:0009553|Abnormality of the hairline;HP:0004209|Clinodactyly of fifth digit;HP:0002719|infections, recurrent;HP:0009765|Extension of the columella below the ala nasi;HP:0001249|Mental retardation;HP:0008872|Feeding difficulties in infancy;HP:0001252|Hypotonia;HP:0000077|Renal anomaly;HP:0001250|Seizures;HP:0001999|Facial dysmorphism;HP:0000252|Small head circumference;HP:0001263|Developmental retardation;HP:0000545|Near sightedness;HP:0004383|Underdeveloped left heart;HP:0000218|Increased palatal height;HP:0002650|Scoliosis;HP:0001508|Weight faltering;HP:0000329|Facial hemangiomata;HP:0002219|Increased facial hair growth;HP:0002360|Sleep disturbance;HP:0011304|Wide/broad thumb;HP:0000448|Big nose;HP:0001513|Obesity;HP:0000494|Downward slanting palpebral fissures;HP:0010055|Abnormally broad great toes;HP:0001748|Polysplenia
craniorhiny	HP:0000463|Nostrils anteverted;HP:0001363|Early fusion of cranial sutures;HP:0000445|Broad nose;HP:0000262|Tall shaped skull;HP:0000263|Oxycephaly
spondyloepimetaphyseal dysplasia, micromelic	HP:0003422|Abnormal spinal segmentation;HP:0001249|Mental retardation;HP:0008873|Dwarfism, short-limbed;HP:0002651|Spondyloepimetaphyseal dysplasia;HP:0001156|Brachydactyly;HP:0000774|Low chest circumference;HP:0100255|Metaphyseal dysplasia;HP:0000470|Decreased cervical height
onychotrichodysplasia and neutropenia	HP:0009886|Trichorrhexis nodosa;HP:0002719|infections, recurrent;HP:0001804|Underdeveloped fingernail;HP:0100827|Lymphocytosis;HP:0002212|Curly hair;HP:0001256|Mild mental retardation;HP:0010764|Decreased length of eyelashes;HP:0001875|Neutropenia;HP:0001598|Koilonychia;HP:0002225|Sparse pubic hair;HP:0007665|Curly eyelashes;HP:0007717|Chronic irritative conjunctivitis
secondary syringomyelia	HP:0000639|Nystagmus;HP:0010871|Sensory ataxia;HP:0001283|Bulbar palsy;HP:0002355|Difficulty walking;HP:0003474|Sensory impairment;HP:0002858|Meningioma;HP:0000622|Blurred vision;HP:0010550|Paraplegia;HP:0003401|Paresthesia;HP:0003473|Fatigable weakness;HP:0003396|Syringomyelia;HP:0010532|Paroxysmal vertigo;HP:0002073|Progressive cerebellar ataxia;HP:0007305|CNS demyelination;HP:0100518|Dysuria;HP:0003418|Back pain;HP:0001250|Seizures;HP:0001618|Dysphonia;HP:0000224|Decreased taste sensation;HP:0012229|CSF pleocytosis;HP:0007209|Facial paralysis;HP:0040272|Hyperintensity of MRI T2 signal of the spinal cord;HP:0007024|Pseudobulbar paralysis;HP:0002922|Increased CSF protein;HP:0006824|Cranial nerve paralysis;HP:0006984|Distal sensory loss of all modalities
mandibulofacial dysostosis with macroblepharon and macrostomia	HP:0000311|Round facial shape;HP:0000677|Failure of development of more than six teeth;HP:0000239|Persistent wide fontanel;HP:0000347|Hypoplasia of mandible;HP:0005321|Mandibulofacial dysostosis;HP:0000463|Nostrils anteverted;HP:0000316|Increased distance between eye sockets;HP:0000343|Vertical hyperplasia of philtrum;HP:0007957|Corneal clouding;HP:0012368|Flat face;HP:0000574|Thick eyebrow;HP:0000358|Ear, posterior angulation, increased;HP:0000403|Otitis media, recurrent;HP:0000154|Large mouth;HP:0000319|Smooth philtrum;HP:0000491|Corneal inflammation;HP:0000431|Broad nasal root;HP:0000637|Wide palpebral fissure;HP:0000509|Conjunctivitis;HP:0000494|Downward slanting palpebral fissures;HP:0008551|Hypoplasia of the external ear;HP:0000664|Unibrow
metaphyseal chondrodysplasia, kaitila type	HP:0009826|limb shortening;HP:0010049|Metacarpal hypoplasia;HP:0010230|Cone-shaped epiphyses of the phalanges of the hand;HP:0000444|Polly beak nasal deformity;HP:0002944|Thoracolumbar scoliosis;HP:0100255|Metaphyseal dysplasia;HP:0008873|Dwarfism, short-limbed;HP:0002983|Micromelia;HP:0001831|Short toes;HP:0003025|Frayed, irregular metaphyses;HP:0005871|Metaphyseal chondrodysplasia;HP:0001821|Broad nail;HP:0000189|Decreased transverse dimension of palate;HP:0001377|Restricted elbow extension;HP:0003037|Enlarged joints;HP:0001270|Motor retardation;HP:0003016|Wide metaphyses;HP:0006094|Finger joint hypermobility;HP:0000774|Low chest circumference;HP:0001799|Short nails;HP:0002086|Respiratory abnormality;HP:0000946|Small iliac bones;HP:0009803|Hypoplastic/small phalanges of the hand;HP:0010743|Shortened metatarsals;HP:0008828|Delayed proximal femoral epiphyseal ossification;HP:0003411|Proximal femoral metaphyseal irregularity
generalized congenital lipodystrophy with myopathy	HP:0040081|Abnormal levels of creatine kinase in blood;HP:0002720|IgA deficiency;HP:0003306|Spinal rigidity;HP:0002015|Dysphagia;HP:0003552|Muscle stiffness;HP:0001733|Pancreatitis;HP:0002019|Constipation;HP:0003198|Myopathy;HP:0000824|Growth hormone deficiency;HP:0001662|Bradycardia;HP:0000869|Secondary amenorrhea;HP:0001635|Congestive heart failure;HP:0000963|Thin skin;HP:0003720|Generalized muscle hypertrophy;HP:0001371|Flexion contracture;HP:0003326|Myalgia;HP:0003738|Exercise-induced myalgia;HP:0003635|Loss of subcutaneous adipose tissue in limbs;HP:0000855|Insulin resistance;HP:0003712|Skeletal muscle hypertrophy;HP:0003307|Hyperlordosis;HP:0002155|Hypertriglyceridemia;HP:0100578|Lipoatrophy;HP:0000147|Polycystic ovaries;HP:0002719|Recurrent infections;HP:0005184|Prolonged QTc interval;HP:0005110|Atrial fibrillation;HP:0100607|Dysmenorrhea;HP:0000842|Hyperinsulinemia;HP:0002650|Scoliosis;HP:0011675|Arrhythmia;HP:0000938|Osteopenia;HP:0000939|Osteoporosis;HP:0001508|Failure to thrive;HP:0001397|Hepatic steatosis;HP:0002240|Hepatomegaly;HP:0002021|Pyloric stenosis;HP:0002595|Ileus;HP:0001714|Ventricular hypertrophy;HP:0012084|Abnormality of skeletal muscle fiber size;HP:0001962|Palpitations;HP:0002910|Elevated hepatic transaminases;HP:0001744|Splenomegaly;HP:0009073|Progressive proximal muscle weakness;HP:0001324|Muscle weakness;HP:0005561|Abnormality of bone marrow cell morphology;HP:0002750|Delayed skeletal maturation;HP:0000819|Diabetes mellitus;HP:0001007|Hirsutism;HP:0000956|Acanthosis nigricans;HP:0003414|Atlantoaxial dislocation;HP:0002621|Atherosclerosis
brachyphalangy, polydactyly, and tibial aplasia/hypoplasia	HP:0000894|Short clavicles;HP:0000028|Cryptorchidism;HP:0000767|Funnel chest;HP:0000473|Spasmodic torticollis;HP:0010049|Metacarpal hypoplasia;HP:0002869|Flared iliac wings;HP:0008362|Aplasia/Hypoplasia of the hallux;HP:0000581|Blepharophimosis;HP:0003196|Short nose;HP:0000347|Hypoplasia of mandible;HP:0000365|Hearing impairment;HP:0000233|Decreased volume of lip vermillion;HP:0001770|Toe syndactyly;HP:0000316|Increased distance between eye sockets;HP:0006507|Absent/underdeveloped long bone in upper arm;HP:0001840|Forefoot varus;HP:0002697|Parietal foramina;HP:0001363|Early fusion of cranial sutures;HP:0010781|Skin dimples;HP:0000396|Overfolded ears;HP:0000470|Decreased cervical height;HP:0000047|Hypospadias;HP:0000286|Palpebronasal fold;HP:0010561|Wavy ribs;HP:0008386|Aplasia/Hypoplasia of the nails;HP:0001831|Short toes;HP:0004987|Mesomelia of the lower limbs;HP:0001762|Talipes equinovarus;HP:0005613|Absent/small thighbone;HP:0006380|Contractures of knees;HP:0003022|Short ulna;HP:0001841|Preaxial polydactyly of foot;HP:0000384|Preauricular skin tag;HP:0000048|Bifid scrotum;HP:0003182|Shallow acetabulae;HP:0004058|Hand monodactyly;HP:0001162|Postaxial polydactyly of fingers;HP:0001631|Atria septal defect;HP:0000054|Short penis;HP:0000252|Small head circumference;HP:0010806|U-Shaped upper lip vermilion;HP:0001263|Developmental retardation;HP:0001171|Hand ectrodactyly;HP:0003038|Hypoplastic fibula;HP:0001156|Brachydactyly;HP:0000218|Increased palatal height;HP:0002750|Delayed bone maturation;HP:0008830|Hypoplastic pubic rami;HP:0000431|Broad nasal root;HP:0003083|Dislocated radius;HP:0003065|Small patella;HP:0000023|Inguinal hernia;HP:0011304|Wide/broad thumb;HP:0000085|Horseshoe kidney;HP:0009760|Webbed elbow;HP:0009803|Hypoplastic/small phalanges of the hand;HP:0010743|Shortened metatarsals;HP:0007385|Scalp aplasia cutis congenita;HP:0009556|Absent tibia;HP:0002866|Hypoplastic iliac alae;HP:0005160|Total anomalous pulmonary venous return;HP:0002827|Hip dislocation;HP:0000568|Abnormally small globe of eye;HP:0001839|Foot ectrodactyly;HP:0000060|Small clitoris;HP:0009623|Proximally placed thumbs;HP:0000378|Cupped ear;HP:0002984|Hypoplastic radius;HP:0000508|Drooping upper eyelid;HP:0009756|Popliteal pterygium;HP:0003175|Hypoplastic ischium
brachymesomelia renal syndrome	HP:0000954|Simian creases;HP:0005011|Upper limb brachymesomelia;HP:0000083|Renal insufficiency;HP:0000965|Livedo reticularis;HP:0000369|Low-set ears;HP:0000581|Blepharophimosis;HP:0003038|Hypoplastic fibula;HP:0012745|Decreased height of palpebral fissure;HP:0000347|Hypoplasia of mandible;HP:0005280|Flat, nasal bridge;HP:0007759|Cloudy cornea;HP:0002984|Hypoplastic radius;HP:0003031|Ulnar bowing
renal tubular acidosis, distal, type 3	HP:0000787|Renal calculi;HP:0002748|Rickets;HP:0002900|Hypokalemia;HP:0000121|Nephrocalcinosis;HP:0003768|Periodic paralysis;HP:0004910|Bicarbonate-wasting renal tubular acidosis;HP:0002749|Osteomalacia
microcephaly, holoprosencephaly, and intrauterine growth retardation	HP:0000486|Squint eyes;HP:0000413|External auditory meatal atresia;HP:0000252|Small head circumference;HP:0007700|Anterior segment dysgenesis;HP:0000506|Telecanthus;HP:0000400|Large ears;HP:0000160|Small mouth;HP:0000316|Increased distance between eye sockets;HP:0000278|Receding lower jaw;HP:0000444|Polly beak nasal deformity;HP:0002507|Semilobar holoprosencephaly;HP:0001841|Preaxial polydactyly of foot;HP:0001629|Ventricular septal defects;HP:0001511|Prenatal onset growth retardation
fetal hemoglobin quantitative trait locus 2	HP:0001871|Abnormality of blood and blood-forming tissues
chorea, remitting with nystagmus and cataracts	HP:0000518|Cataract;HP:0007747|Monocular horizontal nystagmus;HP:0002072|Chorea
facio thoraco genital syndrome	HP:0000767|Funnel chest;HP:0000219|Decreased height of upper lip vermilion;HP:0000807|Glandular hypospadias;HP:0000347|Hypoplasia of mandible;HP:0000463|Nostrils anteverted;HP:0000319|Smooth philtrum;HP:0000568|Abnormally small globe of eye;HP:0000049|Shawl scrotum;HP:0001792|Hypoplastic nails;HP:0000343|Vertical hyperplasia of philtrum;HP:0003246|Prominent scrotal raphe;HP:0006610|Wide intermamillary distance
dysautonomia like disorder	HP:0002459|Dysautonomia;HP:0009830|Peripheral neuritis;HP:0001249|Mental retardation
splenogonadal fusion limb defects micrognatia	HP:0006283|Failure of eruption of multiple teeth;HP:0000347|Hypoplasia of mandible;HP:0006333|Crowded maxillary incisors;HP:0000119|Genitourinary abnormality
faciomandibular myoclonus, nocturnal	HP:0001336|Myoclonic jerks;HP:0003763|Bruxism
kleeblattschaedel syndrome	HP:0000520|Anterior bulging of the globe of eye;HP:0003070|Elbow ankylosis;HP:0002676|Cloverleaf skull;HP:0000238|Nonsyndromal hydrocephalus;HP:0001363|Early fusion of cranial sutures;HP:0000495|Recurrent corneal erosions
akesson syndrome	HP:0000818|Abnormality of the endocrine system;HP:0001249|Mental retardation;HP:0010541|Thickened folds on top of scalp
ichthyosis alopecia eclabion ectropion mental retardation	HP:0000656|Ectropion;HP:0000232|Everted prominent lower lip;HP:0001596|Hair loss;HP:0001249|Mental retardation;HP:0008064|Ichthyosis
frenkel russe syndrome	HP:0004315|IgG deficiency;HP:0007763|Retinal telangiectasia;HP:0002972|Decreased reactivity to skin test antigens
familial multiple trichodiscomas	HP:0001595|Hair abnormality
fmr1-related primary ovarian insufficiency	HP:0001939|Laboratory abnormality;HP:0008209|Premature ovarian failure;HP:0000837|Elevated gonadotropins;HP:0000858|Menstrual irregularity
acrorenal syndrome recessive	HP:0001171|Hand ectrodactyly;HP:0005563|Oligonephronia;HP:0000089|Small kidneys;HP:0009466|Radially deviated phalanges;HP:0001839|Foot ectrodactyly;HP:0030084|Clinodactyly;HP:0000083|Renal insufficiency
myopathic carnitine deficiency	HP:0003198|Myopathic changes;HP:0003234|Decreased plasma carnitine;HP:0030362|Reduced muscle carnitine level
abdominal chemodectomas with cutaneous angiolipomas	HP:0006729|Retroperitoneal chemodectomas;HP:0030074|Chemodectoma;HP:0006773|Cutaneous angiolipomas
gupta patton syndrome	HP:0000324|Asymmetry of face;HP:0008773|Absent/underdeveloped middle ear;HP:0000405|Conductive hearing loss;HP:0000154|Large mouth;HP:0008551|Hypoplasia of the external ear;HP:0009892|Anotia
daish hardman lamont syndrome	HP:0000238|Nonsyndromal hydrocephalus;HP:0002751|Kyphoscoliosis;HP:0001388|Joint laxity;HP:0000098|Increased body height;HP:0005619|Thoracolumbar kyphosis
potato nose	HP:0000366|Nasal anomaly
tucker syndrome	HP:0001488|Bilateral ptosis;HP:0001605|Vocal cord paralysis
camptomelic syndrome long limb type	HP:0002983|Micromelia;HP:0006487|Camptomelia
cataract, total congenital	HP:0010695|Sutural cataract;HP:0001141|Severe visual impairment;HP:0008024|Congenital nuclear cataract
cornea guttata with anterior polar cataract	HP:0001134|Anterior polar cataract;HP:0000505|Poor vision
keratoconus posticus circumscriptus	HP:0008511|Central posterior corneal opacity;HP:0005852|Limited elbow extension and supination;HP:0004209|Clinodactyly of fifth digit;HP:0001263|Developmental retardation;HP:0000465|Pterygium colli;HP:0005640|Abnormal vertebral segmentation and fusion;HP:0001510|Growth deficiency;HP:0000204|Cleft upper lip;HP:0000563|Conical cornea;HP:0000316|Increased distance between eye sockets;HP:0000076|Vesicoureteric reflux;HP:0000175|Palatoschisis;HP:0000470|Decreased cervical height;HP:0001156|Brachydactyly;HP:0000010|Frequent urinary tract infections
familial hypersecretion of adrenal androgens	HP:0012411|Premature pubarche;HP:0002717|Adrenal overactivity;HP:0000141|Abnormal absence of menstruation;HP:0030348|Increased circulating androgen level;HP:0001007|Hirsutism
fetal akinesia syndrome x-linked	HP:0002139|Arrhinencephaly;HP:0000506|Telecanthus;HP:0000581|Blepharophimosis;HP:0001989|Fetal akinesia sequence;HP:0002375|Decreased spontaneous movement;HP:0001274|Absent corpus callosum;HP:0001561|Hydramnios
cataract ataxia deafness	HP:0004322|Stature below 3rd percentile;HP:0001251|Ataxia;HP:0001271|Polyneuropathy;HP:0002936|Decreased distal sensation;HP:0001284|Areflexia;HP:0001256|Mild mental retardation;HP:0008615|Sensorineural deafness, late-onset;HP:0000519|Cataracts, lenticular, bilateral
cataracts, ataxia, short stature, and mental retardation	HP:0001252|Hypotonia;HP:0004322|Stature below 3rd percentile;HP:0001251|Ataxia;HP:0001324|Muscular weakness;HP:0007787|Posterior subcapsular cataract;HP:0001260|Dysarthric speech;HP:0002174|Postural tremor;HP:0001249|Mental retardation
thyrocerebral-retinal syndrome	HP:0001250|Seizures;HP:0000123|Nephritis;HP:0000853|Goitre;HP:0001251|Ataxia;HP:0003202|Neurogenic muscle atrophy, especially in the lower limbs;HP:0001350|Slurred speech;HP:0000407|sensorineural hearing loss;HP:0001336|Myoclonic jerks;HP:0001873|Low platelet count
bor-duane hydrocephalus contiguous gene syndrome	HP:0001939|Laboratory abnormality;HP:0003011|Abnormality of the musculature;HP:0000598|Ear anomaly;HP:0000478|Abnormal eye;HP:0000238|Nonsyndromal hydrocephalus
myopathy, distal, 3	HP:0001760|Foot deformities;HP:0003376|'steppage' gait;HP:0009473|Joint contracture of the hand;HP:0001171|Hand ectrodactyly;HP:0003693|Muscle atrophy, distal;HP:0003694|Late-onset proximal muscle weakness;HP:0003805|Rimmed vacuoles;HP:0008180|Mildly increased creatine kinase;HP:0002312|Clumsiness;HP:0002460|Weakness of distal muscles;HP:0003458|EMG: myopathic abnormalities;HP:0003560|Muscular dystrophy
familial erythema nodosum	HP:0010783|Erythema;HP:0012219|Erythema nodosum
ectodermal dysplasia adrenal cyst	HP:0000968|Ectodermal dysplasia;HP:0000818|Abnormality of the endocrine system;HP:0003187|Underdeveloped breasts;HP:0000684|Delayed eruption of teeth;HP:0002164|Nail dysplasia;HP:0000966|Decreased sweating;HP:0002557|Hypoplastic nipples
ectodermal dysplasia mental retardation syndactyly	HP:0000968|Ectodermal dysplasia;HP:0001999|Facial dysmorphism;HP:0006097|Webbed 3rd-4th fingers;HP:0007385|Scalp aplasia cutis congenita;HP:0008401|Overgrowth and curving of toenails;HP:0000958|Xerosis;HP:0002410|Aqueductal stenosis;HP:0000598|Ear anomaly;HP:0002315|Headaches;HP:0004691|partial or complete syndactyly 2nd-3rd toes;HP:0000431|Broad nasal root;HP:0000535|Thin, sparse eyebrows;HP:0000966|Decreased sweating;HP:0000194|Slack jawed appearance;HP:0006358|Shovel-shaped upper front teeth;HP:0000678|Dental crowding;HP:0000637|Wide palpebral fissure;HP:0000523|Subcapsular cataract;HP:0001249|Mental retardation;HP:0002119|Ventricular dilatation
myelodysplasia and leukemia syndrome with monosomy 7	HP:0001873|Low platelet count;HP:0004808|Acute myelogenous leukemia;HP:0005518|Erythrocyte macrocytosis;HP:0002863|Myelodysplastic syndrome
autosomal dominant compelling helio ophthalmic outburst syndrome	HP:0000707|Neurological abnormality
immunodeficiency with hyper-igm, type 4	HP:0001973|Autoimmune thrombocytopenia;HP:0002863|Myelodysplastic syndrome;HP:0002718|Recurrent pyogenic infections;HP:0002754|Bone infection;HP:0002110|Bronchiectasis;HP:0002721|Immunodeficiency;HP:0001890|Autoimmune hemolytic anemia;HP:0004798|Recurrent infection of the gastrointestinal tract;HP:0002959|Impaired B-lymphocyte isotype switching;HP:0002788|Recurrent upper respiratory infection;HP:0002849|Lymphoid germinal center defect
roy maroteaux kremp syndrome	HP:0001258|Spastic paraplegia, lower limb;HP:0000951|dermatopathy;HP:0011001|Increased bone mineral density
microcephaly, corpus callosum dysgenesis and cleft lip-palate	HP:0000520|Anterior bulging of the globe of eye;HP:0001250|Seizures;HP:0001177|Preaxial hand polydactyly;HP:0000252|Small head circumference;HP:0001263|Developmental retardation;HP:0002079|Hypoplasia of the corpus callosum;HP:0000204|Cleft upper lip;HP:0000175|Palatoschisis
basaloid follicular hamartoma syndrome, generalized, autosomal dominant	HP:0200034|Papule;HP:0004782|Reduced/lack of hair on scalp;HP:0000966|Decreased sweating;HP:0010610|Palmar pits;HP:0010566|Hamartoma
retinoschisis autosomal dominant	HP:0008002|Abnormality of macular pigmentation;HP:0007769|Peripheral retinal degeneration;HP:0030502|Retinoschisis
neuhauser daly magnelli syndrome	HP:0001317|Abnormality of the cerebellum;HP:0000639|Nystagmus;HP:0001337|Tremor;HP:0002588|Duodenal ulcer
neuronopathy, distal hereditary motor, type i	HP:0007267|Chronic axonal neuropathy;HP:0001765|Hammertoes;HP:0003484|Upper limb muscle weakness;HP:0006938|Decreased vibration sense at ankles;HP:0003693|Muscle atrophy, distal;HP:0003487|Extensor plantar reflexes;HP:0002460|Weakness of distal muscles;HP:0001276|Hypertonia;HP:0001761|Pes cavus
ichthyosis tapered fingers midline groove up	HP:0001182|Tapered finger;HP:0007395|Postnatal-onset ichthyosis;HP:0000160|Small mouth;HP:0000219|Decreased height of upper lip vermilion;HP:0001032|Aplasia of the distal interphalangeal creases
craniosynostosis mental retardation clefting syndrome	HP:0001250|Seizures;HP:0000110|Renal dysplasia;HP:0000567|Chorioretinal coloboma;HP:0000252|Small head circumference;HP:0009821|Hypoplasia involving forearm bones;HP:0000958|Xerosis;HP:0009816|Hypoplasia involving bones of the lower limbs;HP:0000444|Polly beak nasal deformity;HP:0001363|Early fusion of cranial sutures;HP:0000202|Oral clefting;HP:0000337|Increased bitemporal dimension;HP:0001249|Mental retardation
meigel disease	HP:0001939|Laboratory abnormality;HP:0001166|Long, slender fingers;HP:0001519|Dolichostenomelia
duodenal carcinoid syndrome	HP:0001067|Neurofibromas;HP:0000952|Yellow skin;HP:0002666|Pheochromocytoma
hall-riggs syndrome	HP:0010864|Intellectual disability, severe;HP:0100874|Thick hair;HP:0000682|Abnormality of dental enamel;HP:0004322|Short stature;HP:0001344|Absent speech;HP:0005930|Abnormality of epiphysis morphology;HP:0001156|Brachydactyly syndrome;HP:0000154|Wide mouth;HP:0000316|Hypertelorism;HP:0002017|Nausea and vomiting;HP:0000684|Delayed eruption of teeth;HP:0011344|Severe global developmental delay;HP:0002714|Downturned corners of mouth;HP:0002208|Coarse hair;HP:0012471|Thick vermilion border;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0009826|Limb undergrowth;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0001508|Failure to thrive;HP:0000926|Platyspondyly;HP:0000448|Prominent nose;HP:0000431|Wide nasal bridge;HP:0001387|Joint stiffness;HP:0002750|Delayed skeletal maturation;HP:0000463|Anteverted nares;HP:0002217|Slow-growing hair;HP:0000944|Abnormality of the metaphyses
x-linked retinal dysplasia	HP:0000639|Nystagmus;HP:0007703|Abnormality of retinal pigmentation;HP:0000505|Visual impairment;HP:0008046|Abnormality of the retinal vasculature;HP:0000486|Strabismus;HP:0007973|Retinal dysplasia
chromosome xq26.3 duplication syndrome	HP:0001176|large hand;HP:0002893|Pituitary adenoma;HP:0001833|large feet;HP:0000845|Acromegalic growth;HP:0000098|Increased body height;HP:0005616|Early bone maturation;HP:0000280|Coarse facial features
familial primary gastric lymphoma	HP:0045038|Primary gastric lymphoma
thyroid hormone unresponsiveness	HP:0000750|Late-onset speech development;HP:0011788|Increased serum fT3;HP:0007018|Attention deficits;HP:0002930|Resistance to thyroid hormone;HP:0000853|Goitre
autosomal recessive ataxia, beauce type	HP:0001251|Ataxia
phocomelia, schinzel type	HP:0000028|Cryptorchidism;HP:0000470|Short neck;HP:0002990|Fibular aplasia;HP:0006487|Bowing of the long bones;HP:0002023|Anal atresia;HP:0003196|Short nose;HP:0009103|Aplasia/Hypoplasia involving the pelvis;HP:0003498|Disproportionate short stature;HP:0002164|Nail dysplasia;HP:0002575|Tracheoesophageal fistula;HP:0001849|Oligodactyly (feet);HP:0008736|Hypoplasia of penis;HP:0001789|Hydrops fetalis;HP:0000347|Micrognathia;HP:0000151|Aplasia of the uterus;HP:0001362|Skull defect;HP:0002986|Radial bowing;HP:0100257|Ectrodactyly;HP:0001511|Intrauterine growth retardation;HP:0002435|Meningocele;HP:0000175|Cleft palate;HP:0002984|Hypoplasia of the radius;HP:0002992|Abnormality of the tibia;HP:0002705|High, narrow palate;HP:0000411|Protruding ear;HP:0001883|Talipes;HP:0003982|Absent ulna;HP:0008517|Aplasia/Hypoplasia of the sacrum;HP:0003041|Humeroradial synostosis;HP:0001180|Oligodactyly (hands);HP:0002983|Micromelia
combined pituitary hormone deficiencies, genetic forms	HP:0000044|Hypogonadotrophic hypogonadism;HP:0001274|Agenesis of corpus callosum;HP:0002920|Decreased circulating ACTH level;HP:0012378|Fatigue;HP:0001331|Absent septum pellucidum;HP:0002019|Constipation;HP:0100842|Septo-optic dysplasia;HP:0008734|Decreased testicular size;HP:0001360|Holoprosencephaly;HP:0000824|Growth hormone deficiency;HP:0012731|Ectopic anterior pituitary gland;HP:0040086|Abnormal prolactin level;HP:0004637|Decreased cervical spine mobility;HP:0011755|Ectopic posterior pituitary;HP:0040075|Hypopituitarism;HP:0002615|Hypotension;HP:0001943|Hypoglycemia;HP:0011344|Severe global developmental delay;HP:0010627|Anterior pituitary hypoplasia;HP:0001510|Growth delay;HP:0000478|Abnormality of the eye;HP:0001250|Seizures;HP:0000457|Depressed nasal ridge;HP:0000839|Pituitary dwarfism;HP:0000938|Osteopenia;HP:0008187|Absence of secondary sex characteristics;HP:0005625|Osteoporosis of vertebrae;HP:0011297|Abnormality of digit;HP:0010311|Aplasia/Hypoplasia of the breasts;HP:0000823|Delayed puberty;HP:0009888|Abnormality of secondary sexual hair;HP:0000609|Optic nerve hypoplasia;HP:0000141|Amenorrhea;HP:0000789|Infertility;HP:0002750|Delayed skeletal maturation;HP:0008501|Median cleft lip and palate;HP:0010442|Polydactyly;HP:0010626|Anterior pituitary agenesis;HP:0008245|Pituitary hypothyroidism
multiple epiphyseal dysplasia, beighton type	HP:0000160|Narrow mouth;HP:0012368|Flat face;HP:0000518|Cataract;HP:0001798|Anonychia;HP:0000545|Myopia;HP:0002656|Epiphyseal dysplasia;HP:0004279|Short palm;HP:0002857|Genu valgum;HP:0007973|Retinal dysplasia;HP:0000311|Round face;HP:0000405|Conductive hearing impairment
acrofacial dysostosis, weyers type	HP:0003502|Mild short stature;HP:0001800|Hypoplastic toenails;HP:0008404|Nail dystrophy;HP:0006315|Single median maxillary incisor;HP:0100797|Toenail dysplasia;HP:0009738|Abnormality of the antihelix;HP:0010557|Overlapping fingers;HP:0000698|Conical tooth;HP:0000668|Hypodontia;HP:0001162|Postaxial hand polydactyly;HP:0000190|Abnormality of oral frenula;HP:0000164|Abnormality of the teeth;HP:0006288|Advanced eruption of teeth;HP:0004209|Clinodactyly of the 5th finger;HP:0001231|Abnormality of the fingernails;HP:0200055|Small hand;HP:0001792|Small nail;HP:0002006|Facial cleft;HP:0008388|Abnormality of the toenails
platyspondylic dysplasia, torrance type	HP:0008873|Disproportionate short-limb short stature;HP:0002089|Pulmonary hypoplasia;HP:0006487|Bowing of the long bones;HP:0005280|Depressed nasal bridge;HP:0000882|Hypoplastic scapulae;HP:0010306|Short thorax;HP:0001789|Hydrops fetalis;HP:0008839|Hypoplastic pelvis;HP:0002970|Genu varum;HP:0002652|Skeletal dysplasia;HP:0000369|Low-set ears;HP:0000774|Narrow chest;HP:0004279|Short palm;HP:0001773|Short foot;HP:0000175|Cleft palate;HP:0000272|Malar flattening;HP:0000926|Platyspondyly;HP:0003270|Abdominal distention;HP:0001191|Abnormality of the carpal bones;HP:0003090|Hypoplasia of the capital femoral epiphysis;HP:0003021|Metaphyseal cupping;HP:0011220|Prominent forehead;HP:0002983|Micromelia;HP:0009882|Short distal phalanx of finger;HP:0001561|Polyhydramnios
complement component 4, partial deficiency of	HP:0002725|Systemic lupus erythematosus
congenital muscular dystrophy, ullrich type	HP:0002359|Frequent falls;HP:0000470|Short neck;HP:0004303|Abnormality of muscle fibers;HP:0003306|Spinal rigidity;HP:0001238|Slender finger;HP:0003700|Generalized amyotrophy;HP:0001290|Generalized hypotonia;HP:0001371|Flexion contracture;HP:0000347|Micrognathia;HP:0010511|Long toe;HP:0006149|Increased laxity of fingers;HP:0003236|Elevated serum creatine phosphokinase;HP:0002987|Elbow flexion contracture;HP:0003557|Increased variability in muscle fiber diameter;HP:0000473|Torticollis;HP:0002650|Scoliosis;HP:0001181|Adducted thumb;HP:0002808|Kyphosis;HP:0008081|Pes valgus;HP:0003458|EMG: myopathic abnormalities;HP:0000565|Esotropia;HP:0001558|Decreased fetal movement;HP:0001324|Muscle weakness;HP:0002878|Respiratory failure;HP:0009113|Diaphragmatic weakness;HP:0002827|Hip dislocation;HP:0006380|Knee flexion contracture;HP:0100297|Increased endomysial connective tissue;HP:0000174|Abnormality of the palate;HP:0003324|Generalized muscle weakness;HP:0005072|Hyperextensibility at wrists
craniofacioskeletal syndrome	HP:0000028|Cryptorchidism;HP:0002777|Tracheal stenosis;HP:0000239|Persistent wide fontanel;HP:0000581|Blepharophimosis;HP:0000347|Hypoplasia of mandible;HP:0002868|Narrow iliac wings;HP:0000453|Blockage of the rear opening of the nasal cavity;HP:0001629|Ventricular septal defects;HP:0000047|Hypospadias;HP:0002738|Small frontal sinuses;HP:0004322|Stature below 3rd percentile;HP:0004209|Clinodactyly of fifth digit;HP:0000126|Hydronephrosis;HP:0004279|Hypoplastic hands;HP:0011611|Interrupted aortic arch;HP:0000175|Palatoschisis;HP:0000358|Ear, posterior angulation, increased;HP:0000914|Shield chest;HP:0001631|Atria septal defect;HP:0000252|Small head circumference;HP:0001263|Developmental retardation;HP:0002901|Hypocalcemia;HP:0001643|Persistent ductus arteriosus;HP:0012745|Decreased height of palpebral fissure;HP:0200055|Small hand;HP:0001511|Prenatal onset growth retardation;HP:0006610|Wide intermamillary distance;HP:0000322|Short philtrum;HP:0000219|Decreased height of upper lip vermilion;HP:0001552|Barrel chest;HP:0001773|Small feet;HP:0000325|Triangular face;HP:0001763|Pes planus;HP:0000494|Downward slanting palpebral fissures;HP:0001321|Small cerebellum;HP:0011467|Aplasia of the gallbladder;HP:0008551|Hypoplasia of the external ear;HP:0001156|Brachydactyly
muscular dystrophy, congenital, merosin-positive	HP:0003198|Myopathic changes;HP:0003701|Proximal limb muscle weakness;HP:0001558|Decreased fetal movement;HP:0001371|Flexion contractures of joints;HP:0003741|Muscular dystrophy, congenital;HP:0003557|Increased fiber size variation;HP:0001388|Joint laxity;HP:0008180|Mildly increased creatine kinase;HP:0002650|Scoliosis;HP:0000467|Neck muscle weakness;HP:0003547|Muscle weakness, shoulder-girdle;HP:0001319|Hypotonia, in neonatal onset;HP:0010628|Facial palsy, unilateral or bilateral;HP:0002747|Respiratory distress due to muscle weakness
deafness, autosomal dominant nonsyndromic sensorineural 17	HP:0005101|High-frequency deafness
senior-loken syndrome 3	HP:0000639|Nystagmus;HP:0003774|End-stage renal failure;HP:0000103|Polyuria;HP:0000090|juvenile nephronophthisis;HP:0000805|Enuresis;HP:0000550|Absent electroretinogram;HP:0000572|Visual loss;HP:0007875|Congenital blindness;HP:0001959|Polydipsia;HP:0000108|Renal corticomedullary cystic disease
spastic paraplegia 29, autosomal dominant	HP:0006986|Uncontrollable movement in upper arms;HP:0003265|Neonatal hyperbilirubinemia;HP:0000019|Urinary hesitancy;HP:0001258|Spastic paraplegia, lower limb;HP:0002013|Emesis;HP:0002169|Clonus;HP:0000017|Nocturia;HP:0003487|Extensor plantar reflexes;HP:0000407|sensorineural hearing loss;HP:0000012|Urinary urgency;HP:0000020|Bladder incontinence;HP:0002036|Hiatus hernia;HP:0002495|Decreased vibration sense;HP:0001761|Pes cavus;HP:0000752|Hyperactive behavior
dystonia 13, torsion	HP:0002356|Writer's cramp;HP:0000473|Spasmodic torticollis;HP:0001304|Dystonia musculorum deformans;HP:0001337|Tremor;HP:0012048|Oromandibular dystonia;HP:0000643|Spontaneous closure of eyelid;HP:0002451|Limb dystonia
waardenburg syndrome, type 2b (disorder)	HP:0000271|Abnormal face;HP:0002211|Poliosis of forelock hair;HP:0001100|Heterochromia irides;HP:0002216|Premature hair graying;HP:0000407|sensorineural hearing loss
alg2-cdg	HP:0000639|Nystagmus;HP:0000518|Cataract;HP:0001250|Seizures;HP:0100543|Cognitive impairment;HP:0000612|Iris coloboma
aldh18a1-related de barsy syndrome	HP:0000518|Cataract;HP:0000974|Hyperextensible skin;HP:0005692|Joint hyperflexibility;HP:0001263|Global developmental delay;HP:0001249|Intellectual disability
cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0000160|Narrow mouth;HP:0002571|Achalasia;HP:0008619|Bilateral sensorineural hearing impairment;HP:0000518|Cataract;HP:0004322|Short stature;HP:0000824|Growth hormone deficiency;HP:0000399|Prelingual sensorineural hearing impairment;HP:0002652|Skeletal dysplasia;HP:0001270|Motor delay;HP:0009830|Peripheral neuropathy;HP:0000574|Thick eyebrow;HP:0000407|Sensorineural hearing impairment;HP:0002650|Scoliosis;HP:0005659|Thoracic kyphoscoliosis;HP:0000519|Congenital cataract;HP:0000408|Progressive sensorineural hearing impairment;HP:0002857|Genu valgum;HP:0003416|Spinal canal stenosis;HP:0003162|Fasting hypoglycemia;HP:0002827|Hip dislocation;HP:0007470|Periarticular subcutaneous nodules;HP:0011220|Prominent forehead;HP:0008445|Cervical spinal canal stenosis;HP:0002655|Spondyloepiphyseal dysplasia
glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0001943|Hypoglycemia;HP:0004322|Short stature
ehlers-danlos syndrome type 7b	HP:0002020|Gastroesophageal reflux;HP:0007392|Excessive wrinkled skin;HP:0001075|Atrophic scars;HP:0001324|Muscle weakness;HP:0004322|Short stature;HP:0005692|Joint hyperflexibility;HP:0000939|Osteoporosis;HP:0100790|Hernia;HP:0000974|Hyperextensible skin;HP:0001933|Subcutaneous hemorrhage
cog2-cdg	HP:0001263|Global developmental delay;HP:0012506|Small pituitary gland;HP:0001433|Hepatosplenomegaly;HP:0002079|Hypoplasia of the corpus callosum;HP:0005484|Postnatal microcephaly;HP:0001410|Decreased liver function;HP:0010837|Decreased serum ceruloplasmin;HP:0010818|Generalized tonic seizures;HP:0011967|Hypocupremia;HP:0002506|Diffuse cerebral atrophy;HP:0002510|Spastic tetraplegia
frontonasal dysplasia with alopecia and genital anomaly	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0001274|Agenesis of corpus callosum;HP:0000568|Microphthalmia;HP:0000698|Conical tooth;HP:0002213|Fine hair;HP:0001562|Oligohydramnios;HP:0000248|Brachycephaly;HP:0005280|Depressed nasal bridge;HP:0000135|Hypogonadism;HP:0000582|Upslanted palpebral fissure;HP:0002342|Intellectual disability, moderate;HP:0000506|Telecanthus;HP:0002007|Frontal bossing;HP:0000369|Low-set ears;HP:0000486|Strabismus;HP:0001362|Skull defect;HP:0000316|Hypertelorism;HP:0000164|Abnormality of the teeth;HP:0001511|Intrauterine growth retardation;HP:0001256|Intellectual disability, mild;HP:0011803|Bifid nose;HP:0000046|Scrotal hypoplasia;HP:0001596|Alopecia;HP:0000463|Anteverted nares;HP:0002084|Encephalocele;HP:0000289|Broad philtrum;HP:0002335|Agenesis of cerebellar vermis;HP:0004440|Coronal craniosynostosis;HP:0000430|Underdeveloped nasal alae
hyperlipoproteinemia type 3	HP:0003141|Hyperbetalipoproteinemia;HP:0003233|Hypoalphalipoproteinemia;HP:0005181|Premature coronary artery disease;HP:0000799|Renal steatosis;HP:0002635|Atheromatosis;HP:0003124|Hypercholesterolemia;HP:0001084|Corneal arcus;HP:0001997|Gout;HP:0004950|Peripheral arterial disease;HP:0012397|Aortic atherosclerosis;HP:0002155|Hypertriglyceridemia;HP:0001735|Acute pancreatitis;HP:0001681|Angina pectoris;HP:0001114|Xanthelasma;HP:0000951|Abnormality of the skin;HP:0001397|Hepatic steatosis;HP:0002240|Hepatomegaly;HP:0001513|Obesity;HP:0000819|Diabetes mellitus;HP:0010874|Tendon xanthomatosis;HP:0005299|Premature peripheral vascular disease;HP:0004943|Accelerated atherosclerosis;HP:0000821|Hypothyroidism
autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0001973|Autoimmune thrombocytopenia;HP:0000818|Abnormality of the endocrine system;HP:0012182|Oropharyngeal squamous cell carcinoma;HP:0011459|Esophageal carcinoma;HP:0003613|Antiphospholipid antibody positivity;HP:0040160|Generalized osteoporosis;HP:0002110|Bronchiectasis;HP:0004322|Short stature;HP:0001904|Autoimmune neutropenia;HP:0002788|Recurrent upper respiratory tract infections;HP:0001890|Autoimmune hemolytic anemia;HP:0011123|Inflammatory abnormality of the skin;HP:0000009|Functional abnormality of the bladder;HP:0005403|Decrease in T cell count;HP:0002383|Encephalitis;HP:0001635|Congestive heart failure;HP:0100646|Thyroiditis;HP:0001433|Hepatosplenomegaly;HP:0005353|Susceptibility to herpesvirus;HP:0001873|Thrombocytopenia;HP:0012163|Carotid artery aneurysm;HP:0002014|Diarrhea;HP:0001920|Renal artery stenosis;HP:0011473|Villous atrophy;HP:0002958|Immune dysregulation;HP:0001888|Lymphopenia;HP:0010976|B lymphocytopenia;HP:0030355|Abnormal serum interferon-gamma level;HP:0002719|Recurrent infections;HP:0001510|Growth delay;HP:0100651|Type I diabetes mellitus;HP:0012455|Large artery calcification;HP:0004944|Cerebral aneurysm;HP:0000938|Osteopenia;HP:0002724|Recurrent Aspergillus infections;HP:0000823|Delayed puberty;HP:0100817|Renovascular hypertension;HP:0002755|Osteomyelitis due to immunodeficiency;HP:0000832|Primary hypothyroidism;HP:0002721|Immunodeficiency;HP:0002750|Delayed skeletal maturation;HP:0002242|Abnormality of the intestine;HP:0004387|Enterocolitis;HP:0012115|Hepatitis;HP:0000964|Eczema;HP:0002728|Chronic mucocutaneous candidiasis;HP:0002092|Pulmonary arterial hypertension;HP:0001655|Patent foramen ovale
septo-optic dysplasia spectrum	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0001274|Agenesis of corpus callosum;HP:0012378|Fatigue;HP:0004322|Short stature;HP:0001331|Absent septum pellucidum;HP:0000873|Diabetes insipidus;HP:0002019|Constipation;HP:0100842|Septo-optic dysplasia;HP:0002575|Tracheoesophageal fistula;HP:0002032|Esophageal atresia;HP:0008736|Hypoplasia of penis;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0002564|Malformation of the heart and great vessels;HP:0000486|Strabismus;HP:0000407|Sensorineural hearing impairment;HP:0004374|Hemiplegia/hemiparesis;HP:0010627|Anterior pituitary hypoplasia;HP:0001250|Seizures;HP:0000175|Cleft palate;HP:0000966|Hypohidrosis;HP:0000458|Anosmia;HP:0002360|Sleep disturbance;HP:0001959|Polydipsia;HP:0000609|Optic nerve hypoplasia;HP:0001249|Intellectual disability;HP:0000717|Autism;HP:0000864|Abnormality of the hypothalamus-pituitary axis;HP:0001513|Obesity;HP:0000505|Visual impairment;HP:0000958|Dry skin;HP:0009800|Maternal diabetes
male infertility with teratozoospermia due to single gene mutation	HP:0012868|Sperm tail anomaly;HP:0000837|Increased circulating gonadotropin level;HP:0000118|Phenotypic abnormality;HP:0008669|Abnormal spermatogenesis;HP:0008734|Decreased testicular size;HP:0012864|Abnormal sperm morphology;HP:0011961|Non-obstructive azoospermia;HP:0012205|Globozoospermia
male infertility with azoospermia or oligozoospermia due to single gene mutation	HP:0000027|Azoospermia;HP:0000837|Increased circulating gonadotropin level;HP:0000118|Phenotypic abnormality;HP:0008669|Abnormal spermatogenesis;HP:0008734|Decreased testicular size;HP:0011962|Obstructive azoospermia;HP:0011961|Non-obstructive azoospermia
tumor necrosis factor receptor 1 associated periodic syndrome	HP:0100796|Orchitis;HP:0012733|Macule;HP:0002013|Vomiting;HP:0000978|Bruising susceptibility;HP:0002019|Constipation;HP:0002027|Abdominal pain;HP:0001954|Episodic fever;HP:0002586|Peritonitis;HP:0005214|Intestinal obstruction;HP:0010783|Erythema;HP:0001055|Erysipelas;HP:0001637|Abnormality of the myocardium;HP:0002102|Pleuritis;HP:0002716|Lymphadenopathy;HP:0002829|Arthralgia;HP:0003326|Myalgia;HP:0003401|Paresthesia;HP:0003565|Elevated erythrocyte sedimentation rate;HP:0002014|Diarrhea;HP:0100776|Recurrent pharyngitis;HP:0100781|Abnormality of the sacroiliac joint;HP:0000708|Behavioral abnormality;HP:0002633|Vasculitis;HP:0000554|Uveitis;HP:0002076|Migraine;HP:0001701|Pericarditis;HP:0100614|Myositis;HP:0000988|Skin rash;HP:0001744|Splenomegaly;HP:0001974|Leukocytosis;HP:0002321|Vertigo;HP:0100658|Cellulitis;HP:0001369|Arthritis;HP:0100537|Fasciitis;HP:0100749|Chest pain;HP:0000509|Conjunctivitis;HP:0001034|Hypermelanotic macule;HP:0006824|Cranial nerve paralysis;HP:0011227|Elevated C-reactive protein level;HP:0100539|Periorbital edema
familial papillary or follicular thyroid carcinoma	HP:0012288|Neoplasm of head and neck;HP:0000853|Goiter;HP:0002730|Chronic noninfectious lymphadenopathy;HP:0006528|Chronic lung disease;HP:0002895|Papillary thyroid carcinoma;HP:0002653|Bone pain;HP:0002757|Recurrent fractures;HP:0005994|Nodular goiter;HP:0012531|Pain;HP:0002733|Abnormality of the lymph nodes;HP:0006766|Papillary renal cell carcinoma;HP:3000037|Abnormality of neck blood vessel;HP:0006731|Follicular thyroid carcinoma;HP:0002176|Spinal cord compression;HP:0003003|Colon cancer
obesity due to sim1 deficiency	HP:0012339|Increased resting energy expenditure;HP:0001263|Global developmental delay;HP:0002459|Dysautonomia;HP:0002591|Polyphagia;HP:0100503|Vitamin B1 deficiency;HP:0000729|Autistic behavior;HP:0001513|Obesity;HP:0001952|Abnormal glucose tolerance;HP:0005307|Postural hypotension with compensatory tachycardia;HP:0000842|Hyperinsulinemia;HP:0100543|Cognitive impairment;HP:0004322|Short stature;HP:0002615|Hypotension;HP:0002354|Memory impairment;HP:0012332|Abnormal autonomic nervous system physiology;HP:0007018|Attention deficit hyperactivity disorder;HP:0001252|Muscular hypotonia;HP:0011968|Feeding difficulties
familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement	HP:0000639|Nystagmus;HP:0000567|Chorioretinal coloboma;HP:0001116|Macular coloboma;HP:0000787|Nephrolithiasis;HP:0001537|Umbilical hernia;HP:0000545|Myopia;HP:0000112|Nephropathy;HP:0100530|Abnormality of calcium-phosphate metabolism;HP:0000790|Hematuria;HP:0007703|Abnormality of retinal pigmentation;HP:0000023|Inguinal hernia
shox-related short stature	HP:0003067|Madelung deformity;HP:0000470|Short neck;HP:0005856|Ulnar radial head dislocation;HP:0000347|Micrognathia;HP:0001513|Obesity;HP:0002967|Cubitus valgus;HP:0004322|Short stature;HP:0002650|Scoliosis;HP:0003712|Skeletal muscle hypertrophy;HP:0002982|Tibial bowing;HP:0005974|Episodic ketoacidosis;HP:0000218|High palate;HP:0002857|Genu valgum;HP:0009821|Forearm undergrowth;HP:0009816|Lower limb undergrowth;HP:0001773|Short foot
aniridia-cerebellar ataxia-intellectual disability syndrome	HP:0001263|Global developmental delay;HP:0001251|Ataxia;HP:0000298|Mask-like facies;HP:0000526|Aniridia;HP:0000364|Hearing abnormality;HP:0002167|Neurological speech impairment;HP:0100022|Abnormality of movement;HP:0002168|Scanning speech;HP:0001252|Muscular hypotonia;HP:0004414|Abnormality of the pulmonary artery;HP:0001249|Intellectual disability
autosomal dominant larsen syndrome	HP:0000028|Cryptorchidism;HP:0005008|Large joint dislocations;HP:0004322|Short stature;HP:0005930|Abnormality of epiphysis morphology;HP:0005280|Depressed nasal bridge;HP:0001156|Brachydactyly syndrome;HP:0006101|Finger syndactyly;HP:0012368|Flat face;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0004232|Accessory carpal bones;HP:0003319|Abnormality of the cervical spine;HP:0000175|Cleft palate;HP:0002093|Respiratory insufficiency;HP:0002650|Scoliosis;HP:0000272|Malar flattening;HP:0000405|Conductive hearing impairment;HP:0001249|Intellectual disability;HP:0001626|Abnormality of the cardiovascular system;HP:0009836|Broad distal phalanx of finger;HP:0001363|Craniosynostosis;HP:0003422|Vertebral segmentation defect;HP:0011304|Broad thumb;HP:0001799|Short nail;HP:0008755|Laryngotracheomalacia;HP:0011220|Prominent forehead;HP:0009882|Short distal phalanx of finger
hartsfield-bixler-demyer syndrome	HP:0001171|Split hand;HP:0000175|Cleft palate;HP:0001363|Craniosynostosis;HP:0006501|Aplasia/Hypoplasia of the radius;HP:0000568|Microphthalmia;HP:0000506|Telecanthus;HP:0002093|Respiratory insufficiency;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0000316|Hypertelorism;HP:0000368|Low-set, posteriorly rotated ears;HP:0002084|Encephalocele;HP:0001511|Intrauterine growth retardation;HP:0005280|Depressed nasal bridge;HP:0006870|Lobar holoprosencephaly;HP:0100335|Non-midline cleft lip;HP:0000508|Ptosis;HP:0000494|Downslanted palpebral fissures
plin1-related familial partial lipodystrophy	HP:0009017|Loss of gluteal subcutaneous adipose tissue;HP:0003117|Abnormality of circulating hormone level;HP:0000789|Infertility;HP:0000842|Hyperinsulinemia;HP:0003635|Loss of subcutaneous adipose tissue in limbs;HP:0003758|Reduced subcutaneous adipose tissue;HP:0001395|Hepatic fibrosis;HP:0000822|Hypertension;HP:0008981|Calf muscle hypertrophy;HP:0000147|Polycystic ovaries;HP:0002155|Hypertriglyceridemia;HP:0001397|Hepatic steatosis;HP:0100578|Lipoatrophy;HP:0000956|Acanthosis nigricans;HP:0000877|Insulin-resistant diabetes mellitus at puberty;HP:0000876|Oligomenorrhea
aldosterone-producing adenoma with seizures and neurological abnormalities	HP:0001263|Global developmental delay;HP:0010864|Intellectual disability, severe;HP:0008221|Adrenal hyperplasia;HP:0002305|Athetosis;HP:0000787|Nephrolithiasis;HP:0100021|Cerebral palsy;HP:0001629|Ventricular septal defect;HP:0002018|Nausea;HP:0001258|Spastic paraplegia;HP:0000822|Hypertension;HP:0000859|Hyperaldosteronism;HP:0100285|EMG: impaired neuromuscular transmission;HP:0001250|Seizures;HP:0011410|Caesarian section;HP:0011706|Second degree atrioventricular block;HP:0002900|Hypokalemia;HP:0011166|Focal myoclonic seizures;HP:0200114|Metabolic alkalosis;HP:0100704|Cortical visual impairment;HP:0002069|Generalized tonic-clonic seizures;HP:0001714|Ventricular hypertrophy;HP:0001959|Polydipsia;HP:0040084|Abnormal circulating renin;HP:0000421|Epistaxis;HP:0011739|Dexamethasone-suppresible primary hyperaldosteronism;HP:0002384|Focal seizures with impairment of consciousness or awareness;HP:0002092|Pulmonary arterial hypertension;HP:0002170|Intracranial hemorrhage;HP:0000360|Tinnitus;HP:0002315|Headache
brachydactyly-arterial hypertension syndrome	HP:0000822|Hypertension;HP:0009803|Short phalanx of finger;HP:0004322|Short stature;HP:0010049|Short metacarpal;HP:0001156|Brachydactyly syndrome
congenital bile acid synthesis defect type 1	HP:0001892|Abnormal bleeding;HP:0006566|Neonatal cholestatic liver disease;HP:0002910|Elevated hepatic transaminases;HP:0001744|Splenomegaly;HP:0002239|Gastrointestinal hemorrhage;HP:0001394|Cirrhosis;HP:0001928|Abnormality of coagulation;HP:0009830|Peripheral neuropathy;HP:0000939|Osteoporosis;HP:0001080|Biliary tract abnormality;HP:0000989|Pruritus;HP:0001508|Failure to thrive;HP:0000952|Jaundice;HP:0002240|Hepatomegaly;HP:0002024|Malabsorption;HP:0000662|Nyctalopia
hypotrichosis with juvenile macular degeneration	HP:0000639|Nystagmus;HP:0000962|Hyperkeratosis;HP:0003777|Pili torti;HP:0000618|Blindness;HP:0002652|Skeletal dysplasia;HP:0001480|Freckling;HP:0002813|Abnormality of limb bone morphology;HP:0004322|Short stature;HP:0002209|Sparse scalp hair;HP:0100326|Immunologic hypersensitivity;HP:0002213|Fine hair;HP:0000608|Macular degeneration;HP:0002299|Brittle hair;HP:0008002|Abnormality of macular pigmentation;HP:0000995|Melanocytic nevus
neurologic waardenburg-shah syndrome	HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0002216|Premature graying of hair;HP:0007256|Abnormal pyramidal signs;HP:0002019|Constipation;HP:0002027|Abdominal pain;HP:0004388|Microcolon;HP:0002251|Aganglionic megacolon;HP:0000633|Decreased lacrimation;HP:0000135|Hypogonadism;HP:0001257|Spasticity;HP:0001251|Ataxia;HP:0000506|Telecanthus;HP:0001053|Hypopigmented skin patches;HP:0009830|Peripheral neuropathy;HP:0000407|Sensorineural hearing impairment;HP:0002804|Arthrogryposis multiplex congenita;HP:0001250|Seizures;HP:0000966|Hypohidrosis;HP:0005599|Hypopigmentation of hair;HP:0011675|Arrhythmia;HP:0001100|Heterochromia iridis;HP:0002240|Hepatomegaly;HP:0000431|Wide nasal bridge;HP:0002595|Ileus;HP:0001249|Intellectual disability;HP:0001744|Splenomegaly;HP:0000426|Prominent nasal bridge;HP:0001252|Muscular hypotonia;HP:0000534|Abnormality of the eyebrow;HP:0000430|Underdeveloped nasal alae
hypothyroidism due to tsh receptor mutations	HP:0003270|Abdominal distention;HP:0000958|Dry skin;HP:0000239|Large fontanelles;HP:0001537|Umbilical hernia;HP:0001615|Hoarse cry;HP:0002019|Constipation;HP:0000158|Macroglossia;HP:0001252|Muscular hypotonia;HP:0000952|Jaundice;HP:0002360|Sleep disturbance;HP:0011968|Feeding difficulties;HP:0000821|Hypothyroidism
isolated osteopoikilosis	HP:0000086|Ectopic kidney;HP:0005789|Generalized osteosclerosis;HP:0002652|Skeletal dysplasia;HP:0004322|Short stature;HP:0000252|Microcephaly;HP:0001482|Subcutaneous nodule
porphyria due to ala dehydratase deficiency	HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0000763|Sensory neuropathy;HP:0001271|Polyneuropathy;HP:0002093|Respiratory insufficiency;HP:0002014|Diarrhea;HP:0002019|Constipation;HP:0002027|Abdominal pain;HP:0000709|Psychosis;HP:0001269|Hemiparesis;HP:0007002|Motor axonal neuropathy
isolated thyroid-stimulating hormone deficiency	HP:0003270|Abdominal distention;HP:0000239|Large fontanelles;HP:0001537|Umbilical hernia;HP:0012378|Fatigue;HP:0002019|Constipation;HP:0000158|Macroglossia;HP:0000280|Coarse facial features;HP:0001252|Muscular hypotonia;HP:0000952|Jaundice;HP:0002360|Sleep disturbance;HP:0011968|Feeding difficulties;HP:0000821|Hypothyroidism
isolated oxycephaly	HP:0010864|Intellectual disability, severe;HP:0000263|Oxycephaly;HP:0001085|Papilledema;HP:0002342|Intellectual disability, moderate;HP:0004443|Lambdoidal craniosynostosis;HP:0002516|Increased intracranial pressure;HP:0002308|Arnold-Chiari malformation;HP:0004442|Sagittal craniosynostosis;HP:0004440|Coronal craniosynostosis
developmental and speech delay due to sox5 deficiency	HP:0002938|Lumbar hyperlordosis;HP:0003316|Butterfly vertebrae;HP:0000078|Abnormality of the genital system;HP:0100716|Self-injurious behavior;HP:0430028|Hyperplasia of the maxilla;HP:0000577|Exotropia;HP:0004691|2-3 toe syndactyly;HP:0000545|Myopia;HP:0000678|Dental crowding;HP:0000750|Delayed speech and language development;HP:0001653|Mitral regurgitation;HP:0002007|Frontal bossing;HP:0001270|Motor delay;HP:0000486|Strabismus;HP:0000733|Stereotypy;HP:0000718|Aggressive behavior;HP:0000739|Anxiety;HP:0011968|Feeding difficulties;HP:0002020|Gastroesophageal reflux;HP:0001250|Seizures;HP:0005659|Thoracic kyphoscoliosis;HP:0002650|Scoliosis;HP:0007018|Attention deficit hyperactivity disorder;HP:0000648|Optic atrophy;HP:0012443|Abnormality of brain morphology;HP:0001249|Intellectual disability;HP:0002948|Vertebral fusion;HP:0002711|Exaggerated median tongue furrow;HP:0001252|Muscular hypotonia;HP:0000189|Narrow palate;HP:0000768|Pectus carinatum
mesoaxial synostotic syndactyly with phalangeal reduction	HP:0009701|Metacarpal synostosis;HP:0006101|Finger syndactyly;HP:0008362|Aplasia/Hypoplasia of the hallux;HP:0005048|Synostosis of carpal bones;HP:0010109|Short hallux;HP:0004691|2-3 toe syndactyly;HP:0009773|Symphalangism affecting the phalanges of the hand;HP:0001770|Toe syndactyly;HP:0004279|Short palm;HP:0009843|Aplasia/Hypoplasia of the middle phalanges of the hand;HP:0004209|Clinodactyly of the 5th finger;HP:0009778|Short thumb
lmna-related cardiocutaneous progeria syndrome	HP:0002216|Premature graying of hair;HP:0001650|Aortic valve stenosis;HP:0000561|Absent eyelashes;HP:0003124|Hypercholesterolemia;HP:0030445|Pulmonary carcinoid tumor;HP:0004414|Abnormality of the pulmonary artery;HP:0006766|Papillary renal cell carcinoma;HP:0002671|Basal cell carcinoma;HP:0001635|Congestive heart failure;HP:0001653|Mitral regurgitation;HP:0006739|Squamous cell carcinoma of the skin;HP:0002097|Emphysema;HP:0000822|Hypertension;HP:0002223|Absent eyebrow;HP:0012397|Aortic atherosclerosis;HP:0002170|Intracranial hemorrhage;HP:0002155|Hypertriglyceridemia;HP:0100578|Lipoatrophy;HP:0100678|Premature skin wrinkling;HP:0011040|Abnormality of the intrahepatic bile duct;HP:0008070|Sparse hair;HP:0100324|Scleroderma;HP:0001714|Ventricular hypertrophy;HP:0002616|Aortic root dilatation;HP:0002289|Alopecia universalis;HP:0004929|Coronary atherosclerosis;HP:0004382|Mitral valve calcification
alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0000028|Cryptorchidism;HP:0011903|Hemoglobin H;HP:0000470|Short neck;HP:0012378|Fatigue;HP:0004322|Short stature;HP:0000978|Bruising susceptibility;HP:0000218|High palate;HP:0000337|Broad forehead;HP:0000047|Hypospadias;HP:0001371|Flexion contracture;HP:0000347|Micrognathia;HP:0002007|Frontal bossing;HP:0001762|Talipes equinovarus;HP:0002167|Neurological speech impairment;HP:0000316|Hypertelorism;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0009906|Aplasia/Hypoplasia of the earlobes;HP:0000494|Downslanted palpebral fissures;HP:0001831|Short toe;HP:0000286|Epicanthus;HP:0000252|Microcephaly;HP:0001508|Failure to thrive;HP:0000272|Malar flattening;HP:0000431|Wide nasal bridge;HP:0001249|Intellectual disability;HP:0000278|Retrognathia;HP:0000348|High forehead;HP:0000368|Low-set, posteriorly rotated ears;HP:0009891|Underdeveloped supraorbital ridges;HP:0001252|Muscular hypotonia;HP:0000768|Pectus carinatum;HP:0001935|Microcytic anemia
isolated anencephaly/exencephaly	HP:0008207|Primary adrenal insufficiency;HP:0002323|Anencephaly
microphthalmia with brain and digit anomalies	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0001274|Agenesis of corpus callosum;HP:0001830|Postaxial foot polydactyly;HP:0000568|Microphthalmia;HP:0000518|Cataract;HP:0000647|Sclerocornea;HP:0000545|Myopia;HP:0002164|Nail dysplasia;HP:0000218|High palate;HP:0007068|Inferior vermis hypoplasia;HP:0006101|Finger syndactyly;HP:0000407|Sensorineural hearing impairment;HP:0000612|Iris coloboma;HP:0001250|Seizures;HP:0000252|Microcephaly;HP:0000528|Anophthalmia;HP:0009623|Proximal placement of thumb;HP:0000556|Retinal dystrophy;HP:0000567|Chorioretinal coloboma;HP:0000864|Abnormality of the hypothalamus-pituitary axis;HP:0000482|Microcornea
keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	HP:0000982|Palmoplantar keratoderma;HP:0008064|Ichthyosis
heart defect-tongue hamartoma-polysyndactyly syndrome	HP:0000028|Cryptorchidism;HP:0001643|Patent ductus arteriosus;HP:0001682|Subaortic stenosis;HP:0011802|Hamartoma of tongue;HP:0100835|Benign neoplasm of the central nervous system;HP:0001233|2-3 finger syndactyly
amelogenesis imperfecta-gingival hyperplasia syndrome	HP:0000705|Amelogenesis imperfecta;HP:0001250|Seizures;HP:0001482|Subcutaneous nodule;HP:0000684|Delayed eruption of teeth;HP:0000574|Thick eyebrow;HP:0000169|Gingival fibromatosis;HP:0000534|Abnormality of the eyebrow;HP:0001249|Intellectual disability
krt14-related epidermolysis bullosa simplex	HP:0000670|Carious teeth;HP:0006297|Hypoplasia of dental enamel;HP:0001075|Atrophic scars;HP:0001056|Milia;HP:0000982|Palmoplantar keratoderma;HP:0008066|Abnormal blistering of the skin;HP:0001903|Anemia;HP:0008064|Ichthyosis;HP:0001510|Growth delay
monosomy 13q14	HP:0000470|Short neck;HP:0000568|Microphthalmia;HP:0000518|Cataract;HP:0002079|Hypoplasia of the corpus callosum;HP:0004322|Short stature;HP:0001360|Holoprosencephaly;HP:0000243|Trigonocephaly;HP:0007477|Abnormal dermatoglyphics;HP:0000508|Ptosis;HP:0001156|Brachydactyly syndrome;HP:0000347|Micrognathia;HP:0006101|Finger syndactyly;HP:0000369|Low-set ears;HP:0002564|Malformation of the heart and great vessels;HP:0000465|Webbed neck;HP:0000316|Hypertelorism;HP:0001511|Intrauterine growth retardation;HP:0000612|Iris coloboma;HP:0000286|Epicanthus;HP:0009919|Retinoblastoma;HP:0000252|Microcephaly;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0001249|Intellectual disability;HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0000411|Protruding ear;HP:0000426|Prominent nasal bridge;HP:0001252|Muscular hypotonia;HP:0011024|Abnormality of the gastrointestinal tract;HP:0000391|Thickened helices
ichthyosis-hypotrichosis syndrome	HP:0001006|Hypotrichosis;HP:0008064|Ichthyosis
glycogen storage disease due to glycogen debranching enzyme deficiency	HP:0001256|Intellectual disability, mild;HP:0002721|Immunodeficiency;HP:0004322|Short stature;HP:0000293|Full cheeks;HP:0001943|Hypoglycemia;HP:0003198|Myopathy;HP:0002155|Hypertriglyceridemia
tmem70-related mitochondrial encephalo-cardio-myopathy	HP:0000028|Cryptorchidism;HP:0001987|Hyperammonemia;HP:0001562|Oligohydramnios;HP:0002383|Encephalitis;HP:0001635|Congestive heart failure;HP:0000047|Hypospadias;HP:0001371|Flexion contracture;HP:0000154|Wide mouth;HP:0002342|Intellectual disability, moderate;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0000369|Low-set ears;HP:0001522|Death in infancy;HP:0001639|Hypertrophic cardiomyopathy;HP:0001511|Intrauterine growth retardation;HP:0002120|Cerebral cortical atrophy;HP:0001510|Growth delay;HP:0001250|Seizures;HP:0001646|Abnormality of the aortic valve;HP:0000077|Abnormality of the kidney;HP:0011675|Arrhythmia;HP:0000252|Microcephaly;HP:0001641|Abnormality of the pulmonary valve;HP:0011343|Moderate global developmental delay;HP:0002240|Hepatomegaly;HP:0000278|Retrognathia;HP:0000322|Short philtrum;HP:0002878|Respiratory failure;HP:0003535|3-Methylglutaconic aciduria;HP:0100490|Camptodactyly of finger;HP:0001252|Muscular hypotonia
alpha-thalassemia-x-linked intellectual disability syndrome	HP:0000028|Cryptorchidism;HP:0001274|Agenesis of corpus callosum;HP:0011800|Midface retrusion;HP:0000037|Male pseudohermaphroditism;HP:0100716|Self-injurious behavior;HP:0004322|Short stature;HP:0000545|Myopia;HP:0002019|Constipation;HP:0002251|Aganglionic megacolon;HP:0011902|Abnormal hemoglobin;HP:0000232|Everted lower lip vermilion;HP:0002383|Encephalitis;HP:0000010|Recurrent urinary tract infections;HP:0008736|Hypoplasia of penis;HP:0001156|Brachydactyly syndrome;HP:0001371|Flexion contracture;HP:0012736|Profound global developmental delay;HP:0000618|Blindness;HP:0000506|Telecanthus;HP:0001258|Spastic paraplegia;HP:0012368|Flat face;HP:0000126|Hydronephrosis;HP:0001762|Talipes equinovarus;HP:0000316|Hypertelorism;HP:0000158|Macroglossia;HP:0002017|Nausea and vomiting;HP:0000164|Abnormality of the teeth;HP:0001522|Death in infancy;HP:0002120|Cerebral cortical atrophy;HP:0002580|Volvulus;HP:0000062|Ambiguous genitalia;HP:0000407|Sensorineural hearing impairment;HP:0010804|Tented upper lip vermilion;HP:0001903|Anemia;HP:0000271|Abnormality of the face;HP:0008872|Feeding difficulties in infancy;HP:0002020|Gastroesophageal reflux;HP:0000708|Behavioral abnormality;HP:0000286|Epicanthus;HP:0001250|Seizures;HP:0010461|Abnormality of the male genitalia;HP:0000457|Depressed nasal ridge;HP:0010806|U-Shaped upper lip vermilion;HP:0000077|Abnormality of the kidney;HP:0000252|Microcephaly;HP:0100022|Abnormality of movement;HP:0000648|Optic atrophy;HP:0004209|Clinodactyly of the 5th finger;HP:0001249|Intellectual disability;HP:0000717|Autism;HP:0000179|Thick lower lip vermilion;HP:0001387|Joint stiffness;HP:0002357|Dysphasia;HP:0000463|Anteverted nares;HP:0000716|Depression;HP:0001252|Muscular hypotonia;HP:0011328|Abnormality of fontanelles
amelogenesis imperfecta-nephrocalcinosis syndrome	HP:0000705|Amelogenesis imperfecta;HP:0006286|Yellow-brown discoloration of the teeth;HP:0000682|Abnormality of dental enamel;HP:0011073|Abnormality of dental color;HP:0000121|Nephrocalcinosis;HP:0000112|Nephropathy;HP:0000684|Delayed eruption of teeth;HP:0100530|Abnormality of calcium-phosphate metabolism
growth delay due to insulin-like growth factor type 1 deficiency	HP:0008619|Bilateral sensorineural hearing impairment;HP:0006266|Small placenta;HP:0004322|Short stature;HP:0000545|Myopia;HP:0008846|Severe intrauterine growth retardation;HP:0000954|Single transverse palmar crease;HP:0008897|Postnatal growth retardation;HP:0000508|Ptosis;HP:0000135|Hypogonadism;HP:0000399|Prelingual sensorineural hearing impairment;HP:0000752|Hyperactivity;HP:0008527|Congenital sensorineural hearing impairment;HP:0000347|Micrognathia;HP:0001270|Motor delay;HP:0000855|Insulin resistance;HP:0001943|Hypoglycemia;HP:0000684|Delayed eruption of teeth;HP:0001511|Intrauterine growth retardation;HP:0030084|Clinodactyly;HP:0000407|Sensorineural hearing impairment;HP:0000736|Short attention span;HP:0001256|Intellectual disability, mild;HP:0000708|Behavioral abnormality;HP:0000153|Abnormality of the mouth;HP:0003265|Neonatal hyperbilirubinemia;HP:0001518|Small for gestational age;HP:0011120|Concave nasal ridge;HP:0000294|Low anterior hairline;HP:0000252|Microcephaly;HP:0000939|Osteoporosis;HP:0001999|Abnormal facial shape;HP:0001508|Failure to thrive;HP:0007018|Attention deficit hyperactivity disorder;HP:0004209|Clinodactyly of the 5th finger;HP:0001249|Intellectual disability;HP:0002162|Low posterior hairline;HP:0008850|Severe postnatal growth retardation;HP:0000957|Cafe-au-lait spot;HP:0007911|Congenital bilateral ptosis;HP:0002750|Delayed skeletal maturation;HP:0001956|Truncal obesity;HP:0011220|Prominent forehead
x-linked charcot-marie-tooth disease type 4	HP:0007141|Sensorimotor neuropathy;HP:0001251|Ataxia;HP:0000763|Sensory neuropathy;HP:0001288|Gait disturbance;HP:0001337|Tremor;HP:0002650|Scoliosis;HP:0001284|Areflexia;HP:0000365|Hearing impairment;HP:0002808|Kyphosis;HP:0002460|Distal muscle weakness;HP:0007328|Impaired pain sensation;HP:0000762|Decreased nerve conduction velocity;HP:0002360|Sleep disturbance;HP:0001761|Pes cavus;HP:0003202|Skeletal muscle atrophy;HP:0001249|Intellectual disability
mgat2-cdg	HP:0006887|Intellectual disability, progressive;HP:0010864|Intellectual disability, severe;HP:0000098|Tall stature
autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	HP:0011800|Midface retrusion;HP:0000520|Proptosis;HP:0000175|Cleft palate;HP:0000347|Micrognathia;HP:0000947|Dumbbell-shaped long bone;HP:0008905|Rhizomelia;HP:0002007|Frontal bossing;HP:0003016|Metaphyseal widening;HP:0002980|Femoral bowing;HP:0000162|Glossoptosis;HP:0003097|Short femur;HP:0001622|Premature birth;HP:0002781|Upper airway obstruction;HP:0000774|Narrow chest;HP:0000407|Sensorineural hearing impairment;HP:0000882|Hypoplastic scapulae;HP:0011003|Severe Myopia;HP:0002983|Micromelia;HP:0001156|Brachydactyly syndrome
17p11.2 microduplication syndrome	HP:0001263|Global developmental delay;HP:0200136|Oral-pharyngeal dysphagia;HP:0002079|Hypoplasia of the corpus callosum;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0000600|Abnormality of the pharynx;HP:0000337|Broad forehead;HP:0001260|Dysarthria;HP:0000347|Micrognathia;HP:0000154|Wide mouth;HP:0007010|Poor fine motor coordination;HP:0002564|Malformation of the heart and great vessels;HP:0006482|Abnormality of dental morphology;HP:0008499|High-grade hypermetropia;HP:0000316|Hypertelorism;HP:0000739|Anxiety;HP:0000494|Downslanted palpebral fissures;HP:0001256|Intellectual disability, mild;HP:0002020|Gastroesophageal reflux;HP:0002353|EEG abnormality;HP:0002474|Expressive language delay;HP:0002916|Abnormality of chromosome segregation;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0001508|Failure to thrive;HP:0007018|Attention deficit hyperactivity disorder;HP:0010529|Echolalia;HP:0000717|Autism;HP:0011098|Speech apraxia;HP:0010807|Open bite;HP:0002357|Dysphasia;HP:0010535|Sleep apnea;HP:0000325|Triangular face;HP:0000368|Low-set, posteriorly rotated ears;HP:0001252|Muscular hypotonia
familial clubfoot due to 17q23.1q23.2 microduplication	HP:0001800|Hypoplastic toenails;HP:0001385|Hip dysplasia;HP:0004322|Short stature;HP:0001762|Talipes equinovarus
acrodysostosis with multiple hormone resistance	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0011800|Midface retrusion;HP:0003165|Elevated circulating parathyroid hormone level;HP:0000851|Congenital hypothyroidism;HP:0004646|Hypoplasia of the nasal bone;HP:0000824|Growth hormone deficiency;HP:0005280|Depressed nasal bridge;HP:0000852|Pseudohypoparathyroidism;HP:0001156|Brachydactyly syndrome;HP:0000750|Delayed speech and language development;HP:0000047|Hypospadias;HP:0008479|Hypoplastic vertebral bodies;HP:0000135|Hypogonadism;HP:0000752|Hyperactivity;HP:0003502|Mild short stature;HP:0003456|Low urinary cyclic AMP response to PTH administration;HP:0000303|Mandibular prognathia;HP:0008450|Narrow vertebral interpedicular distance;HP:0005453|Absent/hypoplastic paranasal sinuses;HP:0002516|Increased intracranial pressure;HP:0001511|Intrauterine growth retardation;HP:0010049|Short metacarpal;HP:0001831|Short toe;HP:0000635|Blue irides;HP:0003528|Elevated calcitonin;HP:0002905|Hyperphosphatemia;HP:0005305|Cerebral venous thrombosis;HP:0002901|Hypocalcemia;HP:0002650|Scoliosis;HP:0002286|Fair hair;HP:0000272|Malar flattening;HP:0009803|Short phalanx of finger;HP:0000311|Round face;HP:0003416|Spinal canal stenosis;HP:0005616|Accelerated skeletal maturation;HP:0001249|Intellectual disability;HP:0000717|Autism;HP:0001513|Obesity;HP:0002297|Red hair;HP:0000463|Anteverted nares;HP:0000819|Diabetes mellitus;HP:0001328|Specific learning disability;HP:0008497|Congenital craniofacial dysostosis;HP:0010579|Cone-shaped epiphysis;HP:0010743|Short metatarsal
xq27.3q28 duplication syndrome	HP:0001256|Intellectual disability, mild;HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0000490|Deeply set eye;HP:0000771|Gynecomastia;HP:0002750|Delayed skeletal maturation;HP:0004322|Short stature;HP:0200055|Small hand;HP:0001773|Short foot;HP:0001956|Truncal obesity;HP:0001620|High pitched voice;HP:0002231|Sparse body hair;HP:0008734|Decreased testicular size;HP:0001508|Failure to thrive;HP:0000233|Thin vermilion border;HP:0001252|Muscular hypotonia;HP:0000414|Bulbous nose;HP:0001511|Intrauterine growth retardation;HP:0100805|Precocious menopause;HP:0000135|Hypogonadism
14q22q23 microdeletion syndrome	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0000520|Proptosis;HP:0001274|Agenesis of corpus callosum;HP:0004322|Short stature;HP:0000873|Diabetes insipidus;HP:0002119|Ventriculomegaly;HP:0000365|Hearing impairment;HP:0001770|Toe syndactyly;HP:0000248|Brachycephaly;HP:0010044|Short 4th metacarpal;HP:0000358|Posteriorly rotated ears;HP:0000508|Ptosis;HP:0007598|Bilateral single transverse palmar creases;HP:0000347|Micrognathia;HP:0006101|Finger syndactyly;HP:0000316|Hypertelorism;HP:0004279|Short palm;HP:0002714|Downturned corners of mouth;HP:0000384|Preauricular skin tag;HP:0010627|Anterior pituitary hypoplasia;HP:0001773|Short foot;HP:0000494|Downslanted palpebral fissures;HP:0000413|Atresia of the external auditory canal;HP:0000286|Epicanthus;HP:0000528|Anophthalmia;HP:0000046|Scrotal hypoplasia;HP:0000089|Renal hypoplasia;HP:0000272|Malar flattening;HP:0000835|Adrenal hypoplasia;HP:0004209|Clinodactyly of the 5th finger;HP:0000864|Abnormality of the hypothalamus-pituitary axis;HP:0001558|Decreased fetal movement;HP:0012521|Optic nerve aplasia;HP:0000348|High forehead;HP:0002750|Delayed skeletal maturation;HP:0000378|Cupped ear;HP:0001252|Muscular hypotonia;HP:0010047|Short 5th metacarpal;HP:0000430|Underdeveloped nasal alae
intellectual disability-developmental delay-contractures syndrome	HP:0001256|Intellectual disability, mild;HP:0001263|Global developmental delay;HP:0003693|Distal amyotrophy;HP:0000496|Abnormality of eye movement;HP:0000486|Strabismus;HP:0002167|Neurological speech impairment;HP:0002650|Scoliosis;HP:0000657|Oculomotor apraxia;HP:0005745|Congenital foot contractures;HP:0100022|Abnormality of movement;HP:0002808|Kyphosis;HP:0001376|Limitation of joint mobility;HP:0004209|Clinodactyly of the 5th finger;HP:0000508|Ptosis
myopathy due to calsequestrin and serca1 protein overload	HP:0003236|Elevated serum creatine phosphokinase;HP:0003198|Myopathy
alpha-thalassemia-myelodysplastic syndrome	HP:0001892|Abnormal bleeding;HP:0011903|Hemoglobin H;HP:0001744|Splenomegaly;HP:0002094|Dyspnea;HP:0001873|Thrombocytopenia;HP:0002721|Immunodeficiency;HP:0012378|Fatigue;HP:0002488|Acute leukemia;HP:0002863|Myelodysplasia;HP:0000978|Bruising susceptibility;HP:0001875|Neutropenia;HP:0001935|Microcytic anemia
deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0001263|Global developmental delay;HP:0001973|Autoimmune thrombocytopenia;HP:0002920|Decreased circulating ACTH level;HP:0008404|Nail dystrophy;HP:0002110|Bronchiectasis;HP:0005364|Severe viral infections;HP:0012378|Fatigue;HP:0001045|Vitiligo;HP:0002788|Recurrent upper respiratory tract infections;HP:0011108|Recurrent sinusitis;HP:0000824|Growth hormone deficiency;HP:0006532|Recurrent pneumonia;HP:0100806|Sepsis;HP:0030353|Decreased serum insulin-like growth factor 1;HP:0100646|Thyroiditis;HP:0007418|Alopecia totalis;HP:0002902|Hyponatremia;HP:0002615|Hypotension;HP:0002837|Recurrent bronchitis;HP:0003765|Psoriasis;HP:0004313|Decreased antibody level in blood;HP:0030349|Decreased circulating androgen level;HP:0100776|Recurrent pharyngitis;HP:0012140|Abnormality of cells of the lymphoid lineage;HP:0012504|Abnormal size of pituitary gland;HP:0001325|Hypoglycemic coma;HP:0000403|Recurrent otitis media;HP:0011735|Adrenocorticotropin deficient adrenal insufficiency;HP:0005365|Severe B lymphocytopenia;HP:0100803|Abnormality of the periungual region;HP:0001508|Failure to thrive;HP:0002153|Hyperkalemia;HP:0000651|Diplopia;HP:0030057|Autoimmune antibody positivity;HP:0001988|Recurrent hypoglycemia;HP:0001596|Alopecia;HP:0008220|Hypocortisolemia;HP:0002121|Absence seizures
non-acquired combined pituitary hormone deficiency with spine abnormalities	HP:0012287|Hypothalamic luteinizing hormone-releasing hormone deficiency;HP:0000470|Short neck;HP:0003423|Thoracolumbar kyphoscoliosis;HP:0011748|Adrenocorticotropic hormone deficiency;HP:0004322|Short stature;HP:0008213|Gonadotropin deficiency;HP:0000824|Growth hormone deficiency;HP:0000407|Sensorineural hearing impairment;HP:0010627|Anterior pituitary hypoplasia;HP:0008245|Pituitary hypothyroidism
wolfram-like syndrome	HP:0000863|Central diabetes insipidus;HP:0003477|Peripheral axonal neuropathy;HP:0002579|Gastrointestinal dysmotility;HP:0010935|Abnormality of the upper urinary tract;HP:0008527|Congenital sensorineural hearing impairment;HP:0002073|Progressive cerebellar ataxia;HP:0000739|Anxiety;HP:0000026|Male hypogonadism;HP:0000729|Autistic behavior;HP:0000833|Glucose intolerance;HP:0002093|Respiratory insufficiency;HP:0000709|Psychosis;HP:0000726|Dementia;HP:0000648|Optic atrophy;HP:0000823|Delayed puberty;HP:0008850|Severe postnatal growth retardation;HP:0008193|Primary gonadal insufficiency;HP:0000819|Diabetes mellitus;HP:0000716|Depression;HP:0000377|Abnormality of the pinna;HP:0000501|Glaucoma;HP:0000821|Hypothyroidism
choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome	HP:0004502|Bilateral choanal atresia;HP:0000426|Prominent nasal bridge;HP:0000504|Abnormality of vision;HP:0003196|Short nose;HP:0004322|Short stature;HP:0000316|Hypertelorism;HP:0012745|Short palpebral fissure;HP:0000174|Abnormality of the palate;HP:0000431|Wide nasal bridge;HP:0001671|Abnormality of the cardiac septa;HP:0000478|Abnormality of the eye
gingival fibromatosis-hypertrichosis syndrome	HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0001251|Ataxia;HP:0100543|Cognitive impairment;HP:0001007|Hirsutism;HP:0000664|Synophrys;HP:0000280|Coarse facial features;HP:0000164|Abnormality of the teeth;HP:0000212|Gingival overgrowth;HP:0000574|Thick eyebrow;HP:0000684|Delayed eruption of teeth;HP:0002230|Generalized hirsutism;HP:0000169|Gingival fibromatosis
knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome	HP:0000407|Sensorineural hearing impairment;HP:0001482|Subcutaneous nodule;HP:0000962|Hyperkeratosis;HP:0000982|Palmoplantar keratoderma;HP:0001820|Leukonychia
familial thoracic aortic aneurysm and aortic dissection	HP:0005296|Occlusive vascular disease;HP:0200146|Cystic medial necrosis of the aorta;HP:0001297|Stroke;HP:0003549|Abnormality of connective tissue;HP:0000978|Bruising susceptibility;HP:0001166|Arachnodactyly;HP:0001659|Aortic regurgitation;HP:0004954|Descending aortic aneurysm;HP:0004933|Ascending aortic dissection;HP:0001677|Coronary artery disease;HP:0002140|Ischemic stroke;HP:0000766|Abnormality of the sternum;HP:0005162|Left ventricular failure;HP:0000098|Tall stature;HP:0000965|Cutis marmorata;HP:0012163|Carotid artery aneurysm;HP:0012763|Paroxysmal dyspnea;HP:0002686|Prenatal maternal abnormality;HP:0100775|Dural ectasia;HP:0000316|Hypertelorism;HP:0000822|Hypertension;HP:0001643|Patent ductus arteriosus;HP:0002138|Subarachnoid hemorrhage;HP:0001640|Cardiomegaly;HP:0005309|Peripheral vascular insufficiency;HP:0002105|Hemoptysis;HP:0005315|Occlusive arterial disease;HP:0002647|Aortic dissection;HP:0000525|Abnormality of the iris;HP:0002875|Exertional dyspnea;HP:0002107|Pneumothorax;HP:0001647|Bicuspid aortic valve;HP:0002650|Scoliosis;HP:0004944|Cerebral aneurysm;HP:0011106|Hypovolemia;HP:0000023|Inguinal hernia;HP:0000278|Retrognathia;HP:0002705|High, narrow palate;HP:0002326|Transient ischemic attack;HP:0002631|Ascending aortic aneurysm;HP:0100749|Chest pain;HP:0001763|Pes planus;HP:0012499|Descending aortic dissection;HP:0004953|Abdominal aortic aneurysm
x-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	HP:0000028|Cryptorchidism;HP:0100716|Self-injurious behavior;HP:0001601|Laryngomalacia;HP:0000954|Single transverse palmar crease;HP:0000678|Dental crowding;HP:0000047|Hypospadias;HP:0006466|Ankle contracture;HP:0006101|Finger syndactyly;HP:0000303|Mandibular prognathia;HP:0000407|Sensorineural hearing impairment;HP:0002719|Recurrent infections;HP:0002020|Gastroesophageal reflux;HP:0001250|Seizures;HP:0012033|Sacral lipoma;HP:0004415|Pulmonary artery stenosis;HP:0000252|Microcephaly;HP:0001182|Tapered finger;HP:0001999|Abnormal facial shape;HP:0008850|Severe postnatal growth retardation;HP:0012385|Camptodactyly;HP:0000411|Protruding ear;HP:0000219|Thin upper lip vermilion;HP:0006380|Knee flexion contracture;HP:0009796|Branchial cyst;HP:0001252|Muscular hypotonia
combined immunodeficiency due to dock8 deficiency	HP:0002860|Squamous cell carcinoma;HP:0001047|Atopic dermatitis;HP:0005364|Severe viral infections;HP:0012203|Onychomycosis;HP:0005406|Recurrent bacterial skin infections;HP:0000389|Chronic otitis media;HP:0005401|Recurrent candida infections;HP:0011108|Recurrent sinusitis;HP:0010976|B lymphocytopenia;HP:0200042|Skin ulcer;HP:0002090|Pneumonia;HP:0004429|Recurrent viral infections;HP:0005403|Decrease in T cell count;HP:0002099|Asthma;HP:0006763|Anal canal squamous carcinoma;HP:0200043|Verrucae;HP:0003212|Increased IgE level;HP:0002205|Recurrent respiratory infections
short stature due to ghsr deficiency	HP:0004325|Decreased body weight;HP:0002013|Vomiting;HP:0002750|Delayed skeletal maturation;HP:0004322|Short stature;HP:0001946|Ketosis;HP:0002027|Abdominal pain;HP:0004323|Abnormality of body weight;HP:0001943|Hypoglycemia;HP:0000823|Delayed puberty;HP:0030353|Decreased serum insulin-like growth factor 1;HP:0001510|Growth delay
familial  hyperprolactinemia	HP:0000132|Menorrhagia;HP:0100829|Galactorrhea;HP:0000141|Amenorrhea;HP:0000789|Infertility;HP:0012886|Hemorrhagic ovarian cyst;HP:0000938|Osteopenia;HP:0000134|Female hypogonadism;HP:0000939|Osteoporosis;HP:0000876|Oligomenorrhea
camos syndrome	HP:0001250|Seizures;HP:0001257|Spasticity;HP:0012444|Brain atrophy;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0001251|Ataxia;HP:0001270|Motor delay;HP:0000252|Microcephaly;HP:0000951|Abnormality of the skin;HP:0000100|Nephrotic syndrome;HP:0007153|Progressive extrapyramidal movement disorder;HP:0001249|Intellectual disability;HP:0000648|Optic atrophy;HP:0001252|Muscular hypotonia;HP:0001260|Dysarthria;HP:0000083|Renal insufficiency
glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0001626|Abnormality of the cardiovascular system;HP:0003236|Elevated serum creatine phosphokinase;HP:0003198|Myopathy;HP:0000083|Renal insufficiency
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	HP:0000028|Cryptorchidism;HP:0000786|Primary amenorrhea;HP:0000037|Male pseudohermaphroditism;HP:0000033|Ambiguous genitalia, male;HP:0000815|Hypergonadotropic hypogonadism;HP:0004322|Short stature;HP:0008734|Decreased testicular size;HP:0040171|Decreased serum testosterone level;HP:0008730|Female external genitalia in individual with 46,XY karyotype;HP:0012244|Abnormal sex determination;HP:0002225|Sparse pubic hair;HP:0008163|Decreased circulating cortisol level;HP:0000047|Hypospadias;HP:0003115|Abnormal EKG;HP:0002215|Sparse axillary hair;HP:0000822|Hypertension;HP:0011969|Elevated luteinizing hormone;HP:0002231|Sparse body hair;HP:0030349|Decreased circulating androgen level;HP:0011105|Hypervolemia;HP:0000147|Polycystic ovaries;HP:0000859|Hyperaldosteronism;HP:0040085|Abnormal circulating aldosterone;HP:0003351|Decreased circulating renin level;HP:0007440|Generalized hyperpigmentation;HP:0100607|Dysmenorrhea;HP:0000013|Hypoplasia of the uterus;HP:0003154|Increased circulating ACTH level;HP:0000771|Gynecomastia;HP:0012113|Abnormality of creatine metabolism;HP:0002900|Hypokalemia;HP:0000868|Decreased fertility in females;HP:0008187|Absence of secondary sex characteristics;HP:0000939|Osteoporosis;HP:0011749|Adrenocorticotropic hormone excess;HP:0001508|Failure to thrive;HP:0000823|Delayed puberty;HP:0002616|Aortic root dilatation;HP:0008675|Enlarged polycystic ovaries;HP:0008726|Hypoplasia of the vagina;HP:0002750|Delayed skeletal maturation;HP:0008193|Primary gonadal insufficiency;HP:0008258|Congenital adrenal hyperplasia;HP:0008207|Primary adrenal insufficiency;HP:0008214|Decreased serum estradiol;HP:0012041|Decreased fertility in males;HP:0004349|Reduced bone mineral density;HP:0000054|Micropenis;HP:0000144|Decreased fertility;HP:0008232|Elevated follicle stimulating hormone
microcephalic primordial dwarfism-insulin resistance syndrome	HP:0010620|Malar prominence;HP:0000347|Micrognathia;HP:0008193|Primary gonadal insufficiency;HP:0000541|Retinal detachment;HP:0007875|Congenital blindness;HP:0008890|Severe short-limb dwarfism;HP:0002155|Hypertriglyceridemia;HP:0001397|Hepatic steatosis;HP:0000831|Insulin-resistant diabetes mellitus
multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0003100|Slender long bone;HP:0000520|Proptosis;HP:0004326|Cachexia;HP:0000347|Micrognathia;HP:0001288|Gait disturbance;HP:0000506|Telecanthus;HP:0001504|Metacarpal osteolysis;HP:0001225|Wrist swelling;HP:0001495|Carpal osteolysis;HP:0003457|EMG abnormality;HP:0003019|Abnormality of the wrist;HP:0002797|Osteolysis;HP:0000325|Triangular face;HP:0000112|Nephropathy;HP:0002714|Downturned corners of mouth;HP:0005930|Abnormality of epiphysis morphology;HP:0100490|Camptodactyly of finger;HP:0001376|Limitation of joint mobility;HP:0000431|Wide nasal bridge;HP:0000093|Proteinuria;HP:0001561|Polyhydramnios
carbamoyl-phosphate synthetase 1 deficiency	HP:0001250|Seizures;HP:0005961|Hypoargininemia;HP:0002093|Respiratory insufficiency;HP:0001987|Hyperammonemia;HP:0001951|Episodic ammonia intoxication;HP:0003355|Aminoaciduria;HP:0001252|Muscular hypotonia
glycogen storage disease due to muscle phosphofructokinase deficiency	HP:0001324|Muscle weakness;HP:0002149|Hyperuricemia;HP:0002486|Myotonia;HP:0009051|Increased muscle glycogen content;HP:0001903|Anemia;HP:0003202|Skeletal muscle atrophy
dpagt1-cdg	HP:0001263|Global developmental delay;HP:0001250|Seizures;HP:0000347|Micrognathia;HP:0000252|Microcephaly;HP:0001252|Muscular hypotonia;HP:0004209|Clinodactyly of the 5th finger;HP:0001249|Intellectual disability
isolated sedoheptulokinase deficiency	HP:0000239|Large fontanelles;HP:0004322|Short stature;HP:0002119|Ventriculomegaly;HP:0100886|Abnormality of globe location;HP:0000601|Hypotelorism;HP:0001540|Diastasis recti;HP:0000083|Renal insufficiency;HP:0001371|Flexion contracture;HP:0011400|Abnormal CNS myelination;HP:0001409|Portal hypertension;HP:0012157|Subcortical cerebral atrophy;HP:0004840|Hypochromic microcytic anemia;HP:0002804|Arthrogryposis multiplex congenita;HP:0001903|Anemia;HP:0011998|Postprandial hyperglycemia;HP:0002611|Cholestatic liver disease;HP:0000256|Macrocephaly;HP:0001396|Cholestasis;HP:0000586|Shallow orbits;HP:0012768|Neonatal asphyxia;HP:0000023|Inguinal hernia;HP:0008850|Severe postnatal growth retardation;HP:0002570|Steatorrhea;HP:0001385|Hip dysplasia;HP:0001623|Breech presentation;HP:0000348|High forehead;HP:0012115|Hepatitis;HP:0000091|Abnormality of the renal tubule
ehlers-danlos syndrome type 7a	HP:0000963|Thin skin;HP:0001075|Atrophic scars;HP:0001324|Muscle weakness;HP:0004322|Short stature;HP:0005692|Joint hyperflexibility;HP:0000974|Hyperextensible skin
generalized dominant dystrophic epidermolysis bullosa	HP:0000670|Carious teeth;HP:0001075|Atrophic scars;HP:0004334|Dermal atrophy;HP:0200037|Skin vesicle;HP:0000016|Urinary retention;HP:0001053|Hypopigmented skin patches;HP:0002015|Dysphagia;HP:0012227|Urethral stricture;HP:0200020|Corneal erosion;HP:0001056|Milia;HP:0002043|Esophageal stricture;HP:0001231|Abnormality of the fingernails;HP:0100825|Cheilitis;HP:0001903|Anemia;HP:0008388|Abnormality of the toenails
uveal coloboma-cleft lip and palate-intellectual disability	HP:0000639|Nystagmus;HP:0002744|Bilateral cleft lip and palate;HP:0000567|Chorioretinal coloboma;HP:0007957|Corneal opacity;HP:0000568|Microphthalmia;HP:0000505|Visual impairment;HP:0000518|Cataract;HP:0000501|Glaucoma;HP:0000486|Strabismus;HP:0000541|Retinal detachment;HP:0000627|Posterior embryotoxon;HP:0000648|Optic atrophy;HP:0000790|Hematuria;HP:0000407|Sensorineural hearing impairment;HP:0000508|Ptosis;HP:0000612|Iris coloboma;HP:0001249|Intellectual disability
familial hyperthyroidism due to mutations in tsh receptor	HP:0000752|Hyperactivity;HP:0001263|Global developmental delay;HP:0000853|Goiter;HP:0011784|Thyrotoxicosis with diffuse goiter;HP:0000520|Proptosis;HP:0001270|Motor delay;HP:0005616|Accelerated skeletal maturation;HP:0011790|Activating thyroid-stimulating hormone receptor (TSHR) defect;HP:0002014|Diarrhea;HP:0001518|Small for gestational age;HP:0002378|Hand tremor;HP:0012372|Abnormal eye morphology;HP:0001824|Weight loss;HP:0000713|Agitation;HP:0030057|Autoimmune antibody positivity;HP:0008249|Thyroid hyperplasia;HP:0002360|Sleep disturbance;HP:0001673|Tachycardia (with pheochromocytoma);HP:0000836|Hyperthyroidism
lipe-related familial partial lipodystrophy	HP:0009017|Loss of gluteal subcutaneous adipose tissue;HP:0000831|Insulin-resistant diabetes mellitus;HP:0000956|Acanthosis nigricans;HP:0012881|Abnormality of the labia majora;HP:0003236|Elevated serum creatine phosphokinase;HP:0009042|Marked muscular hypertrophy;HP:0003635|Loss of subcutaneous adipose tissue in limbs;HP:0000855|Insulin resistance;HP:0008994|Proximal muscle weakness in lower limbs;HP:0000468|Increased adipose tissue around the neck;HP:0009125|Lipodystrophy;HP:0030685|Decreased adiponectin level;HP:0002155|Hypertriglyceridemia;HP:0002240|Hepatomegaly;HP:0000876|Oligomenorrhea;HP:0000147|Polycystic ovaries;HP:0008993|Increased intraabdominal fat;HP:0001397|Hepatic steatosis;HP:0008997|Proximal muscle weakness in upper limbs;HP:0008356|Combined hyperlipidemia;HP:0003292|Decreased serum leptin
autosomal erythropoietic protoporphyria	HP:0010783|Erythema;HP:0001394|Cirrhosis;HP:0001081|Cholelithiasis;HP:0010472|Abnormality of the heme biosynthetic pathway;HP:0000992|Cutaneous photosensitivity;HP:0001410|Decreased liver function;HP:0000989|Pruritus;HP:0000964|Eczema;HP:0001935|Microcytic anemia;HP:0000969|Edema
familial multiple nevi flammei	HP:0100026|Arteriovenous malformation;HP:0000501|Glaucoma;HP:0001269|Hemiparesis;HP:0002204|Pulmonary embolism;HP:0001291|Abnormality of the cranial nerves;HP:0200042|Skin ulcer;HP:0001052|Nevus flammeus;HP:0001250|Seizures;HP:0004936|Venous thrombosis;HP:0002301|Hemiplegia;HP:0007400|Irregular hyperpigmentation;HP:0002650|Scoliosis;HP:0002814|Abnormality of the lower limb;HP:0005293|Venous insufficiency;HP:0011675|Arrhythmia;HP:0002514|Cerebral calcification;HP:0001249|Intellectual disability;HP:0001034|Hypermelanotic macule;HP:0100559|Lower limb asymmetry;HP:0002817|Abnormality of the upper limb;HP:0200034|Papule;HP:0002170|Intracranial hemorrhage;HP:0000969|Edema
alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0010864|Intellectual disability, severe;HP:0000944|Abnormality of the metaphyses;HP:0000545|Myopia;HP:0000365|Hearing impairment;HP:0000233|Thin vermilion border;HP:0005280|Depressed nasal bridge;HP:0002907|Microscopic hematuria;HP:0000093|Proteinuria;HP:0000083|Renal insufficiency;HP:0100820|Glomerulopathy;HP:0000486|Strabismus;HP:0001643|Patent ductus arteriosus;HP:0012471|Thick vermilion border;HP:0000494|Downslanted palpebral fissures;HP:0001646|Abnormality of the aortic valve;HP:0001182|Tapered finger;HP:0000272|Malar flattening;HP:0001595|Abnormality of the hair;HP:0004445|Elliptocytosis;HP:0000463|Anteverted nares;HP:0001252|Muscular hypotonia;HP:0011069|Increased number of teeth
maternally-inherited cardiomyopathy and hearing loss	HP:0003200|Ragged-red muscle fibers;HP:0002094|Dyspnea;HP:0001012|Multiple lipomas;HP:0012378|Fatigue;HP:0001268|Mental deterioration;HP:0030680|Abnormality of cardiovascular system morphology;HP:0012514|Lower limb pain;HP:0001644|Dilated cardiomyopathy;HP:0000590|Progressive external ophthalmoplegia;HP:0001635|Congestive heart failure;HP:0003326|Myalgia;HP:0001251|Ataxia;HP:0009830|Peripheral neuropathy;HP:0000822|Hypertension;HP:0001639|Hypertrophic cardiomyopathy;HP:0000407|Sensorineural hearing impairment;HP:0003542|Increased serum pyruvate;HP:0001288|Gait disturbance;HP:0011342|Mild global developmental delay;HP:0001350|Slurred speech;HP:0003457|EMG abnormality;HP:0002373|Febrile seizures;HP:0003546|Exercise intolerance;HP:0000597|Ophthalmoparesis;HP:0001298|Encephalopathy;HP:0001324|Muscle weakness;HP:0001347|Hyperreflexia;HP:0100749|Chest pain;HP:0009126|Increased adipose tissue;HP:0002151|Increased serum lactate
familial lambdoid synostosis	HP:0001357|Plagiocephaly;HP:0000411|Protruding ear;HP:0000324|Facial asymmetry;HP:0000506|Telecanthus;HP:0005469|Flat occiput;HP:0000581|Blepharophimosis;HP:0010751|Chin dimple;HP:0100830|Round ear;HP:0011220|Prominent forehead;HP:0001252|Muscular hypotonia;HP:0008572|External ear malformation;HP:0004446|Stomatocytosis;HP:0000238|Hydrocephalus;HP:0002714|Downturned corners of mouth;HP:0001276|Hypertonia;HP:0001249|Intellectual disability
autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	HP:0001973|Autoimmune thrombocytopenia;HP:0001744|Splenomegaly;HP:0001297|Stroke;HP:0002716|Lymphadenopathy;HP:0000403|Recurrent otitis media;HP:0011947|Respiratory tract infection;HP:0002960|Autoimmunity;HP:0011343|Moderate global developmental delay;HP:0001890|Autoimmune hemolytic anemia;HP:0001269|Hemiparesis;HP:0001888|Lymphopenia;HP:0012115|Hepatitis;HP:0002725|Systemic lupus erythematosus;HP:0001878|Hemolytic anemia
intrauterine growth restriction-short stature-early adult-onset diabetes syndrome	HP:0008734|Decreased testicular size;HP:0004322|Short stature;HP:0001511|Intrauterine growth retardation
short stature due to partial ghr deficiency	HP:0011800|Midface retrusion;HP:0002750|Delayed skeletal maturation;HP:0004322|Short stature;HP:0001943|Hypoglycemia;HP:0000823|Delayed puberty;HP:0030353|Decreased serum insulin-like growth factor 1;HP:0001510|Growth delay
genetic transient congenital hypothyroidism	HP:0000851|Congenital hypothyroidism;HP:0002925|Thyroid-stimulating hormone excess;HP:0000853|Goiter;HP:0012560|Decreased T3/T4 ratio;HP:0000821|Hypothyroidism
fgfr2-related bent bone dysplasia	HP:0000894|Short clavicles;HP:0011800|Midface retrusion;HP:0000695|Natal tooth;HP:0000356|Abnormality of the outer ear;HP:0004453|Overfolding of the superior helices;HP:0002979|Bowing of the legs;HP:0011223|Metopic depression;HP:0030042|Incomplete ossification of pubis;HP:0001156|Brachydactyly syndrome;HP:0000347|Micrognathia;HP:0001433|Hepatosplenomegaly;HP:0000369|Low-set ears;HP:0005474|Decreased calvarial ossification;HP:0000316|Hypertelorism;HP:0010455|Steep acetabular roof;HP:0003175|Hypoplastic ischia;HP:0007642|Congenital stationary night blindness;HP:0002814|Abnormality of the lower limb;HP:0000938|Osteopenia;HP:0000057|Clitoromegaly;HP:0040166|Abnormality of the periosteum;HP:0000485|Megalocornea;HP:0001591|Bell-shaped thorax;HP:0001007|Hirsutism;HP:0000212|Gingival overgrowth;HP:0001978|Extramedullary hematopoiesis;HP:0004440|Coronal craniosynostosis
linear nevus sebaceus syndrome	HP:0001357|Plagiocephaly;HP:0000568|Microphthalmia;HP:0001048|Cavernous hemangioma;HP:0002119|Ventriculomegaly;HP:0100555|Asymmetric growth;HP:0002132|Porencephaly;HP:0009720|Adenoma sebaceum;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0000506|Telecanthus;HP:0002007|Frontal bossing;HP:0001315|Reduced tendon reflexes;HP:0002816|Genu recurvatum;HP:0001510|Growth delay;HP:0000612|Iris coloboma;HP:0002353|EEG abnormality;HP:0000478|Abnormality of the eye;HP:0001250|Seizures;HP:0000324|Facial asymmetry;HP:0007400|Irregular hyperpigmentation;HP:0002514|Cerebral calcification;HP:0001305|Dandy-Walker malformation;HP:0000995|Melanocytic nevus;HP:0001249|Intellectual disability;HP:0000504|Abnormality of vision;HP:0000269|Prominent occiput;HP:0001596|Alopecia;HP:0003422|Vertebral segmentation defect;HP:0001347|Hyperreflexia;HP:0004422|Biparietal narrowing;HP:0001252|Muscular hypotonia
congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0000028|Cryptorchidism;HP:0001061|Acne;HP:0000037|Male pseudohermaphroditism;HP:0002013|Vomiting;HP:0000033|Ambiguous genitalia, male;HP:0008226|Androgen insufficiency;HP:0100879|Enlarged ovaries;HP:0001998|Neonatal hypoglycemia;HP:0008734|Decreased testicular size;HP:0002924|Decreased circulating aldosterone level;HP:0008730|Female external genitalia in individual with 46,XY karyotype;HP:0012244|Abnormal sex determination;HP:0000848|Increased circulating renin level;HP:0012605|Hypernatriuria;HP:0008163|Decreased circulating cortisol level;HP:0000047|Hypospadias;HP:0000051|Perineal hypospadias;HP:0000855|Insulin resistance;HP:0002902|Hyponatremia;HP:0001941|Acidosis;HP:0002615|Hypotension;HP:0011969|Elevated luteinizing hormone;HP:0001944|Dehydration;HP:0000140|Abnormality of the menstrual cycle;HP:0000062|Ambiguous genitalia;HP:0000147|Polycystic ovaries;HP:0012412|Premature adrenarche;HP:0000048|Bifid scrotum;HP:0007440|Generalized hyperpigmentation;HP:0011968|Feeding difficulties;HP:0000840|Adrenogenital syndrome;HP:0003154|Increased circulating ACTH level;HP:0000771|Gynecomastia;HP:0001952|Abnormal glucose tolerance;HP:0000833|Glucose intolerance;HP:0011106|Hypovolemia;HP:0000868|Decreased fertility in females;HP:0000057|Clitoromegaly;HP:0000061|Ambiguous genitalia, female;HP:0000939|Osteoporosis;HP:0008187|Absence of secondary sex characteristics;HP:0011749|Adrenocorticotropic hormone excess;HP:0000823|Delayed puberty;HP:0002153|Hyperkalemia;HP:0004924|Abnormal oral glucose tolerance;HP:0005616|Accelerated skeletal maturation;HP:0030258|Hyperpigmented genitalia;HP:0008675|Enlarged polycystic ovaries;HP:0011742|Ectopic adrenal gland;HP:0000142|Abnormality of the vagina;HP:0012881|Abnormality of the labia majora;HP:0000127|Renal salt wasting;HP:0002750|Delayed skeletal maturation;HP:0001007|Hirsutism;HP:0100779|Urogenital sinus anomaly;HP:0008258|Congenital adrenal hyperplasia;HP:0008207|Primary adrenal insufficiency;HP:0012041|Decreased fertility in males;HP:0004349|Reduced bone mineral density;HP:0000144|Decreased fertility;HP:0008232|Elevated follicle stimulating hormone
isolated pierre robin syndrome	HP:0000175|Cleft palate;HP:0000347|Micrognathia;HP:0000162|Glossoptosis;HP:0002781|Upper airway obstruction;HP:0000600|Abnormality of the pharynx;HP:0002643|Neonatal respiratory distress
myoclonic-astastic epilepsy	HP:0001263|Global developmental delay;HP:0002133|Status epilepticus;HP:0001268|Mental deterioration;HP:0002376|Developmental regression;HP:0001260|Dysarthria;HP:0001251|Ataxia;HP:0000718|Aggressive behavior;HP:0200134|Epileptic encephalopathy;HP:0011203|EEG with abnormally slow frequencies;HP:0000729|Autistic behavior;HP:0010819|Atonic seizures;HP:0002373|Febrile seizures;HP:0012658|Abnormal brain FDG positron emission tomography;HP:0002069|Generalized tonic-clonic seizures;HP:0007087|Involuntary jerking movements;HP:0011170|Myoclonic atonic seizures;HP:0100710|Impulsivity;3.5 Hz);HP:0002121|Absence seizures;HP:0010849|EEG with spike-wave complexes (&gt;HP:0002123|Generalized myoclonic seizures;HP:0007207|Photosensitive tonic-clonic seizures
severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency	HP:0002591|Polyphagia;HP:0002910|Elevated hepatic transaminases;HP:0001513|Obesity;HP:0000735|Impaired social interactions;HP:0000842|Hyperinsulinemia;HP:0004322|Short stature;HP:0003074|Hyperglycemia;HP:0003077|Hyperlipidemia;HP:0000718|Aggressive behavior;HP:0008763|No social interaction;HP:0000750|Delayed speech and language development
x-linked charcot-marie-tooth disease type 1	HP:0002463|Language impairment;HP:0001251|Ataxia;HP:0000763|Sensory neuropathy;HP:0001288|Gait disturbance;HP:0008944|Distal lower limb amyotrophy;HP:0001337|Tremor;HP:0001761|Pes cavus;HP:0002650|Scoliosis;HP:0001284|Areflexia;HP:0000365|Hearing impairment;HP:0040129|Abnormal nerve conduction velocity;HP:0002808|Kyphosis;HP:0007328|Impaired pain sensation;HP:0001262|Excessive daytime somnolence;HP:0001260|Dysarthria;HP:0007149|Distal upper limb amyotrophy
congenital bile acid synthesis defect type 2	HP:0001892|Abnormal bleeding;HP:0006566|Neonatal cholestatic liver disease;HP:0002910|Elevated hepatic transaminases;HP:0001744|Splenomegaly;HP:0100626|Chronic hepatic failure;HP:0001394|Cirrhosis;HP:0000939|Osteoporosis;HP:0001080|Biliary tract abnormality;HP:0000952|Jaundice;HP:0002240|Hepatomegaly;HP:0002024|Malabsorption
autosomal dominant congenital benign spinal muscular atrophy	HP:0008964|Nonprogressive muscular atrophy;HP:0004326|Cachexia;HP:0001387|Joint stiffness;HP:0003693|Distal amyotrophy;HP:0001252|Muscular hypotonia
mandibulofacial dysostosis-microcephaly syndrome	HP:0000356|Abnormality of the outer ear;HP:0003196|Short nose;HP:0004322|Short stature;HP:0005484|Postnatal microcephaly;HP:0000243|Trigonocephaly;HP:0001631|Atrial septal defect;HP:0000750|Delayed speech and language development;HP:0000582|Upslanted palpebral fissure;HP:0000347|Micrognathia;HP:0000506|Telecanthus;HP:0000369|Low-set ears;HP:0009748|Large earlobe;HP:0000384|Preauricular skin tag;HP:0011968|Feeding difficulties;HP:0000396|Overfolded helix;HP:0008609|Morphological abnormality of the middle ear;HP:0000413|Atresia of the external auditory canal;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0001177|Preaxial hand polydactyly;HP:0009738|Abnormality of the antihelix;HP:0000327|Hypoplasia of the maxilla;HP:0011268|Absent tragus;HP:0000191|Accessory oral frenulum;HP:0000272|Malar flattening;HP:0000405|Conductive hearing impairment;HP:0001249|Intellectual disability;HP:0008551|Microtia;HP:0011272|Underdeveloped tragus
cidec-related familial partial lipodystrophy	HP:0000831|Insulin-resistant diabetes mellitus;HP:0009017|Loss of gluteal subcutaneous adipose tissue;HP:0000956|Acanthosis nigricans;HP:0009042|Marked muscular hypertrophy;HP:0003635|Loss of subcutaneous adipose tissue in limbs;HP:0001733|Pancreatitis;HP:0008981|Calf muscle hypertrophy;HP:0000292|Loss of facial adipose tissue;HP:0030685|Decreased adiponectin level;HP:0001397|Hepatic steatosis;HP:0009125|Lipodystrophy;HP:0002155|Hypertriglyceridemia;HP:0000147|Polycystic ovaries;HP:0002240|Hepatomegaly;HP:0003292|Decreased serum leptin;HP:0008356|Combined hyperlipidemia;HP:0000876|Oligomenorrhea
familial digital arthropathy-brachydactyly	HP:0004268|Osteoarthritis of the small joints of the hand;HP:0006239|Shortening of all middle phalanges of the toes;HP:0005819|Short middle phalanx of finger;HP:0005793|Shortening of all distal phalanges of the toes;HP:0009882|Short distal phalanx of finger;HP:0001156|Brachydactyly syndrome
spinocerebellar degeneration with macular corneal dystrophy, congenitalcataracts, and myopia	HP:0001131|Corneal dystrophy;HP:0002503|Spinocerebellar tract degeneration;HP:0000519|Cataracts, lenticular, bilateral;HP:0002497|Spastic ataxia;HP:0000545|Near sightedness
20q11.2 microdeletion syndrome	HP:0001263|Global developmental delay;HP:0000322|Short philtrum;HP:0000490|Deeply set eye;HP:0000708|Behavioral abnormality;HP:0011800|Midface retrusion;HP:0012385|Camptodactyly;HP:0001884|Talipes calcaneovalgus;HP:0002007|Frontal bossing;HP:0000348|High forehead;HP:0002508|Brainstem dysplasia;HP:0000316|Hypertelorism;HP:0000365|Hearing impairment;HP:0001181|Adducted thumb;HP:0000598|Abnormality of the ear;HP:0001156|Brachydactyly syndrome;HP:0001511|Intrauterine growth retardation;HP:0001252|Muscular hypotonia;HP:0040019|Finger clinodactyly;HP:0000478|Abnormality of the eye
radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillarydiastema	HP:0000047|Hypospadias;HP:0005725|Nonopposable triphalangeal thumb;HP:0000699|Diastasis of the teeth;HP:0002984|Hypoplastic radius
split-hand with obstructive uropathy, spina bifida, and diaphragmaticdefects	HP:0010554|Cutaneous syndactyly of hands;HP:0001171|Hand ectrodactyly;HP:0000126|Hydronephrosis;HP:0003298|Spina bifida occulta;HP:0002475|Myelomeningocele;HP:0000238|Nonsyndromal hydrocephalus;HP:0001839|Foot ectrodactyly;HP:0002944|Thoracolumbar scoliosis;HP:0000775|Diaphragmatic defect;HP:0005999|Ureteral atresia
aphalangia, partial, with syndactyly and duplication of metatarsaliv	HP:0010554|Cutaneous syndactyly of hands;HP:0001991|Absent/small toe;HP:0000252|Small head circumference;HP:0002751|Kyphoscoliosis;HP:0004322|Stature below 3rd percentile;HP:0100543|Cognitive deficits;HP:0001249|Mental retardation;HP:0001449|Duplication of long bones of foot
stt3b-cdg	HP:0001263|Global developmental delay;HP:0001250|Seizures;HP:0000028|Cryptorchidism;HP:0000078|Abnormality of the genital system;HP:0001873|Thrombocytopenia;HP:0012345|Abnormal glycosylation;HP:0000252|Microcephaly;HP:0001272|Cerebellar atrophy;HP:0000046|Scrotal hypoplasia;HP:0001508|Failure to thrive;HP:0001290|Generalized hypotonia;HP:0000054|Micropenis;HP:0000648|Optic atrophy;HP:0001511|Intrauterine growth retardation;HP:0002098|Respiratory distress;HP:0011968|Feeding difficulties;HP:0001249|Intellectual disability
postorgasmic illness syndrome	HP:0001962|Palpitations;HP:0000975|Hyperhidrosis;HP:0012378|Fatigue;HP:0001324|Muscle weakness;HP:0011446|Abnormality of higher mental function;HP:0003552|Muscle stiffness;HP:0000613|Photophobia;HP:0001609|Hoarse voice;HP:0000822|Hypertension;HP:0000737|Irritability;HP:0000716|Depression;HP:0001945|Fever;HP:0000366|Abnormality of the nose;HP:0000622|Blurred vision;HP:0002315|Headache;HP:0001260|Dysarthria;HP:0000217|Xerostomia;HP:0000750|Delayed speech and language development
microcephaly, congenital heart disease, unilateral renal agenesis,and hyposegmented lungs	HP:0000252|Small head circumference;HP:0000122|Unilateral kidney agenesis;HP:0004467|Pit in front of the ear;HP:0000465|Pterygium colli;HP:0002324|Hydrancephaly;HP:0001660|Common arterial trunk;HP:0002086|Respiratory abnormality;HP:0009882|Hypoplastic terminal phalanges;HP:0000175|Palatoschisis;HP:0001629|Ventricular septal defects;HP:0000430|Nasal cartilage hypoplasia
corpus callosum, agenesis of, with mental retardation, ocular coloboma,and micrognathia	HP:0000475|Broad neck;HP:0000767|Funnel chest;HP:0004322|Stature below 3rd percentile;HP:0000505|Poor vision;HP:0000588|Optic disk coloboma;HP:0000348|High forehead;HP:0000369|Low-set ears;HP:0002650|Scoliosis;HP:0000218|Increased palatal height;HP:0000256|Macrocrania;HP:0000407|sensorineural hearing loss;HP:0000278|Receding lower jaw;HP:0000494|Downward slanting palpebral fissures;HP:0000378|Cupped ear;HP:0001274|Absent corpus callosum;HP:0000470|Decreased cervical height;HP:0001249|Mental retardation;HP:0000612|Iris coloboma
lipodystrophy, generalized, with mental retardation, deafness, shortstature, and slender bones	HP:0000938|Decreased bone mineral density;HP:0007464|Sparse facial hair;HP:0000490|Sunken eyes;HP:0100818|Long thorax;HP:0004322|Stature below 3rd percentile;HP:0009064|Generalized lipodystrophy;HP:0009059|Congenital generalized lipodystrophy;HP:0006153|Disharmonious carpal bone;HP:0001249|Mental retardation;HP:0001250|Seizures;HP:0004993|Slender long bones with narrow diaphyses;HP:0001547|Abnormality of the rib cage;HP:0000327|Maxillary micrognathia;HP:0001518|Small for gestational age;HP:0002750|Delayed bone maturation;HP:0001508|Weight faltering;HP:0002857|Genu valgum;HP:0001511|Prenatal onset growth retardation;HP:0005328|Aged facial appearance;HP:0100864|Short femoral necks;HP:0002967|Cubitus valgus;HP:0000407|sensorineural hearing loss;HP:0002215|Sparse axillary and pubic hair
trichomegaly with mental retardation, dwarfism, and pigmentary degeneration	HP:0000044|Hypogonadotrophic hypogonadism;HP:0000028|Cryptorchidism;HP:0000639|Nystagmus;HP:0003693|Muscle atrophy, distal;HP:0001518|Small for gestational age;HP:0003477|Peripheral axonal neuropathy;HP:0001146|Retinal pigmentary degeneration;HP:0000823|Pubertal delay;HP:0002460|Weakness of distal muscles;HP:0000824|Growth hormone deficiency;HP:0003510|Proportionate dwarfism;HP:0007818|Central heterochromia;HP:0000527|Long eyelashes;HP:0004523|Elongated eyebrow;HP:0001249|Mental retardation;HP:0008736|Hypoplasia of penis
severe congenital hypochromic anemia with ringed sideroblasts	HP:0003281|Increased serum ferritin;HP:0002910|Elevated hepatic transaminases;HP:0012465|Elevated hepatic iron concentration;HP:0000957|Cafe-au-lait spot;HP:0000864|Abnormality of the hypothalamus-pituitary axis;HP:0001433|Hepatosplenomegaly;HP:0012134|Dysplastic erythropoesis;HP:0012378|Fatigue;HP:0004823|Anisopoikilocytosis;HP:0000027|Azoospermia;HP:0001903|Anemia;HP:0003452|Increased serum iron;HP:0000846|Adrenal insufficiency;HP:0001510|Growth delay;HP:0000980|Pallor;HP:0000821|Hypothyroidism;HP:0012464|Decreased transferrin saturation;HP:0001896|Reticulocytopenia;HP:0025066|Decreased mean corpuscular volume;HP:0000135|Hypogonadism
junctional epidermolysis bullosa, herlitz type	HP:0000160|Narrow mouth;HP:0002094|Dyspnea;HP:0008404|Nail dystrophy;HP:0004057|Mitten deformity;HP:0001644|Dilated cardiomyopathy;HP:0001057|Aplasia cutis congenita;HP:0010296|Ankyloglossia;HP:0001075|Atrophic scars;HP:0006739|Squamous cell carcinoma of the skin;HP:0001056|Milia;HP:0006511|Laryngeal stridor;HP:0001944|Dehydration;HP:0008066|Abnormal blistering of the skin;HP:0001903|Anemia;HP:0001609|Hoarse voice;HP:0011968|Feeding difficulties;HP:0001602|Laryngeal stenosis;HP:0006297|Hypoplasia of dental enamel;HP:0000939|Osteoporosis;HP:0001508|Failure to thrive;HP:0002043|Esophageal stricture;HP:0200041|Skin erosion;HP:0001596|Alopecia;HP:0002878|Respiratory failure;HP:0001818|Paronychia;HP:0001581|Recurrent skin infections;HP:0001806|Onycholysis
congenital muscular dystrophy, fukuyama type	HP:0001263|Global developmental delay;HP:0001357|Plagiocephaly;HP:0010864|Intellectual disability, severe;HP:0000518|Cataract;HP:0000545|Myopia;HP:0002119|Ventriculomegaly;HP:0001612|Weak cry;HP:0000248|Brachycephaly;HP:0001644|Dilated cardiomyopathy;HP:0003198|Myopathy;HP:0007973|Retinal dysplasia;HP:0000767|Pectus excavatum;HP:0000750|Delayed speech and language development;HP:0001371|Flexion contracture;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0001511|Intrauterine growth retardation;HP:0030046|Hypoglycosylation of alpha-dystroglycan;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0000298|Mask-like facies;HP:0001288|Gait disturbance;HP:0003457|EMG abnormality;HP:0000648|Optic atrophy;HP:0000268|Dolichocephaly;HP:0003560|Muscular dystrophy;HP:0000505|Visual impairment;HP:0100490|Camptodactyly of finger;HP:0007260|Type II lissencephaly;HP:0001252|Muscular hypotonia;HP:0000501|Glaucoma;HP:0000238|Hydrocephalus
acropectorovertebral dysplasia, f-form of	HP:0009467|Second finger clinodactyly;HP:0006101|Finger syndactyly;HP:0002652|Skeletal dysplasia;HP:0005048|Synostosis of carpal bones;HP:0003468|Vertebral anomalies;HP:0000765|Abnormality of the thorax;HP:0001241|Capitate-hamate fusions;HP:0009611|Bifid distal phalanx of thumb;HP:0001770|Toe syndactyly;HP:0009778|Small thumbs;HP:0004601|Spina bifida occulta at L5;HP:0004614|Spina bifida occulta at S1;HP:0011304|Wide/broad thumb
ichthyosis associated with a nucleotide excision repair anomaly	HP:0008064|Ichthyosis
ssr4-cdg	HP:0001263|Global developmental delay;HP:0011339|Abnormality of upper lip vermillion;HP:0002013|Vomiting;HP:0003256|Abnormality of the coagulation cascade;HP:0002079|Hypoplasia of the corpus callosum;HP:0001331|Absent septum pellucidum;HP:0001290|Generalized hypotonia;HP:0001373|Joint dislocation;HP:0000490|Deeply set eye;HP:0000154|Wide mouth;HP:0000486|Strabismus;HP:0001643|Patent ductus arteriosus;HP:0002518|Abnormality of the periventricular white matter;HP:0011968|Feeding difficulties;HP:0002020|Gastroesophageal reflux;HP:0000924|Abnormality of the skeletal system;HP:0001250|Seizures;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0001999|Abnormal facial shape;HP:0001508|Failure to thrive;HP:0000085|Horseshoe kidney;HP:0001249|Intellectual disability;HP:0001626|Abnormality of the cardiovascular system;HP:0001928|Abnormality of coagulation;HP:0000400|Macrotia;HP:0000687|Widely spaced teeth;HP:0011024|Abnormality of the gastrointestinal tract
alg13-cdg	HP:0000639|Nystagmus;HP:0012469|Infantile spasms;HP:0000717|Autism;HP:0004325|Decreased body weight;HP:0002421|Poor head control;HP:0000331|Short chin;HP:0100543|Cognitive impairment;HP:0000463|Anteverted nares;HP:0002312|Clumsiness;HP:0000343|Long philtrum;HP:0000316|Hypertelorism;HP:0001181|Adducted thumb;HP:0002283|Global brain atrophy;HP:0000817|Poor eye contact;HP:0030047|Abnormality of lateral ventricle;HP:0001290|Generalized hypotonia;HP:0002521|Hypsarrhythmia;HP:0012443|Abnormality of brain morphology;HP:0000750|Delayed speech and language development
dandy-walker malformation with mental retardation, macrocephaly, myopia,and brachytelephalangy	HP:0000639|Nystagmus;HP:0001305|Dandy-Walker cyst;HP:0000238|Nonsyndromal hydrocephalus;HP:0010864|Early and severe mental retardation;HP:0000256|Macrocrania;HP:0002198|Enlarged fourth ventricle;HP:0000930|Elevated imprint of the transverse sinuses;HP:0000933|Posterior fossa cyst at the fourth ventricle;HP:0000931|Thinning and bulging of posterior skull bones;HP:0006824|Cranial nerve palsy;HP:0002335|Agenesis of cerebellar vermis;HP:0001821|Broad nail;HP:0002951|Partial absence of cerebellar vermis;HP:0002078|Truncal ataxia;HP:0001799|Short nails;HP:0006887|Progressive mental retardation;HP:0006118|Shortening of all outermost bones of the fingers
esophageal canceresophageal squamous cell carcinoma, included	HP:0002860|Squamous cell carcinoma
microcephalic primordial dwarfism due to znf335 deficiency	HP:0001317|Abnormality of the cerebellum;HP:0012444|Brain atrophy;HP:0002472|Small cerebral cortex;HP:0000252|Microcephaly;HP:0002119|Ventriculomegaly;HP:0002060|Abnormality of the cerebrum;HP:0009879|Cortical gyral simplification;HP:0002538|Abnormality of the cerebral cortex;HP:0012757|Abnormal neuron morphology
quinquaud's folliculitis decalvans	HP:0004552|Scarring alopecia of scalp;HP:0010783|Erythema;HP:0002232|Patchy alopecia;HP:0001595|Abnormality of the hair;HP:0200039|Pustule;HP:0001581|Recurrent skin infections;HP:0100699|Scarring
retinal degeneration with nanophthalmos, cystic macular degeneration,and angle closure glaucoma	HP:0008028|Cystic macular degeneration;HP:0001939|Laboratory abnormality;HP:0001146|Retinal pigmentary degeneration;HP:0000662|Poor night vision;HP:0000568|Abnormally small globe of eye;HP:0007401|Macular atrophy;HP:0000546|Retinal degeneration;HP:0000501|Glaucoma;HP:0007756|Slitlike anterior chamber angles in children
plasminogen deficiency, type iligneous conjunctivitis, included	HP:0000787|Renal calculi;HP:0001305|Dandy-Walker cyst;HP:0000230|Inflamed gums;HP:0002588|Duodenal ulcer;HP:0000123|Nephritis;HP:0000618|Blindness;HP:0001939|Laboratory abnormality;HP:0000598|Ear anomaly;HP:0000951|dermatopathy;HP:0001600|Laryngeal anomalies;HP:0000256|Macrocrania;HP:0000509|Conjunctivitis;HP:0000238|Nonsyndromal hydrocephalus;HP:0000212|Gingival overgrowth;HP:0001321|Small cerebellum;HP:0002788|Recurrent upper respiratory infection;HP:0000704|Pyorrhea
hypertrichotic osteochondrodysplasia, cantu type	HP:0000470|Short neck;HP:0001654|Abnormality of the heart valves;HP:0000336|Prominent supraorbital ridges;HP:0000527|Long eyelashes;HP:0006101|Finger syndactyly;HP:0000154|Wide mouth;HP:0002652|Skeletal dysplasia;HP:0010109|Short hallux;HP:0001537|Umbilical hernia;HP:0009882|Short distal phalanx of finger;HP:0000343|Long philtrum;HP:0001643|Patent ductus arteriosus;HP:0001640|Cardiomegaly;HP:0000574|Thick eyebrow;HP:0000774|Narrow chest;HP:0001639|Hypertrophic cardiomyopathy;HP:0001869|Deep plantar creases;HP:0012471|Thick vermilion border;HP:0001256|Intellectual disability, mild;HP:0000286|Epicanthus;HP:0000256|Macrocephaly;HP:0000294|Low anterior hairline;HP:0000939|Osteoporosis;HP:0002230|Generalized hirsutism;HP:0000926|Platyspondyly;HP:0000431|Wide nasal bridge;HP:0010059|Broad hallux phalanx;HP:0007665|Curly eyelashes;HP:0005616|Accelerated skeletal maturation;HP:0002162|Low posterior hairline;HP:0003300|Ovoid vertebral bodies;HP:0004634|Cuboid-shaped vertebral bodies;HP:0002750|Delayed skeletal maturation;HP:0000463|Anteverted nares;HP:0000885|Broad ribs;HP:0000280|Coarse facial features;HP:0000944|Abnormality of the metaphyses;HP:0002673|Coxa valga
growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimalduct obstruction	HP:0006499|Abnormality of femoral epiphysis;HP:0002342|Intellectual disability, moderate;HP:0002656|Epiphyseal dysplasia;HP:0001510|Growth deficiency;HP:0000407|sensorineural hearing loss;HP:0001537|Umbilical hernias;HP:0007678|Nasolacrimal duct stenosis;HP:0000023|Inguinal hernia
radioulnar synostosis, unilateral, with developmental retardationand hypotonia	HP:0000448|Big nose;HP:0001263|Developmental retardation;HP:0000276|Long face;HP:0002974|Fused forearm bones;HP:0000256|Macrocrania;HP:0003083|Dislocated radius;HP:0001290|Generalized hypotonia;HP:0000275|Decreased width of face;HP:0000268|Dolichocephaly
acromesomelic dysplasia, maroteaux type; amdmst. helena dysplasia, included	HP:0002986|Bowed radii;HP:0004633|Lower thoracic kyphosis;HP:0010049|Metacarpal hypoplasia;HP:0001500|Broad fingers;HP:0001847|Large halluces;HP:0003300|Oval vertebral bodies;HP:0004568|Wedged vertebrae;HP:0003196|Short nose;HP:0010230|Cone-shaped epiphyses of the phalanges of the hand;HP:0003498|Disproportionate short stature;HP:0008484|Thoracolumbar interpediculate narrowness;HP:0007516|Redundant skin on fingers;HP:0002938|Exaggerated lumbar lordosis;HP:0001831|Short toes;HP:0003086|Acromesomelia;HP:0002007|Frontal protruberance;HP:0005619|Thoracolumbar kyphosis;HP:0003015|Metaphyseal splaying;HP:0001377|Restricted elbow extension;HP:0001388|Joint laxity;HP:0001799|Short nails;HP:0001783|Broad metatarsal;HP:0009803|Hypoplastic/small phalanges of the hand;HP:0006009|Wide phalanges;HP:0010743|Shortened metatarsals;HP:0001230|Broad metacarpals;HP:0011220|Prominent forehead;HP:0002984|Hypoplastic radius
akt2-related familial partial lipodystrophy	HP:0000831|Insulin-resistant diabetes mellitus;HP:0000876|Oligomenorrhea;HP:0000855|Insulin resistance;HP:0008356|Combined hyperlipidemia;HP:0000147|Polycystic ovaries;HP:0030685|Decreased adiponectin level;HP:0002155|Hypertriglyceridemia;HP:0002240|Hepatomegaly;HP:0001397|Hepatic steatosis;HP:0000956|Acanthosis nigricans;HP:0008993|Increased intraabdominal fat;HP:0009125|Lipodystrophy;HP:0003292|Decreased serum leptin
pparg-related familial partial lipodystrophy	HP:0000831|Insulin-resistant diabetes mellitus;HP:0003707|Calf muscle pseudohypertrophy;HP:0000786|Primary amenorrhea;HP:0001733|Pancreatitis;HP:0003198|Myopathy;HP:0001677|Coronary artery disease;HP:0000869|Secondary amenorrhea;HP:0000876|Oligomenorrhea;HP:0001635|Congestive heart failure;HP:0000963|Thin skin;HP:0003326|Myalgia;HP:0009042|Marked muscular hypertrophy;HP:0003635|Loss of subcutaneous adipose tissue in limbs;HP:0000855|Insulin resistance;HP:0003712|Skeletal muscle hypertrophy;HP:0000822|Hypertension;HP:0000292|Loss of facial adipose tissue;HP:0001639|Hypertrophic cardiomyopathy;HP:0100578|Lipoatrophy;HP:0002155|Hypertriglyceridemia;HP:0000147|Polycystic ovaries;HP:0100607|Dysmenorrhea;HP:0100601|Eclampsia;HP:0000991|Xanthomatosis;HP:0001397|Hepatic steatosis;HP:0002240|Hepatomegaly;HP:0002230|Generalized hirsutism;HP:0002149|Hyperuricemia;HP:0007457|Prominent veins on trunk;HP:0012084|Abnormality of skeletal muscle fiber size;HP:0001744|Splenomegaly;HP:0001394|Cirrhosis;HP:0000819|Diabetes mellitus;HP:0009800|Maternal diabetes;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0000956|Acanthosis nigricans;HP:0002621|Atherosclerosis
generalized epidermolysis bullosa simplex, non-dowling-meara type	HP:0000508|Ptosis;HP:0001597|Abnormality of the nail;HP:0000975|Hyperhidrosis;HP:0003473|Fatigable weakness;HP:0005595|Generalized hyperkeratosis;HP:0000597|Ophthalmoparesis;HP:0002093|Respiratory insufficiency;HP:0000682|Abnormality of dental enamel;HP:0001324|Muscle weakness;HP:0002745|Oral leukoplakia;HP:0001056|Milia;HP:0001508|Failure to thrive;HP:0002793|Abnormal pattern of respiration;HP:0008066|Abnormal blistering of the skin;HP:0000982|Palmoplantar keratoderma;HP:0001933|Subcutaneous hemorrhage
cleft lip/palate with characteristic facies, intestinal malrotation,and lethal congenital heart disease	HP:0001169|Wide palm;HP:0009944|Notching of thumb phalanges;HP:0000157|Abnormality of the tongue;HP:0001520|Birthweight > 90th percentile;HP:0000272|Depressed malar region;HP:0003271|Visceromegaly;HP:0005469|Flat occiput;HP:0012368|Flat face;HP:0004279|Hypoplastic hands;HP:0030680|Abnormality of cardiovascular system morphology;HP:0002566|Intestinal malrotation;HP:0000204|Cleft upper lip;HP:0000316|Increased distance between eye sockets;HP:0005922|Abnormal hand morphology;HP:0002744|Bilateral cleft lip and cleft palate;HP:0004510|Hyperplastic islets of langerhans
ehlers-danlos syndrome, spondylocheirodysplastic type	HP:0003071|Flattened epiphysis;HP:0000963|Thin skin;HP:0003393|Thenar muscle atrophy;HP:0000520|Proptosis;HP:0001371|Flexion contracture;HP:0006429|Broad femoral neck;HP:0100864|Short femoral neck;HP:0002652|Skeletal dysplasia;HP:0010489|Absent palmar crease;HP:0000938|Osteopenia;HP:0000978|Bruising susceptibility;HP:0001182|Tapered finger;HP:0000592|Blue sclerae;HP:0001508|Failure to thrive;HP:0000926|Platyspondyly;HP:0000974|Hyperextensible skin;HP:0003370|Flat capital femoral epiphysis;HP:0000944|Abnormality of the metaphyses;HP:0008848|Moderately short stature;HP:0000494|Downslanted palpebral fissures
carcinoma of gallbladder and extrahepatic biliary tract	HP:0002716|Lymphadenopathy;HP:0100574|Biliary tract neoplasm;HP:0001081|Cholelithiasis;HP:0002027|Abdominal pain;HP:0002017|Nausea and vomiting;HP:0000952|Jaundice;HP:0002039|Anorexia
thyroid dyshormonogenesis 6; tdh6	HP:0000851|Congenital hypothyroidism
speech development, delayed, with facial asymmetry, strabismus, andtransverse earlobe crease	HP:0000750|Late-onset speech development;HP:0000324|Asymmetry of face;HP:0000486|Squint eyes;HP:0007946|Unilateral narrow palpebral fissure;HP:0000369|Low-set ears;HP:0001328|Specific learning disability;HP:0000343|Vertical hyperplasia of philtrum;HP:0007687|Unilateral ptosis;HP:0009908|Earlobe crease
x-linked dominant chondrodysplasia, chassaing-lacombe type	HP:0000568|Microphthalmia;HP:0003196|Short nose;HP:0004322|Short stature;HP:0001321|Cerebellar hypoplasia;HP:0008364|Abnormality of the calcaneus;HP:0002866|Hypoplastic iliac wing;HP:0000347|Micrognathia;HP:0000154|Wide mouth;HP:0002007|Frontal bossing;HP:0000369|Low-set ears;HP:0006028|Metaphyseal cupping of metacarpals;HP:0000883|Thin ribs;HP:0001522|Death in infancy;HP:0005871|Metaphyseal chondrodysplasia;HP:0001511|Intrauterine growth retardation;HP:0004279|Short palm;HP:0001773|Short foot;HP:0001256|Intellectual disability, mild;HP:0000962|Hyperkeratosis;HP:0000457|Depressed nasal ridge;HP:0000926|Platyspondyly;HP:0000322|Short philtrum;HP:0000238|Hydrocephalus;HP:0008905|Rhizomelia
thumb, hypoplastic, with choroid coloboma, poorly developed antihelix,and deafness	HP:0000028|Cryptorchidism;HP:0000567|Chorioretinal coloboma;HP:0001263|Developmental retardation;HP:0009738|Abnormality of the antihelix;HP:0000518|Cataract;HP:0000365|Hearing impairment;HP:0009778|Small thumbs
acheiropody acheiropodia acheiropody, brazilian type	HP:0004231|Aplastic carpal bone;HP:0005736|Short tibia;HP:0009820|Lower limb peromelia;HP:0004050|Acheiria;HP:0003974|Absent ossification/absence of radius;HP:0003982|Absent ulna;HP:0009802|Aplasia of the phalanges of the hand;HP:0005792|Short upper arms;HP:0010048|Absent long bone of hand;HP:0002990|Absent calf bone;HP:0010509|Aplasia of the tarsal bones;HP:0010744|Aplasia of the metatarsal bones;HP:0010760|Aplasia of toe;HP:0005632|Absent forearm
46,xy disorder of sex development due to isolated 17,20-lyase deficiency	HP:0000028|Cryptorchidism;HP:0000786|Primary amenorrhea;HP:0000037|Male pseudohermaphroditism;HP:0000033|Ambiguous genitalia, male;HP:0000815|Hypergonadotropic hypogonadism;HP:0004322|Short stature;HP:0008734|Decreased testicular size;HP:0040171|Decreased serum testosterone level;HP:0008730|Female external genitalia in individual with 46,XY karyotype;HP:0012244|Abnormal sex determination;HP:0002225|Sparse pubic hair;HP:0000047|Hypospadias;HP:0002215|Sparse axillary hair;HP:0011969|Elevated luteinizing hormone;HP:0002231|Sparse body hair;HP:0030349|Decreased circulating androgen level;HP:0000147|Polycystic ovaries;HP:0100607|Dysmenorrhea;HP:0000013|Hypoplasia of the uterus;HP:0000771|Gynecomastia;HP:0012113|Abnormality of creatine metabolism;HP:0000868|Decreased fertility in females;HP:0008187|Absence of secondary sex characteristics;HP:0000939|Osteoporosis;HP:0001508|Failure to thrive;HP:0000823|Delayed puberty;HP:0008675|Enlarged polycystic ovaries;HP:0008726|Hypoplasia of the vagina;HP:0002750|Delayed skeletal maturation;HP:0008193|Primary gonadal insufficiency;HP:0008214|Decreased serum estradiol;HP:0012041|Decreased fertility in males;HP:0004349|Reduced bone mineral density;HP:0000054|Micropenis;HP:0000144|Decreased fertility;HP:0008232|Elevated follicle stimulating hormone
3-@hydroxyisobutyric aciduria	HP:0001999|Facial dysmorphism;HP:0000252|Small head circumference;HP:0002269|Neuronal migration disorder;HP:0006906|Congenital intracerebral calcification;HP:0003128|Lactic acidosis;HP:0005974|Episodic ketoacidosis;HP:0003355|Aminoaciduria;HP:0001508|Weight faltering
dupuytren contracturedupuytren contracture 1, included	HP:0005679|Dupuytren contracture;HP:0009473|Joint contracture of the hand
mitral regurgitation, conductive deafness, and fusion of cervicalvertebrae and of carpal and tarsal bones	HP:0004322|Stature below 3rd percentile;HP:0000405|Conductive hearing loss;HP:0001480|Freckling;HP:0001653|Mitral valve insufficiency;HP:0008527|Hearing loss, congenital sensorineural;HP:0000478|Abnormal eye;HP:0002949|Fused cervical vertebrae;HP:0100266|Carpal and tarsal fusions
budd-chiari syndromemembranous obstruction of inferior vena cava, included	HP:0001394|Hepatic cirrhosis;HP:0002639|Budd-Chiari syndrome;HP:0001402|Hepatocellular carcinoma
spastic paraplegia, sensorineural deafness, mental retardation, and	HP:0000794|IgA deposition in the glomerulus;HP:0008619|Bilateral sensorineural hearing impairment;HP:0001258|Spastic paraplegia, lower limb;HP:0000112|Nephropathy;HP:0000097|focal glomerulosclerosis;HP:0001249|Mental retardation
severe neurodegenerative syndrome with lipodystrophy	HP:0001348|Brisk reflexes;HP:0001336|Myoclonus;HP:0002133|Status epilepticus;HP:0003758|Reduced subcutaneous adipose tissue;HP:0100543|Cognitive impairment;HP:0007256|Abnormal pyramidal signs;HP:0002340|Caudate atrophy;HP:0003198|Myopathy;HP:0002529|Neuronal loss in central nervous system;HP:0000750|Delayed speech and language development;HP:0000752|Hyperactivity;HP:0001257|Spasticity;HP:0001251|Ataxia;HP:0009064|Generalized lipodystrophy;HP:0000855|Insulin resistance;HP:0000822|Hypertension;HP:0002066|Gait ataxia;HP:0002155|Hypertriglyceridemia;HP:0002448|Progressive encephalopathy;HP:0002451|Limb dystonia;HP:0001250|Seizures;HP:0002059|Cerebral atrophy;HP:0000842|Hyperinsulinemia;HP:0002230|Generalized hirsutism;HP:0001397|Hepatic steatosis;HP:0002240|Hepatomegaly;HP:0007272|Progressive psychomotor deterioration;HP:0002360|Sleep disturbance;HP:0025128|Reduced intraabdominal adipose tissue;HP:0001394|Cirrhosis;HP:0001347|Hyperreflexia;HP:0001337|Tremor;HP:0002878|Respiratory failure;HP:0002275|Poor motor coordination;HP:0000280|Coarse facial features;HP:0000956|Acanthosis nigricans;HP:0002273|Tetraparesis
finger locking, recurrent, with intrauterine growth retardation andproportionate short stature	HP:0001511|Prenatal onset growth retardation;HP:0004322|Stature below 3rd percentile
atrioventricular septal defect with blepharophimosis and anal andradial defects	HP:0000486|Squint eyes;HP:0002023|Anal atresia;HP:0010035|Absent 1st long bone of hand;HP:0000581|Blepharophimosis;HP:0000347|Hypoplasia of mandible;HP:0002020|Heartburn;HP:0001629|Ventricular septal defects;HP:0001545|Anteriorly placed anus;HP:0004209|Clinodactyly of fifth digit;HP:0011266|Microtia, first degree;HP:0001636|Tetrology of fallot;HP:0003022|Short ulna;HP:0001263|Developmental retardation;HP:0000582|Upward slanting of palpebral fissures;HP:0000431|Broad nasal root;HP:0001511|Prenatal onset growth retardation;HP:0006695|Atrioventricular septal defect, partial;HP:0003974|Absent ossification/absence of radius;HP:0000568|Abnormally small globe of eye;HP:0000378|Cupped ear;HP:0000076|Vesicoureteric reflux;HP:0001631|Atria septal defect
microtia - eye coloboma - imperforation of the nasolacrimal duct	HP:0008551|Hypoplasia of the external ear
celiac disease, epilepsy and cerebral calcification syndrome	HP:0002608|Celiac disease
x-linked intellectual disability, najm type	HP:0000639|Nystagmus;HP:0000518|Cataract;HP:0000545|Myopia;HP:0001344|Absent speech;HP:0001321|Cerebellar hypoplasia;HP:0000337|Broad forehead;HP:0001257|Spasticity;HP:0000347|Micrognathia;HP:0002342|Intellectual disability, moderate;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0002120|Cerebral cortical atrophy;HP:0011344|Severe global developmental delay;HP:0000407|Sensorineural hearing impairment;HP:0001250|Seizures;HP:0001288|Gait disturbance;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0002063|Rigidity;HP:0001508|Failure to thrive;HP:0000648|Optic atrophy;HP:0000431|Wide nasal bridge;HP:0000609|Optic nerve hypoplasia;HP:0000567|Chorioretinal coloboma;HP:0000505|Visual impairment;HP:0000400|Macrotia
1q21.1 microdeletion syndrome	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0001274|Agenesis of corpus callosum;HP:0000568|Microphthalmia;HP:0000518|Cataract;HP:0004322|Short stature;HP:0001770|Toe syndactyly;HP:0000218|High palate;HP:0010296|Ankyloglossia;HP:0000490|Deeply set eye;HP:0002007|Frontal bossing;HP:0000126|Hydronephrosis;HP:0000486|Strabismus;HP:0001762|Talipes equinovarus;HP:0005692|Joint hyperflexibility;HP:0000343|Long philtrum;HP:0008499|High-grade hypermetropia;HP:0001643|Patent ductus arteriosus;HP:0001511|Intrauterine growth retardation;HP:0001829|Foot polydactyly;HP:0000407|Sensorineural hearing impairment;HP:0011611|Interrupted aortic arch;HP:0000739|Anxiety;HP:0000076|Vesicoureteral reflux;HP:0000612|Iris coloboma;HP:0001773|Short foot;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0001508|Failure to thrive;HP:0007018|Attention deficit hyperactivity disorder;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0000023|Inguinal hernia;HP:0002360|Sleep disturbance;HP:0010059|Broad hallux phalanx;HP:0001249|Intellectual disability;HP:0000717|Autism;HP:0100753|Schizophrenia;HP:0011304|Broad thumb;HP:0000716|Depression;HP:0001161|Hand polydactyly;HP:0001252|Muscular hypotonia;HP:0000414|Bulbous nose;HP:0000238|Hydrocephalus;HP:0001671|Abnormality of the cardiac septa
hereditary progressive mucinous histiocytosis	HP:0200034|Papule
x-linked intellectual disability, cabezas type	HP:0010864|Intellectual disability, severe;HP:0000470|Short neck;HP:0000363|Abnormality of earlobe;HP:0000581|Blepharophimosis;HP:0004322|Short stature;HP:0010720|Abnormal hair pattern;HP:0001344|Absent speech;HP:0001770|Toe syndactyly;HP:0008734|Decreased testicular size;HP:0000218|High palate;HP:0008736|Hypoplasia of penis;HP:0000135|Hypogonadism;HP:0000752|Hyperactivity;HP:0000154|Wide mouth;HP:0002342|Intellectual disability, moderate;HP:0002167|Neurological speech impairment;HP:0005692|Joint hyperflexibility;HP:0001852|Sandal gap;HP:0004279|Short palm;HP:0000718|Aggressive behavior;HP:0001773|Short foot;HP:0000494|Downslanted palpebral fissures;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000975|Hyperhidrosis;HP:0000256|Macrocephaly;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0000664|Synophrys;HP:0002808|Kyphosis;HP:0004209|Clinodactyly of the 5th finger;HP:0000448|Prominent nose;HP:0200021|Down-sloping shoulders;HP:0200055|Small hand;HP:0000023|Inguinal hernia;HP:0001761|Pes cavus;HP:0000322|Short philtrum;HP:0004326|Cachexia;HP:0000179|Thick lower lip vermilion;HP:0001513|Obesity;HP:0002721|Immunodeficiency;HP:0010807|Open bite;HP:0001337|Tremor;HP:0002967|Cubitus valgus;HP:0004422|Biparietal narrowing;HP:0100490|Camptodactyly of finger;HP:0000956|Acanthosis nigricans;HP:0002136|Broad-based gait
moyamoya disease with early-onset achalasia	HP:0011834|Moyamoya phenomenon;HP:0001297|Stroke;HP:0000965|Cutis marmorata;HP:0001873|Thrombocytopenia;HP:0000822|Hypertension;HP:0030402|Abnormal platelet aggregation;HP:0030880|Raynaud phenomenon;HP:0100659|Abnormality of the cerebral vasculature
tibia, absence or hypoplasia of, with polydactyly, retrocerebellararachnoid cyst, and other anomalies	HP:0002986|Bowed radii;HP:0002190|Choroid plexus cyst;HP:0001830|Posterior polydactyly of foot;HP:0100702|Arachnoid cyst;HP:0001762|Talipes equinovarus;HP:0000765|Abnormality of the thorax;HP:0000204|Cleft upper lip;HP:0005772|Absent/hypoplastic tibia;HP:0001841|Preaxial polydactyly of foot;HP:0007291|Posterior fossa cyst
46,xy disorder of sex development due to 5-alpha-reductase 2 deficiency	HP:0000028|Cryptorchidism;HP:0000051|Perineal hypospadias;HP:0000818|Abnormality of the endocrine system;HP:0000033|Ambiguous genitalia, male;HP:0100779|Urogenital sinus anomaly;HP:0000046|Scrotal hypoplasia;HP:0000062|Ambiguous genitalia;HP:0000144|Decreased fertility;HP:0000048|Bifid scrotum;HP:0008736|Hypoplasia of penis
aniridia, partial, with unilateral renal agenesis and psychomotorretardation	HP:0000122|Unilateral kidney agenesis;HP:0001087|Childhood glaucoma;HP:0000506|Telecanthus;HP:0002007|Frontal protruberance;HP:0011498|Partial aniridia;HP:0001249|Mental retardation
hemolytic anemia, lethal congenital nonspherocytic, with genital andother abnormalities	HP:0000811|Abnormal external genitalia;HP:0005469|Flat occiput;HP:0001878|Haemolytic anaemia;HP:0000363|Abnormality of ear lobe;HP:0001852|Wide space between first and second toes;HP:0001541|Ascites;HP:0001869|Deep plantar creases;HP:0001433|Enlarged liver and spleen
bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes,goiter, and primary gonadal insufficiency	HP:0001322|Brain very small;HP:0006872|Small cerebrum;HP:0000853|Goitre;HP:0001876|Low blood cell count;HP:0001090|Large eyes;HP:0002073|Cerebellar ataxia, progressive;HP:0001518|Small for gestational age;HP:0008193|Primary gonadal insufficiency;HP:0000444|Polly beak nasal deformity;HP:0000278|Receding lower jaw;HP:0003510|Proportionate dwarfism;HP:0000275|Decreased width of face;HP:0000831|Insulin-resistant diabetes mellitus;HP:0001249|Mental retardation
craniofacial malformations, asymmetric, with polysyndactyly and abnormalskin and gut development	HP:0000324|Asymmetry of face;HP:0001159|Webbed fingers or toes;HP:0001177|Preaxial hand polydactyly;HP:0000581|Blepharophimosis;HP:0000951|dermatopathy;HP:0000568|Abnormally small globe of eye;HP:0000589|Ocular coloboma;HP:0001363|Early fusion of cranial sutures;HP:0002025|Narrowing of anal opening;HP:0001274|Absent corpus callosum
exstrophy of bladderbladder exstrophy and epispadias complex, included	HP:0001545|Anteriorly placed anus;HP:0002644|Abnormal shape of pelvic girdle bone;HP:0000122|Unilateral kidney agenesis;HP:0000072|Megaureter;HP:0000039|Epispadias;HP:0002836|Bladder exstrophy;HP:0000023|Inguinal hernia;HP:0000085|Horseshoe kidney
mental retardation, congenital heart disease, blepharophimosis, blepharoptosis,and hypoplastic teeth	HP:0000028|Cryptorchidism;HP:0001760|Foot deformities;HP:0000581|Blepharophimosis;HP:0000402|Stenosis of the external auditory canal;HP:0003196|Short nose;HP:0000347|Hypoplasia of mandible;HP:0030680|Abnormality of cardiovascular system morphology;HP:0000365|Hearing impairment;HP:0000463|Nostrils anteverted;HP:0000233|Decreased volume of lip vermillion;HP:0000343|Vertical hyperplasia of philtrum;HP:0000093|Proteinuria;HP:0000286|Palpebronasal fold;HP:0004322|Stature below 3rd percentile;HP:0004209|Clinodactyly of fifth digit;HP:0000535|Thin, sparse eyebrows;HP:0000685|Hypoplastic teeth;HP:0001249|Mental retardation;HP:0008872|Feeding difficulties in infancy;HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0001388|Joint laxity;HP:0005280|Flat, nasal bridge;HP:0000319|Smooth philtrum;HP:0000046|Hypoplastic scrotum;HP:0000431|Broad nasal root;HP:0000160|Small mouth;HP:0000687|Widely spaced teeth;HP:0000508|Drooping upper eyelid;HP:0008551|Hypoplasia of the external ear
stt3a-cdg	HP:0001263|Global developmental delay;HP:0001250|Seizures;HP:0000028|Cryptorchidism;HP:0007772|Impaired smooth pursuit;HP:0012345|Abnormal glycosylation;HP:0000252|Microcephaly;HP:0001272|Cerebellar atrophy;HP:0000046|Scrotal hypoplasia;HP:0001508|Failure to thrive;HP:0001290|Generalized hypotonia;HP:0000054|Micropenis;HP:0011968|Feeding difficulties;HP:0001249|Intellectual disability
thrombocytopenia with congenital dyserythropoietic anemia	HP:0000028|Cryptorchidism;HP:0012145|Abnormality of multiple cell lineages in the bone marrow;HP:0004447|Poikilocytosis;HP:0040185|Macrothrombocytopenia;HP:0045040|Abnormal lactate dehydrogenase activity;HP:0011273|Anisocytosis;HP:0010972|Anemia of inadequate production;HP:0001931|Hypochromic anemia;HP:0012143|Abnormality of cells of the megakaryocyte lineage
familial anetoderma	HP:0002705|High, narrow palate;HP:0002761|Generalized joint laxity;HP:0002938|Lumbar hyperlordosis;HP:0040079|Irregular dentition;HP:0002992|Abnormality of the tibia;HP:0200034|Papule
duplication of the pituitary gland	HP:0000157|Abnormality of the tongue;HP:0001263|Global developmental delay;HP:0001274|Agenesis of corpus callosum;HP:0000470|Short neck;HP:0010864|Intellectual disability, severe;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0012286|Abnormal hypothalamus morphology;HP:0002679|Abnormality of the sella turcica;HP:0002418|Abnormality of midbrain morphology;HP:0000154|Wide mouth;HP:0007036|Hypoplasia of olfactory tract;HP:0000316|Hypertelorism;HP:0011729|Abnormality of joint mobility;HP:0009792|Teratoma;HP:0002580|Volvulus;HP:0003319|Abnormality of the cervical spine;HP:0003310|Abnormality of the odontoid process;HP:0000175|Cleft palate;HP:0004325|Decreased body weight;HP:0007642|Congenital stationary night blindness;HP:0000252|Microcephaly;HP:0002943|Thoracic scoliosis;HP:0000244|Brachyturricephaly;HP:0000278|Retrognathia;HP:0040199|Flat midface;HP:0000742|Self-mutilation;HP:0012503|Abnormality of the pituitary gland;HP:0100872|Abnormality of the plantar skin of foot;HP:3000005|Abnormality of masseter muscle;HP:0002084|Encephalocele;HP:0011069|Increased number of teeth;HP:0002061|Lower limb spasticity;HP:0001561|Polyhydramnios
x-linked neurodegenerative syndrome, hamel type	HP:0001263|Global developmental delay;HP:0001250|Seizures;HP:0001257|Spasticity;HP:0010864|Intellectual disability, severe;HP:0000618|Blindness;HP:0001522|Death in infancy
mental retardation, autosomal dominant 1; mrd1chromosome 2q23.1 deletion syndrome, included	HP:0002553|Highly arched eyebrow;HP:0003196|Short nose;HP:0000347|Hypoplasia of mandible;HP:0000194|Slack jawed appearance;HP:0000565|Inward turning of one or both eyes;HP:0000178|Abnormality of lower lip;HP:0002463|Language impairment;HP:0002373|Febrile convulsions;HP:0004322|Stature below 3rd percentile;HP:0001251|Ataxia;HP:0008897|Growth retardation as children;HP:0000369|Low-set ears;HP:0000574|Thick eyebrow;HP:0002007|Frontal protruberance;HP:0100716|Autoagression;HP:0002714|Downturned corners of mouth;HP:0000736|Short attention span;HP:0001249|Mental retardation;HP:0001270|Motor retardation;HP:0008872|Feeding difficulties in infancy;HP:0000540|Hypermetropia;HP:0000505|Poor vision;HP:0000252|Small head circumference;HP:0000545|Near sightedness;HP:0000411|Prominent ears;HP:0001852|Wide space between first and second toes;HP:0000154|Large mouth;HP:0000483|Astigmatism;HP:0000337|Increased bitemporal dimension;HP:0000331|Decreased height of chin;HP:0200055|Small hand;HP:0000448|Big nose;HP:0000219|Decreased height of upper lip vermilion;HP:0001773|Small feet;HP:0000687|Widely spaced teeth;HP:0002591|Voracious appetite;HP:0000278|Receding lower jaw;HP:0000378|Cupped ear;HP:0000414|Bulbous nose;HP:0008551|Hypoplasia of the external ear;HP:0000718|Aggressive behaviour
hypoinsulinemic hypoglycemia and body hemihypertrophy	HP:0000771|Gynecomastia;HP:0001325|Hypoglycemic coma;HP:0001958|Nonketotic hypoglycemia;HP:0001528|Hemihypertrophy;HP:0006568|Increased hepatic glycogen content;HP:0002173|Hypoglycemic seizures;HP:0001985|Hypoketotic hypoglycemia;HP:0001956|Truncal obesity;HP:0001998|Neonatal hypoglycemia;HP:0030812|Enlarged tonsils;HP:0002960|Autoimmunity;HP:0030781|Increased circulating free fatty acid level;HP:0040215|Abnormal circulating insulin level;HP:0001520|Large for gestational age
axial spondylometaphyseal dysplasia	HP:0000520|Proptosis;HP:0008905|Rhizomelia;HP:0003796|Irregular iliac crest;HP:0000506|Telecanthus;HP:0000505|Visual impairment;HP:0000926|Platyspondyly;HP:0002007|Frontal bossing;HP:0002750|Delayed skeletal maturation;HP:0000463|Anteverted nares;HP:0003196|Short nose;HP:0000510|Rod-cone dystrophy;HP:0000316|Hypertelorism;HP:0000613|Photophobia;HP:0000483|Astigmatism;HP:0004322|Short stature;HP:0005257|Thoracic hypoplasia;HP:0000648|Optic atrophy;HP:0000887|Cupped ribs;HP:0000944|Abnormality of the metaphyses;HP:0003411|Proximal femoral metaphyseal irregularity;HP:0000494|Downslanted palpebral fissures
methylmalonic acidemia with homocystinuria, type cbld	HP:0001263|Global developmental delay;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0001288|Gait disturbance;HP:0012378|Fatigue;HP:0001254|Lethargy;HP:0100022|Abnormality of movement;HP:0001508|Failure to thrive;HP:0002039|Anorexia;HP:0000980|Pallor;HP:0001980|Megaloblastic bone marrow;HP:0001249|Intellectual disability
uterus bicornis bicollis with partial vaginal septum and unilateralhematocolpos with ipsilateral renal agenesis	HP:0003762|Uterus didelphys;HP:0000104|Renal agenesis;HP:0008670|Partial vaginal septum
fadd-related immunodeficiency	HP:0004935|Pulmonary artery atresia;HP:0001250|Seizures;HP:0001298|Encephalopathy;HP:0002059|Cerebral atrophy;HP:0001629|Ventricular septal defect;HP:0001410|Decreased liver function;HP:0001395|Hepatic fibrosis;HP:0030057|Autoimmune antibody positivity
deafness, congenital, with keratopachydermia and constrictions offingers and toes	HP:0000365|Hearing impairment;HP:0007460|Autoamputation of digits;HP:0009775|Amniotic constriction ring;HP:0007465|Honeycomb palmoplantar keratoderma
15q overgrowth syndrome	HP:0001274|Agenesis of corpus callosum;HP:0000262|Turricephaly;HP:0005180|Tricuspid regurgitation;HP:0000356|Abnormality of the outer ear;HP:0030680|Abnormality of cardiovascular system morphology;HP:0001166|Arachnodactyly;HP:0001519|Disproportionate tall stature;HP:0001176|Large hands;HP:0000358|Posteriorly rotated ears;HP:0000218|High palate;HP:0000678|Dental crowding;HP:0008714|Ureterovesical stenosis;HP:0000766|Abnormality of the sternum;HP:0000676|Abnormality of the incisor;HP:0001653|Mitral regurgitation;HP:0000347|Micrognathia;HP:0000303|Mandibular prognathia;HP:0000506|Telecanthus;HP:0001270|Motor delay;HP:0000126|Hydronephrosis;HP:0000193|Bifid uvula;HP:0000369|Low-set ears;HP:0000486|Strabismus;HP:0001845|Overlapping toe;HP:0000316|Hypertelorism;HP:0002564|Malformation of the heart and great vessels;HP:0003396|Syringomyelia;HP:0009471|Contracture of the proximal interphalangeal joint of the 3rd finger;HP:0001511|Intrauterine growth retardation;HP:0006143|Abnormal finger flexion creases;HP:0001548|Overgrowth;HP:0000494|Downslanted palpebral fissures;HP:0000410|Mixed hearing impairment;HP:0001250|Seizures;HP:0007642|Congenital stationary night blindness;HP:0000256|Macrocephaly;HP:0002667|Nephroblastoma;HP:0002650|Scoliosis;HP:0000319|Smooth philtrum;HP:0008519|Abnormality of the coccyx;HP:0001999|Abnormal facial shape;HP:0000272|Malar flattening;HP:0004209|Clinodactyly of the 5th finger;HP:0000268|Dolichocephaly;HP:0000431|Wide nasal bridge;HP:0012210|Abnormal renal morphology;HP:0000085|Horseshoe kidney;HP:0006610|Wide intermamillary distance;HP:0000278|Retrognathia;HP:0001305|Dandy-Walker malformation;HP:0001319|Neonatal hypotonia;HP:0002705|High, narrow palate;HP:0001382|Joint hypermobility;HP:0001363|Craniosynostosis;HP:0001623|Breech presentation;HP:0012444|Brain atrophy;HP:0012758|Neurodevelopmental delay;HP:0001347|Hyperreflexia;HP:0000308|Microretrognathia;HP:0009540|Contracture of the proximal interphalangeal joint of the 2nd finger;HP:0000368|Low-set, posteriorly rotated ears;HP:0000280|Coarse facial features;HP:0002092|Pulmonary arterial hypertension;HP:0000238|Hydrocephalus;HP:0010653|Abnormality of the falx cerebri;HP:0002315|Headache
earlobes, thickened, with conductive deafness from incudostapedialabnormalities	HP:0200111|Absent stapes head;HP:0008591|Congenital conductive hearing loss
3-@methylglutaconic aciduria, type iv	HP:0002643|Respiratory distress, neonatal;HP:0000028|Cryptorchidism;HP:0000954|Simian creases;HP:0003344|3-methylglutaricaciduria;HP:0001263|Developmental retardation;HP:0001682|Subvalvular aortic stenosis;HP:0200128|Biventricular hypertrophy;HP:0001284|Areflexia;HP:0011344|Severe global developmental delay;HP:0007033|Cerebellar dysplasia;HP:0000023|Inguinal hernia;HP:0001319|Hypotonia, in neonatal onset
ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliarydyskinesia	HP:0001025|Hives;HP:0005938|Abnormal respiratory motile cilium morphology;HP:0012265|Ciliary dyskinesia;HP:0002209|Scalp hair, thinning;HP:0002719|infections, recurrent;HP:0000535|Thin, sparse eyebrows;HP:0002164|Nail dysplasia;HP:0001000|Pigmentary changes;HP:0007607|Hypohidrotic ectodermal dysplasia;HP:0000832|Primary hypothyroidism
neuropathy, hereditary sensory, with spastic paraplegia, autosomal	HP:0006827|Degeneration of the spinal cord;HP:0003146|Decreased circulating cholesterol level;HP:0003563|Hypobetalipoproteinemia;HP:0001760|Foot deformities;HP:0003431|Decreased motor nerve conduction velocities;HP:0003693|Muscle atrophy, distal;HP:0002936|Decreased distal sensation;HP:0003477|Peripheral axonal neuropathy;HP:0002064|Spastic gait;HP:0002169|Clonus;HP:0001258|Spastic paraplegia, lower limb;HP:0003487|Extensor plantar reflexes;HP:0001226|Acral ulceration and osteomyelitis leading to autoamputation of digits;HP:0006984|Distal sensory loss of all modalities
alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetesmellitus	HP:0000252|Small head circumference;HP:0003128|Lactic acidosis;HP:0006297|Hypoplasia of tooth enamel;HP:0003510|Proportionate dwarfism;HP:0000819|Diabetes mellitus
aplasia of extensor muscles of fingers, unilateral, with generalizedpolyneuropathy	HP:0001271|Polyneuropathy;HP:0003011|Abnormality of the musculature;HP:0000966|Decreased sweating
deafness, nerve type, with mesenteric diverticula of small bowel andprogressive sensory neuropathy	HP:0003075|Hypoproteinemia;HP:0000407|sensorineural hearing loss;HP:0002630|Fat malabsorption;HP:0009830|Peripheral neuritis;HP:0005229|Jejunoileal ulceration;HP:0001649|Tachycardia;HP:0002256|Small bowel diverticula
diffuse palmoplantar keratoderma-acrocyanosis syndrome	HP:0007435|Diffuse palmoplantar keratoderma;HP:0001063|Acrocyanosis
epiphyseal dysplasia, multiple, with myopia and conductive deafness;edmmd	HP:0009803|Hypoplastic/small phalanges of the hand;HP:0004322|Stature below 3rd percentile;HP:0000311|Round facial shape;HP:0012368|Flat face;HP:0000405|Conductive hearing loss;HP:0000518|Cataract;HP:0000545|Near sightedness;HP:0000160|Small mouth;HP:0030672|Asteroid hyalosis;HP:0002656|Epiphyseal dysplasia;HP:0002857|Genu valgum;HP:0030329|Retinal thinning;HP:0001156|Brachydactyly;HP:0002673|Coxa valga
dermato-cardio-skeletal syndrome, borrone type	HP:0001061|Acne;HP:0005280|Depressed nasal bridge;HP:0002797|Osteolysis;HP:0000337|Broad forehead;HP:0001156|Brachydactyly syndrome;HP:0000490|Deeply set eye;HP:0000154|Wide mouth;HP:0000303|Mandibular prognathia;HP:0001537|Umbilical hernia;HP:0006480|Premature loss of teeth;HP:0000316|Hypertelorism;HP:0000684|Delayed eruption of teeth;HP:0002816|Genu recurvatum;HP:0012471|Thick vermilion border;HP:0000494|Downslanted palpebral fissures;HP:0000771|Gynecomastia;HP:0001163|Abnormality of the metacarpal bones;HP:0002650|Scoliosis;HP:0002808|Kyphosis;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0000023|Inguinal hernia;HP:0000322|Short philtrum;HP:0000411|Protruding ear;HP:0001634|Mitral valve prolapse;HP:0000348|High forehead;HP:0001387|Joint stiffness;HP:0100490|Camptodactyly of finger;HP:0001072|Thickened skin;HP:0000280|Coarse facial features;HP:0004568|Beaking of vertebral bodies;HP:0000212|Gingival overgrowth;HP:0010885|Aseptic necrosis
autosomal semi-dominant severe lipodystrophic laminopathy	HP:0002216|Premature graying of hair;HP:0003233|Hypoalphalipoproteinemia;HP:0003758|Reduced subcutaneous adipose tissue;HP:0004416|Precocious atherosclerosis;HP:0001733|Pancreatitis;HP:0003198|Myopathy;HP:0006288|Advanced eruption of teeth;HP:0008993|Increased intraabdominal fat;HP:0001677|Coronary artery disease;HP:0000869|Secondary amenorrhea;HP:0003292|Decreased serum leptin;HP:0001635|Congestive heart failure;HP:0000963|Thin skin;HP:0005150|Abnormal atrioventricular conduction;HP:0003326|Myalgia;HP:0000347|Micrognathia;HP:0000287|Increased facial adipose tissue;HP:0003635|Loss of subcutaneous adipose tissue in limbs;HP:0000855|Insulin resistance;HP:0003712|Skeletal muscle hypertrophy;HP:0005115|Supraventricular arrhythmia;HP:0005328|Progeroid facial appearance;HP:0001639|Hypertrophic cardiomyopathy;HP:0002155|Hypertriglyceridemia;HP:0009125|Lipodystrophy;HP:0100578|Lipoatrophy;HP:0000147|Polycystic ovaries;HP:0009771|Osteolytic defects of the phalanges of the hand;HP:0100607|Dysmenorrhea;HP:0000468|Increased adipose tissue around the neck;HP:0003717|Minimal subcutaneous fat;HP:0000991|Xanthomatosis;HP:0001397|Hepatic steatosis;HP:0002240|Hepatomegaly;HP:0002230|Generalized hirsutism;HP:0000311|Round face;HP:0008968|Muscle hypertrophy of the lower extremities;HP:0004308|Ventricular arrhythmia;HP:0000418|Narrow nasal ridge;HP:0001597|Abnormality of the nail;HP:0001744|Splenomegaly;HP:0040266|Proximal upper limb muscle hypertrophy;HP:0000819|Diabetes mellitus;HP:0001870|Acroosteolysis of distal phalanges (feet);HP:0030685|Decreased adiponectin level;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0004943|Accelerated atherosclerosis;HP:0000956|Acanthosis nigricans;HP:0002621|Atherosclerosis
atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus,photomyoclonus, and degenerative neurologic disease	HP:0001317|Abnormality of the cerebellum;HP:0001327|Photomyoclonic seizures;HP:0000819|Diabetes mellitus;HP:0001920|Renal artery stenosis;HP:0000112|Nephropathy;HP:0000407|sensorineural hearing loss;HP:0004929|Coronary artherosclerosis;HP:0007201|Cerebral artery atherosclerosis;HP:0000093|Proteinuria
ichthyosis associated with a cornified cell envelope and epidermal lipid metabolism anomaly	HP:0008064|Ichthyosis
autism spectrum disorder-epilepsy-arthrogryposis syndrome	HP:0001256|Intellectual disability, mild;HP:0001765|Hammertoe;HP:0010864|Intellectual disability, severe;HP:0001385|Hip dysplasia;HP:0004976|Knee dislocation;HP:0000729|Autistic behavior;HP:0002342|Intellectual disability, moderate;HP:0002650|Scoliosis;HP:0002827|Hip dislocation;HP:0002121|Absence seizures
x-linked intellectual disability, turner type	HP:0001263|Global developmental delay;HP:0010864|Intellectual disability, severe;HP:0000307|Pointed chin;HP:0000601|Hypotelorism;HP:0001360|Holoprosencephaly;HP:0008222|Female infertility;HP:0000750|Delayed speech and language development;HP:0006466|Ankle contracture;HP:0002342|Intellectual disability, moderate;HP:0000276|Long face;HP:0100596|Absent nares;HP:0001377|Limited elbow extension;HP:0001276|Hypertonia;HP:0000494|Downslanted palpebral fissures;HP:0001256|Intellectual disability, mild;HP:0001250|Seizures;HP:0000256|Macrocephaly;HP:0001182|Tapered finger;HP:0002194|Delayed gross motor development;HP:0001249|Intellectual disability;HP:0000053|Macroorchidism;HP:0001513|Obesity;HP:0001347|Hyperreflexia;HP:0000280|Coarse facial features;HP:0100807|Long fingers;HP:0001231|Abnormality of the fingernails
hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearingloss	HP:0000047|Hypospadias;HP:0000303|Increased size of lower jaw;HP:0004322|Stature below 3rd percentile;HP:0000689|Misalignment of upper and lower dental arches;HP:0000272|Depressed malar region;HP:0000768|Pectus carinatum;HP:0004492|Widely patent fontanelles and sutures;HP:0000410|Hearing loss, mixed;HP:0000636|Upper eyelid colobomas;HP:0000316|Increased distance between eye sockets;HP:0002690|Hyperplasia of sella turcica;HP:0012471|Plump lips;HP:0011120|Saddle nose;HP:0011800|Midface, flat;HP:0000232|Everted prominent lower lip
neurofibromatosis type 6	HP:0001480|Freckling;HP:0007565|Multiple cafe-au-lait spots
congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization	HP:0000100|Nephrotic syndrome
ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesisof the corpus callosum	HP:0000924|Abnormality of the skeletal system;HP:0001939|Laboratory abnormality;HP:0010864|Early and severe mental retardation;HP:0007607|Hypohidrotic ectodermal dysplasia;HP:0001274|Absent corpus callosum;HP:0006887|Progressive mental retardation;HP:0000832|Primary hypothyroidism
46,xy disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	HP:0000044|Hypogonadotrophic hypogonadism;HP:0000028|Cryptorchidism;HP:0000037|Male pseudohermaphroditism;HP:0000771|Gynecomastia;HP:0000789|Infertility;HP:0000795|Abnormality of the urethra;HP:0000062|Ambiguous genitalia;HP:0000821|Hypothyroidism
familial hyperaldosteronism type ii	HP:0008221|Adrenal hyperplasia;HP:0000421|Epistaxis;HP:0011740|Glucocortocoid-insensitive primary hyperaldosteronism;HP:0002018|Nausea;HP:0011739|Dexamethasone-suppresible primary hyperaldosteronism;HP:0001324|Muscle weakness;HP:0002900|Hypokalemia;HP:0011746|Secretory adrenocortical adenoma;HP:0000822|Hypertension;HP:0200114|Metabolic alkalosis;HP:0002170|Intracranial hemorrhage;HP:0000360|Tinnitus;HP:0002315|Headache;HP:0040084|Abnormal circulating renin
hyperinsulinism due to insr deficiency	HP:0001250|Seizures;HP:0030794|Abnormal C-peptide level;HP:0001988|Recurrent hypoglycemia;HP:0012378|Fatigue;HP:0000855|Insulin resistance;HP:0001259|Coma;HP:0001943|Hypoglycemia;HP:0000825|Hyperinsulinemic hypoglycemia;HP:0008283|Fasting hyperinsulinemia
tetramelic deficiencies, ectodermal dysplasia, deformed ears, andother abnormalities	HP:0000968|Ectodermal dysplasia;HP:0000135|Hypogonadism;HP:0000579|Nasolacrimal duct obstruction;HP:0000377|Malformation of auricle;HP:0000464|Anomaly of the neck;HP:0003355|Aminoaciduria;HP:0002353|Abnormal EEG;HP:0001006|Marked hypotrichosis;HP:0000164|Abnormality of the teeth;HP:0000204|Cleft upper lip;HP:0001792|Hypoplastic nails;HP:0011675|Arrhythmias;HP:0100853|Hypoplastic areola;HP:0001249|Mental retardation;HP:0002557|Hypoplastic nipples;HP:0003057|Tetraamelia
mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria	HP:0001263|Global developmental delay;HP:0004322|Short stature;HP:0002119|Ventriculomegaly;HP:0000508|Ptosis;HP:0000512|Abnormal electroretinogram;HP:0012120|Methylmalonic aciduria;HP:0001251|Ataxia;HP:0003236|Elevated serum creatine phosphokinase;HP:0001265|Hyporeflexia;HP:0000407|Sensorineural hearing impairment;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0000252|Microcephaly;HP:0003355|Aminoaciduria;HP:0002514|Cerebral calcification;HP:0002230|Generalized hirsutism;HP:0000762|Decreased nerve conduction velocity;HP:0002194|Delayed gross motor development;HP:0004326|Cachexia;HP:0000505|Visual impairment;HP:0000649|Abnormality of visual evoked potentials;HP:0006887|Intellectual disability, progressive;HP:0003202|Skeletal muscle atrophy
prkar1b-related neurodegenerative dementia with intermediate filaments	HP:0002503|Spinocerebellar tract degeneration;HP:0003552|Muscle stiffness;HP:0002354|Memory impairment;HP:0002527|Falls;HP:0001300|Parkinsonism;HP:0000719|Inappropriate behavior;HP:0010794|Impaired visuospatial constructive cognition;HP:0002463|Language impairment;HP:0002506|Diffuse cerebral atrophy;HP:0000739|Anxiety;HP:0000736|Short attention span;HP:0002145|Frontotemporal dementia;HP:0002067|Bradykinesia;HP:0006892|Frontotemporal cerebral atrophy;HP:0002362|Shuffling gait;HP:0000741|Apathy;HP:0000726|Dementia;HP:0002333|Motor deterioration;HP:0007373|Motor neuron atrophy;HP:0002172|Postural instability;HP:0030216|Inertia;HP:0007311|Short stepped shuffling gait;HP:0012757|Abnormal neuron morphology
foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included	HP:0006934|Congenital nystagmus;HP:0007819|Presenile cataract;HP:0000505|Poor vision;HP:0007750|Hypoplasia of the fovea
autoimmune polyendocrinopathy type 2	HP:0001596|Alopecia;HP:0000829|Hypoparathyroidism;HP:0003011|Abnormality of the musculature;HP:0001053|Hypopigmented skin patches;HP:0002608|Celiac disease;HP:0000872|Hashimoto thyroiditis;HP:0008207|Primary adrenal insufficiency;HP:0100647|Graves disease;HP:0000820|Abnormality of the thyroid gland;HP:0000135|Hypogonadism;HP:0100651|Type I diabetes mellitus
cystic fibrosis with helicobacter pylori gastritis, megaloblasticanemia, and mental retardation	HP:0006532|Pneumonia, recurrent episodes;HP:0008327|Microscopic nephrocalcinosis;HP:0000347|Hypoplasia of mandible;HP:0009748|Fleshy earlobes;HP:0000506|Telecanthus;HP:0005263|Gastritis;HP:0001889|Megaloblastic anemia;HP:0002014|Diarrhea;HP:0000276|Long face;HP:0000049|Shawl scrotum;HP:0002150|Hypercalcinuria;HP:0002007|Frontal protruberance;HP:0001249|Mental retardation;HP:0100507|Folate deficiency;HP:0004401|Meconium ileus;HP:0006538|Recurrent bronchopulmonary infections;HP:0000431|Broad nasal root;HP:0001738|Exocrine pancreatic insufficiency;HP:0000789|Infertility;HP:0002613|Biliary cirrhosis;HP:0002097|Pulmonary emphysema;HP:0001648|Cor pulmonale;HP:0005230|Biliary tract obstruction
cerebellar vermis aplasia with associated features suggesting smith-lemli-opitzsyndrome and meckel syndrome	HP:0001405|Periportal fibrosis;HP:0000079|Urinary tract anomalies;HP:0100259|Postaxial hexadactyly;HP:0002335|Agenesis of cerebellar vermis;HP:0002085|Occipital encephalocele
trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalitiesof the hands and feet	HP:0001783|Broad metatarsal;HP:0005487|Ridging of metopic suture;HP:0006009|Wide phalanges;HP:0000341|Narrow bitemporal diameter;HP:0000347|Hypoplasia of mandible;HP:0000456|Bifid tip of nose;HP:0011803|Bifid nose;HP:0000248|Brachycephaly;HP:0000243|Triangular cranium shape;HP:0011344|Severe global developmental delay;HP:0000414|Bulbous nose
x-linked intellectual disability, shrimpton type	HP:0010864|Intellectual disability, severe;HP:0000348|High forehead;HP:0004322|Short stature;HP:0000486|Strabismus;HP:0000252|Microcephaly;HP:0001249|Mental retardation
3q13 microdeletion syndrome	HP:0000028|Cryptorchidism;HP:0001274|Agenesis of corpus callosum;HP:0000286|Epicanthus;HP:0000470|Short neck;HP:0000079|Abnormality of the urinary system;HP:0001155|Abnormality of the hand;HP:0000256|Macrocephaly;HP:0001387|Joint stiffness;HP:0000463|Anteverted nares;HP:0000316|Hypertelorism;HP:0000235|Abnormality of the fontanelles or cranial sutures;HP:0000343|Long philtrum;HP:0000774|Narrow chest;HP:0001252|Muscular hypotonia;HP:0000431|Wide nasal bridge;HP:0008736|Hypoplasia of penis;HP:0006610|Wide intermamillary distance
toriello-lacassie-droste syndrome	HP:0001274|Agenesis of corpus callosum;HP:0000520|Proptosis;HP:0000581|Blepharophimosis;HP:0003196|Short nose;HP:0001331|Absent septum pellucidum;HP:0000039|Epispadias;HP:0030680|Abnormality of cardiovascular system morphology;HP:0000365|Hearing impairment;HP:0012745|Short palpebral fissure;HP:0002251|Aganglionic megacolon;HP:0000625|Cleft eyelid;HP:0001156|Brachydactyly syndrome;HP:0000047|Hypospadias;HP:0000506|Telecanthus;HP:0000486|Strabismus;HP:0000069|Abnormality of the ureter;HP:0000598|Abnormality of the ear;HP:0004279|Short palm;HP:0011968|Feeding difficulties;HP:0001510|Growth delay;HP:0000286|Epicanthus;HP:0000256|Macrocephaly;HP:0001999|Abnormal facial shape;HP:0001508|Failure to thrive;HP:0001140|Epibulbar dermoid;HP:0001626|Abnormality of the cardiovascular system;HP:0008749|Laryngeal hypoplasia;HP:0000014|Abnormality of the bladder;HP:0000463|Anteverted nares;HP:0012639|Abnormality of nervous system morphology;HP:0000036|Abnormality of the penis;HP:0001252|Muscular hypotonia;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0000502|Abnormality of the conjunctiva;HP:0007440|Generalized hyperpigmentation;HP:0001561|Polyhydramnios
46,xx ovotesticular disorder of sex development	HP:0000047|Hypospadias;HP:0000028|Cryptorchidism;HP:0012856|Abnormal scrotal rugation;HP:0000130|Abnormality of the uterus;HP:0010459|True hermaphroditism;HP:0000022|Abnormality of male internal genitalia;HP:0100779|Urogenital sinus anomaly;HP:0000046|Scrotal hypoplasia;HP:0000147|Polycystic ovaries;HP:0000062|Ambiguous genitalia;HP:0000008|Abnormality of female internal genitalia;HP:0000144|Decreased fertility;HP:0000048|Bifid scrotum;HP:0008736|Hypoplasia of penis
hirschsprung disease with hypoplastic nails and dysmorphic facialfeatures	HP:0001999|Facial dysmorphism;HP:0002023|Anal atresia;HP:0000126|Hydronephrosis;HP:0001792|Hypoplastic nails;HP:0002251|Hirschsprung megacolon;HP:0000023|Inguinal hernia
vater-like defects with pulmonary hypertension, laryngeal webs, andgrowth deficiency	HP:0000286|Palpebronasal fold;HP:0001177|Preaxial hand polydactyly;HP:0005950|Laryngeal webs;HP:0000913|Posterior rib fusion;HP:0000767|Funnel chest;HP:0004322|Stature below 3rd percentile;HP:0000122|Unilateral kidney agenesis;HP:0001595|Hair abnormality;HP:0002937|Hemivertebra;HP:0001643|Persistent ductus arteriosus;HP:0002092|Pulmonary artery hypertension;HP:0001511|Prenatal onset growth retardation;HP:0000316|Increased distance between eye sockets;HP:0000592|Bluish sclerae;HP:0001629|Ventricular septal defects;HP:0000358|Ear, posterior angulation, increased;HP:0001631|Atria septal defect
glaucoma - sleep apnea	HP:0010535|Sleep apnea
hemolytic anemia due to red cell pyruvate kinase deficiency	HP:0003281|Increased serum ferritin;HP:0004804|Congenital hemolytic anemia;HP:0001744|Splenomegaly;HP:0004447|Poikilocytosis;HP:0001923|Reticulocytosis;HP:0011273|Anisocytosis;HP:0006579|Prolonged neonatal jaundice;HP:0025109|Reduced red cell pyruvate kinase activity;HP:0004870|Chronic hemolytic anemia;HP:0012463|Elevated transferrin saturation;HP:0008282|Unconjugated hyperbilirubinemia;HP:0003452|Increased serum iron;HP:0001903|Anemia;HP:0001877|Abnormality of erythrocytes;HP:0001789|Hydrops fetalis
genetic hyperferritinemia without iron overload	HP:0003281|Increased serum ferritin;HP:0002829|Arthralgia;HP:0012465|Elevated hepatic iron concentration;HP:0040135|Abnormal transferrin saturation;HP:0000518|Cataract;HP:0001808|Fragile nails;HP:0012378|Fatigue;HP:0040130|Abnormal serum iron
extrasystoles, multiform ventricular, with short stature, hyperpigmentationand microcephaly	HP:0000953|Hyperpigmentation of the skin;HP:0004322|Stature below 3rd percentile;HP:0000252|Small head circumference;HP:0006889|Intellectual disability, borderline;HP:0006682|Premature ventricular contractions
angioma, hereditary neurocutaneousspinal arterial venous malformations with cutaneous hemangiomas, included	HP:0002277|Horner's syndrome;HP:0001028|Strawberry mark;HP:0001269|Hemiparesis;HP:0002239|Gastrointestinal hemorrhage;HP:0000790|Hematuria
spondyloepimetaphyseal dysplasia congenita, strudwick type	HP:0000541|Retinal detachment;HP:0000545|Myopia;HP:0003498|Disproportionate short stature;HP:0005930|Abnormality of epiphysis morphology;HP:0003311|Hypoplasia of the odontoid process;HP:0002098|Respiratory distress;HP:0000766|Abnormality of the sternum;HP:0010306|Short thorax;HP:0002970|Genu varum;HP:0012368|Flat face;HP:0003307|Hyperlordosis;HP:0001762|Talipes equinovarus;HP:0000316|Hypertelorism;HP:0000175|Cleft palate;HP:0001288|Gait disturbance;HP:0002650|Scoliosis;HP:0002758|Osteoarthritis;HP:0002808|Kyphosis;HP:0000926|Platyspondyly;HP:0002857|Genu valgum;HP:0002812|Coxa vara;HP:0002651|Spondyloepimetaphyseal dysplasia;HP:0000944|Abnormality of the metaphyses;HP:0002983|Micromelia;HP:0100864|Short femoral neck
autosomal dominant osteosclerosis, worth type	HP:0000639|Nystagmus;HP:0005789|Generalized osteosclerosis;HP:0003312|Abnormal form of the vertebral bodies;HP:0000303|Mandibular prognathia;HP:0100861|Vertebral body sclerosis;HP:0003103|Abnormal cortical bone morphology;HP:0100923|Clavicular sclerosis;HP:0005019|Diaphyseal thickening;HP:0004493|Craniofacial hyperostosis;HP:0010628|Facial palsy;HP:0000772|Abnormality of the ribs;HP:0000407|Sensorineural hearing impairment;HP:0100789|Torus palatinus
hirsutism--skeletal dysplasia--mental retardation syndrome	HP:0000286|Palpebronasal fold;HP:0000472|Increased cervical length;HP:0002652|Skeletal dysplasia;HP:0200021|Rounded shoulders;HP:0001761|Pes cavus;HP:0001007|Hirsutism;HP:0000248|Brachycephaly;HP:0000316|Increased distance between eye sockets;HP:0000494|Downward slanting palpebral fissures;HP:0000431|Broad nasal root;HP:0002149|Hyperuricemia;HP:0000232|Everted prominent lower lip;HP:0001249|Mental retardation;HP:0002673|Coxa valga
x-linked intellectual disability, cantagrel type	HP:0002020|Gastroesophageal reflux;HP:0000322|Short philtrum;HP:0001250|Seizures;HP:0001319|Neonatal hypotonia;HP:0000729|Autistic behavior;HP:0002079|Hypoplasia of the corpus callosum;HP:0003011|Abnormality of the musculature;HP:0003196|Short nose;HP:0002119|Ventriculomegaly;HP:0000733|Stereotypy;HP:0001344|Absent speech;HP:0010804|Tented upper lip vermilion;HP:0000049|Shawl scrotum;HP:0002120|Cerebral cortical atrophy;HP:0011344|Severe global developmental delay;HP:0000565|Esotropia;HP:0002273|Tetraparesis;HP:0001249|Intellectual disability
arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmentaldelay	HP:0002803|Congenital joint contractures;HP:0000968|Ectodermal dysplasia;HP:0001510|Growth deficiency;HP:0000202|Oral clefting;HP:0001263|Developmental retardation
hsd10 disease, atypical type	HP:0000708|Behavioral abnormality;HP:0100022|Abnormality of movement;HP:0001249|Intellectual disability
autosomal recessive spastic paraplegia type 57	HP:0012447|Abnormal myelination;HP:0003551|Difficulty climbing stairs;HP:0001257|Spasticity;HP:0002540|Inability to walk;HP:0007141|Sensorimotor neuropathy;HP:0008944|Distal lower limb amyotrophy;HP:0001258|Spastic paraplegia;HP:0005109|Abnormality of the Achilles tendon;HP:0007178|Motor polyneuropathy;HP:0009830|Peripheral neuropathy;HP:0003698|Difficulty standing;HP:0000648|Optic atrophy;HP:0003487|Babinski sign;HP:0003134|Abnormality of peripheral nerve conduction
autosomal dominant robinow syndrome	HP:0000028|Cryptorchidism;HP:0011800|Midface retrusion;HP:0000520|Proptosis;HP:0000470|Short neck;HP:0001263|Global developmental delay;HP:0003196|Short nose;HP:0004322|Short stature;HP:0000039|Epispadias;HP:0000365|Hearing impairment;HP:0000592|Blue sclerae;HP:0000527|Long eyelashes;HP:0000358|Posteriorly rotated ears;HP:0005280|Depressed nasal bridge;HP:0000767|Pectus excavatum;HP:0000445|Wide nose;HP:0000508|Ptosis;HP:0008736|Hypoplasia of penis;HP:0001156|Brachydactyly syndrome;HP:0002937|Hemivertebrae;HP:0000047|Hypospadias;HP:0000582|Upslanted palpebral fissure;HP:0000347|Micrognathia;HP:0012905|Euryblepharon;HP:0006101|Finger syndactyly;HP:0002007|Frontal bossing;HP:0001537|Umbilical hernia;HP:0000369|Low-set ears;HP:0005743|Avascular necrosis of the capital femoral epiphysis;HP:0000486|Strabismus;HP:0040036|Onychogryposis of fingernail;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0010297|Bifid tongue;HP:0000668|Hypodontia;HP:0000960|Sacral dimple;HP:0004279|Short palm;HP:0000059|Hypoplastic labia majora;HP:0002714|Downturned corners of mouth;HP:0000677|Oligodontia;HP:0005306|Capillary hemangiomas;HP:0008402|Ridged fingernail;HP:0000494|Downslanted palpebral fissures;HP:0000286|Epicanthus;HP:0003312|Abnormal form of the vertebral bodies;HP:0000256|Macrocephaly;HP:0002650|Scoliosis;HP:0003042|Elbow dislocation;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0100798|Fingernail dysplasia;HP:0000023|Inguinal hernia;HP:0007665|Curly eyelashes;HP:0000060|Clitoral hypoplasia;HP:0000278|Retrognathia;HP:0002705|High, narrow palate;HP:0000064|Hypoplastic labia minora;HP:0000168|Abnormality of the gingiva;HP:0000322|Short philtrum;HP:0001249|Intellectual disability;HP:0001385|Hip dysplasia;HP:0001596|Alopecia;HP:0003510|Severe short stature;HP:0002812|Coxa vara;HP:0010807|Open bite;HP:0008501|Median cleft lip and palate;HP:0000463|Anteverted nares;HP:0000674|Anodontia;HP:0002827|Hip dislocation;HP:0100541|Femoral hernia;HP:0001328|Specific learning disability;HP:0100490|Camptodactyly of finger;HP:0000212|Gingival overgrowth;HP:0000637|Long palpebral fissure;HP:0011220|Prominent forehead;HP:0000036|Abnormality of the penis;HP:0000768|Pectus carinatum;HP:0010733|Naevus flammeus of the eyelid;HP:0011069|Increased number of teeth;HP:0002983|Micromelia;HP:0002673|Coxa valga
dandy-walker syndrome; dwsdandy-walker malformation, included; dwm, included	HP:0000639|Nystagmus;HP:0000930|Elevated imprint of the transverse sinuses;HP:0002198|Enlarged fourth ventricle;HP:0000933|Posterior fossa cyst at the fourth ventricle;HP:0006824|Cranial nerve palsy;HP:0000931|Thinning and bulging of posterior skull bones;HP:0002951|Partial absence of cerebellar vermis;HP:0002335|Agenesis of cerebellar vermis;HP:0000238|Nonsyndromal hydrocephalus;HP:0002078|Truncal ataxia
coloboma of optic nerveoptic nerve head pits, bilateral congenital, included	HP:0000541|Detached retina;HP:0000588|Optic disk coloboma
hypogonadism, primary, and partial alopecia	HP:0001596|Hair loss;HP:0000815|Primary hypogonadism;HP:0010464|Streak ovary
genetic keratinization disorder associated with ocular features	HP:0008064|Ichthyosis
distal myopathy, welander type	HP:0003198|Myopathy
pili gemini	HP:0001595|Abnormality of the hair
alport syndrome - intellectual disability - midface hypoplasia - elliptocytosis	HP:0004445|Elliptocytosis;HP:0011800|Midface, flat;HP:0001249|Mental retardation
coloboma, ocular, with or without hearing impairment, cleft lip/palate,and/or mental retardation	HP:0000518|Cataract;HP:0000568|Abnormally small globe of eye;HP:0000204|Cleft upper lip;HP:0000790|Hematuria;HP:0000508|Drooping upper eyelid;HP:0000175|Palatoschisis;HP:0001249|Mental retardation
afibrinogenemia, congenitalhypofibrinogenemia, congenital, included	HP:0001892|Bleeding diathesis;HP:0011900|Hypofibrinogenemia;HP:0012223|Ruptured spleen
deafness, autosomal dominant nonsyndromic sensorineural 3	HP:0000407|sensorineural hearing loss
charcot-marie-tooth disease with ptosis and parkinsonism	HP:0003091|Trophic limb changes;HP:0001278|Orthostatic hypotension;HP:0001300|Parkinsonism;HP:0001301|Chronic sensorineural polyneuropathy;HP:0002398|Anterior horn cell loss;HP:0005150|Abnormal atrioventricular conduction;HP:0002018|Nausea;HP:0003447|Axonal loss;HP:0002028|Chronic diarrhea;HP:0001315|Reduced tendon reflexes;HP:0011727|Fibularis muscle weakness;HP:0009049|Peroneal atrophy;HP:0000762|Decreased NCV;HP:0000975|Increased sweating;HP:0000763|Sensory neuropathy;HP:0003693|Muscle atrophy, distal;HP:0000726|Dementia;HP:0002171|Cerebral gliosis;HP:0007110|Central hypoventilation;HP:0001026|Penetrating foot ulcers;HP:0001761|Pes cavus;HP:0001347|Hyperreflexia;HP:0001678|Atrioventricular block;HP:0003009|Enhanced neurotoxicity of vincristine;HP:0000508|Drooping upper eyelid;HP:0002013|Emesis
dermatitis herpetiformis, familial	HP:0000989|pruritis
dibasic amino aciduria i	HP:0003532|Ornithinuria;HP:0003268|Argininuria;HP:0003297|High blood lysine levels;HP:0003168|Dibasicaminoaciduria;HP:0002024|Intestinal malabsorption;HP:0001249|Mental retardation
paternal uniparental disomy of chromosome 1	HP:0001336|Myoclonus;HP:0000682|Abnormality of dental enamel;HP:0004322|Short stature;HP:0007754|Macular dystrophy;HP:0000093|Proteinuria;HP:0004802|Episodic hemolytic anemia;HP:0007021|Pain insensitivity;HP:0002591|Polyphagia;HP:0000970|Anhidrosis;HP:0007641|Dyschromatopsia;HP:0000486|Strabismus;HP:0000822|Hypertension;HP:0008066|Abnormal blistering of the skin;HP:0001250|Seizures;HP:0000105|Enlarged kidney;HP:0002757|Recurrent fractures;HP:0000823|Delayed puberty;HP:0012587|Macroscopic hematuria;HP:0000529|Progressive visual loss;HP:0007272|Progressive psychomotor deterioration;HP:0003138|Increased blood urea nitrogen;HP:0030612|Abnormal retinal morphology on macular OCT;HP:0001319|Neonatal hypotonia;HP:0003072|Hypercalcemia;HP:0012444|Brain atrophy;HP:0001363|Craniosynostosis;HP:0001513|Obesity;HP:0000613|Photophobia;HP:0000793|Membranoproliferative glomerulonephritis
rhizomelic dysplasia, scoliosis, and retinitis pigmentosa	HP:0000705|Amelogenesis imperfecta;HP:0000894|Short clavicles;HP:0000486|Squint eyes;HP:0100864|Short femoral necks;HP:0000505|Poor vision;HP:0008905|Rhizomelic short limbs;HP:0000773|Rib hypoplasia;HP:0000510|Retinitis pigmentosa;HP:0002650|Scoliosis;HP:0000885|Wide ribs;HP:0007663|Central visual loss;HP:0005792|Short upper arms;HP:0000613|Extreme light sensitivity;HP:0003890|Prominent deltoid tuberosities;HP:0000470|Decreased cervical height;HP:0004586|Fish vertebrae
aprosencephaly and cerebellar dysgenesis	HP:0007268|Aprosencephaly;HP:0001762|Talipes equinovarus;HP:0007027|Poorly formed metencephalon;HP:0000193|Uvula bifida;HP:0007265|Absent mesencephalon;HP:0007973|Retinal dysplasia;HP:0006893|Severely dysplastic cerebellum
sclerocornea, autosomal dominant	HP:0000647|Sclerocornea
craniosynostosis, calcification of basal ganglia, and facial dysmorphism	HP:0000520|Anterior bulging of the globe of eye;HP:0001999|Facial dysmorphism;HP:0000252|Small head circumference;HP:0002135|Basal ganglia calcification;HP:0000327|Maxillary micrognathia;HP:0000426|Protruding bridge of nose;HP:0000336|Prominent supraorbital ridges;HP:0001363|Early fusion of cranial sutures
myoglobinuria, autosomal dominant	HP:0003236|Elevated creatine kinase;HP:0001919|Acute renal failure;HP:0001324|Muscular weakness;HP:0002913|Myoglobinuria;HP:0003326|Muscle pain
centrifugal lipodystrophy	HP:0010783|Erythema;HP:0005320|Lack of facial subcutaneous fat;HP:0001596|Alopecia;HP:0003758|Reduced subcutaneous adipose tissue;HP:0002840|Lymphadenitis;HP:0040189|Scaling skin;HP:0007485|Absence of subcutaneous fat;HP:0000765|Abnormality of the thorax;HP:0011123|Inflammatory abnormality of the skin;HP:0100578|Lipoatrophy
immune deficiency, familial variable	HP:0004315|IgG deficiency;HP:0002721|Immunodeficiency;HP:0002719|infections, recurrent;HP:0002720|Decreased immunoglobulin A
aplasia cutis congenita of limbs recessive	HP:0001057|Aplasia cutis congenita;HP:0007506|Missing skin on limbs since birth
aneurysm of interventricular septum	HP:0002617|Aneurysmal dilatation;HP:0010438|Abnormality of the ventricular septum
spondyloepimetaphyseal dysplasia, matrilin-3 type	HP:0008873|Disproportionate short-limb short stature;HP:0002938|Lumbar hyperlordosis;HP:0002515|Waddling gait;HP:0009826|Limb undergrowth;HP:0000767|Pectus excavatum;HP:0012368|Flat face;HP:0004322|Short stature;HP:0005257|Thoracic hypoplasia;HP:0002979|Bowing of the legs;HP:0001377|Limited elbow extension;HP:0003037|Enlarged joints
facial palsy, familial recurrent peripheral	HP:0010628|Facial palsy, unilateral or bilateral
gastritis, familial giant hypertrophic	HP:0003075|Hypoproteinemia;HP:0005246|Giant hypertrophic gastritis
primary release disorder of platelets	HP:0004406|Recurrent epistaxes;HP:0000132|Hypermenorrhea;HP:0000978|Bruisability
thrombocytopenia with elevated serum iga and renal disease	HP:0000099|Glomerular nephritis;HP:0003261|Elevated IgA;HP:0001892|Bleeding diathesis;HP:0001873|Low platelet count;HP:0000790|Hematuria
hemifacial spasm, familial	HP:0010828|Hemifacial spasm
hypertelorism and tetralogy of fallot	HP:0000047|Hypospadias;HP:0000286|Palpebronasal fold;HP:0000369|Low-set ears;HP:0000581|Blepharophimosis;HP:0001643|Persistent ductus arteriosus;HP:0003298|Spina bifida occulta;HP:0001762|Talipes equinovarus;HP:0005280|Flat, nasal bridge;HP:0001636|Tetrology of fallot;HP:0000316|Increased distance between eye sockets;HP:0001256|Mild mental retardation;HP:0000343|Vertical hyperplasia of philtrum;HP:0000358|Ear, posterior angulation, increased;HP:0011659|Tetralogy of Fallot with absent pulmonary valve syndrome;HP:0001655|Patent foramen ovale
reese retinal dysplasia	HP:0007973|Retinal dysplasia;HP:0007968|Persistent fetal vasculature
holoprosencephaly, recurrent infections, and monocytosis	HP:0001360|Single brain ventricle;HP:0003186|Invaginated nipples;HP:0000286|Palpebronasal fold;HP:0001999|Facial dysmorphism;HP:0000028|Cryptorchidism;HP:0000252|Small head circumference;HP:0001831|Short toes;HP:0000377|Malformation of auricle;HP:0001156|Brachydactyly;HP:0010864|Early and severe mental retardation;HP:0009381|Hypoplastic fingers;HP:0001182|Tapered finger;HP:0002719|infections, recurrent;HP:0000248|Brachycephaly;HP:0001508|Weight faltering;HP:0012311|High blood monocyte number;HP:0001274|Absent corpus callosum;HP:0000054|Short penis;HP:0000340|Receding forehead;HP:0006887|Progressive mental retardation;HP:0001581|Recurrent skin infections
hyperparathyroidism, primary, caused by water clear cell hyperplasia	HP:0008200|Primary hyperparathyroidism
ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features	HP:0000767|Funnel chest;HP:0000486|Squint eyes;HP:0000347|Hypoplasia of mandible;HP:0000490|Sunken eyes;HP:0011800|Midface, flat;HP:0009466|Radially deviated phalanges;HP:0000613|Extreme light sensitivity;HP:0000047|Hypospadias;HP:0000968|Ectodermal dysplasia;HP:0001939|Laboratory abnormality;HP:0002808|Gibbus deformity;HP:0000426|Protruding bridge of nose;HP:0000276|Long face;HP:0000535|Thin, sparse eyebrows;HP:0030084|Clinodactyly;HP:0000218|Increased palatal height;HP:0001128|Trichiasis of eyelid eyelashes;HP:0000023|Inguinal hernia;HP:0000322|Short philtrum;HP:0000272|Depressed malar region;HP:0000621|Eyelid turned in;HP:0000407|sensorineural hearing loss
hypoparathyroidism-deafness-renal disease syndrome	HP:0000860|Parathyroid hypoplasia;HP:0005402|Primary T-lymphocyte immune abnormalities;HP:0000083|Renal insufficiency;HP:0001627|Abnormal heart morphology;HP:0000126|Hydronephrosis;HP:0000122|Unilateral renal agenesis;HP:0000151|Aplasia of the uterus;HP:0003765|Psoriasis;HP:0000076|Vesicoureteral reflux;HP:0000148|Vaginal atresia;HP:0000175|Cleft palate;HP:0002901|Hypocalcemia;HP:0000510|Rod-cone dystrophy;HP:0003762|Uterus didelphys;HP:0000408|Progressive sensorineural hearing impairment;HP:0001153|Septate vagina;HP:0008850|Severe postnatal growth retardation;HP:0000110|Renal dysplasia;HP:0000829|Hypoparathyroidism;HP:0002199|Hypocalcemic seizures;HP:0000113|Polycystic kidney dysplasia;HP:0000819|Diabetes mellitus
mesomelic dwarfism of hypoplastic tibia and radius type	HP:0005736|Short tibia;HP:0008845|Mesomelic dwarfism;HP:0008921|Dwarfism, neonatal short-limbed;HP:0005864|Pseudoarthroses;HP:0002984|Hypoplastic radius
dyssegmental dysplasia with glaucoma	HP:0000520|Anterior bulging of the globe of eye;HP:0002987|Elbow contracture;HP:0000272|Depressed malar region;HP:0000926|Flattened vertebral bodies;HP:0000268|Dolichocephaly;HP:0003273|Flexion contracture of hips;HP:0002663|Delayed opacification of the epiphyses;HP:0000260|Wide anterior fontanel;HP:0005622|Widened long bones;HP:0003026|shortened long tubular bones;HP:0000501|Glaucoma;HP:0000175|Palatoschisis;HP:0003015|Metaphyseal splaying;HP:0002983|Micromelia
epiphyseal dysplasia, multiple, with severe proximal femoral dysplasia	HP:0004322|Stature below 3rd percentile;HP:0100864|Short femoral necks;HP:0001155|Hand anomalies;HP:0002834|Flared metaphysis of thigh bone;HP:0000926|Flattened vertebral bodies;HP:0002812|Coxa vara;HP:0006429|Broadening of femoral neck;HP:0003365|Coxalgia;HP:0002656|Epiphyseal dysplasia;HP:0006398|Flat distal femoral epiphysis;HP:0004582|Irregularity of vertebral bodies;HP:0002857|Genu valgum;HP:0003411|Proximal femoral metaphyseal irregularity;HP:0002829|Arthralgias
subaortic stenosis, membranous	HP:0001682|Subvalvular aortic stenosis
clark-baraitser syndrome	HP:0002054|Heavy brow of the face;HP:0000256|Macrocrania;HP:0001566|Wide gap between upper central incisors;HP:0002808|Gibbus deformity;HP:0002711|Deep median tongue furrow;HP:0004279|Hypoplastic hands;HP:0002708|Prominent central ridge on roof of the mouth;HP:0002007|Frontal protruberance;HP:0000179|Plump lower lip;HP:0001249|Mental retardation;HP:0002816|Back knee;HP:0001169|Wide palm;HP:0001250|Seizures;HP:0001388|Joint laxity;HP:0002650|Scoliosis;HP:0001182|Tapered finger;HP:0000455|Increased breadth of tip of nose;HP:0002857|Genu valgum;HP:0000053|Macroorchidism;HP:0001513|Obesity;HP:0000098|Increased body height;HP:0000280|Coarse facial features;HP:0000494|Downward slanting palpebral fissures;HP:0011220|Prominent forehead;HP:0001593|Maxillary lateral incisor microdontia
epstein-barr virus, susceptibility to chronic infection by	HP:0002110|Bronchiectasis;HP:0001744|Splenomegaly;HP:0001945|Fever;HP:0000246|Sinus inflammation;HP:0002090|Pneumonia
talonavicular coalition	HP:0009177|Proximal 5th finger symphalangism;HP:0004209|Clinodactyly of fifth digit
patent ductus arteriosus and bicuspid aortic valve with hand anomalies	HP:0004209|Clinodactyly of fifth digit;HP:0001831|Short toes;HP:0009381|Hypoplastic fingers;HP:0001647|Bicuspid aortic valve;HP:0001643|Persistent ductus arteriosus;HP:0005295|Pseudocoarctation of the aorta;HP:0010047|Hypoplastic 5th metacarpal;HP:0001156|Brachydactyly
thai symphalangism syndrome	HP:0004322|Stature below 3rd percentile;HP:0001830|Posterior polydactyly of foot;HP:0001204|Symphalangism affecting the distal phalanges of the hand;HP:0001831|Short toes;HP:0000385|Small earlobes;HP:0000668|Failure of development of between one and six teeth;HP:0000426|Protruding bridge of nose;HP:0009381|Hypoplastic fingers;HP:0000218|Increased palatal height;HP:0008589|Underdeveloped helices;HP:0000431|Broad nasal root;HP:0000289|Broad philtrum;HP:0001162|Postaxial polydactyly of fingers;HP:0000508|Drooping upper eyelid;HP:0000268|Dolichocephaly;HP:0001156|Brachydactyly;HP:0006152|Proximal interphalangeal joint synostoses
pleoconial myopathy with salt craving	HP:0003701|Proximal limb muscle weakness;HP:0001270|Motor retardation;HP:0001319|Hypotonia, in neonatal onset;HP:0030083|Salt craving;HP:0007126|Proximal amyotrophy
nk-cell enteropathy	HP:0002020|Gastroesophageal reflux;HP:0002592|Gastric ulcer;HP:0002588|Duodenal ulcer;HP:0012425|Stercoral ulcer;HP:0005266|Intestinal polyp;HP:0005523|Lymphoproliferative disorder;HP:0002014|Diarrhea;HP:0002027|Abdominal pain;HP:0002019|Constipation;HP:0100828|Increase in T cell count;HP:0002573|Hematochezia;HP:0004295|Abnormality of the gastric mucosa;HP:0002253|Colonic diverticula;HP:0000969|Edema
nystagmus, myoclonic	HP:0000639|Nystagmus;HP:0001336|Myoclonic jerks
primary dystonia, dyt13 type	HP:0000473|Torticollis;HP:0012179|Craniofacial dystonia;HP:0002172|Postural instability;HP:0007325|Generalized dystonia;HP:0002451|Limb dystonia;HP:0000733|Stereotypy;HP:0004305|Involuntary movements;HP:0001332|Dystonia;HP:0001304|Torsion dystonia;HP:0006961|Jerky head movements;HP:0002174|Postural tremor;HP:0001609|Hoarse voice;HP:0004373|Focal dystonia;HP:0002345|Action tremor
cranioacrofacial syndrome	HP:0005922|Abnormal hand morphology;HP:0001642|Pulmonic stenosis;HP:0001629|Ventricular septal defects;HP:0005679|Dupuytren contracture;HP:0000275|Decreased width of face
spondyloepiphyseal dysplasia with atlantoaxial instability	HP:0005667|Os odontoideum;HP:0002655|Spondyloepiphyseal dysplasia;HP:0004322|Stature below 3rd percentile;HP:0001348|Brisk reflexes;HP:0003467|Atlantoaxial instability;HP:0002938|Exaggerated lumbar lordosis;HP:0002878|Respiratory failure;HP:0001308|Tongue fasciculation;HP:0001388|Joint laxity;HP:0003090|Hypoplasia of the capital femoral epiphysis;HP:0001283|Bulbar palsies;HP:0009130|Amyotrophy involving the musculature of the hand;HP:0002750|Delayed bone maturation;HP:0001269|Hemiparesis;HP:0003690|Limb weakness;HP:0002273|Tetraparesis;HP:0003414|Atlantoaxial subluxation;HP:0008489|Spondylolisthesis at L5-S1;HP:0003304|Spondylolysis;HP:0011448|Ankle clonus
dens in dente and palatal invaginations	HP:0011088|Dens invaginatus
dermoid cysts, familial frontonasal	HP:0001250|Seizures;HP:0001085|Papilledema;HP:0002357|Dysphasia;HP:0000951|dermatopathy;HP:0000458|Anosmia;HP:0000316|Increased distance between eye sockets;HP:0000431|Broad nasal root;HP:0001742|Obstruction of nose;HP:0000751|Personality changes;HP:0004411|Crooked septum of nose
chondrodysplasia calcificans metaphysealis	HP:0003510|Proportionate dwarfism;HP:0005871|Metaphyseal chondrodysplasia;HP:0008155|Mucopolysacchariduria
maternal uniparental disomy of chromosome 4	HP:0003707|Calf muscle pseudohypertrophy;HP:0001310|Dysmetria;HP:0100513|Vitamin E deficiency;HP:0004322|Short stature;HP:0000873|Diabetes insipidus;HP:0001146|Pigmentary retinal degeneration;HP:0002630|Fat malabsorption;HP:0008897|Postnatal growth retardation;HP:0002600|Hyporeflexia of lower limbs;HP:0000750|Delayed speech and language development;HP:0003563|Hypobetalipoproteinemia;HP:0001251|Ataxia;HP:0000707|Abnormality of the nervous system;HP:0003236|Elevated serum creatine phosphokinase;HP:0000662|Nyctalopia;HP:0002014|Diarrhea;HP:0002064|Spastic gait;HP:0010831|Impaired proprioception;HP:0004905|Vitamin A deficiency;HP:0000407|Sensorineural hearing impairment;HP:0011900|Hypofibrinogenemia;HP:0010875|Chaddock reflex;HP:0003722|Neck flexor weakness;HP:0002495|Impaired vibratory sensation;HP:0100651|Type I diabetes mellitus;HP:0004325|Decreased body weight;HP:0000510|Rod-cone dystrophy;HP:0008181|Abetalipoproteinemia;HP:0011892|Vitamin K deficiency;HP:0000648|Optic atrophy;HP:0003146|Hypocholesterolemia;HP:0000011|Neurogenic bladder;HP:0001249|Intellectual disability;HP:0001927|Acanthocytosis;HP:0004395|Malnutrition;HP:0001123|Visual field defect;HP:0000716|Depression;HP:0001877|Abnormality of erythrocytes;HP:0006785|Limb-girdle muscular dystrophy
lissencephaly type iii and bone dysplasia	HP:0002365|Hypoplasia of the brainstem;HP:0001939|Laboratory abnormality;HP:0002089|Hypoplastic lungs;HP:0001989|Fetal akinesia sequence;HP:0002804|Arthrogryposis multiplex congenita;HP:0007009|Central nervous system degeneration;HP:0002335|Agenesis of cerebellar vermis;HP:0001274|Absent corpus callosum;HP:0045028|Type III lissencephaly;HP:0002304|Akinesia;HP:0002529|Neuronal loss in central nervous system;HP:0001561|Hydramnios
microspherophakia with hernia	HP:0000541|Detached retina;HP:0000545|Near sightedness;HP:0008019|Superior lens subluxation;HP:0000023|Inguinal hernia
diverticulosis of bowel, hernia, and retinal detachment	HP:0000541|Detached retina;HP:0100541|Crural hernia;HP:0002253|Colonic diverticulosis;HP:0000486|Squint eyes;HP:0000545|Near sightedness;HP:0000023|Inguinal hernia;HP:0000015|Bladder diverticula;HP:0002256|Small bowel diverticula
mucopolysaccharidosis type 4	HP:0000670|Carious teeth;HP:0000470|Short neck;HP:0006487|Bowing of the long bones;HP:0000682|Abnormality of dental enamel;HP:0100543|Cognitive impairment;HP:0004322|Short stature;HP:0001654|Abnormality of the heart valves;HP:0000365|Hearing impairment;HP:0005930|Abnormality of epiphysis morphology;HP:0001373|Joint dislocation;HP:0010306|Short thorax;HP:0000154|Wide mouth;HP:0003307|Hyperlordosis;HP:0005692|Joint hyperflexibility;HP:0000164|Abnormality of the teeth;HP:0000772|Abnormality of the ribs;HP:0007957|Corneal opacity;HP:0000683|Grayish enamel;HP:0001288|Gait disturbance;HP:0000256|Macrocephaly;HP:0002650|Scoliosis;HP:0002808|Kyphosis;HP:0000926|Platyspondyly;HP:0002857|Genu valgum;HP:0003416|Spinal canal stenosis;HP:0002750|Delayed skeletal maturation;HP:0000463|Anteverted nares;HP:0008155|Mucopolysacchariduria;HP:0000280|Coarse facial features;HP:0100790|Hernia;HP:0004349|Reduced bone mineral density;HP:0000768|Pectus carinatum;HP:0000944|Abnormality of the metaphyses;HP:0002673|Coxa valga
metaphyseal chondrodysplasia with retinitis pigmentosa	HP:0000510|Retinitis pigmentosa;HP:0010049|Metacarpal hypoplasia;HP:0009882|Hypoplastic terminal phalanges;HP:0005871|Metaphyseal chondrodysplasia
ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin	HP:0007503|Generalized ichthyosis;HP:0001249|Mental retardation
coloboma-obesity-hypogenitalism-mental retardation syndrome	HP:0000028|Cryptorchidism;HP:0001513|Obesity;HP:0000518|Cataract;HP:0000771|Gynaecomastia;HP:0000510|Retinitis pigmentosa;HP:0006889|Intellectual disability, borderline;HP:0000568|Abnormally small globe of eye;HP:0000238|Nonsyndromal hydrocephalus;HP:0000480|Retinal coloboma;HP:0000135|Hypogonadism
orbital margin, hypoplasia of	HP:0007647|Congenital extraocular muscle anomaly;HP:0000564|Imperforate nasolacrimal ducts;HP:0000652|Cleft lower eyelid
thoracopelvic dysostosis	HP:0002643|Respiratory distress, neonatal;HP:0000773|Rib hypoplasia;HP:0004322|Stature below 3rd percentile
pulmonary nodular lymphoid hyperplasia, familial	HP:0000794|IgA deposition in the glomerulus;HP:0100759|Finger clubbing;HP:0003493|Elevated antinuclear antibody;HP:0003546|Exercise intolerance;HP:0002086|Respiratory abnormality;HP:0002725|Systemic lupus erythematosus;HP:0001370|Rheumatoid arthritis;HP:0010702|Hypergammaglobulinaemia
mental retardation with spastic paraplegia	HP:0001258|Spastic paraplegia, lower limb;HP:0001249|Mental retardation;HP:0006983|Slowly progressive spastic quadriparesis
adenosine triphosphatase deficiency, anemia due to	HP:0001930|Nonspherocytic hemolytic anemia
immune defect due to absence of thymus	HP:0000976|Eczematoid dermatitis;HP:0006532|Pneumonia, recurrent episodes;HP:0002110|Bronchiectasis;HP:0001888|Lymphocytopenia;HP:0002097|Pulmonary emphysema;HP:0000999|Pyoderma;HP:0002028|Chronic diarrhea;HP:0001508|Weight faltering;HP:0002972|Decreased reactivity to skin test antigens;HP:0006538|Recurrent bronchopulmonary infections;HP:0001433|Enlarged liver and spleen;HP:0005899|Metaphyseal dysostosis
whistling face syndrome, recessive form	HP:0000581|Blepharophimosis;HP:0000347|Hypoplasia of mandible;HP:0011800|Midface, flat;HP:0000316|Increased distance between eye sockets;HP:0000343|Vertical hyperplasia of philtrum;HP:0000470|Decreased cervical height;HP:0000430|Nasal cartilage hypoplasia;HP:0000286|Palpebronasal fold;HP:0000506|Telecanthus;HP:0000426|Protruding bridge of nose;HP:0001762|Talipes equinovarus;HP:0006380|Contractures of knees;HP:0009465|Medially deviated fingers;HP:0000171|Hypoglossia;HP:0002751|Kyphoscoliosis;HP:0000218|Increased palatal height;HP:0012745|Decreased height of palpebral fissure;HP:0003044|Shoulder flexion contracture;HP:0000346|Whistling facial appearance;HP:0000023|Inguinal hernia;HP:0002987|Elbow contracture;HP:0012385|Camptodactyly;HP:0000272|Depressed malar region;HP:0000160|Small mouth;HP:0000508|Drooping upper eyelid;HP:0010751|Gelasin of chin
coloboma of macula and skeletal anomalies	HP:0000639|Nystagmus;HP:0001116|Macular coloboma;HP:0001822|Hallux valgus;HP:0000540|Hypermetropia;HP:0005001|Recurrent patellar dislocation;HP:0009184|Contracture of the distal interphalangeal joint of the 5th finger;HP:0002857|Genu valgum;HP:0000175|Palatoschisis;HP:0000340|Receding forehead;HP:0002673|Coxa valga
cerebellar hypoplasia with endosteal sclerosis	HP:0000639|Nystagmus;HP:0001374|Congenital hip dislocation;HP:0000677|Failure of development of more than six teeth;HP:0000252|Small head circumference;HP:0004322|Stature below 3rd percentile;HP:0001263|Developmental retardation;HP:0000486|Squint eyes;HP:0001251|Ataxia;HP:0001321|Small cerebellum
cerebral-cerebellar-coloboma syndrome, x-linked	HP:0001252|Hypotonia;HP:0001250|Seizures;HP:0002245|Meckel diverticulum;HP:0000567|Chorioretinal coloboma;HP:0000772|Rib anomalies;HP:0001263|Developmental retardation;HP:0000369|Low-set ears;HP:0006956|Lateral ventricle dilatation;HP:0000932|Abnormality of the posterior fossa;HP:0000256|Macrocrania;HP:0006817|Aplasia/Hypoplasia of the cerebellar vermis;HP:0000238|Nonsyndromal hydrocephalus;HP:0011398|Central hypotonia;HP:0001274|Absent corpus callosum;HP:0002104|Absence of spontaneous respiration;HP:0000358|Ear, posterior angulation, increased
spondyloepiphyseal dysplasia, myopia, and sensorineural deafness	HP:0002515|Waddling gait;HP:0000541|Detached retina;HP:0004322|Stature below 3rd percentile;HP:0002938|Exaggerated lumbar lordosis;HP:0000545|Near sightedness;HP:0003090|Hypoplasia of the capital femoral epiphysis;HP:0002656|Epiphyseal dysplasia;HP:0000407|sensorineural hearing loss;HP:0001763|Pes planus;HP:0000592|Bluish sclerae;HP:0030084|Clinodactyly;HP:0008812|Flattened femoral head;HP:0000470|Decreased cervical height;HP:0000926|Flattened vertebral bodies;HP:0002655|Spondyloepiphyseal dysplasia
sebaceous gland hyperplasia, familial presenile	HP:0000951|dermatopathy
ehlers-danlos syndrome, kyphoscoliotic and deafness type	HP:0002421|Poor head control;HP:0000545|Myopia;HP:0012374|Abnormality of the globe;HP:0000978|Bruising susceptibility;HP:0001519|Disproportionate tall stature;HP:0003198|Myopathy;HP:0000974|Hyperextensible skin;HP:0001075|Atrophic scars;HP:0001270|Motor delay;HP:0003236|Elevated serum creatine phosphokinase;HP:0007502|Follicular hyperkeratosis;HP:0000407|Sensorineural hearing impairment;HP:0002751|Kyphoscoliosis;HP:0003388|Easy fatigability;HP:0000938|Osteopenia;HP:0006829|Severe muscular hypotonia;HP:0001382|Joint hypermobility;HP:0001324|Muscle weakness;HP:0001763|Pes planus;HP:0100790|Hernia;HP:0025019|Arterial rupture;HP:0003202|Skeletal muscle atrophy;HP:0000482|Microcornea
epiphyseal dysplasia, multiple, with miniepiphyses	HP:0100864|Short femoral necks;HP:0004322|Stature below 3rd percentile;HP:0002970|Genu varum;HP:0006429|Broadening of femoral neck;HP:0002938|Exaggerated lumbar lordosis;HP:0002656|Epiphyseal dysplasia;HP:0002761|Increased joint mobility;HP:0003065|Small patella
autoimmune polyendocrinopathy type 3	HP:0001973|Autoimmune thrombocytopenia;HP:0000863|Central diabetes insipidus;HP:0003613|Antiphospholipid antibody positivity;HP:0000815|Hypergonadotropic hypogonadism;HP:0012220|Non-caseating epithelioid cell granulomatosis;HP:0001045|Vitiligo;HP:0002960|Autoimmunity;HP:0002608|Celiac disease;HP:0011771|Autoimmune hypoparathyroidism;HP:0000217|Xerostomia;HP:0100647|Graves disease;HP:0001970|Tubulointerstitial nephritis;HP:0010625|Anterior pituitary dysgenesis;HP:0010451|Aplasia/Hypoplasia of the spleen;HP:0001882|Leukopenia;HP:0005397|Exaggerated cellular immune processes;HP:0004313|Decreased antibody level in blood;HP:0000872|Hashimoto thyroiditis;HP:0008066|Abnormal blistering of the skin;HP:0100651|Type I diabetes mellitus;HP:0002582|Chronic atrophic gastritis;HP:0001094|Iridocyclitis;HP:0100522|Thymoma;HP:0000938|Osteopenia;HP:0001972|Macrocytic anemia;HP:0030057|Autoimmune antibody positivity;HP:0001370|Rheumatoid arthritis;HP:0001596|Alopecia;HP:0001097|Keratoconjunctivitis sicca;HP:0002613|Biliary cirrhosis;HP:0006530|Interstitial pulmonary disease;HP:0008207|Primary adrenal insufficiency;HP:0012115|Hepatitis;HP:0002728|Chronic mucocutaneous candidiasis
hairy nose tip	HP:0001595|Hair abnormality
atypical mycobacteriosis, familial	HP:0001871|Abnormality of blood and blood-forming tissues;HP:0005661|Salmonella osteomyelitis;HP:0001438|Abnormality of the abdomen
myopathy, distal, with early respiratory failure, autosomal dominant	HP:0002792|Decreased vital capacity;HP:0003236|Elevated creatine kinase;HP:0003805|Rimmed vacuoles;HP:0003749|Hip girdle muscle weakness;HP:0003547|Muscle weakness, shoulder-girdle;HP:0003458|EMG: myopathic abnormalities;HP:0003731|Quadriceps weakness;HP:0002877|Nocturnal under breathing;HP:0009027|Foot drop;HP:0003722|Neck flexor muscle weakness;HP:0002093|progressive respiratory failure;HP:0003555|Fiber splitting
primary parathyroid hyperplasia	HP:0004398|Peptic ulcer;HP:0000787|Nephrolithiasis;HP:0012378|Fatigue;HP:0002015|Dysphagia;HP:0003165|Elevated circulating parathyroid hormone level;HP:0001733|Pancreatitis;HP:0008208|Parathyroid hyperplasia;HP:0002019|Constipation;HP:0002653|Bone pain;HP:0000083|Renal insufficiency;HP:0002148|Hypophosphatemia;HP:0000934|Chondrocalcinosis;HP:0002017|Nausea and vomiting;HP:0002574|Episodic abdominal pain;HP:0008200|Primary hyperparathyroidism;HP:0002150|Hypercalciuria;HP:0000121|Nephrocalcinosis;HP:0000939|Osteoporosis;HP:0001959|Polydipsia;HP:0003072|Hypercalcemia;HP:0001324|Muscle weakness;HP:0012232|Shortened QT interval;HP:0002315|Headache
citrulline transport defect	HP:0001939|Laboratory abnormality;HP:0001510|Growth deficiency
spondyloepiphyseal dysplasia tarda, autosomal dominant	HP:0000272|Depressed malar region;HP:0002751|Kyphoscoliosis;HP:0000926|Flattened vertebral bodies;HP:0001369|Arthritis;HP:0002938|Exaggerated lumbar lordosis;HP:0001552|Barrel chest;HP:0003311|Odontoid hypoplasia;HP:0005743|Perthes-like femoral head changes;HP:0003308|Cervical subluxation;HP:0000768|Pectus carinatum;HP:0000470|Decreased cervical height;HP:0008922|Short-trunk dwarfism identifiable during childhood;HP:0003301|vertebral endplate irregularity;HP:0002655|Spondyloepiphyseal dysplasia
familial parathyroid adenoma	HP:0003109|Hyperphosphaturia;HP:0003072|Hypercalcemia;HP:0004724|Calcium nephrolithiasis;HP:0040160|Generalized osteoporosis;HP:0005017|Polyarticular chondrocalcinosis;HP:0002150|Hypercalciuria;HP:0000083|Renal insufficiency;HP:0001712|Left ventricular hypertrophy;HP:0006780|Parathyroid carcinoma;HP:0000121|Nephrocalcinosis;HP:0003165|Elevated circulating parathyroid hormone level;HP:0002757|Recurrent fractures;HP:0008208|Parathyroid hyperplasia;HP:0000938|Osteopenia;HP:0010639|Elevated alkaline phosphatase of bone origin;HP:0008200|Primary hyperparathyroidism;HP:0004380|Aortic valve calcification;HP:0002148|Hypophosphatemia;HP:0002897|Parathyroid adenoma;HP:0004382|Mitral valve calcification
collagenosis, familial reactive perforating	HP:0001939|Laboratory abnormality;HP:0000951|dermatopathy
inclusion body myopathy, quadriceps-sparing	HP:0003797|Limb-girdle muscle atrophy;HP:0003325|Limb girdle weakness;HP:0003701|Proximal limb muscle weakness;HP:0001288|Gait disturbance;HP:0003236|Elevated creatine kinase;HP:0003693|Muscle atrophy, distal;HP:0003805|Rimmed vacuoles;HP:0003458|EMG: myopathic abnormalities;HP:0003791|Deposits immunoreactive to beta-amyloid protein
ovalocytosis, hereditary hemolytic	HP:0004445|Elliptocytosis;HP:0001878|Haemolytic anaemia
hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0001744|Splenomegaly;HP:0011904|Persistence of hemoglobin F;HP:0002240|Hepatomegaly;HP:0000980|Pallor;HP:0001903|Anemia;HP:0003330|Abnormal bone structure
hypoplastic tibiae-postaxial polydactyly syndrome	HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0001177|Preaxial hand polydactyly;HP:0006101|Finger syndactyly;HP:0006487|Bowing of the long bones;HP:0010503|Fibular duplication;HP:0001199|Triphalangeal thumb;HP:0005736|Short tibia;HP:0004322|Short stature;HP:0012107|Increased fibular diameter;HP:0002991|Abnormality of the fibula;HP:0100490|Camptodactyly of finger;HP:0001162|Postaxial hand polydactyly;HP:0000437|Depressed nasal tip;HP:0001376|Limitation of joint mobility;HP:0004209|Clinodactyly of the 5th finger
cataract-intellectual disability-hypogonadism syndrome	HP:0000044|Hypogonadotrophic hypogonadism;HP:0000028|Cryptorchidism;HP:0011800|Midface retrusion;HP:0001155|Abnormality of the hand;HP:0000518|Cataract;HP:0000692|Misalignment of teeth;HP:0004322|Short stature;HP:0000248|Brachycephaly;HP:0000601|Hypotelorism;HP:0000218|High palate;HP:0005280|Depressed nasal bridge;HP:0007477|Abnormal dermatoglyphics;HP:0000232|Everted lower lip vermilion;HP:0007495|Prematurely aged appearance;HP:0000347|Micrognathia;HP:0003307|Hyperlordosis;HP:0009465|Ulnar deviation of finger;HP:0002120|Cerebral cortical atrophy;HP:0008388|Abnormality of the toenails;HP:0008872|Feeding difficulties in infancy;HP:0000221|Furrowed tongue;HP:0009738|Abnormality of the antihelix;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0000272|Malar flattening;HP:0001249|Intellectual disability;HP:0000322|Short philtrum;HP:0002162|Low posterior hairline;HP:0009832|Abnormality of the distal phalanx of finger;HP:0000368|Low-set, posteriorly rotated ears
hypomyelination-congenital cataract syndrome	HP:0001317|Abnormality of the cerebellum;HP:0001263|Global developmental delay;HP:0002342|Intellectual disability, moderate;HP:0006808|Cerebral hypomyelination;HP:0007256|Abnormal pyramidal signs;HP:0000519|Congenital cataract
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	HP:0000609|Optic nerve hypoplasia;HP:0000857|Neonatal insulin-dependent diabetes mellitus;HP:0000331|Short chin;HP:0000369|Low-set ears;HP:0000325|Triangular face;HP:0001321|Cerebellar hypoplasia;HP:0100800|Aplasia/Hypoplasia of the pancreas
spondyloperipheral dysplasia-short ulna syndrome	HP:0003022|Hypoplasia of the ulna;HP:0100734|Abnormality of vertebral epiphysis morphology;HP:0000944|Abnormality of the metaphyses;HP:0004322|Short stature;HP:0005863|Type E brachydactyly;HP:0010049|Short metacarpal;HP:0000926|Platyspondyly;HP:0001376|Limitation of joint mobility;HP:0000768|Pectus carinatum;HP:0010579|Cone-shaped epiphysis;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0002983|Micromelia;HP:0001156|Brachydactyly syndrome
short stature-advanced bone age-early-onset osteoarthritis syndrome	HP:0011800|Midface retrusion;HP:0007281|Developmental stagnation;HP:0002758|Osteoarthritis;HP:0009778|Short thumb;HP:0001156|Brachydactyly syndrome
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0000160|Narrow mouth;HP:0001250|Seizures;HP:0001653|Mitral regurgitation;HP:0000256|Macrocephaly;HP:0000506|Telecanthus;HP:0000348|High forehead;HP:0100542|Abnormal localization of kidney;HP:0001629|Ventricular septal defect;HP:0002126|Polymicrogyria;HP:0000316|Hypertelorism;HP:0001162|Postaxial hand polydactyly;HP:0005105|Abnormal nasal morphology;HP:0005280|Depressed nasal bridge;HP:0000238|Hydrocephalus;HP:0001355|Megalencephaly;HP:0001671|Abnormality of the cardiac septa
tetraamelia-multiple malformations syndrome	HP:0000028|Cryptorchidism;HP:0000160|Narrow mouth;HP:0001274|Agenesis of corpus callosum;HP:0000568|Microphthalmia;HP:0002023|Anal atresia;HP:0000518|Cataract;HP:0002777|Tracheal stenosis;HP:0009103|Aplasia/Hypoplasia involving the pelvis;HP:0100842|Septo-optic dysplasia;HP:0001600|Abnormality of the larynx;HP:0000347|Micrognathia;HP:0002101|Abnormal lung lobation;HP:0009924|Aplasia/Hypoplasia involving the nose;HP:0000921|Missing ribs;HP:0006709|Aplasia/Hypoplasia of the nipples;HP:0000772|Abnormality of the ribs;HP:0003057|Tetraamelia;HP:0100569|Abnormal vertebral ossification;HP:0000612|Iris coloboma;HP:0000148|Vaginal atresia;HP:0000003|Multicystic kidney dysplasia;HP:0000648|Optic atrophy;HP:0000202|Oral cleft;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0000482|Microcornea;HP:0008551|Microtia;HP:0000238|Hydrocephalus;HP:0001561|Polyhydramnios
x-linked intellectual disability-dandy-walker malformation-basal ganglia disease-seizures syndrome	HP:0000028|Cryptorchidism;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0000256|Macrocephaly;HP:0000486|Strabismus;HP:0002119|Ventriculomegaly;HP:0002120|Cerebral cortical atrophy;HP:0000023|Inguinal hernia
hemoglobin e-beta-thalassemia syndrome	HP:0003281|Increased serum ferritin;HP:0001903|Anemia;HP:0011902|Abnormal hemoglobin;HP:0002721|Immunodeficiency
autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0000639|Nystagmus;HP:0000307|Pointed chin;HP:0004322|Short stature;HP:0002269|Abnormality of neuronal migration;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0000486|Strabismus;HP:0002120|Cerebral cortical atrophy;HP:0001511|Intrauterine growth retardation;HP:0001276|Hypertonia;HP:0001250|Seizures;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0000648|Optic atrophy;HP:0007703|Abnormality of retinal pigmentation;HP:0000431|Wide nasal bridge;HP:0001249|Intellectual disability;HP:0000411|Protruding ear;HP:0000505|Visual impairment;HP:0000463|Anteverted nares;HP:0004422|Biparietal narrowing;HP:0000499|Abnormality of the eyelashes;HP:0000340|Sloping forehead
anophthalmia/microphthalmia-esophageal atresia syndrome	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0001274|Agenesis of corpus callosum;HP:0000568|Microphthalmia;HP:0000647|Sclerocornea;HP:0001629|Ventricular septal defect;HP:0000878|11 pairs of ribs;HP:0000365|Hearing impairment;HP:0001360|Holoprosencephaly;HP:0002575|Tracheoesophageal fistula;HP:0002032|Esophageal atresia;HP:0000572|Visual loss;HP:0008736|Hypoplasia of penis;HP:0002937|Hemivertebrae;HP:0000047|Hypospadias;HP:0001643|Patent ductus arteriosus;HP:0001510|Growth delay;HP:0000612|Iris coloboma;HP:0000528|Anophthalmia;HP:0003468|Abnormality of the vertebrae;HP:0001249|Intellectual disability;HP:0000238|Hydrocephalus
camptodactyly-tall stature-scoliosis-hearing loss syndrome	HP:0000365|Hearing impairment;HP:0100490|Camptodactyly of finger;HP:0100491|Abnormality of lower limb joint;HP:0002650|Scoliosis
syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0000066|Labial hypoplasia;HP:0011560|Mitral atresia;HP:0002023|Anal atresia;HP:0004322|Short stature;HP:0000545|Myopia;HP:0001770|Toe syndactyly;HP:0000625|Cleft eyelid;HP:0001659|Aortic regurgitation;HP:0007754|Macular dystrophy;HP:0000394|Lop ear;HP:0000083|Renal insufficiency;HP:0000086|Ectopic kidney;HP:0000506|Telecanthus;HP:0003396|Syringomyelia;HP:0000104|Renal agenesis;HP:0000076|Vesicoureteral reflux;HP:0001250|Seizures;HP:0002984|Hypoplasia of the radius;HP:0004415|Pulmonary artery stenosis;HP:0000057|Clitoromegaly;HP:0000813|Bicornuate uterus;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0000085|Horseshoe kidney;HP:0000556|Retinal dystrophy;HP:0000219|Thin upper lip vermilion;HP:0000414|Bulbous nose;HP:0001671|Abnormality of the cardiac septa
cerebellar ataxia-hypogonadism syndrome	HP:0000044|Hypogonadotrophic hypogonadism;HP:0000639|Nystagmus;HP:0000708|Behavioral abnormality;HP:0000135|Hypogonadism;HP:0000771|Gynecomastia;HP:0000864|Abnormality of the hypothalamus-pituitary axis;HP:0001251|Ataxia;HP:0004374|Hemiplegia/hemiparesis;HP:0002558|Supernumerary nipple;HP:0004322|Short stature;HP:0002167|Neurological speech impairment;HP:0000248|Brachycephaly;HP:0000726|Dementia;HP:0000648|Optic atrophy;HP:0001252|Muscular hypotonia;HP:0004209|Clinodactyly of the 5th finger;HP:0007703|Abnormality of retinal pigmentation;HP:0000144|Decreased fertility;HP:0000751|Personality changes;HP:0000512|Abnormal electroretinogram
intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0001263|Global developmental delay;HP:0002265|Large fleshy ears;HP:0010864|Intellectual disability, severe;HP:0007052|Multifocal cerebral white matter abnormalities;HP:0002079|Hypoplasia of the corpus callosum;HP:0000851|Congenital hypothyroidism;HP:0000248|Brachycephaly;HP:0001321|Cerebellar hypoplasia;HP:0000316|Hypertelorism;HP:0002120|Cerebral cortical atrophy;HP:0002714|Downturned corners of mouth;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0007642|Congenital stationary night blindness;HP:0000252|Microcephaly;HP:0001182|Tapered finger;HP:0000664|Synophrys;HP:0001999|Abnormal facial shape;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0000311|Round face;HP:0012443|Abnormality of brain morphology;HP:0000341|Narrow forehead;HP:0001513|Obesity;HP:0000219|Thin upper lip vermilion;HP:0011228|Horizontal eyebrow;HP:0009891|Underdeveloped supraorbital ridges;HP:0000377|Abnormality of the pinna;HP:0001252|Muscular hypotonia;HP:0002123|Generalized myoclonic seizures;HP:0002047|Malignant hyperthermia
spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0000639|Nystagmus;HP:0003184|Decreased hip abduction;HP:0006487|Bowing of the long bones;HP:0000545|Myopia;HP:0000572|Visual loss;HP:0007994|Peripheral visual field loss;HP:0002996|Limited elbow movement;HP:0003307|Hyperlordosis;HP:0008499|High-grade hypermetropia;HP:0007730|Iris hypopigmentation;HP:0001129|Large central visual field defect;HP:0004279|Short palm;HP:0000772|Abnormality of the ribs;HP:0000548|Cone-rod dystrophy;HP:0001510|Growth delay;HP:0002657|Spondylometaphyseal dysplasia;HP:0002650|Scoliosis;HP:0000551|Abnormality of color vision;HP:0000483|Astigmatism;HP:0000926|Platyspondyly;HP:0003510|Severe short stature;HP:0000613|Photophobia;HP:0003021|Metaphyseal cupping;HP:0008905|Rhizomelia;HP:0000662|Nyctalopia
x-linked epilepsy-learning disabilities-behavior disorders syndrome	HP:0000256|Macrocephaly;HP:0001328|Specific learning disability;HP:0001250|Seizures;HP:0000718|Aggressive behavior
x-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0001310|Dysmetria;HP:0002119|Ventriculomegaly;HP:0000288|Abnormality of the philtrum;HP:0001321|Cerebellar hypoplasia;HP:0006951|Retrocerebellar cyst;HP:0000490|Deeply set eye;HP:0001251|Ataxia;HP:0002007|Frontal bossing;HP:0007065|Disorganization of the anterior cerebellar vermis;HP:0000276|Long face;HP:0000486|Strabismus;HP:0002167|Neurological speech impairment;HP:0002120|Cerebral cortical atrophy;HP:0001250|Seizures;HP:0001999|Abnormal facial shape;HP:0007018|Attention deficit hyperactivity disorder;HP:0001249|Intellectual disability;HP:0000717|Autism;HP:0000400|Macrotia;HP:0001252|Muscular hypotonia;HP:0011220|Prominent forehead
sudden infant death-dysgenesis of the testes syndrome	HP:0002020|Gastroesophageal reflux;HP:0000028|Cryptorchidism;HP:0002459|Dysautonomia;HP:0002045|Hypothermia;HP:0001336|Myoclonus;HP:0001608|Abnormality of the voice;HP:0011675|Arrhythmia;HP:0001695|Cardiac arrest;HP:0010535|Sleep apnea;HP:0000046|Scrotal hypoplasia;HP:0001522|Death in infancy;HP:0008736|Hypoplasia of penis;HP:0001265|Hyporeflexia;HP:0000062|Ambiguous genitalia;HP:0002793|Abnormal pattern of respiration;HP:0000602|Ophthalmoplegia;HP:0001510|Growth delay
junctional epidermolysis bullosa-pyloric atresia syndrome	HP:0000075|Renal duplication;HP:0011100|Intestinal atresia;HP:0003270|Abdominal distention;HP:0000110|Renal dysplasia;HP:0004399|Congenital pyloric atresia;HP:0006297|Hypoplasia of dental enamel;HP:0008404|Nail dystrophy;HP:0100577|Urinary bladder inflammation;HP:0000656|Ectropion;HP:0000126|Hydronephrosis;HP:0200097|Oral mucosal blisters;HP:0012227|Urethral stricture;HP:0001059|Pterygium;HP:0002017|Nausea and vomiting;HP:0001057|Aplasia cutis congenita;HP:0010477|Aplasia of the bladder;HP:0000790|Hematuria;HP:0000070|Ureterocele;HP:0008066|Abnormal blistering of the skin;HP:0001581|Recurrent skin infections;HP:0001561|Polyhydramnios
foveal hypoplasia-presenile cataract syndrome	HP:0000639|Nystagmus;HP:0000504|Abnormality of vision;HP:0000518|Cataract;HP:0000486|Strabismus;HP:0000648|Optic atrophy;HP:0007440|Generalized hyperpigmentation;HP:0000478|Abnormality of the eye
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	HP:0000815|Hypergonadotropic hypogonadism;HP:0000826|Precocious puberty;HP:0000147|Polycystic ovaries;HP:0001644|Dilated cardiomyopathy;HP:0100362|Aplasia of the phalanges of the 3rd toe;HP:0000431|Wide nasal bridge;HP:0000508|Ptosis
early-onset parkinsonism-intellectual disability syndrome	HP:0001250|Seizures;HP:0000256|Macrocephaly;HP:0002007|Frontal bossing;HP:0000486|Strabismus;HP:0002167|Neurological speech impairment;HP:0002063|Rigidity;HP:0100022|Abnormality of movement;HP:0002396|Cogwheel rigidity;HP:0001249|Intellectual disability
brachydactyly-elbow wrist dysplasia syndrome	HP:0009832|Abnormality of the distal phalanx of finger;HP:0006501|Aplasia/Hypoplasia of the radius;HP:0000256|Macrocephaly;HP:0003063|Abnormality of the humerus;HP:0005048|Synostosis of carpal bones;HP:0001387|Joint stiffness;HP:0003042|Elbow dislocation;HP:0002997|Abnormality of the ulna;HP:0001231|Abnormality of the fingernails;HP:0004209|Clinodactyly of the 5th finger;HP:0001156|Brachydactyly syndrome
pyogenic arthritis-pyoderma gangrenosum-acne syndrome	HP:0200039|Pustule;HP:0002829|Arthralgia;HP:0001061|Acne;HP:0002716|Lymphadenopathy;HP:0100280|Crohn's disease;HP:0001369|Arthritis;HP:0012378|Fatigue;HP:0200042|Skin ulcer;HP:0001945|Fever;HP:0001376|Limitation of joint mobility;HP:0000093|Proteinuria;HP:0010702|Increased antibody level in blood;HP:0100614|Myositis;HP:0012649|Increased inflammatory response;HP:0100651|Type I diabetes mellitus
intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0001357|Plagiocephaly;HP:0011800|Midface retrusion;HP:0000518|Cataract;HP:0004322|Short stature;HP:0003198|Myopathy;HP:0002376|Developmental regression;HP:0002868|Narrow iliac wings;HP:0005121|Posterior scalloping of vertebral bodies;HP:0000767|Pectus excavatum;HP:0002797|Osteolysis;HP:0000135|Hypogonadism;HP:0003301|Irregular vertebral endplates;HP:0001371|Flexion contracture;HP:0001798|Anonychia;HP:0000774|Narrow chest;HP:0001903|Anemia;HP:0000494|Downslanted palpebral fissures;HP:0001250|Seizures;HP:0000771|Gynecomastia;HP:0003312|Abnormal form of the vertebral bodies;HP:0001288|Gait disturbance;HP:0008689|Bilateral cryptorchidism;HP:0002650|Scoliosis;HP:0000664|Synophrys;HP:0002808|Kyphosis;HP:0005103|Calcification of the auricular cartilage;HP:0000405|Conductive hearing impairment;HP:0001249|Intellectual disability;HP:0012062|Bone cyst;HP:0000400|Macrotia;HP:0000174|Abnormality of the palate;HP:0000238|Hydrocephalus;HP:0003273|Hip contracture
corneal dystrophy-perceptive deafness syndrome	HP:0000407|Sensorineural hearing impairment;HP:0000639|Nystagmus;HP:0000505|Visual impairment;HP:0007957|Corneal opacity;HP:0001131|Corneal dystrophy
ataxia-hypogonadism-choroidal dystrophy syndrome	HP:0000044|Hypogonadotrophic hypogonadism;HP:0007920|Congenital chorioretinal dystrophy;HP:0001251|Ataxia
severe achondroplasia-developmental delay-acanthosis nigricans syndrome	HP:0000889|Abnormality of the clavicle;HP:0010864|Intellectual disability, severe;HP:0012444|Brain atrophy;HP:0002079|Hypoplasia of the corpus callosum;HP:0012081|Enlarged cerebellum;HP:0002980|Femoral bowing;HP:0000252|Microcephaly;HP:0005871|Metaphyseal chondrodysplasia;HP:0011344|Severe global developmental delay;HP:0000956|Acanthosis nigricans;HP:0009118|Aplasia/Hypoplasia of the mandible;HP:0010502|Fibular bowing;HP:0002982|Tibial bowing;HP:0002197|Generalized seizures
spastic paraplegia-paget disease of bone syndrome	HP:0001288|Gait disturbance;HP:0001258|Spastic paraplegia;HP:0007289|Limb fasciculations;HP:0002064|Spastic gait;HP:0003445|EMG: neuropathic changes;HP:0003155|Elevated alkaline phosphatase;HP:0002395|Lower limb hyperreflexia;HP:0003324|Generalized muscle weakness;HP:0001308|Tongue fasciculations;HP:0003487|Babinski sign
cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0000028|Cryptorchidism;HP:0000160|Narrow mouth;HP:0000262|Turricephaly;HP:0000520|Proptosis;HP:0011800|Midface retrusion;HP:0000453|Choanal atresia;HP:0001482|Subcutaneous nodule;HP:0004450|Preauricular skin furrow;HP:0000929|Abnormality of the skull;HP:0005280|Depressed nasal bridge;HP:0002098|Respiratory distress;HP:0000508|Ptosis;HP:0003246|Prominent scrotal raphe;HP:0001545|Anteriorly placed anus;HP:0002676|Cloverleaf skull;HP:0001537|Umbilical hernia;HP:0000316|Hypertelorism;HP:0000822|Hypertension;HP:0009906|Aplasia/Hypoplasia of the earlobes;HP:0000982|Palmoplantar keratoderma;HP:0000048|Bifid scrotum;HP:0000271|Abnormality of the face;HP:0000494|Downslanted palpebral fissures;HP:0000478|Abnormality of the eye;HP:0000175|Cleft palate;HP:0000956|Acanthosis nigricans;HP:0007469|Palmoplantar cutis gyrata;HP:0100761|Visceral angiomatosis;HP:0000272|Malar flattening;HP:0000648|Optic atrophy;HP:0000268|Dolichocephaly;HP:0000995|Melanocytic nevus;HP:0001597|Abnormality of the nail;HP:0001363|Craniosynostosis;HP:0000504|Abnormality of vision;HP:0000364|Hearing abnormality;HP:0000463|Anteverted nares;HP:0000400|Macrotia;HP:0001732|Abnormality of the pancreas;HP:0009804|Reduced number of teeth;HP:0000189|Narrow palate;HP:0000238|Hydrocephalus;HP:0000391|Thickened helices;HP:0010669|Cheekbone underdevelopment
congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0000044|Hypogonadotrophic hypogonadism;HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0010620|Malar prominence;HP:0001310|Dysmetria;HP:0000568|Microphthalmia;HP:0000518|Cataract;HP:0004322|Short stature;HP:0007256|Abnormal pyramidal signs;HP:0002119|Ventriculomegaly;HP:0000527|Long eyelashes;HP:0003401|Paresthesia;HP:0000347|Micrognathia;HP:0001251|Ataxia;HP:0000486|Strabismus;HP:0001943|Hypoglycemia;HP:0007002|Motor axonal neuropathy;HP:0002120|Cerebral cortical atrophy;HP:0001511|Intrauterine growth retardation;HP:0003319|Abnormality of the cervical spine;HP:0003134|Abnormality of peripheral nerve conduction;HP:0001256|Intellectual disability, mild;HP:0008942|Acute rhabdomyolysis;HP:0000763|Sensory neuropathy;HP:0002080|Intention tremor;HP:0002650|Scoliosis;HP:0000939|Osteoporosis;HP:0002808|Kyphosis;HP:0100490|Camptodactyly of finger;HP:0000482|Microcornea
developmental malformations-deafness-dystonia syndrome	HP:0000202|Oral cleft;HP:0001263|Global developmental delay;HP:0002571|Achalasia;HP:0000618|Blindness;HP:0002721|Immunodeficiency;HP:0000348|High forehead;HP:0000518|Cataract;HP:0002983|Micromelia;HP:0002015|Dysphagia;HP:0001268|Mental deterioration;HP:0002650|Scoliosis;HP:0004322|Short stature;HP:0000316|Hypertelorism;HP:0000158|Macroglossia;HP:0007325|Generalized dystonia;HP:0002808|Kyphosis;HP:0008796|Externally rotated hips;HP:0000407|Sensorineural hearing impairment;HP:0100613|Death in early adulthood;HP:0000882|Hypoplastic scapulae;HP:0001249|Intellectual disability
hypodontia-dysplasia of nails syndrome	HP:0001231|Abnormality of the fingernails;HP:0000232|Everted lower lip vermilion;HP:0001597|Abnormality of the nail;HP:0001800|Hypoplastic toenails;HP:0012746|Thin toenail;HP:0001808|Fragile nails;HP:0000698|Conical tooth;HP:0006482|Abnormality of dental morphology;HP:0002213|Fine hair;HP:0000668|Hypodontia;HP:0006349|Agenesis of permanent teeth;HP:0000164|Abnormality of the teeth;HP:0000684|Delayed eruption of teeth;HP:0001804|Hypoplastic fingernail;HP:0000147|Polycystic ovaries;HP:0008402|Ridged fingernail
hemoglobin c-beta-thalassemia syndrome	HP:0011902|Abnormal hemoglobin;HP:0001744|Splenomegaly;HP:0001903|Anemia;HP:0001935|Microcytic anemia
tibial aplasia-ectrodactyly syndrome	HP:0005772|Aplasia/Hypoplasia of the tibia;HP:0001171|Split hand;HP:0001177|Preaxial hand polydactyly;HP:0006101|Finger syndactyly;HP:0002980|Femoral bowing;HP:0002991|Abnormality of the fibula;HP:0001539|Omphalocele;HP:0003097|Short femur;HP:0001162|Postaxial hand polydactyly;HP:0100257|Ectrodactyly;HP:0003038|Fibular hypoplasia;HP:0002823|Abnormality of the femur;HP:0001376|Limitation of joint mobility;HP:0006443|Patellar aplasia;HP:0006495|Aplasia/Hypoplasia of the ulna;HP:0009756|Popliteal pterygium;HP:0000396|Overfolded helix;HP:0001156|Brachydactyly syndrome
corpus callosum agenesis-neuronopathy syndrome	HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0001250|Seizures;HP:0000262|Turricephaly;HP:0001274|Agenesis of corpus callosum;HP:0001363|Craniosynostosis;HP:0002353|EEG abnormality;HP:0000486|Strabismus;HP:0000545|Myopia;HP:0000252|Microcephaly;HP:0002410|Aqueductal stenosis;HP:0004374|Hemiplegia/hemiparesis;HP:0007703|Abnormality of retinal pigmentation;HP:0001249|Intellectual disability
hypomyelination neuropathy-arthrogryposis syndrome	HP:0001376|Limitation of joint mobility;HP:0002098|Respiratory distress;HP:0003457|EMG abnormality;HP:0001252|Muscular hypotonia;HP:0001315|Reduced tendon reflexes
palmoplantar keratoderma-xx sex reversal-predisposition to squamous cell carcinoma syndrome	HP:0006739|Squamous cell carcinoma of the skin;HP:0000982|Palmoplantar keratoderma;HP:0012245|Sex reversal
overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0030680|Abnormality of cardiovascular system morphology;HP:0000365|Hearing impairment;HP:0000267|Cranial asymmetry;HP:0001520|Large for gestational age;HP:0000766|Abnormality of the sternum;HP:0000337|Broad forehead;HP:0000455|Broad nasal tip;HP:0008058|Aplasia/Hypoplasia of the optic nerve;HP:0000098|Tall stature;HP:0002564|Malformation of the heart and great vessels;HP:0000486|Strabismus;HP:0000343|Long philtrum;HP:0012741|Unilateral cryptorchidism;HP:0001548|Overgrowth;HP:0001642|Pulmonic stenosis;HP:0000494|Downslanted palpebral fissures;HP:0001256|Intellectual disability, mild;HP:0000729|Autistic behavior;HP:0000256|Macrocephaly;HP:0001641|Abnormality of the pulmonary valve;HP:0001999|Abnormal facial shape;HP:0005616|Accelerated skeletal maturation;HP:0000609|Optic nerve hypoplasia;HP:0011098|Speech apraxia;HP:0000179|Thick lower lip vermilion;HP:0000219|Thin upper lip vermilion;HP:0000768|Pectus carinatum
segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	HP:0001635|Congestive heart failure;HP:0100026|Arteriovenous malformation;HP:0007392|Excessive wrinkled skin;HP:0001883|Talipes;HP:0100031|Neoplasm of the thyroid gland;HP:0000256|Macrocephaly;HP:0010566|Hamartoma;HP:0100013|Neoplasm of the breast;HP:0002757|Recurrent fractures;HP:0005293|Venous insufficiency;HP:0100761|Visceral angiomatosis;HP:0001482|Subcutaneous nodule;HP:0200034|Papule;HP:0100559|Lower limb asymmetry;HP:0004349|Reduced bone mineral density;HP:0004374|Hemiplegia/hemiparesis;HP:0100560|Upper limb asymmetry;HP:0100764|Lymphangioma;HP:0100615|Ovarian neoplasm
chondrodysplasia-disorder of sex development syndrome	HP:0000037|Male pseudohermaphroditism;HP:0003043|Abnormality of the shoulder;HP:0000616|Miosis;HP:0000581|Blepharophimosis;HP:0007676|Hypoplasia of the iris;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0000490|Deeply set eye;HP:0000506|Telecanthus;HP:0000486|Strabismus;HP:0000774|Narrow chest;HP:0001511|Intrauterine growth retardation;HP:0010049|Short metacarpal;HP:0001322|Brain very small;HP:0005622|Broad long bones;HP:0000252|Microcephaly;HP:0009803|Short phalanx of finger;HP:0004330|Increased skull ossification;HP:0001249|Intellectual disability;HP:0000567|Chorioretinal coloboma;HP:0003510|Severe short stature;HP:0000400|Macrotia;HP:0002983|Micromelia
glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome	HP:0000501|Glaucoma;HP:0004322|Short stature;HP:0001083|Ectopia lentis
beta-thalassemia-x-linked thrombocytopenia syndrome	HP:0001892|Abnormal bleeding;HP:0001744|Splenomegaly;HP:0001873|Thrombocytopenia;HP:0011902|Abnormal hemoglobin;HP:0001903|Anemia;HP:0011869|Abnormal platelet function
radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	HP:0002974|Radioulnar synostosis;HP:0001385|Hip dysplasia;HP:0006101|Finger syndactyly;HP:0004859|Amegakaryocytic thrombocytopenia;HP:0000407|Sensorineural hearing impairment;HP:0004209|Clinodactyly of the 5th finger
fibular aplasia-complex brachydactyly syndrome	HP:0007598|Bilateral single transverse palmar creases;HP:0006492|Aplasia/Hypoplasia of the fibula;HP:0002997|Abnormality of the ulna;HP:0005048|Synostosis of carpal bones;HP:0008368|Tarsal synostosis;HP:0002818|Abnormality of the radius;HP:0004322|Short stature;HP:0003272|Abnormality of the hip bone;HP:0001172|Abnormality of the thumb;HP:0002992|Abnormality of the tibia;HP:0005930|Abnormality of epiphysis morphology;HP:0000446|Narrow nasal bridge;HP:0001376|Limitation of joint mobility;HP:0002983|Micromelia;HP:0001156|Brachydactyly syndrome
congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0000639|Nystagmus;HP:0000518|Cataract;HP:0003128|Lactic acidosis;HP:0000486|Strabismus;HP:0000545|Myopia;HP:0001131|Corneal dystrophy;HP:0003198|Myopathy;HP:0001639|Hypertrophic cardiomyopathy;HP:0000501|Glaucoma;HP:0000512|Abnormal electroretinogram
crouzon syndrome-acanthosis nigricans syndrome	HP:0000262|Turricephaly;HP:0000520|Proptosis;HP:0000453|Choanal atresia;HP:0000248|Brachycephaly;HP:0000238|Hydrocephalus;HP:0000508|Ptosis;HP:0001156|Brachydactyly syndrome;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0002007|Frontal bossing;HP:0100533|Inflammatory abnormality of the eye;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0002516|Increased intracranial pressure;HP:0002308|Arnold-Chiari malformation;HP:0003312|Abnormal form of the vertebral bodies;HP:0005107|Abnormality of the sacrum;HP:0002093|Respiratory insufficiency;HP:0000327|Hypoplasia of the maxilla;HP:0001163|Abnormality of the metacarpal bones;HP:0000272|Malar flattening;HP:0000648|Optic atrophy;HP:0002076|Migraine;HP:0000405|Conductive hearing impairment;HP:0000505|Visual impairment;HP:0000348|High forehead;HP:0000444|Convex nasal ridge;HP:0000174|Abnormality of the palate;HP:0000956|Acanthosis nigricans
pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa	HP:0001098|Abnormality of the fundus;HP:0001582|Redundant skin;HP:0000973|Cutis laxa;HP:0007980|Absent retinal pigment epithelium;HP:0000486|Strabismus;HP:0000510|Rod-cone dystrophy;HP:0200034|Papule;HP:0000587|Abnormality of the optic nerve;HP:0007843|Attenuation of retinal blood vessels;HP:0007522|Increased number of skin folds;HP:0000662|Nyctalopia
arthrogryposis due to muscular dystrophy	HP:0001883|Talipes;HP:0001387|Joint stiffness;HP:0002650|Scoliosis;HP:0003457|EMG abnormality;HP:0003272|Abnormality of the hip bone;HP:0002808|Kyphosis;HP:0003198|Myopathy;HP:0001639|Hypertrophic cardiomyopathy;HP:0001252|Muscular hypotonia;HP:0001315|Reduced tendon reflexes;HP:0002486|Myotonia;HP:0000508|Ptosis;HP:0005988|Congenital muscular torticollis;HP:0000083|Renal insufficiency
oculocerebral hypopigmentation syndrome, cross type	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0000160|Narrow mouth;HP:0002305|Athetosis;HP:0000518|Cataract;HP:0000071|Ureteral stenosis;HP:0003196|Short nose;HP:0004322|Short stature;HP:0000545|Myopia;HP:0007256|Abnormal pyramidal signs;HP:0001166|Arachnodactyly;HP:0005280|Depressed nasal bridge;HP:0001376|Limitation of joint mobility;HP:0000963|Thin skin;HP:0001257|Spasticity;HP:0000079|Abnormality of the urinary system;HP:0001251|Ataxia;HP:0007730|Iris hypopigmentation;HP:0001172|Abnormality of the thumb;HP:0008056|Aplasia/Hypoplasia affecting the eye;HP:0000407|Sensorineural hearing impairment;HP:0001903|Anemia;HP:0001510|Growth delay;HP:0000478|Abnormality of the eye;HP:0002353|EEG abnormality;HP:0002071|Abnormality of extrapyramidal motor function;HP:0007957|Corneal opacity;HP:0000656|Ectropion;HP:0001107|Ocular albinism;HP:0005599|Hypopigmentation of hair;HP:0001608|Abnormality of the voice;HP:0000252|Microcephaly;HP:0100022|Abnormality of movement;HP:0000268|Dolichocephaly;HP:0001139|Choroideremia;HP:0000023|Inguinal hernia;HP:0001305|Dandy-Walker malformation;HP:0001249|Intellectual disability;HP:0002510|Spastic tetraplegia;HP:0000691|Microdontia;HP:0000504|Abnormality of vision;HP:0005561|Abnormality of bone marrow cell morphology;HP:0001347|Hyperreflexia;HP:0000463|Anteverted nares;HP:0000174|Abnormality of the palate
stiff person syndrome and related disorders	HP:0002938|Lumbar hyperlordosis;HP:0000756|Agoraphobia;HP:0000975|Hyperhidrosis;HP:0000707|Abnormality of the nervous system;HP:0003457|EMG abnormality;HP:0002063|Rigidity;HP:0000819|Diabetes mellitus;HP:0002527|Falls;HP:0002267|Exaggerated startle response;HP:0002355|Difficulty walking;HP:0011964|Intermittent painful muscle spasms;HP:0000712|Emotional lability;HP:0012894|Paraspinal muscle hypertrophy;HP:0030057|Autoimmune antibody positivity;HP:0000739|Anxiety;HP:0000821|Hypothyroidism
hidrotic ectodermal dysplasia, christianson-fourie type	HP:0001597|Abnormality of the nail;HP:0008404|Nail dystrophy;HP:0008401|Onychogryposis of toenails;HP:0002215|Sparse axillary hair;HP:0002209|Sparse scalp hair;HP:0011675|Arrhythmia;HP:0002223|Absent eyebrow;HP:0002225|Sparse pubic hair;HP:0001595|Abnormality of the hair;HP:0000653|Sparse eyelashes
aapoaiv amyloidosis	HP:0100518|Dysuria;HP:0000096|Glomerulosclerosis;HP:0004367|Abnormality of glycoprotein metabolism;HP:0000092|Tubular atrophy;HP:0005576|Tubulointerstitial fibrosis;HP:0003259|Elevated serum creatinine;HP:0012213|Decreased glomerular filtration rate;HP:0012622|Chronic kidney disease;HP:0012625|Stage 3 chronic kidney disease
bonnemann-meinecke-reich syndrome	HP:0001256|Intellectual disability, mild;HP:0002353|EEG abnormality;HP:0001257|Spasticity;HP:0000347|Micrognathia;HP:0000505|Visual impairment;HP:0004322|Short stature;HP:0000252|Microcephaly;HP:0002119|Ventriculomegaly;HP:0002514|Cerebral calcification;HP:0000824|Growth hormone deficiency;HP:0000268|Dolichocephaly
velo-facial-skeletal syndrome	HP:0002705|High, narrow palate;HP:0000286|Epicanthus;HP:0000324|Facial asymmetry;HP:0000506|Telecanthus;HP:0002750|Delayed skeletal maturation;HP:0000276|Long face;HP:0000275|Narrow face;HP:0004322|Short stature;HP:0000316|Hypertelorism;HP:0001172|Abnormality of the thumb;HP:0001176|Large hands;HP:0000164|Abnormality of the teeth;HP:0000474|Thickened nuchal skin fold;HP:0001622|Premature birth;HP:0004279|Short palm;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0001212|Prominent fingertip pads
ectodermal dysplasia-sensorineural deafness syndrome	HP:0000670|Carious teeth;HP:0000962|Hyperkeratosis;HP:0007529|Hidrotic ectodermal dysplasia;HP:0009183|Joint contracture of the 5th finger;HP:0004322|Short stature;HP:0002650|Scoliosis;HP:0100543|Cognitive impairment;HP:0001166|Arachnodactyly;HP:0100490|Camptodactyly of finger;HP:0002808|Kyphosis;HP:0008070|Sparse hair;HP:0002299|Brittle hair;HP:0000407|Sensorineural hearing impairment;HP:0002208|Coarse hair
eng-strom syndrome	HP:0001369|Arthritis;HP:0004322|Short stature;HP:0001629|Ventricular septal defect;HP:0002650|Scoliosis;HP:0100490|Camptodactyly of finger;HP:0001511|Intrauterine growth retardation;HP:0000767|Pectus excavatum;HP:0001671|Abnormality of the cardiac septa;HP:0001156|Brachydactyly syndrome
hereditary palmoplantar keratoderma, gamborg-nielsen type	HP:0007435|Diffuse palmoplantar keratoderma;HP:0007390|Hyperkeratosis with erythema
xp22.3 microdeletion syndrome	HP:0000044|Hypogonadotrophic hypogonadism;HP:0002916|Abnormality of chromosome segregation;HP:0004322|Short stature;HP:0000545|Myopia;HP:0000960|Sacral dimple;HP:0008056|Aplasia/Hypoplasia affecting the eye;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0000147|Polycystic ovaries;HP:0000144|Decreased fertility;HP:0007759|Opacification of the corneal stroma;HP:0004397|Ectopic anus;HP:0000869|Secondary amenorrhea
familial infantile gigantism	HP:0100829|Galactorrhea;HP:0012411|Premature pubarche;HP:0005978|Type II diabetes mellitus;HP:0000098|Tall stature;HP:0000975|Hyperhidrosis;HP:0000141|Amenorrhea;HP:0000870|Prolactin excess;HP:0000303|Mandibular prognathia;HP:0001833|Long foot;HP:0001712|Left ventricular hypertrophy;HP:0001953|Diabetic ketoacidosis;HP:0002007|Frontal bossing;HP:0011760|Pituitary growth hormone cell adenoma;HP:0011407|Proportionate tall stature;HP:0030269|Increased serum Insulin-like growth factor 1;HP:0000845|Growth hormone excess;HP:0000280|Coarse facial features;HP:0001176|Large hands;HP:0001639|Hypertrophic cardiomyopathy;HP:0005616|Accelerated skeletal maturation
46,xy gonadal dysgenesis-motor and sensory neuropathy syndrome	HP:0000786|Primary amenorrhea;HP:0001271|Polyneuropathy;HP:0003130|Abnormal peripheral myelination;HP:0040171|Decreased serum testosterone level;HP:0000150|Gonadoblastoma;HP:0010464|Streak ovary;HP:0000837|Increased circulating gonadotropin level;HP:0001315|Reduced tendon reflexes;HP:0008715|Testicular dysgenesis;HP:0003134|Abnormality of peripheral nerve conduction;HP:0000013|Hypoplasia of the uterus;HP:0003376|Steppage gait;HP:0000026|Male hypogonadism;HP:0045010|Abnormality of peripheral nerves;HP:0000133|Gonadal dysgenesis;HP:0001761|Pes cavus;HP:0008723|Gonadal dysgenesis with female appearance, male;HP:0007141|Sensorimotor neuropathy;HP:0000142|Abnormality of the vagina;HP:0000789|Infertility;HP:0006984|Distal sensory loss of all modalities;HP:0002460|Distal muscle weakness;HP:0008214|Decreased serum estradiol;HP:0003434|Sensory ataxic neuropathy;HP:0000055|Abnormality of female external genitalia;HP:0003202|Skeletal muscle atrophy
ring chromosome y	HP:0000028|Cryptorchidism;HP:0000033|Ambiguous genitalia, male;HP:0004322|Short stature;HP:0000027|Azoospermia;HP:0008222|Female infertility;HP:0000150|Gonadoblastoma;HP:0000047|Hypospadias;HP:0000051|Perineal hypospadias;HP:0010464|Streak ovary;HP:0012741|Unilateral cryptorchidism;HP:0000062|Ambiguous genitalia;HP:0000048|Bifid scrotum;HP:0000771|Gynecomastia;HP:0000026|Male hypogonadism;HP:0010461|Abnormality of the male genitalia;HP:0000061|Ambiguous genitalia, female;HP:0003251|Male infertility;HP:0000133|Gonadal dysgenesis;HP:0001513|Obesity;HP:0010460|Abnormality of the female genitalia;HP:0100779|Urogenital sinus anomaly;HP:0008669|Abnormal spermatogenesis
omphalocele syndrome, shprintzen-goldberg type	HP:0002020|Gastroesophageal reflux;HP:0001263|Global developmental delay;HP:0008749|Laryngeal hypoplasia;HP:0000506|Telecanthus;HP:0000219|Thin upper lip vermilion;HP:0002023|Anal atresia;HP:0005956|Anteroposteriorly shortened larynx;HP:0008872|Feeding difficulties in infancy;HP:0002650|Scoliosis;HP:0000465|Webbed neck;HP:0001539|Omphalocele;HP:0000499|Abnormality of the eyelashes;HP:0001620|High pitched voice;HP:0002028|Chronic diarrhea;HP:0009555|Hypoplasia of the pharynx;HP:0001252|Muscular hypotonia;HP:0005338|Sparse lateral eyebrow;HP:0002714|Downturned corners of mouth;HP:0002000|Short columella;HP:0002643|Neonatal respiratory distress;HP:0000494|Downslanted palpebral fissures
fetal left ventricular aneurysm	HP:0002564|Malformation of the heart and great vessels
encephalopathy with intracranial calcification, growth hormone deficiency,microcephaly, and retinal degeneration	HP:0001257|Spasticity;HP:0001298|Encephalopathy;HP:0001251|Ataxia;HP:0002514|Intracranial calcifications;HP:0001363|Early fusion of cranial sutures;HP:0001256|Mild mental retardation;HP:0003510|Proportionate dwarfism;HP:0000824|Growth hormone deficiency;HP:0000546|Retinal degeneration;HP:0002119|Ventricular dilatation
emery-nelson syndrome	HP:0001319|Neonatal hypotonia;HP:0002162|Low posterior hairline;HP:0012368|Flat face;HP:0000348|High forehead;HP:0009626|Contractures of the interphalangeal joint of the thumb;HP:0000343|Long philtrum;HP:0001172|Abnormality of the thumb;HP:0100490|Camptodactyly of finger;HP:0000218|High palate;HP:0005280|Depressed nasal bridge;HP:0006070|Metacarpophalangeal joint contracture;HP:0001156|Brachydactyly syndrome
genochondromatosis type 1	HP:0005701|Multiple enchondromatosis;HP:0000889|Abnormality of the clavicle;HP:0002815|Abnormality of the knee
x-linked intellectual disability, armfield type	HP:0400004|Long ear;HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0010864|Intellectual disability, severe;HP:0011800|Midface retrusion;HP:0000518|Cataract;HP:0004322|Short stature;HP:0000248|Brachycephaly;HP:0005280|Depressed nasal bridge;HP:0001992|Organic aciduria;HP:0000337|Broad forehead;HP:0007413|Nevus flammeus of the forehead;HP:0000347|Micrognathia;HP:0000154|Wide mouth;HP:0000303|Mandibular prognathia;HP:0002342|Intellectual disability, moderate;HP:0000486|Strabismus;HP:0001643|Patent ductus arteriosus;HP:0012023|Galactosuria;HP:0002120|Cerebral cortical atrophy;HP:0001377|Limited elbow extension;HP:0002714|Downturned corners of mouth;HP:0005306|Capillary hemangiomas;HP:0001773|Short foot;HP:0000494|Downslanted palpebral fissures;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0000256|Macrocephaly;HP:0003355|Aminoaciduria;HP:0000023|Inguinal hernia;HP:0009811|Abnormality of the elbow;HP:0200055|Small hand;HP:0000322|Short philtrum;HP:0000996|Facial capillary hemangioma;HP:0000400|Macrotia;HP:0000501|Glaucoma;HP:0001671|Abnormality of the cardiac septa
isolated dandy-walker malformation	HP:0001626|Abnormality of the cardiovascular system;HP:0002691|Platybasia;HP:0000175|Cleft palate;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0000269|Prominent occiput;HP:0002007|Frontal bossing;HP:0002084|Encephalocele;HP:0001636|Tetralogy of Fallot;HP:0001305|Dandy-Walker malformation
camptodactyly syndrome, guadalajara type 2	HP:0000066|Labial hypoplasia;HP:0005643|Short 3rd toe;HP:0004634|Cuboid-shaped vertebral bodies;HP:0004322|Short stature;HP:0001762|Talipes equinovarus;HP:0000252|Microcephaly;HP:0001885|Short 2nd toe;HP:0002827|Hip dislocation;HP:0100490|Camptodactyly of finger;HP:0003065|Patellar hypoplasia;HP:0011917|Short 5th toe;HP:0001511|Intrauterine growth retardation;HP:0000767|Pectus excavatum
hereditary painful callosities	HP:0012531|Pain;HP:0005588|Patchy palmoplantar keratoderma
8p inverted duplication/deletion syndrome	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0000470|Short neck;HP:0001274|Agenesis of corpus callosum;HP:0008947|Infantile muscular hypotonia;HP:0010864|Intellectual disability, severe;HP:0001651|Dextrocardia;HP:0005781|Contractures of the large joints;HP:0000826|Precocious puberty;HP:0000592|Blue sclerae;HP:0001321|Cerebellar hypoplasia;HP:0010487|Small hypothenar eminence;HP:0000232|Everted lower lip vermilion;HP:0000767|Pectus excavatum;HP:0000750|Delayed speech and language development;HP:0006292|Abnormality of dental eruption;HP:0007020|Progressive spastic paraplegia;HP:0000079|Abnormality of the urinary system;HP:0000347|Micrognathia;HP:0000154|Wide mouth;HP:0001627|Abnormal heart morphology;HP:0000126|Hydronephrosis;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0001636|Tetralogy of Fallot;HP:0011344|Severe global developmental delay;HP:0000384|Preauricular skin tag;HP:0001276|Hypertonia;HP:0000478|Abnormality of the eye;HP:0001256|Intellectual disability, mild;HP:0001250|Seizures;HP:0002916|Abnormality of chromosome segregation;HP:0000729|Autistic behavior;HP:0002650|Scoliosis;HP:0000664|Synophrys;HP:0001999|Abnormal facial shape;HP:0007018|Attention deficit hyperactivity disorder;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0000311|Round face;HP:0001305|Dandy-Walker malformation;HP:0001249|Intellectual disability;HP:0000278|Retrognathia;HP:0002510|Spastic tetraplegia;HP:0000717|Autism;HP:0002705|High, narrow palate;HP:0005656|Positional foot deformity;HP:0011220|Prominent forehead;HP:0100710|Impulsivity;HP:0000463|Anteverted nares;HP:0002292|Frontal balding;HP:0002827|Hip dislocation;HP:0000400|Macrotia;HP:0100807|Long fingers;HP:0011466|Aplasia/Hypoplasia of the gallbladder;HP:0000054|Micropenis
amaurosis-hypertrichosis syndrome	HP:0000639|Nystagmus;HP:0000556|Retinal dystrophy;HP:0007758|Congenital visual impairment;HP:0008499|High-grade hypermetropia;HP:0000613|Photophobia;HP:0000499|Abnormality of the eyelashes;HP:0000664|Synophrys;HP:0000574|Thick eyebrow;HP:0000648|Optic atrophy;HP:0000548|Cone-rod dystrophy;HP:0002208|Coarse hair
cono-spondylar dysplasia	HP:0011800|Midface retrusion;HP:0000470|Short neck;HP:0010864|Intellectual disability, severe;HP:0010230|Cone-shaped epiphyses of the phalanges of the hand;HP:0000943|Dysostosis multiplex;HP:0002370|Poor coordination;HP:0001156|Brachydactyly syndrome;HP:0000369|Low-set ears;HP:0002656|Epiphyseal dysplasia;HP:0000316|Hypertelorism;HP:0011344|Severe global developmental delay;HP:0001338|Partial agenesis of the corpus callosum;HP:0000924|Abnormality of the skeletal system;HP:0001250|Seizures;HP:0005792|Short humerus;HP:0002650|Scoliosis;HP:0012537|Food intolerance;HP:0001999|Abnormal facial shape;HP:0002808|Kyphosis;HP:0008093|Short 4th toe;HP:0001508|Failure to thrive;HP:0006385|Short lower limbs;HP:0000463|Anteverted nares;HP:0001799|Short nail;HP:0001252|Muscular hypotonia;HP:0001561|Polyhydramnios
x-linked charcot-marie-tooth disease type 2	HP:0001250|Seizures;HP:0002463|Language impairment;HP:0001251|Ataxia;HP:0001288|Gait disturbance;HP:0000763|Sensory neuropathy;HP:0001337|Tremor;HP:0002650|Scoliosis;HP:0007340|Lower limb muscle weakness;HP:0001284|Areflexia;HP:0009830|Peripheral neuropathy;HP:0040129|Abnormal nerve conduction velocity;HP:0002808|Kyphosis;HP:0007328|Impaired pain sensation;HP:0001262|Excessive daytime somnolence;HP:0001761|Pes cavus;HP:0007149|Distal upper limb amyotrophy
pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0001629|Ventricular septal defect;HP:0000851|Congenital hypothyroidism;HP:0001562|Oligohydramnios;HP:0000776|Congenital diaphragmatic hernia;HP:0011628|Congenital defect of the pericardium;HP:0002098|Respiratory distress;HP:0001631|Atrial septal defect;HP:0100801|Pancreatic aplasia;HP:0001655|Patent foramen ovale;HP:0003645|Prolonged partial thromboplastin time;HP:0005912|Biliary atresia;HP:0001537|Umbilical hernia;HP:0011573|Hypoplastic tricuspid valve;HP:0011581|Double outlet left ventricle;HP:0001643|Patent ductus arteriosus;HP:0001636|Tetralogy of Fallot;HP:0001511|Intrauterine growth retardation;HP:0011611|Interrupted aortic arch;HP:0001642|Pulmonic stenosis;HP:0011968|Feeding difficulties;HP:0001250|Seizures;HP:0002254|Intermittent diarrhea;HP:0000857|Neonatal insulin-dependent diabetes mellitus;HP:0001518|Small for gestational age;HP:0004415|Pulmonary artery stenosis;HP:0000891|Cervical ribs;HP:0001508|Failure to thrive;HP:0001249|Intellectual disability;HP:0001738|Exocrine pancreatic insufficiency;HP:0001319|Neonatal hypotonia;HP:0004762|Hypoplasia of right ventricle;HP:0001195|Single umbilical artery;HP:0001669|Transposition of the great arteries;HP:0002566|Intestinal malrotation;HP:0000073|Ureteral duplication;HP:0100790|Hernia;HP:0011466|Aplasia/Hypoplasia of the gallbladder;HP:0040196|Mild microcephaly;HP:0010626|Anterior pituitary agenesis;HP:0002594|Pancreatic hypoplasia
mesomelic dwarfism, nievergelt type	HP:0000248|Brachycephaly;HP:0010781|Skin dimples;HP:0100729|Large face;HP:0001376|Limitation of joint mobility;HP:0007598|Bilateral single transverse palmar creases;HP:0002970|Genu varum;HP:0006101|Finger syndactyly;HP:0008368|Tarsal synostosis;HP:0000486|Strabismus;HP:0003019|Abnormality of the wrist;HP:0000960|Sacral dimple;HP:0002650|Scoliosis;HP:0002991|Abnormality of the fibula;HP:0003042|Elbow dislocation;HP:0002992|Abnormality of the tibia;HP:0003027|Mesomelia;HP:0002857|Genu valgum;HP:0000268|Dolichocephaly;HP:0004209|Clinodactyly of the 5th finger;HP:0001249|Intellectual disability;HP:0002974|Radioulnar synostosis;HP:0006501|Aplasia/Hypoplasia of the radius;HP:0100490|Camptodactyly of finger;HP:0008845|Mesomelic short stature;HP:0002997|Abnormality of the ulna;HP:0002983|Micromelia
encephalopathy due to beta-mercaptolactate-cysteine disulfiduria	HP:0004322|Short stature;HP:0001166|Arachnodactyly;HP:0000218|High palate;HP:0001631|Atrial septal defect;HP:0002007|Frontal bossing;HP:0001537|Umbilical hernia;HP:0000486|Strabismus;HP:0005692|Joint hyperflexibility;HP:0001852|Sandal gap;HP:0000069|Abnormality of the ureter;HP:0000494|Downslanted palpebral fissures;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0100720|Hypoplasia of the ear cartilage;HP:0002857|Genu valgum;HP:0001249|Intellectual disability;HP:0001513|Obesity;HP:0000958|Dry skin;HP:0000348|High forehead;HP:0000463|Anteverted nares;HP:0000444|Convex nasal ridge;HP:0000368|Low-set, posteriorly rotated ears;HP:0001252|Muscular hypotonia;HP:0002983|Micromelia
spinocerebellar ataxia-dysmorphism syndrome	HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0000520|Proptosis;HP:0003196|Short nose;HP:0004322|Short stature;HP:0000974|Hyperextensible skin;HP:0000508|Ptosis;HP:0000337|Broad forehead;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0003298|Spina bifida occulta;HP:0005692|Joint hyperflexibility;HP:0002816|Genu recurvatum;HP:0002714|Downturned corners of mouth;HP:0002208|Coarse hair;HP:0012471|Thick vermilion border;HP:0000286|Epicanthus;HP:0000256|Macrocephaly;HP:0003457|EMG abnormality;HP:0000648|Optic atrophy;HP:0000268|Dolichocephaly;HP:0003100|Slender long bone;HP:0002967|Cubitus valgus;HP:0000463|Anteverted nares;HP:0000368|Low-set, posteriorly rotated ears;HP:0001252|Muscular hypotonia;HP:0004349|Reduced bone mineral density
wild type attr amyloidosis	HP:0004926|Orthostatic hypotension due to autonomic dysfunction;HP:0002202|Pleural effusion;HP:0002579|Gastrointestinal dysmotility;HP:0001824|Weight loss;HP:0001662|Bradycardia;HP:0000093|Proteinuria;HP:0000083|Renal insufficiency;HP:0001635|Congestive heart failure;HP:0003115|Abnormal EKG;HP:0003155|Elevated alkaline phosphatase;HP:0002028|Chronic diarrhea;HP:0000112|Nephropathy;HP:0002271|Autonomic dysregulation;HP:0001639|Hypertrophic cardiomyopathy;HP:0002254|Intermittent diarrhea;HP:0010741|Edema of the lower limbs;HP:0001658|Myocardial infarction;HP:0002607|Bowel incontinence;HP:0011675|Arrhythmia;HP:0002240|Hepatomegaly;HP:0006530|Interstitial pulmonary disease;HP:0000100|Nephrotic syndrome;HP:0100598|Pulmonary edema;HP:0005341|Autonomic bladder dysfunction
idiopathic localized lipodystrophy	HP:0010783|Erythema;HP:0003758|Reduced subcutaneous adipose tissue;HP:0040189|Scaling skin;HP:0007485|Absence of subcutaneous fat;HP:0012344|Morphea;HP:0001010|Hypopigmentation of the skin;HP:0000989|Pruritus;HP:0011123|Inflammatory abnormality of the skin;HP:0100578|Lipoatrophy;HP:0100324|Scleroderma;HP:0000953|Hyperpigmentation of the skin
alopecia-epilepsy-pyorrhea-intellectual disability syndrome	HP:0001256|Intellectual disability, mild;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0000230|Gingivitis;HP:0002289|Alopecia universalis;HP:0000704|Periodontitis;HP:0002209|Sparse scalp hair;HP:0000365|Hearing impairment;HP:0000499|Abnormality of the eyelashes;HP:0002354|Memory impairment;HP:0000164|Abnormality of the teeth;HP:0002231|Sparse body hair;HP:0000238|Hydrocephalus;HP:0000995|Melanocytic nevus
isochromosomy yp	HP:0000771|Gynecomastia;HP:0008193|Primary gonadal insufficiency;HP:0000027|Azoospermia;HP:0008734|Decreased testicular size;HP:0003251|Male infertility;HP:0000062|Ambiguous genitalia
lipodystrophy due to peptidic growth factors deficiency	HP:0002216|Premature graying of hair;HP:0000160|Narrow mouth;HP:0001824|Weight loss;HP:0001000|Abnormality of skin pigmentation;HP:0000767|Pectus excavatum;HP:0001371|Flexion contracture;HP:0000347|Micrognathia;HP:0003119|Abnormality of lipid metabolism;HP:0100578|Lipoatrophy;HP:0001002|Decreased subcutaneous fat;HP:0009125|Lipodystrophy;HP:0000982|Palmoplantar keratoderma;HP:0000271|Abnormality of the face;HP:0100651|Type I diabetes mellitus;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0002814|Abnormality of the lower limb;HP:0010980|Hyperlipoproteinemia;HP:0001595|Abnormality of the hair;HP:0004326|Cachexia;HP:0001387|Joint stiffness;HP:0000444|Convex nasal ridge;HP:0100679|Lack of skin elasticity;HP:0000765|Abnormality of the thorax;HP:0001072|Thickened skin;HP:0001763|Pes planus;HP:0002817|Abnormality of the upper limb;HP:0004349|Reduced bone mineral density;HP:0002621|Atherosclerosis
ataxia-deafness-intellectual disability syndrome	HP:0000639|Nystagmus;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0001251|Ataxia;HP:0000486|Strabismus;HP:0002167|Neurological speech impairment;HP:0002119|Ventriculomegaly;HP:0002650|Scoliosis;HP:0001315|Reduced tendon reflexes;HP:0003457|EMG abnormality;HP:0005692|Joint hyperflexibility;HP:0002120|Cerebral cortical atrophy;HP:0000174|Abnormality of the palate;HP:0001252|Muscular hypotonia;HP:0000407|Sensorineural hearing impairment;HP:0000762|Decreased nerve conduction velocity;HP:0003202|Skeletal muscle atrophy;HP:0001249|Intellectual disability
intellectual disability-seizures-macrocephaly-obesity syndrome	HP:0003186|Inverted nipples;HP:0001263|Global developmental delay;HP:0000160|Narrow mouth;HP:0002003|Large forehead;HP:0000577|Exotropia;HP:0001051|Seborrheic dermatitis;HP:0000646|Amblyopia;HP:0000805|Enuresis;HP:0002079|Hypoplasia of the corpus callosum;HP:0000722|Obsessive-compulsive behavior;HP:0000365|Hearing impairment;HP:0002019|Constipation;HP:0002046|Heat intolerance;HP:0001269|Hemiparesis;HP:0000358|Posteriorly rotated ears;HP:0012680|Abnormality of the pineal gland;HP:0001290|Generalized hypotonia;HP:0000508|Ptosis;HP:0000750|Delayed speech and language development;HP:0000347|Micrognathia;HP:0011246|Underdeveloped superior crus of antihelix;HP:0000486|Strabismus;HP:0006482|Abnormality of dental morphology;HP:0000316|Hypertelorism;HP:0000158|Macroglossia;HP:0000629|Periorbital fullness;HP:0000684|Delayed eruption of teeth;HP:0000574|Thick eyebrow;HP:0000718|Aggressive behavior;HP:0000494|Downslanted palpebral fissures;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0100703|Tongue thrusting;HP:0000256|Macrocephaly;HP:0000483|Astigmatism;HP:0001508|Failure to thrive;HP:0004209|Clinodactyly of the 5th finger;HP:0001760|Abnormality of the foot;HP:0000311|Round face;HP:0001249|Intellectual disability;HP:0002705|High, narrow palate;HP:0000179|Thick lower lip vermilion;HP:0001513|Obesity;HP:0001634|Mitral valve prolapse;HP:0000444|Convex nasal ridge;HP:0001763|Pes planus;HP:0000280|Coarse facial features;HP:0000964|Eczema;HP:0001716|Wolff-Parkinson-White syndrome;HP:0002136|Broad-based gait
hennekam-beemer syndrome	HP:0001025|Urticaria;HP:0000520|Proptosis;HP:0012733|Macule;HP:0002013|Vomiting;HP:0012378|Fatigue;HP:0004322|Short stature;HP:0002119|Ventriculomegaly;HP:0000336|Prominent supraorbital ridges;HP:0000365|Hearing impairment;HP:0001482|Subcutaneous nodule;HP:0001000|Abnormality of skin pigmentation;HP:0002027|Abdominal pain;HP:0003189|Long nose;HP:0000218|High palate;HP:0100585|Telangiectasia of the skin;HP:0000445|Wide nose;HP:0200037|Skin vesicle;HP:0010783|Erythema;HP:0000582|Upslanted palpebral fissure;HP:0000347|Micrognathia;HP:0100490|Camptodactyly of finger;HP:0100326|Immunologic hypersensitivity;HP:0002615|Hypotension;HP:0011344|Severe global developmental delay;HP:0100725|Lichenification;HP:0000924|Abnormality of the skeletal system;HP:0001250|Seizures;HP:0002093|Respiratory insufficiency;HP:0007400|Irregular hyperpigmentation;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0001284|Areflexia;HP:0011675|Arrhythmia;HP:0001508|Failure to thrive;HP:0000648|Optic atrophy;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0000405|Conductive hearing impairment;HP:0001249|Intellectual disability;HP:0000179|Thick lower lip vermilion;HP:0000325|Triangular face;HP:0000737|Irritability;HP:0000989|Pruritus;HP:0100559|Lower limb asymmetry;HP:0001072|Thickened skin;HP:0001252|Muscular hypotonia;HP:0002090|Pneumonia;HP:0200034|Papule;HP:0008551|Microtia;HP:0007440|Generalized hyperpigmentation;HP:0100495|Mastocytosis;HP:0000270|Delayed cranial suture closure
x-linked intellectual disability, shashi type	HP:0000053|Macroorchidism;HP:0001250|Seizures;HP:0001513|Obesity;HP:0002342|Intellectual disability, moderate;HP:0000581|Blepharophimosis;HP:0000336|Prominent supraorbital ridges;HP:0000400|Macrotia;HP:0000280|Coarse facial features;HP:0000414|Bulbous nose;HP:0000232|Everted lower lip vermilion;HP:0100540|Palpebral edema;HP:0000750|Delayed speech and language development
holzgreve-wagner-rehder syndrome	HP:0008678|Renal hypoplasia/aplasia;HP:0000262|Turricephaly;HP:0000175|Cleft palate;HP:0001195|Single umbilical artery;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0001387|Joint stiffness;HP:0002564|Malformation of the heart and great vessels;HP:0001163|Abnormality of the metacarpal bones;HP:0000465|Webbed neck;HP:0010297|Bifid tongue;HP:0000400|Macrotia;HP:0000368|Low-set, posteriorly rotated ears;HP:0001562|Oligohydramnios;HP:0001161|Hand polydactyly;HP:0001511|Intrauterine growth retardation;HP:0000772|Abnormality of the ribs;HP:0002997|Abnormality of the ulna;HP:0100016|Abnormality of the mesentery;HP:0100569|Abnormal vertebral ossification;HP:0010295|Aplasia/Hypoplasia of the tongue
oculoauriculovertebral spectrum with radial defects	HP:0000078|Abnormality of the genital system;HP:0100543|Cognitive impairment;HP:0004322|Short stature;HP:0008678|Renal hypoplasia/aplasia;HP:0000154|Wide mouth;HP:0002564|Malformation of the heart and great vessels;HP:0004452|Abnormality of the middle ear ossicles;HP:0008056|Aplasia/Hypoplasia affecting the eye;HP:0000359|Abnormality of the inner ear;HP:0004467|Preauricular pit;HP:0006511|Laryngeal stridor;HP:0000407|Sensorineural hearing impairment;HP:0000384|Preauricular skin tag;HP:0000076|Vesicoureteral reflux;HP:0100335|Non-midline cleft lip;HP:0000413|Atresia of the external auditory canal;HP:0003778|Short mandibular rami;HP:0000324|Facial asymmetry;HP:0000175|Cleft palate;HP:0001177|Preaxial hand polydactyly;HP:0003458|EMG: myopathic abnormalities;HP:0000405|Conductive hearing impairment;HP:0000202|Oral cleft;HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0001199|Triphalangeal thumb;HP:0006695|Atrioventricular canal defect;HP:0009800|Maternal diabetes;HP:0008551|Microtia;HP:0008706|Distal urethral duplication;HP:0004397|Ectopic anus
distal xq28 microduplication syndrome	HP:0001263|Global developmental delay;HP:0004322|Short stature;HP:0002788|Recurrent upper respiratory tract infections;HP:0012724|Upper eyelid edema;HP:0000218|High palate;HP:0000678|Dental crowding;HP:0011234|Absent antihelix;HP:0002099|Asthma;HP:0000750|Delayed speech and language development;HP:0000455|Broad nasal tip;HP:0002829|Arthralgia;HP:0000490|Deeply set eye;HP:0011730|Abnormality of central sensory function;HP:0001643|Patent ductus arteriosus;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0003550|Predominantly lower limb lymphedema;HP:0030084|Clinodactyly;HP:0000718|Aggressive behavior;HP:0000194|Open mouth;HP:0000739|Anxiety;HP:0010862|Delayed fine motor development;HP:0000729|Autistic behavior;HP:0003265|Neonatal hyperbilirubinemia;HP:0000327|Hypoplasia of the maxilla;HP:0012172|Stereotypical body rocking;HP:0000252|Microcephaly;HP:0012169|Self-biting;HP:0000200|Short lingual frenulum;HP:0030051|Tip-toe gait;HP:0007018|Attention deficit hyperactivity disorder;HP:0001249|Intellectual disability;HP:0000957|Cafe-au-lait spot;HP:0000179|Thick lower lip vermilion;HP:0000421|Epistaxis;HP:0000348|High forehead;HP:0100710|Impulsivity;HP:0001840|Metatarsus adductus;HP:0000716|Depression;HP:0000817|Poor eye contact;HP:0008551|Microtia;HP:0003324|Generalized muscle weakness;HP:0000821|Hypothyroidism;HP:0001655|Patent foramen ovale
rhizomelic syndrome, urbach type	HP:0000157|Abnormality of the tongue;HP:0001061|Acne;HP:0000470|Short neck;HP:0100543|Cognitive impairment;HP:0004322|Short stature;HP:0005930|Abnormality of epiphysis morphology;HP:0000218|High palate;HP:0005280|Depressed nasal bridge;HP:0001376|Limitation of joint mobility;HP:0001156|Brachydactyly syndrome;HP:0000347|Micrognathia;HP:0003063|Abnormality of the humerus;HP:0001642|Pulmonic stenosis;HP:0000175|Cleft palate;HP:0001177|Preaxial hand polydactyly;HP:0003312|Abnormal form of the vertebral bodies;HP:0000252|Microcephaly;HP:0000260|Wide anterior fontanel;HP:0002808|Kyphosis;HP:0009811|Abnormality of the elbow;HP:0002815|Abnormality of the knee;HP:0011362|Abnormal hair quantity;HP:0001199|Triphalangeal thumb;HP:0002827|Hip dislocation;HP:0008905|Rhizomelia;HP:0009882|Short distal phalanx of finger
verloove vanhorick-brubakk syndrome	HP:0000413|Atresia of the external auditory canal;HP:0000028|Cryptorchidism;HP:0000175|Cleft palate;HP:0000347|Micrognathia;HP:0000828|Abnormality of the parathyroid gland;HP:0003312|Abnormal form of the vertebral bodies;HP:0006101|Finger syndactyly;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0008368|Tarsal synostosis;HP:0000369|Low-set ears;HP:0002564|Malformation of the heart and great vessels;HP:0001163|Abnormality of the metacarpal bones;HP:0009826|Limb undergrowth;HP:0100542|Abnormal localization of kidney;HP:0008551|Microtia;HP:0002823|Abnormality of the femur;HP:0100335|Non-midline cleft lip;HP:0002644|Abnormality of pelvic girdle bone morphology
insulin-resistance syndrome type b	HP:0000123|Nephritis;HP:0012378|Fatigue;HP:0100879|Enlarged ovaries;HP:0001946|Ketosis;HP:0003261|Increased IgA level;HP:0002960|Autoimmunity;HP:0004323|Abnormality of body weight;HP:0001824|Weight loss;HP:0005416|Decreased serum complement factor B;HP:0000825|Hyperinsulinemic hypoglycemia;HP:0000093|Proteinuria;HP:0003565|Elevated erythrocyte sedimentation rate;HP:0001873|Thrombocytopenia;HP:0012189|Hodgkin lymphoma;HP:0001882|Leukopenia;HP:0000855|Insulin resistance;HP:0003074|Hyperglycemia;HP:0003119|Abnormality of lipid metabolism;HP:0000147|Polycystic ovaries;HP:0011998|Postprandial hyperglycemia;HP:0008283|Fasting hyperinsulinemia;HP:0005978|Type II diabetes mellitus;HP:0004325|Decreased body weight;HP:0000956|Acanthosis nigricans;HP:0001952|Abnormal glucose tolerance;HP:0000833|Glucose intolerance;HP:0002665|Lymphoma;HP:0003493|Antinuclear antibody positivity;HP:0000842|Hyperinsulinemia;HP:0004361|Abnormality of circulating leptin level;HP:0004324|Increased body weight;HP:0010286|Abnormality of the salivary glands;HP:0002758|Osteoarthritis;HP:0003076|Glycosuria;HP:0004924|Abnormal oral glucose tolerance;HP:0002725|Systemic lupus erythematosus;HP:0004359|Abnormality of fatty-acid metabolism;HP:0006775|Multiple myeloma;HP:0000988|Skin rash;HP:0003162|Fasting hypoglycemia;HP:0008675|Enlarged polycystic ovaries;HP:0003237|Increased IgG level;HP:0001596|Alopecia;HP:0001953|Diabetic ketoacidosis;HP:0030088|Increased serum testosterone level;HP:0002613|Biliary cirrhosis;HP:0001007|Hirsutism;HP:0002090|Pneumonia;HP:0012153|Hypotriglyceridemia;HP:0000831|Insulin-resistant diabetes mellitus;HP:0003073|Hypoalbuminemia
ankylosing vertebral hyperostosis with tylosisdiffuse idiopathic skeletal hyperostosis, included	HP:0008442|Vertebral hyperostosis;HP:0007508|Punctate palmar and solar hyperkeratosis
beemer-ertbruggen syndrome	HP:0000028|Cryptorchidism;HP:0000347|Micrognathia;HP:0001873|Thrombocytopenia;HP:0002093|Respiratory insufficiency;HP:0011001|Increased bone mineral density;HP:0002564|Malformation of the heart and great vessels;HP:0000368|Low-set, posteriorly rotated ears;HP:0001252|Muscular hypotonia;HP:0000062|Ambiguous genitalia;HP:0000414|Bulbous nose;HP:0000431|Wide nasal bridge;HP:0001334|Communicating hydrocephalus;HP:0002002|Deep philtrum
megalocornea-intellectual disability syndrome	HP:0000639|Nystagmus;HP:0001263|Global developmental delay;HP:0010978|Abnormality of immune system physiology;HP:0004322|Short stature;HP:0000545|Myopia;HP:0003124|Hypercholesterolemia;HP:0000218|High palate;HP:0007676|Hypoplasia of the iris;HP:0000232|Everted lower lip vermilion;HP:0000347|Micrognathia;HP:0001251|Ataxia;HP:0002970|Genu varum;HP:0002007|Frontal bossing;HP:0100693|Iridodonesis;HP:0002167|Neurological speech impairment;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0000733|Stereotypy;HP:0000407|Sensorineural hearing impairment;HP:0000194|Open mouth;HP:0000494|Downslanted palpebral fissures;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000256|Macrocephaly;HP:0000593|Abnormality of the anterior chamber;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0000938|Osteopenia;HP:0001182|Tapered finger;HP:0010508|Metatarsus valgus;HP:0000483|Astigmatism;HP:0000485|Megalocornea;HP:0002808|Kyphosis;HP:0000431|Wide nasal bridge;HP:0001249|Intellectual disability;HP:0000322|Short philtrum;HP:0000411|Protruding ear;HP:0009891|Underdeveloped supraorbital ridges;HP:0001252|Muscular hypotonia;HP:0000821|Hypothyroidism
nodular non-suppurative panniculitis	HP:0010783|Erythema;HP:0002829|Arthralgia;HP:0001744|Splenomegaly;HP:0003326|Myalgia;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0100533|Inflammatory abnormality of the eye;HP:0012490|Panniculitis;HP:0002027|Abdominal pain;HP:0001482|Subcutaneous nodule;HP:0002017|Nausea and vomiting;HP:0001824|Weight loss;HP:0001945|Fever;HP:0002960|Autoimmunity;HP:0002240|Hepatomegaly;HP:0000969|Edema
autosomal recessive palmoplantar keratoderma and congenital alopecia	HP:0000987|Atypical scarring of skin;HP:0008404|Nail dystrophy;HP:0000505|Visual impairment;HP:0000518|Cataract;HP:0001387|Joint stiffness;HP:0007418|Alopecia totalis;HP:0100679|Lack of skin elasticity;HP:0001482|Subcutaneous nodule;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0000982|Palmoplantar keratoderma
xq12-q13.3 duplication syndrome	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0002079|Hypoplasia of the corpus callosum;HP:0004691|2-3 toe syndactyly;HP:0000543|Optic disc pallor;HP:0004322|Short stature;HP:0002788|Recurrent upper respiratory tract infections;HP:0002119|Ventriculomegaly;HP:0003700|Generalized amyotrophy;HP:0005280|Depressed nasal bridge;HP:0000232|Everted lower lip vermilion;HP:0000767|Pectus excavatum;HP:0030353|Decreased serum insulin-like growth factor 1;HP:0000750|Delayed speech and language development;HP:0100739|Bulimia;HP:0003236|Elevated serum creatine phosphokinase;HP:0000316|Hypertelorism;HP:0002521|Hypsarrhythmia;HP:0001054|Numerous nevi;HP:0000713|Agitation;HP:0000708|Behavioral abnormality;HP:0000286|Epicanthus;HP:0000729|Autistic behavior;HP:0012751|Abnormal basal ganglia MRI signal intensity;HP:0009908|Anterior creases of earlobe;HP:0000252|Microcephaly;HP:0011343|Moderate global developmental delay;HP:0001249|Intellectual disability;HP:0003282|Low alkaline phosphatase;HP:0000325|Triangular face;HP:0011265|Cleft earlobe;HP:0007328|Impaired pain sensation;HP:0000649|Abnormality of visual evoked potentials;HP:0000964|Eczema;HP:0010554|Cutaneous finger syndactyly;HP:0001252|Muscular hypotonia;HP:0002123|Generalized myoclonic seizures
ketamine-induced biliary dilatation	HP:0000738|Hallucinations;HP:0002027|Abdominal pain;HP:0012440|Abnormal biliary tract morphology;HP:0100518|Dysuria
familial primary pulmonary hypoplasia	HP:0002089|Pulmonary hypoplasia
alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome	HP:0000815|Hypergonadotropic hypogonadism;HP:0007418|Alopecia totalis;HP:0001256|Intellectual disability, mild
ichthyosis follicularis-alopecia-photophobia syndrome	HP:0000639|Nystagmus;HP:0001025|Urticaria;HP:0001274|Agenesis of corpus callosum;HP:0000028|Cryptorchidism;HP:0001155|Abnormality of the hand;HP:0000492|Abnormality of the eyelid;HP:0000682|Abnormality of dental enamel;HP:0001006|Hypotrichosis;HP:0001331|Absent septum pellucidum;HP:0000545|Myopia;HP:0001268|Mental deterioration;HP:0000453|Choanal atresia;HP:0000072|Hydroureter;HP:0001321|Cerebellar hypoplasia;HP:0002046|Heat intolerance;HP:0002251|Aganglionic megacolon;HP:0002376|Developmental regression;HP:0010935|Abnormality of the upper urinary tract;HP:0100825|Cheilitis;HP:0002205|Recurrent respiratory infections;HP:0010783|Erythema;HP:0004370|Abnormality of temperature regulation;HP:0002007|Frontal bossing;HP:0000126|Hydronephrosis;HP:0200020|Corneal erosion;HP:0012157|Subcortical cerebral atrophy;HP:0100534|Episcleritis;HP:0002223|Absent eyebrow;HP:0100257|Ectrodactyly;HP:0002120|Cerebral cortical atrophy;HP:0001812|Hyperconvex fingernails;HP:0002719|Recurrent infections;HP:0011968|Feeding difficulties;HP:0001510|Growth delay;HP:0001250|Seizures;HP:0000925|Abnormality of the vertebral column;HP:0000962|Hyperkeratosis;HP:0007957|Corneal opacity;HP:0100308|Cerebral cortical hemiatrophy;HP:0000554|Uveitis;HP:0100532|Scleritis;HP:0000077|Abnormality of the kidney;HP:0000966|Hypohidrosis;HP:0000252|Microcephaly;HP:0001539|Omphalocele;HP:0003468|Abnormality of the vertebrae;HP:0000483|Astigmatism;HP:0000498|Blepharitis;HP:0000726|Dementia;HP:0001508|Failure to thrive;HP:0002808|Kyphosis;HP:0000926|Platyspondyly;HP:0000491|Keratitis;HP:0001595|Abnormality of the hair;HP:0000023|Inguinal hernia;HP:0012165|Oligodactyly;HP:0001249|Intellectual disability;HP:0001597|Abnormality of the nail;HP:0040163|Abnormal pelvis bone morphology;HP:0012742|Thin fingernail;HP:0045074|Thin eyebrow;HP:0001596|Alopecia;HP:0002721|Immunodeficiency;HP:0003510|Severe short stature;HP:0002750|Delayed skeletal maturation;HP:0000613|Photophobia;HP:0000400|Macrotia;HP:0000509|Conjunctivitis;HP:0001328|Specific learning disability;HP:0000499|Abnormality of the eyelashes;HP:0000614|Abnormality of the nasolacrimal system;HP:0001252|Muscular hypotonia;HP:0000964|Eczema;HP:0200034|Papule;HP:0001804|Hypoplastic fingernail;HP:0100490|Camptodactyly of finger;HP:0002718|Recurrent bacterial infections;HP:0008064|Ichthyosis
familial supernumerary nipples	HP:0002558|Supernumerary nipple;HP:0000119|Abnormality of the genitourinary system
x-linked intellectual disability, miles-carpenter type	HP:0010864|Intellectual disability, severe;HP:0000135|Hypogonadism;HP:0000324|Facial asymmetry;HP:0000577|Exotropia;HP:0005692|Joint hyperflexibility;HP:0001838|Rocker bottom foot;HP:0007477|Abnormal dermatoglyphics;HP:0003202|Skeletal muscle atrophy;HP:0000482|Microcornea
aniridia-absent patella syndrome	HP:0000028|Cryptorchidism;HP:0000518|Cataract;HP:0000526|Aniridia;HP:0006498|Aplasia/Hypoplasia of the patella;HP:0001252|Muscular hypotonia;HP:0000501|Glaucoma;HP:0000023|Inguinal hernia;HP:0000508|Ptosis
46,xy disorder of sex development-adrenal insufficiency due to cyp11a1 deficiency syndrome	HP:0000028|Cryptorchidism;HP:0001274|Agenesis of corpus callosum;HP:0003107|Abnormality of cholesterol metabolism;HP:0000037|Male pseudohermaphroditism;HP:0002013|Vomiting;HP:0000033|Ambiguous genitalia, male;HP:0008073|Low maternal serum estriol;HP:0007574|Generalized bronze hyperpigmentation;HP:0001998|Neonatal hypoglycemia;HP:0008734|Decreased testicular size;HP:0002924|Decreased circulating aldosterone level;HP:0008730|Female external genitalia in individual with 46,XY karyotype;HP:0012244|Abnormal sex determination;HP:0000848|Increased circulating renin level;HP:0012605|Hypernatriuria;HP:0008163|Decreased circulating cortisol level;HP:0012598|Abnormal urine potassium concentration;HP:0030369|Induced vaginal delivery;HP:0000151|Aplasia of the uterus;HP:0002902|Hyponatremia;HP:0001941|Acidosis;HP:0002615|Hypotension;HP:0011969|Elevated luteinizing hormone;HP:0012245|Sex reversal;HP:0030349|Decreased circulating androgen level;HP:0001944|Dehydration;HP:0011968|Feeding difficulties;HP:0007440|Generalized hyperpigmentation;HP:0003154|Increased circulating ACTH level;HP:0000771|Gynecomastia;HP:0011106|Hypovolemia;HP:0000057|Clitoromegaly;HP:0000939|Osteoporosis;HP:0008187|Absence of secondary sex characteristics;HP:0001622|Premature birth;HP:0011749|Adrenocorticotropic hormone excess;HP:0001508|Failure to thrive;HP:0000823|Delayed puberty;HP:0000835|Adrenal hypoplasia;HP:0002153|Hyperkalemia;HP:0001197|Abnormality of prenatal development or birth;HP:0010789|Abnormality of the Leydig cells;HP:0000142|Abnormality of the vagina;HP:0000127|Renal salt wasting;HP:0002750|Delayed skeletal maturation;HP:0012854|Midshaft hypospadias;HP:0100779|Urogenital sinus anomaly;HP:0008207|Primary adrenal insufficiency;HP:0004349|Reduced bone mineral density;HP:0000144|Decreased fertility;HP:0008232|Elevated follicle stimulating hormone
3p25.3 microdeletion syndrome	HP:0000568|Microphthalmia;HP:0000356|Abnormality of the outer ear;HP:0000581|Blepharophimosis;HP:0001629|Ventricular septal defect;HP:0001344|Absent speech;HP:0000248|Brachycephaly;HP:0005280|Depressed nasal bridge;HP:0001677|Coronary artery disease;HP:0001631|Atrial septal defect;HP:0100259|Postaxial polydactyly;HP:0000750|Delayed speech and language development;HP:0012762|Cerebral white matter atrophy;HP:0010055|Broad hallux;HP:0000347|Micrognathia;HP:0001251|Ataxia;HP:0000303|Mandibular prognathia;HP:0001270|Motor delay;HP:0001845|Overlapping toe;HP:0000733|Stereotypy;HP:0000960|Sacral dimple;HP:0001643|Patent ductus arteriosus;HP:0003086|Acromesomelia;HP:0000407|Sensorineural hearing impairment;HP:0001642|Pulmonic stenosis;HP:0002714|Downturned corners of mouth;HP:0001233|2-3 finger syndactyly;HP:0000494|Downslanted palpebral fissures;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0000729|Autistic behavior;HP:0002650|Scoliosis;HP:0001182|Tapered finger;HP:0010663|Abnormality of thalamus morphology;HP:0009623|Proximal placement of thumb;HP:0007018|Attention deficit hyperactivity disorder;HP:0000448|Prominent nose;HP:0002021|Pyloric stenosis;HP:0002069|Generalized tonic-clonic seizures;HP:0006585|Congenital pseudoarthrosis of the clavicle;HP:0002705|High, narrow palate;HP:0000322|Short philtrum;HP:0000341|Narrow forehead;HP:0000219|Thin upper lip vermilion;HP:0000463|Anteverted nares;HP:0011304|Broad thumb;HP:0006380|Knee flexion contracture;HP:0002121|Absence seizures;HP:0001252|Muscular hypotonia;HP:0002123|Generalized myoclonic seizures;HP:0002002|Deep philtrum;HP:0003202|Skeletal muscle atrophy
functioning gonadotropic adenoma	HP:0002050|Macroorchidism, postpubertal;HP:0000863|Central diabetes insipidus;HP:0011748|Adrenocorticotropic hormone deficiency;HP:0012378|Fatigue;HP:0000798|Oligospermia;HP:0000824|Growth hormone deficiency;HP:0040086|Abnormal prolactin level;HP:0000837|Increased circulating gonadotropin level;HP:0011759|Pituitary gonadotropic cell adenoma;HP:0000871|Panhypopituitarism;HP:0000140|Abnormality of the menstrual cycle;HP:0001541|Ascites;HP:0012246|Oculomotor nerve palsy;HP:0100829|Galactorrhea;HP:0000138|Ovarian cyst;HP:0000938|Osteopenia;HP:0000939|Osteoporosis;HP:0000823|Delayed puberty;HP:0000830|Anterior hypopituitarism;HP:0009888|Abnormality of secondary sexual hair;HP:0000802|Impotence;HP:0008675|Enlarged polycystic ovaries;HP:0030018|Decreased female libido;HP:0000789|Infertility;HP:0000505|Visual impairment;HP:0001123|Visual field defect;HP:0030088|Increased serum testosterone level;HP:0000141|Amenorrhea;HP:0002750|Delayed skeletal maturation;HP:0002625|Deep venous thrombosis;HP:0000238|Hydrocephalus;HP:0008236|Isosexual precocious puberty;HP:0002315|Headache;HP:0008245|Pituitary hypothyroidism
49,xyyyy syndrome	HP:0009237|Short 5th finger;HP:0001263|Global developmental delay;HP:0000744|Low frustration tolerance;HP:0000262|Turricephaly;HP:0000027|Azoospermia;HP:0002788|Recurrent upper respiratory tract infections;HP:0002119|Ventriculomegaly;HP:0001176|Large hands;HP:0008734|Decreased testicular size;HP:0040171|Decreased serum testosterone level;HP:0000243|Trigonocephaly;HP:0000394|Lop ear;HP:0003946|Abnormality of the epiphyses of the elbow;HP:0000750|Delayed speech and language development;HP:0000347|Micrognathia;HP:0004237|Large carpal bones;HP:0011310|Bridged palmar crease;HP:0000316|Hypertelorism;HP:0000837|Increased circulating gonadotropin level;HP:0040019|Finger clinodactyly;HP:0000708|Behavioral abnormality;HP:0003241|External genital hypoplasia;HP:0000771|Gynecomastia;HP:0000026|Male hypogonadism;HP:0002650|Scoliosis;HP:0011343|Moderate global developmental delay;HP:0001999|Abnormal facial shape;HP:0000519|Congenital cataract;HP:0000119|Abnormality of the genitourinary system;HP:0045058|Abnormality of the testis size;HP:0001249|Intellectual disability;HP:0002761|Generalized joint laxity;HP:0002974|Radioulnar synostosis;HP:0003782|Eunuchoid habitus;HP:0100710|Impulsivity;HP:0002967|Cubitus valgus;HP:0002750|Delayed skeletal maturation;HP:0008193|Primary gonadal insufficiency;HP:0000368|Low-set, posteriorly rotated ears;HP:0000280|Coarse facial features;HP:0002500|Abnormality of the cerebral white matter;HP:0100559|Lower limb asymmetry;HP:0001252|Muscular hypotonia
isochromosomy yq	HP:0000771|Gynecomastia;HP:0003248|Gonadal tissue inappropriate for external genitalia or chromosomal sex;HP:0008193|Primary gonadal insufficiency;HP:0000027|Azoospermia;HP:0008734|Decreased testicular size;HP:0003251|Male infertility;HP:0000062|Ambiguous genitalia;HP:0012871|Varicocele
contractures-developmental delay-pierre robin syndrome	HP:0001166|Arachnodactyly;HP:0002944|Thoracolumbar scoliosis;HP:0000394|Lop ear;HP:0001631|Atrial septal defect;HP:0002870|Obstructive sleep apnea;HP:0000750|Delayed speech and language development;HP:0000047|Hypospadias;HP:0000347|Micrognathia;HP:0001270|Motor delay;HP:0003396|Syringomyelia;HP:0001845|Overlapping toe;HP:0002687|Abnormality of the frontal sinuses;HP:0001762|Talipes equinovarus;HP:0000486|Strabismus;HP:0001239|Wrist flexion contracture;HP:0000396|Overfolded helix;HP:0009778|Short thumb;HP:0007359|Focal seizures;HP:0009929|Abnormality of the columella;HP:0000494|Downslanted palpebral fissures;HP:0000612|Iris coloboma;HP:0000175|Cleft palate;HP:0000162|Glossoptosis;HP:0000023|Inguinal hernia;HP:0002360|Sleep disturbance;HP:0001167|Abnormality of finger;HP:0002705|High, narrow palate;HP:0012430|Cerebral white matter hypoplasia;HP:0002974|Radioulnar synostosis;HP:0001385|Hip dysplasia;HP:0004969|Peripheral pulmonary artery stenosis;HP:0007099|Arnold-Chiari type I malformation;HP:0001840|Metatarsus adductus;HP:0008551|Microtia;HP:0000430|Underdeveloped nasal alae
holoprosencephaly-hypokinesia-congenital contractures syndrome	HP:0000470|Short neck;HP:0000581|Blepharophimosis;HP:0001360|Holoprosencephaly;HP:0007477|Abnormal dermatoglyphics;HP:0001376|Limitation of joint mobility;HP:0008678|Renal hypoplasia/aplasia;HP:0000490|Deeply set eye;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0000347|Micrognathia;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0000369|Low-set ears;HP:0002120|Cerebral cortical atrophy;HP:0001511|Intrauterine growth retardation;HP:0002324|Hydranencephaly;HP:0002828|Multiple joint contractures;HP:0010662|Abnormality of the diencephalon;HP:0000252|Microcephaly;HP:0001181|Adducted thumb;HP:0100625|Enlarged thorax;HP:0002103|Abnormality of the pleura;HP:0001558|Decreased fetal movement;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0100490|Camptodactyly of finger;HP:0000340|Sloping forehead
corticosteroid-sensitive aseptic abscess syndrome	HP:0002910|Elevated hepatic transaminases;HP:0003326|Myalgia;HP:0030049|Brain abscess;HP:0000077|Abnormality of the kidney;HP:0002014|Diarrhea;HP:0002088|Abnormality of lung morphology;HP:0011897|Neutrophillia;HP:0002027|Abdominal pain;HP:0001824|Weight loss;HP:0011227|Elevated C-reactive protein level;HP:0001945|Fever;HP:0002733|Abnormality of the lymph nodes;HP:0001732|Abnormality of the pancreas;HP:0100763|Abnormality of the lymphatic system;HP:0001903|Anemia;HP:0100523|Liver abscess;HP:0000035|Abnormality of the testis
hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome	HP:0000044|Hypogonadotrophic hypogonadism;HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0000786|Primary amenorrhea;HP:0006353|Hypoplasia of the tooth germ;HP:0002553|Highly arched eyebrow;HP:0004322|Short stature;HP:0000545|Myopia;HP:0007266|Cerebral dysmyelination;HP:0001562|Oligohydramnios;HP:0008734|Decreased testicular size;HP:0000912|Sprengel anomaly;HP:0010055|Broad hallux;HP:0000347|Micrognathia;HP:0008527|Congenital sensorineural hearing impairment;HP:0001270|Motor delay;HP:0011246|Underdeveloped superior crus of antihelix;HP:0001845|Overlapping toe;HP:0000193|Bifid uvula;HP:0000316|Hypertelorism;HP:0011408|Moderate intrauterine growth retardation;HP:0001276|Hypertonia;HP:0011968|Feeding difficulties;HP:0001250|Seizures;HP:0000771|Gynecomastia;HP:0012795|Abnormality of the optic disc;HP:0007642|Congenital stationary night blindness;HP:0009185|Contracture of the proximal interphalangeal joint of the 5th finger;HP:0100689|Decreased corneal thickness;HP:0000252|Microcephaly;HP:0003799|Marked delay in bone age;HP:0011343|Moderate global developmental delay;HP:0000823|Delayed puberty;HP:0002857|Genu valgum;HP:0001761|Pes cavus;HP:0008850|Severe postnatal growth retardation;HP:0000411|Protruding ear;HP:0001123|Visual field defect;HP:0002750|Delayed skeletal maturation;HP:0000444|Convex nasal ridge;HP:0011304|Broad thumb;HP:0001007|Hirsutism;HP:0001328|Specific learning disability;HP:0000054|Micropenis;HP:0000831|Insulin-resistant diabetes mellitus;HP:0002061|Lower limb spasticity;HP:0001935|Microcytic anemia
epilepsy, x-linked, with variable learning disabilities and behaviordisorders	HP:0000256|Macrocrania;HP:0001328|Specific learning disability;HP:0007359|Partial seizures;HP:0000729|Pervasive developmental disorder;HP:0000718|Aggressive behaviour
camptodactyly syndrome, guadalajara type 1	HP:0001263|Global developmental delay;HP:0000160|Narrow mouth;HP:0011800|Midface retrusion;HP:0003691|Scapular winging;HP:0002553|Highly arched eyebrow;HP:0000581|Blepharophimosis;HP:0003196|Short nose;HP:0004322|Short stature;HP:0001770|Toe syndactyly;HP:0000248|Brachycephaly;HP:0009907|Attached earlobe;HP:0000218|High palate;HP:0005280|Depressed nasal bridge;HP:0000767|Pectus excavatum;HP:0001156|Brachydactyly syndrome;HP:0006292|Abnormality of dental eruption;HP:0012368|Flat face;HP:0000303|Mandibular prognathia;HP:0000506|Telecanthus;HP:0000276|Long face;HP:0000960|Sacral dimple;HP:0000774|Narrow chest;HP:0001511|Intrauterine growth retardation;HP:0002714|Downturned corners of mouth;HP:0002414|Spina bifida;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0001831|Short toe;HP:0003312|Abnormal form of the vertebral bodies;HP:0001822|Hallux valgus;HP:0000275|Narrow face;HP:0000252|Microcephaly;HP:0000664|Synophrys;HP:0000995|Melanocytic nevus;HP:0001249|Intellectual disability;HP:0002967|Cubitus valgus;HP:0002750|Delayed skeletal maturation;HP:0000463|Anteverted nares;HP:0010807|Open bite;HP:0100490|Camptodactyly of finger;HP:0000368|Low-set, posteriorly rotated ears;HP:0009891|Underdeveloped supraorbital ridges;HP:0008551|Microtia;HP:0000768|Pectus carinatum;HP:0000689|Dental malocclusion;HP:0009882|Short distal phalanx of finger;HP:0000482|Microcornea
recessive aplasia cutis congenita of limbs	HP:0000924|Abnormality of the skeletal system;HP:0007506|Congenital absence of skin of limbs;HP:0006101|Finger syndactyly;HP:0001770|Toe syndactyly;HP:0200042|Skin ulcer;HP:0001057|Aplasia cutis congenita
spastic ataxia-corneal dystrophy syndrome	HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0002503|Spinocerebellar tract degeneration;HP:0001251|Ataxia;HP:0001288|Gait disturbance;HP:0003457|EMG abnormality;HP:0000545|Myopia;HP:0001131|Corneal dystrophy;HP:0004313|Decreased antibody level in blood;HP:0000519|Congenital cataract;HP:0000648|Optic atrophy;HP:0004374|Hemiplegia/hemiparesis;HP:0002497|Spastic ataxia
autosomal dominant prognathism	HP:0000303|Mandibular prognathia;HP:0000232|Everted lower lip vermilion;HP:0010807|Open bite
benign paroxysmal tonic upgaze of childhood with ataxia	HP:0000639|Nystagmus;HP:0000496|Abnormality of eye movement;HP:0002131|Episodic ataxia
carey-fineman-ziter  syndrome	HP:0000807|Glandular hypospadias;HP:0003196|Short nose;HP:0004322|Short stature;HP:0002119|Ventriculomegaly;HP:0009751|Aplasia of the pectoralis major muscle;HP:0010628|Facial palsy;HP:0003198|Myopathy;HP:0000233|Thin vermilion border;HP:0000218|High palate;HP:0001600|Abnormality of the larynx;HP:0000508|Ptosis;HP:0010295|Aplasia/Hypoplasia of the tongue;HP:0000634|Impaired ocular abduction;HP:0001156|Brachydactyly syndrome;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0000347|Micrognathia;HP:0000126|Hydronephrosis;HP:0001762|Talipes equinovarus;HP:0000343|Long philtrum;HP:0009465|Ulnar deviation of finger;HP:0100735|Hypertensive crisis;HP:0001510|Growth delay;HP:0001602|Laryngeal stenosis;HP:0000494|Downslanted palpebral fissures;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0000162|Glossoptosis;HP:0002514|Cerebral calcification;HP:0000201|Pierre-Robin sequence;HP:0001249|Intellectual disability;HP:0000463|Anteverted nares;HP:0006824|Cranial nerve paralysis;HP:0001252|Muscular hypotonia;HP:0003202|Skeletal muscle atrophy
mesomelic dwarfism, reinhardt-pfeiffer type	HP:0003022|Hypoplasia of the ulna;HP:0005048|Synostosis of carpal bones;HP:0003048|Radial head subluxation;HP:0000486|Strabismus;HP:0000545|Myopia;HP:0003042|Elbow dislocation;HP:0003498|Disproportionate short stature;HP:0002992|Abnormality of the tibia;HP:0009465|Ulnar deviation of finger;HP:0003038|Fibular hypoplasia;HP:0010781|Skin dimples;HP:0002997|Abnormality of the ulna;HP:0002983|Micromelia
severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia	HP:0000322|Short philtrum;HP:0001250|Seizures;HP:0001357|Plagiocephaly;HP:0000175|Cleft palate;HP:0001800|Hypoplastic toenails;HP:0010864|Intellectual disability, severe;HP:0000303|Mandibular prognathia;HP:0002553|Highly arched eyebrow;HP:0001629|Ventricular septal defect;HP:0009835|Aplasia/Hypoplasia of the distal phalanges of the hand;HP:0000316|Hypertelorism;HP:0001252|Muscular hypotonia;HP:0000272|Malar flattening;HP:0010185|Aplasia/Hypoplasia of the distal phalanges of the toes;HP:0002714|Downturned corners of mouth;HP:0004397|Ectopic anus
bird headed-dwarfism, montreal type	HP:0002216|Premature graying of hair;HP:0000028|Cryptorchidism;HP:0000670|Carious teeth;HP:0007495|Prematurely aged appearance;HP:0007477|Abnormal dermatoglyphics;HP:0000508|Ptosis;HP:0000347|Micrognathia;HP:0009721|Shagreen patch;HP:0100578|Lipoatrophy;HP:0001276|Hypertonia;HP:0200115|Scalp hair loss;HP:0002353|EEG abnormality;HP:0000975|Hyperhidrosis;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0002808|Kyphosis;HP:0001249|Intellectual disability;HP:0006610|Wide intermamillary distance;HP:0002162|Low posterior hairline;HP:0004399|Congenital pyloric atresia;HP:0003422|Vertebral segmentation defect;HP:0000958|Dry skin;HP:0003510|Severe short stature;HP:0011362|Abnormal hair quantity;HP:0001347|Hyperreflexia;HP:0010807|Open bite;HP:0000444|Convex nasal ridge;HP:0000368|Low-set, posteriorly rotated ears;HP:0000174|Abnormality of the palate;HP:0004349|Reduced bone mineral density
x-linked charcot-marie-tooth disease type 3	HP:0001257|Spasticity;HP:0002463|Language impairment;HP:0001251|Ataxia;HP:0000763|Sensory neuropathy;HP:0001288|Gait disturbance;HP:0003390|Sensory axonal neuropathy;HP:0001324|Muscle weakness;HP:0008944|Distal lower limb amyotrophy;HP:0001337|Tremor;HP:0002650|Scoliosis;HP:0003477|Peripheral axonal neuropathy;HP:0002385|Paraparesis;HP:0000365|Hearing impairment;HP:0007256|Abnormal pyramidal signs;HP:0007002|Motor axonal neuropathy;HP:0002808|Kyphosis;HP:0007328|Impaired pain sensation;HP:0001262|Excessive daytime somnolence;HP:0001260|Dysarthria;HP:0001249|Intellectual disability
nephropathy-deafness-hyperparathyroidism syndrome	HP:0012062|Bone cyst;HP:0000843|Hyperparathyroidism;HP:0003072|Hypercalcemia;HP:0100820|Glomerulopathy;HP:0000407|Sensorineural hearing impairment;HP:0000093|Proteinuria;HP:0001903|Anemia;HP:0000083|Renal insufficiency
glycogen storage disease due to glucose-6-phosphatase deficiency	HP:0001250|Seizures;HP:0100543|Cognitive impairment;HP:0004322|Short stature;HP:0000293|Full cheeks;HP:0003077|Hyperlipidemia;HP:0001943|Hypoglycemia;HP:0000991|Xanthomatosis;HP:0001252|Muscular hypotonia;HP:0002149|Hyperuricemia;HP:0002719|Recurrent infections;HP:0002205|Recurrent respiratory infections
glycogen storage disease due to glycogen branching enzyme deficiency	HP:0001410|Decreased liver function;HP:0100022|Abnormality of movement;HP:0012115|Hepatitis;HP:0001639|Hypertrophic cardiomyopathy;HP:0001252|Muscular hypotonia;HP:0001541|Ascites;HP:0001939|Abnormality of metabolism/homeostasis
familial scheuermann disease	HP:0002808|Kyphosis;HP:0003312|Abnormal form of the vertebral bodies
paternal uniparental disomy of chromosome x	HP:0000914|Shield chest;HP:0001256|Intellectual disability, mild;HP:0001263|Global developmental delay;HP:0000470|Short neck;HP:0002162|Low posterior hairline;HP:0002916|Abnormality of chromosome segregation;HP:0000789|Infertility;HP:0002967|Cubitus valgus;HP:0004322|Short stature;HP:0011343|Moderate global developmental delay;HP:0000368|Low-set, posteriorly rotated ears;HP:0001249|Intellectual disability;HP:0008734|Decreased testicular size;HP:0001252|Muscular hypotonia;HP:0000054|Micropenis;HP:0100853|Hypoplastic areola;HP:0010049|Short metacarpal;HP:0006610|Wide intermamillary distance
xp22.13p22.2 duplication syndrome	HP:0000470|Short neck;HP:0004691|2-3 toe syndactyly;HP:0004322|Short stature;HP:0002788|Recurrent upper respiratory tract infections;HP:0000365|Hearing impairment;HP:0000218|High palate;HP:0000767|Pectus excavatum;HP:0000455|Broad nasal tip;HP:0007164|Slowed slurred speech;HP:0002342|Intellectual disability, moderate;HP:0000303|Mandibular prognathia;HP:0009890|High anterior hairline;HP:0001537|Umbilical hernia;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0000147|Polycystic ovaries;HP:0000540|Hypermetropia;HP:0000739|Anxiety;HP:0000494|Downslanted palpebral fissures;HP:0001250|Seizures;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0001182|Tapered finger;HP:0011343|Moderate global developmental delay;HP:0001999|Abnormal facial shape;HP:0008070|Sparse hair;HP:0007018|Attention deficit hyperactivity disorder;HP:0200055|Small hand;HP:0000053|Macroorchidism;HP:0000454|Flared nostrils;HP:0001956|Truncal obesity;HP:0001620|High pitched voice;HP:0001252|Muscular hypotonia;HP:0000776|Congenital diaphragmatic hernia
dysostosis, stanescu type	HP:0000670|Carious teeth;HP:0000470|Short neck;HP:0000520|Proptosis;HP:0011800|Midface retrusion;HP:0006487|Bowing of the long bones;HP:0000682|Abnormality of dental enamel;HP:0004322|Short stature;HP:0000248|Brachycephaly;HP:0000929|Abnormality of the skull;HP:0005930|Abnormality of epiphysis morphology;HP:0005105|Abnormal nasal morphology;HP:0002645|Wormian bones;HP:0000767|Pectus excavatum;HP:0001156|Brachydactyly syndrome;HP:0002652|Skeletal dysplasia;HP:0012368|Flat face;HP:0003307|Hyperlordosis;HP:0000316|Hypertelorism;HP:0000158|Macroglossia;HP:0000164|Abnormality of the teeth;HP:0009804|Reduced number of teeth;HP:0011001|Increased bone mineral density;HP:0000327|Hypoplasia of the maxilla;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0002514|Cerebral calcification;HP:0002808|Kyphosis;HP:0005665|Massively thickened long bone cortices;HP:0100777|Exostoses;HP:0000444|Convex nasal ridge;HP:0004474|Persistent open anterior fontanelle;HP:0000174|Abnormality of the palate;HP:0000446|Narrow nasal bridge;HP:0000944|Abnormality of the metaphyses;HP:0002983|Micromelia;HP:0010669|Cheekbone underdevelopment
alar cartilages hypoplasia-coloboma-telecanthus syndrome	HP:0003191|Cleft ala nasi;HP:0000506|Telecanthus;HP:0000444|Convex nasal ridge;HP:0000316|Hypertelorism;HP:0000431|Wide nasal bridge;HP:0100335|Non-midline cleft lip;HP:0000430|Underdeveloped nasal alae
cooper-jabs syndrome	HP:0004322|Short stature;HP:0001629|Ventricular septal defect;HP:0000248|Brachycephaly;HP:0007477|Abnormal dermatoglyphics;HP:0001545|Anteriorly placed anus;HP:0002007|Frontal bossing;HP:0001537|Umbilical hernia;HP:0000486|Strabismus;HP:0000921|Missing ribs;HP:0005692|Joint hyperflexibility;HP:0000772|Abnormality of the ribs;HP:0000413|Atresia of the external auditory canal;HP:0002093|Respiratory insufficiency;HP:0002650|Scoliosis;HP:0003272|Abnormality of the hip bone;HP:0009623|Proximal placement of thumb;HP:0000370|Abnormality of the middle ear;HP:0000272|Malar flattening;HP:0000405|Conductive hearing impairment;HP:0001249|Intellectual disability;HP:0000463|Anteverted nares;HP:0100490|Camptodactyly of finger;HP:0000368|Low-set, posteriorly rotated ears;HP:0001252|Muscular hypotonia;HP:0004349|Reduced bone mineral density;HP:0000776|Congenital diaphragmatic hernia
junctional epidermolysis bullosa, non-herlitz type	HP:0006297|Hypoplasia of dental enamel;HP:0000796|Urethral obstruction;HP:0001802|Absent toenail;HP:0000014|Abnormality of the bladder;HP:0004334|Dermal atrophy;HP:0001600|Abnormality of the larynx;HP:0008404|Nail dystrophy;HP:0000126|Hydronephrosis;HP:0100577|Urinary bladder inflammation;HP:0200097|Oral mucosal blisters;HP:0200020|Corneal erosion;HP:0001010|Hypopigmentation of the skin;HP:0200042|Skin ulcer;HP:0001508|Failure to thrive;HP:0001030|Fragile skin;HP:0001817|Absent fingernail;HP:0000953|Hyperpigmentation of the skin;HP:0002021|Pyloric stenosis;HP:0200037|Skin vesicle;HP:0001510|Growth delay;HP:0000083|Renal insufficiency
chondroectodermal dysplasia with night blindness	HP:0008404|Nail dystrophy;HP:0003025|Metaphyseal irregularity;HP:0004322|Short stature;HP:0003886|Wide humerus;HP:0008110|Equinovarus deformity;HP:0002355|Difficulty walking;HP:0003084|Fractures of the long bones;HP:0008394|Congenital onychodystrophy;HP:0100255|Metaphyseal dysplasia;HP:0003045|Abnormality of the patella;HP:0000347|Micrognathia;HP:0006482|Abnormality of dental morphology;HP:0009926|Increased lacrimation;HP:0002656|Epiphyseal dysplasia;HP:0001812|Hyperconvex fingernails;HP:0000388|Otitis media;HP:0000975|Hyperhidrosis;HP:0001288|Gait disturbance;HP:0007642|Congenital stationary night blindness;HP:0000938|Osteopenia;HP:0000939|Osteoporosis;HP:0000926|Platyspondyly;HP:0001595|Abnormality of the hair;HP:0012542|Onychauxis;HP:0002815|Abnormality of the knee;HP:0008124|Talipes calcaneovarus;HP:0002750|Delayed skeletal maturation;HP:0030055|Hyperconvex toenail
perioral myoclonia with absences	HP:0012462|Chin myoclonus;HP:0011168|Eyelid myoclonias;HP:0002527|Falls;HP:0004372|Reduced consciousness/confusion;HP:0002123|Generalized myoclonic seizures;HP:0002069|Generalized tonic-clonic seizures;HP:0010850|EEG with spike-wave complexes;HP:0002371|Loss of speech;HP:0001249|Intellectual disability
ehlers-danlos syndrome with platelet dysfunction from fibronectinabnormality	HP:0000987|Atypical scarring of skin;HP:0000963|Thin skin;HP:0000967|Petechiae;HP:0001634|Mitral valve prolapse;HP:0001388|Joint laxity;HP:0000974|Stretchable skin;HP:0001065|Purplish striae;HP:0000978|Bruisability
bullous dystrophy, macular type	HP:0001597|Abnormality of the nail;HP:0000078|Abnormality of the genital system;HP:0011362|Abnormal hair quantity;HP:0007418|Alopecia totalis;HP:0000252|Microcephaly;HP:0001182|Tapered finger;HP:0001063|Acrocyanosis;HP:0007440|Generalized hyperpigmentation;HP:0008066|Abnormal blistering of the skin;HP:0001249|Intellectual disability
congenital hypothyroidism due to maternal intake of antithyroid drugs	HP:0001263|Global developmental delay;HP:0000239|Large fontanelles;HP:0002663|Delayed epiphyseal ossification;HP:0001615|Hoarse cry;HP:0002019|Constipation;HP:0000365|Hearing impairment;HP:0000851|Congenital hypothyroidism;HP:0001697|Abnormality of the pericardium;HP:0005930|Abnormality of epiphysis morphology;HP:0001290|Generalized hypotonia;HP:0000135|Hypogonadism;HP:0005214|Intestinal obstruction;HP:0000969|Edema;HP:0001537|Umbilical hernia;HP:0001254|Lethargy;HP:0002615|Hypotension;HP:0000158|Macroglossia;HP:0001315|Reduced tendon reflexes;HP:0006579|Prolonged neonatal jaundice;HP:0008872|Feeding difficulties in infancy;HP:0000256|Macrocephaly;HP:0002360|Sleep disturbance;HP:0000853|Goiter;HP:0003270|Abdominal distention;HP:0002045|Hypothermia;HP:0000958|Dry skin;HP:0045017|Congenital malformation of the left heart;HP:0100540|Palpebral edema;HP:0000832|Primary hypothyroidism
osteopathia striata-cranial sclerosis syndrome	HP:0001263|Global developmental delay;HP:0001650|Aortic valve stenosis;HP:0000518|Cataract;HP:0000239|Large fontanelles;HP:0000248|Brachycephaly;HP:0010628|Facial palsy;HP:0000358|Posteriorly rotated ears;HP:0005465|Facial hyperostosis;HP:0000347|Micrognathia;HP:0012368|Flat face;HP:0002007|Frontal bossing;HP:0000369|Low-set ears;HP:0000193|Bifid uvula;HP:0001680|Coarctation of aorta;HP:0003298|Spina bifida occulta;HP:0002684|Thickened calvaria;HP:0003307|Hyperlordosis;HP:0001555|Asymmetry of the thorax;HP:0000684|Delayed eruption of teeth;HP:0008808|High iliac wings;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0011001|Increased bone mineral density;HP:0000256|Macrocephaly;HP:0005469|Flat occiput;HP:0002650|Scoliosis;HP:0002514|Cerebral calcification;HP:0002300|Mutism;HP:0011002|Osteopetrosis;HP:0000431|Wide nasal bridge;HP:0000405|Conductive hearing impairment;HP:0010529|Echolalia;HP:0001249|Intellectual disability;HP:0002705|High, narrow palate;HP:0000278|Retrognathia;HP:0003510|Severe short stature;HP:0008818|Large iliac wings;HP:0002357|Dysphasia;HP:0001328|Specific learning disability;HP:0011220|Prominent forehead;HP:0002381|Aphasia;HP:0100670|Rough bone trabeculation;HP:0000944|Abnormality of the metaphyses;HP:0000176|Submucous cleft hard palate;HP:0000270|Delayed cranial suture closure
spondylometaphyseal dysplasia, a4 type	HP:0002657|Spondylometaphyseal dysplasia;HP:0002812|Coxa vara;HP:0003510|Severe short stature;HP:0004279|Short palm;HP:0000926|Platyspondyly;HP:0001376|Limitation of joint mobility;HP:0006603|Flared, irregular rib ends;HP:0002983|Micromelia
ehlers-danlos syndrome type 11	HP:0001374|Congenital hip dislocation;HP:0003834|Shoulder dislocation;HP:0005692|Joint hyperflexibility;HP:0002823|Abnormality of the femur;HP:0002999|Patellar dislocation;HP:0000023|Inguinal hernia;HP:0009811|Abnormality of the elbow;HP:0002815|Abnormality of the knee
congenital panfollicular nevus	HP:0000962|Hyperkeratosis;HP:0010566|Hamartoma;HP:0012500|Verrucous papule;HP:0012531|Pain;HP:0000989|Pruritus;HP:0200036|Skin nodule
palmoplantar keratoderma-sclerodactyly syndrome	HP:0001597|Abnormality of the nail;HP:0000958|Dry skin;HP:0100679|Lack of skin elasticity;HP:0011838|Sclerodactyly;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0000982|Palmoplantar keratoderma;HP:0001792|Small nail
maternal uniparental disomy of chromosome x	HP:0003186|Inverted nipples;HP:0001263|Global developmental delay;HP:0001274|Agenesis of corpus callosum;HP:0000470|Short neck;HP:0004322|Short stature;HP:0000027|Azoospermia;HP:0001838|Rocker bottom foot;HP:0000233|Thin vermilion border;HP:0005280|Depressed nasal bridge;HP:0001635|Congestive heart failure;HP:0001371|Flexion contracture;HP:0001010|Hypopigmentation of the skin;HP:0003550|Predominantly lower limb lymphedema;HP:0000062|Ambiguous genitalia;HP:0000914|Shield chest;HP:0001250|Seizures;HP:0002916|Abnormality of chromosome segregation;HP:0001399|Hepatic failure;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0001249|Intellectual disability;HP:0002162|Low posterior hairline;HP:0003248|Gonadal tissue inappropriate for external genitalia or chromosomal sex;HP:0002967|Cubitus valgus;HP:0008193|Primary gonadal insufficiency;HP:0100490|Camptodactyly of finger
drug-induced localized lipodystrophy	HP:0010783|Erythema;HP:0003758|Reduced subcutaneous adipose tissue;HP:0007485|Absence of subcutaneous fat;HP:0001010|Hypopigmentation of the skin;HP:0100578|Lipoatrophy;HP:0000953|Hyperpigmentation of the skin
congenital lipoid adrenal hyperplasia due to star deficency	HP:0000028|Cryptorchidism;HP:0003107|Abnormality of cholesterol metabolism;HP:0000037|Male pseudohermaphroditism;HP:0002013|Vomiting;HP:0000033|Ambiguous genitalia, male;HP:0004322|Short stature;HP:0001998|Neonatal hypoglycemia;HP:0008734|Decreased testicular size;HP:0002924|Decreased circulating aldosterone level;HP:0003124|Hypercholesterolemia;HP:0008730|Female external genitalia in individual with 46,XY karyotype;HP:0012244|Abnormal sex determination;HP:0000848|Increased circulating renin level;HP:0012605|Hypernatriuria;HP:0008163|Decreased circulating cortisol level;HP:0012598|Abnormal urine potassium concentration;HP:0002902|Hyponatremia;HP:0001941|Acidosis;HP:0002615|Hypotension;HP:0011969|Elevated luteinizing hormone;HP:0012245|Sex reversal;HP:0030349|Decreased circulating androgen level;HP:0001944|Dehydration;HP:0000140|Abnormality of the menstrual cycle;HP:0011968|Feeding difficulties;HP:0007440|Generalized hyperpigmentation;HP:0000840|Adrenogenital syndrome;HP:0003154|Increased circulating ACTH level;HP:0000771|Gynecomastia;HP:0008256|Adrenocortical adenoma;HP:0011106|Hypovolemia;HP:0000868|Decreased fertility in females;HP:0008187|Absence of secondary sex characteristics;HP:0000939|Osteoporosis;HP:0011749|Adrenocorticotropic hormone excess;HP:0001508|Failure to thrive;HP:0000823|Delayed puberty;HP:0002153|Hyperkalemia;HP:0001197|Abnormality of prenatal development or birth;HP:0011742|Ectopic adrenal gland;HP:0000142|Abnormality of the vagina;HP:0000127|Renal salt wasting;HP:0002750|Delayed skeletal maturation;HP:0100779|Urogenital sinus anomaly;HP:0008258|Congenital adrenal hyperplasia;HP:0008207|Primary adrenal insufficiency;HP:0008669|Abnormal spermatogenesis;HP:0012041|Decreased fertility in males;HP:0004349|Reduced bone mineral density;HP:0000144|Decreased fertility;HP:0008232|Elevated follicle stimulating hormone
x-linked intellectual disability, van esch type	HP:0000278|Retrognathia;HP:0000028|Cryptorchidism;HP:0001256|Intellectual disability, mild;HP:0005978|Type II diabetes mellitus;HP:0000026|Male hypogonadism;HP:0000735|Impaired social interactions;HP:0000815|Hypergonadotropic hypogonadism;HP:0012646|Retractile testis;HP:0002750|Delayed skeletal maturation;HP:0004322|Short stature;HP:0000252|Microcephaly;HP:0000837|Increased circulating gonadotropin level;HP:0008187|Absence of secondary sex characteristics;HP:0008734|Decreased testicular size;HP:0001508|Failure to thrive;HP:0001511|Intrauterine growth retardation;HP:0007018|Attention deficit hyperactivity disorder;HP:0004209|Clinodactyly of the 5th finger;HP:0008551|Microtia;HP:0040171|Decreased serum testosterone level;HP:0004440|Coronal craniosynostosis
intellectual disability, buenos-aires type	HP:0000768|Pectus carinatum;HP:0000581|Blepharophimosis;HP:0004322|Short stature;HP:0002213|Fine hair;HP:0000218|High palate;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0000303|Mandibular prognathia;HP:0001537|Umbilical hernia;HP:0000126|Hydronephrosis;HP:0002064|Spastic gait;HP:0006482|Abnormality of dental morphology;HP:0002167|Neurological speech impairment;HP:0000316|Hypertelorism;HP:0000494|Downslanted palpebral fissures;HP:0008407|Hyperconvex thumb nails;HP:0000252|Microcephaly;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0008425|Cuboid-shaped thoracolumbar vertebral bodies;HP:0001249|Intellectual disability;HP:0010807|Open bite;HP:0000613|Photophobia;HP:0004422|Biparietal narrowing;HP:0000400|Macrotia;HP:0002648|Abnormality of calvarial morphology;HP:0004349|Reduced bone mineral density;HP:0001231|Abnormality of the fingernails;HP:0000689|Dental malocclusion;HP:0001671|Abnormality of the cardiac septa;HP:0000340|Sloping forehead
46,xy ovotesticular disorder of sex development	HP:0000051|Perineal hypospadias;HP:0001197|Abnormality of prenatal development or birth;HP:0010461|Abnormality of the male genitalia;HP:0030258|Hyperpigmented genitalia;HP:0012244|Abnormal sex determination;HP:0000063|Fused labia minora;HP:0010460|Abnormality of the female genitalia;HP:0000041|Chordee;HP:0000039|Epispadias;HP:0100779|Urogenital sinus anomaly;HP:0000062|Ambiguous genitalia;HP:0012861|Ovotestis;HP:0000054|Micropenis;HP:0010459|True hermaphroditism;HP:0000150|Gonadoblastoma;HP:0000023|Inguinal hernia;HP:0000048|Bifid scrotum;HP:0000056|Abnormality of the clitoris;HP:0000058|Abnormality of the labia
short stature, brussels type	HP:0000256|Macrocephaly;HP:0100593|Calcification of cartilage;HP:0004322|Short stature;HP:0000308|Microretrognathia;HP:0002663|Delayed epiphyseal ossification;HP:0000325|Triangular face;HP:0001999|Abnormal facial shape;HP:0001510|Growth delay;HP:0000774|Narrow chest;HP:0000085|Horseshoe kidney
autosomal recessive amelia	HP:0000202|Oral cleft;HP:0000028|Cryptorchidism;HP:0000347|Micrognathia;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0009812|Amelia involving the upper limbs;HP:0010494|Acromelia of the lower limbs;HP:0000293|Full cheeks;HP:0000046|Scrotal hypoplasia;HP:0009827|Amelia;HP:0001671|Abnormality of the cardiac septa;HP:0100335|Non-midline cleft lip;HP:0008736|Hypoplasia of penis;HP:0001561|Polyhydramnios
48,xyyy syndrome	HP:0001263|Global developmental delay;HP:0000744|Low frustration tolerance;HP:0000470|Short neck;HP:0001061|Acne;HP:0006316|Irregularly spaced teeth;HP:0000027|Azoospermia;HP:0002788|Recurrent upper respiratory tract infections;HP:0000218|High palate;HP:0005280|Depressed nasal bridge;HP:0007477|Abnormal dermatoglyphics;HP:0002099|Asthma;HP:0000750|Delayed speech and language development;HP:0000098|Tall stature;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0003083|Dislocated radial head;HP:0000718|Aggressive behavior;HP:0011968|Feeding difficulties;HP:0001256|Intellectual disability, mild;HP:0000708|Behavioral abnormality;HP:0000286|Epicanthus;HP:0006297|Hypoplasia of dental enamel;HP:0000026|Male hypogonadism;HP:0001760|Abnormality of the foot;HP:0012210|Abnormal renal morphology;HP:0001249|Intellectual disability;HP:0002974|Radioulnar synostosis;HP:0000179|Thick lower lip vermilion;HP:0100710|Impulsivity;HP:0008193|Primary gonadal insufficiency;HP:0001763|Pes planus
adrenocortical carcinoma with pure aldosterone hypersecretion	HP:0001962|Palpitations;HP:0100631|Neoplasm of the adrenal gland;HP:0003401|Paresthesia;HP:0005135|EKG: T-wave abnormalities;HP:0002018|Nausea;HP:0011740|Glucocortocoid-insensitive primary hyperaldosteronism;HP:0000421|Epistaxis;HP:0001324|Muscle weakness;HP:0002900|Hypokalemia;HP:0003081|Increased urinary potassium;HP:0000822|Hypertension;HP:0003394|Muscle cramps;HP:0200114|Metabolic alkalosis;HP:0002170|Intracranial hemorrhage;HP:0001578|Hypercortisolism;HP:0002315|Headache;HP:0003351|Decreased circulating renin level;HP:0000360|Tinnitus
cardiomyopathy-hypotonia-lactic acidosis syndrome	HP:0000961|Cyanosis;HP:0001942|Metabolic acidosis;HP:0003128|Lactic acidosis;HP:0003198|Myopathy;HP:0001639|Hypertrophic cardiomyopathy;HP:0012103|Abnormality of the mitochondrion;HP:0001252|Muscular hypotonia;HP:0002151|Increased serum lactate;HP:0001508|Failure to thrive;HP:0002098|Respiratory distress;HP:0009805|Low-output congestive heart failure
distal trisomy 17q	HP:0001263|Global developmental delay;HP:0010864|Intellectual disability, severe;HP:0000028|Cryptorchidism;HP:0008619|Bilateral sensorineural hearing impairment;HP:0000581|Blepharophimosis;HP:0004322|Short stature;HP:0001166|Arachnodactyly;HP:0001321|Cerebellar hypoplasia;HP:0000218|High palate;HP:0005280|Depressed nasal bridge;HP:0000075|Renal duplication;HP:0000752|Hyperactivity;HP:0002572|Episodic vomiting;HP:0000347|Micrognathia;HP:0001627|Abnormal heart morphology;HP:0000154|Wide mouth;HP:0002007|Frontal bossing;HP:0001845|Overlapping toe;HP:0000316|Hypertelorism;HP:0006897|Cranial nerve VI palsy;HP:0002000|Short columella;HP:0000076|Vesicoureteral reflux;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0001822|Hallux valgus;HP:0001388|Joint laxity;HP:0000252|Microcephaly;HP:0002650|Scoliosis;HP:0002857|Genu valgum;HP:0001761|Pes cavus;HP:0000322|Short philtrum;HP:0002162|Low posterior hairline;HP:0000411|Protruding ear;HP:0003510|Severe short stature;HP:0000219|Thin upper lip vermilion;HP:0009911|Abnormality of the temporal bone;HP:0000368|Low-set, posteriorly rotated ears;HP:0001747|Accessory spleen;HP:0001161|Hand polydactyly;HP:0000768|Pectus carinatum;HP:0008905|Rhizomelia
x small rings	HP:0001263|Global developmental delay;HP:0010864|Intellectual disability, severe;HP:0000470|Short neck;HP:0000786|Primary amenorrhea;HP:0004691|2-3 toe syndactyly;HP:0001629|Ventricular septal defect;HP:0001562|Oligohydramnios;HP:0001770|Toe syndactyly;HP:0001718|Mitral stenosis;HP:0009816|Lower limb undergrowth;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0011968|Feeding difficulties;HP:0001510|Growth delay;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0007642|Congenital stationary night blindness;HP:0008209|Premature ovarian failure;HP:0001388|Joint laxity;HP:0001647|Bicuspid aortic valve;HP:0012725|Cutaneous syndactyly;HP:0001182|Tapered finger;HP:0000939|Osteoporosis;HP:0001999|Abnormal facial shape;HP:0010945|Fetal pyelectasis;HP:0004209|Clinodactyly of the 5th finger;HP:0002069|Generalized tonic-clonic seizures;HP:0001249|Intellectual disability;HP:0001319|Neonatal hypotonia;HP:0002162|Low posterior hairline;HP:0002616|Aortic root dilatation;HP:0000411|Protruding ear;HP:0009824|Upper limb undergrowth;HP:0400000|Tall chin;HP:0000219|Thin upper lip vermilion;HP:0000463|Anteverted nares;HP:0000280|Coarse facial features;HP:0000637|Long palpebral fissure;HP:0004349|Reduced bone mineral density
severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome	HP:0010864|Intellectual disability, severe;HP:0001250|Seizures;HP:0001513|Obesity;HP:0001288|Gait disturbance;HP:0006094|Finger joint hypermobility;HP:0000486|Strabismus;HP:0000280|Coarse facial features;HP:0001252|Muscular hypotonia;HP:0002857|Genu valgum;HP:0002360|Sleep disturbance;HP:0003028|Abnormality of the ankles
bone dysplasia, lethal holmgren type	HP:0000470|Short neck;HP:0001155|Abnormality of the hand;HP:0001824|Weight loss;HP:0005930|Abnormality of epiphysis morphology;HP:0001373|Joint dislocation;HP:0100255|Metaphyseal dysplasia;HP:0005989|Redundant neck skin;HP:0001631|Atrial septal defect;HP:0002205|Recurrent respiratory infections;HP:0000773|Short ribs;HP:0002652|Skeletal dysplasia;HP:0002007|Frontal bossing;HP:0012368|Flat face;HP:0002564|Malformation of the heart and great vessels;HP:0002014|Diarrhea;HP:0005692|Joint hyperflexibility;HP:0001172|Abnormality of the thumb;HP:0001643|Patent ductus arteriosus;HP:0002017|Nausea and vomiting;HP:0000774|Narrow chest;HP:0001639|Hypertrophic cardiomyopathy;HP:0002823|Abnormality of the femur;HP:0001903|Anemia;HP:0000457|Depressed nasal ridge;HP:0002093|Respiratory insufficiency;HP:0001508|Failure to thrive;HP:0002240|Hepatomegaly;HP:0009811|Abnormality of the elbow;HP:0001883|Talipes;HP:0001591|Bell-shaped thorax;HP:0000348|High forehead;HP:0008905|Rhizomelia;HP:0000463|Anteverted nares;HP:0000364|Hearing abnormality;HP:0008890|Severe short-limb dwarfism;HP:0100790|Hernia;HP:0001252|Muscular hypotonia;HP:0002983|Micromelia;HP:0000940|Abnormal diaphysis morphology
ringed hair disease	HP:0010720|Abnormal hair pattern;HP:0002213|Fine hair
multiple epiphyseal dysplasia, lowry type	HP:0000455|Broad nasal tip;HP:0003071|Flattened epiphysis;HP:0000175|Cleft palate;HP:0000347|Micrognathia;HP:0000582|Upslanted palpebral fissure;HP:0011849|Abnormal bone ossification;HP:0002650|Scoliosis;HP:0003042|Elbow dislocation;HP:0002656|Epiphyseal dysplasia;HP:0000316|Hypertelorism;HP:0002857|Genu valgum;HP:0008905|Rhizomelia
progressive epilepsy-intellectual disability syndrome, finnish type	HP:0002353|EEG abnormality;HP:0000708|Behavioral abnormality;HP:0002384|Focal seizures with impairment of consciousness or awareness;HP:0001268|Mental deterioration;HP:0002312|Clumsiness;HP:0000709|Psychosis;HP:0002376|Developmental regression;HP:0000529|Progressive visual loss;HP:0002069|Generalized tonic-clonic seizures;HP:0000711|Restlessness;HP:0001249|Intellectual disability
intellectual disability-sparse hair-brachydactyly syndrome	HP:0001263|Global developmental delay;HP:0000028|Cryptorchidism;HP:0002133|Status epilepticus;HP:0002553|Highly arched eyebrow;HP:0001006|Hypotrichosis;HP:0000581|Blepharophimosis;HP:0010720|Abnormal hair pattern;HP:0030680|Abnormality of cardiovascular system morphology;HP:0012745|Short palpebral fissure;HP:0000527|Long eyelashes;HP:0100760|Clubbing of toes;HP:0000233|Thin vermilion border;HP:0001373|Joint dislocation;HP:0005930|Abnormality of epiphysis morphology;HP:0000232|Everted lower lip vermilion;HP:0001156|Brachydactyly syndrome;HP:0007392|Excessive wrinkled skin;HP:0000154|Wide mouth;HP:0000343|Long philtrum;HP:0001852|Sandal gap;HP:0004279|Short palm;HP:0000494|Downslanted palpebral fissures;HP:0001250|Seizures;HP:0001163|Abnormality of the metacarpal bones;HP:0000252|Microcephaly;HP:0002650|Scoliosis;HP:0000319|Smooth philtrum;HP:0002300|Mutism;HP:0009928|Thick nasal alae;HP:0007665|Curly eyelashes;HP:0010529|Echolalia;HP:0001249|Intellectual disability;HP:0002705|High, narrow palate;HP:0001167|Abnormality of finger;HP:0006610|Wide intermamillary distance;HP:0009836|Broad distal phalanx of finger;HP:0005616|Accelerated skeletal maturation;HP:0001596|Alopecia;HP:0003510|Severe short stature;HP:0002357|Dysphasia;HP:0000463|Anteverted nares;HP:0011097|Epileptic spasms;HP:0002750|Delayed skeletal maturation;HP:0000325|Triangular face;HP:0001328|Specific learning disability;HP:0000964|Eczema;HP:0002121|Absence seizures;HP:0000446|Narrow nasal bridge;HP:0100790|Hernia;HP:0002381|Aphasia;HP:0000035|Abnormality of the testis
isotretinoin syndrome	HP:0001800|Hypoplastic toenails;HP:0000175|Cleft palate;HP:0000347|Micrognathia;HP:0000356|Abnormality of the outer ear;HP:0005280|Depressed nasal bridge;HP:0100543|Cognitive impairment;HP:0003298|Spina bifida occulta;HP:0004422|Biparietal narrowing;HP:0000960|Sacral dimple;HP:0001252|Muscular hypotonia;HP:0001315|Reduced tendon reflexes;HP:0008551|Microtia
hypertrichosis, congenital anterior cervical, with peripheral sensory	HP:0002754|Bone infection;HP:0004535|Hypertrichosis, congenital anterior cervical;HP:0007178|Motor polyneuropathy;HP:0000763|Sensory neuropathy
dahlberg-borer-newcomer syndrome	HP:0001634|Mitral valve prolapse;HP:0000829|Hypoparathyroidism;HP:0000506|Telecanthus;HP:0000518|Cataract;HP:0000966|Hypohidrosis;HP:0001798|Anonychia;HP:0002901|Hypocalcemia;HP:0004322|Short stature;HP:0009882|Short distal phalanx of finger;HP:0000112|Nephropathy;HP:0001072|Thickened skin;HP:0001156|Brachydactyly syndrome;HP:0002230|Generalized hirsutism;HP:0000431|Wide nasal bridge;HP:0001004|Lymphedema;HP:0000821|Hypothyroidism;HP:0000083|Renal insufficiency
adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia	HP:0003162|Fasting hypoglycemia;HP:0001250|Seizures;HP:0000975|Hyperhidrosis;HP:0000713|Agitation;HP:0002344|Progressive neurologic deterioration;HP:0000842|Hyperinsulinemia;HP:0012378|Fatigue;HP:0001254|Lethargy;HP:0001259|Coma;HP:0001337|Tremor;HP:0001985|Hypoketotic hypoglycemia;HP:0002329|Drowsiness;HP:0004324|Increased body weight;HP:0003324|Generalized muscle weakness;HP:0012051|Reactive hypoglycemia;HP:0001649|Tachycardia;HP:0000825|Hyperinsulinemic hypoglycemia;HP:0004510|Pancreatic islet-cell hyperplasia;HP:0000980|Pallor;HP:0002315|Headache;HP:0001249|Intellectual disability
gamma-glutamylcysteine synthetase deficiency, hemolytic anemia dueto	HP:0001271|Polyneuropathy;HP:0001939|Laboratory abnormality;HP:0006904|Late-onset spinocerebellar degeneration;HP:0003198|Myopathic changes;HP:0001878|Haemolytic anaemia
alopecia-mental retardation syndrome with convulsions and hypergonadotropichypogonadism	HP:0001596|Hair loss;HP:0001250|Seizures;HP:0001939|Laboratory abnormality;HP:0002224|Woolly hair;HP:0008734|Decreased testicular size;HP:0000815|Primary hypogonadism;HP:0001256|Mild mental retardation;HP:0000054|Short penis;HP:0002069|Generalized tonic clonic seizures
microcephaly-lymphedema-chorioretinopathy syndrome	HP:0001263|Global developmental delay;HP:0002202|Pleural effusion;HP:0000492|Abnormality of the eyelid;HP:0000568|Microphthalmia;HP:0000518|Cataract;HP:0040189|Scaling skin;HP:0000307|Pointed chin;HP:0000646|Amblyopia;HP:0000541|Retinal detachment;HP:0000545|Myopia;HP:0002133|Status epilepticus;HP:0003552|Muscle stiffness;HP:0001482|Subcutaneous nodule;HP:0000587|Abnormality of the optic nerve;HP:0000572|Visual loss;HP:0007973|Retinal dysplasia;HP:0001004|Lymphedema;HP:0000445|Wide nose;HP:0000508|Ptosis;HP:0001631|Atrial septal defect;HP:0001055|Erysipelas;HP:0001257|Spasticity;HP:0000582|Upslanted palpebral fissure;HP:0007731|Chorioretinal dysplasia;HP:0000618|Blindness;HP:0001909|Leukemia;HP:0000343|Long philtrum;HP:0200042|Skin ulcer;HP:0012471|Thick vermilion border;HP:0001276|Hypertonia;HP:0000478|Abnormality of the eye;HP:0008388|Abnormality of the toenails;HP:0001250|Seizures;HP:0010310|Chylothorax;HP:0000286|Epicanthus;HP:0002665|Lymphoma;HP:0004936|Venous thrombosis;HP:0000293|Full cheeks;HP:0000252|Microcephaly;HP:0000528|Anophthalmia;HP:0002063|Rigidity;HP:0001820|Leukonychia;HP:0000648|Optic atrophy;HP:0007703|Abnormality of retinal pigmentation;HP:0001595|Abnormality of the hair;HP:0000431|Wide nasal bridge;HP:0001249|Intellectual disability;HP:0000556|Retinal dystrophy;HP:0000411|Protruding ear;HP:0100658|Cellulitis;HP:0000504|Abnormality of vision;HP:0000958|Dry skin;HP:0003510|Severe short stature;HP:0012490|Panniculitis;HP:0000488|Retinopathy;HP:0000463|Anteverted nares;HP:0001328|Specific learning disability;HP:0009891|Underdeveloped supraorbital ridges;HP:0100644|Melanonychia;HP:0100758|Gangrene;HP:0000499|Abnormality of the eyelashes;HP:0001252|Muscular hypotonia;HP:0000340|Sloping forehead;HP:0000501|Glaucoma;HP:0000614|Abnormality of the nasolacrimal system;HP:0001072|Thickened skin;HP:0000969|Edema
focal palmoplantar and gingival keratoderma	HP:0001597|Abnormality of the nail;HP:0000975|Hyperhidrosis;HP:0008392|Subungual hyperkeratosis;HP:0008399|Circumungual hyperkeratosis;HP:0007497|Focal friction-related palmoplantar hyperkeratosis;HP:0000212|Gingival overgrowth;HP:0000222|Gingival hyperkeratosis;HP:0001231|Abnormality of the fingernails;HP:0000982|Palmoplantar keratoderma
49,xxxyy syndrome	HP:0001263|Global developmental delay;HP:0000744|Low frustration tolerance;HP:0002788|Recurrent upper respiratory tract infections;HP:0002119|Ventriculomegaly;HP:0008734|Decreased testicular size;HP:0040171|Decreased serum testosterone level;HP:0001776|Bilateral talipes equinovarus;HP:0000750|Delayed speech and language development;HP:0000347|Micrognathia;HP:0000303|Mandibular prognathia;HP:0000316|Hypertelorism;HP:0000837|Increased circulating gonadotropin level;HP:0000774|Narrow chest;HP:0010506|Abnormal plantar dermatoglyphics;HP:0000062|Ambiguous genitalia;HP:0040019|Finger clinodactyly;HP:0000708|Behavioral abnormality;HP:0000286|Epicanthus;HP:0000771|Gynecomastia;HP:0003241|External genital hypoplasia;HP:0000026|Male hypogonadism;HP:0000729|Autistic behavior;HP:0011343|Moderate global developmental delay;HP:0001999|Abnormal facial shape;HP:0000431|Wide nasal bridge;HP:0045058|Abnormality of the testis size;HP:0001249|Intellectual disability;HP:0011220|Prominent forehead;HP:0003782|Eunuchoid habitus;HP:0002750|Delayed skeletal maturation;HP:0008193|Primary gonadal insufficiency;HP:0000368|Low-set, posteriorly rotated ears;HP:0002500|Abnormality of the cerebral white matter;HP:0000054|Micropenis
x-linked ehlers-danlos syndrome	HP:0002020|Gastroesophageal reflux;HP:0000963|Thin skin;HP:0001537|Umbilical hernia;HP:0002564|Malformation of the heart and great vessels;HP:0004322|Short stature;HP:0005692|Joint hyperflexibility;HP:0000978|Bruising susceptibility;HP:0100790|Hernia;HP:0000974|Hyperextensible skin;HP:0000023|Inguinal hernia
ehlers-danlos syndrome, fibronectinemic type	HP:0000974|Hyperextensible skin;HP:0001872|Abnormality of thrombocytes;HP:0005692|Joint hyperflexibility
vitamin b12-unresponsive methylmalonic acidemia	HP:0001263|Global developmental delay;HP:0001733|Pancreatitis;HP:0001987|Hyperammonemia;HP:0002385|Paraparesis;HP:0001266|Choreoathetosis;HP:0000083|Renal insufficiency;HP:0001251|Ataxia;HP:0001873|Thrombocytopenia;HP:0001882|Leukopenia;HP:0001254|Lethargy;HP:0002167|Neurological speech impairment;HP:0002017|Nausea and vomiting;HP:0001944|Dehydration;HP:0001903|Anemia;HP:0001250|Seizures;HP:0002093|Respiratory insufficiency;HP:0001259|Coma;HP:0001972|Macrocytic anemia;HP:0000648|Optic atrophy;HP:0002240|Hepatomegaly;HP:0001638|Cardiomyopathy;HP:0001249|Intellectual disability;HP:0002721|Immunodeficiency;HP:0001252|Muscular hypotonia;HP:0002273|Tetraparesis
cleft larynx, posteriorstridor, congenital, included	HP:0002835|Aspiration;HP:0000961|Cyanosis;HP:0006511|Laryngeal stridor;HP:0001608|Voice abnormality
familial papillary thyroid carcinoma with renal papillary neoplasia	HP:0012288|Neoplasm of head and neck;HP:0000853|Goiter;HP:0002730|Chronic noninfectious lymphadenopathy;HP:0006528|Chronic lung disease;HP:0002895|Papillary thyroid carcinoma;HP:0011798|Renal oncocytoma;HP:0002757|Recurrent fractures;HP:0006735|Renal cortical adenoma;HP:0005994|Nodular goiter;HP:0002733|Abnormality of the lymph nodes;HP:0006766|Papillary renal cell carcinoma;HP:3000037|Abnormality of neck blood vessel;HP:0003002|Breast carcinoma;HP:0003003|Colon cancer
familial median cleft of the upper and lower lips	HP:3000010|Abnormality of orbicularis oris muscle;HP:0000699|Diastema;HP:0010281|Cleft lower lip;HP:0000161|Median cleft lip;HP:0040079|Irregular dentition;HP:0000277|Abnormality of the mandible;HP:0000204|Cleft upper lip;HP:0000326|Abnormality of the maxilla;HP:0000309|Abnormality of the midface;HP:0012292|Fusion of gums
talo-patello-scaphoid osteolysis	HP:0008095|Osteolysis of talus;HP:0006378|Osteolysis of patellae;HP:0100769|Synovitis;HP:0010044|Short 4th metacarpal;HP:0006202|Osteolysis of scaphoids;HP:0003037|Enlarged joints
x-linked intellectual disability, cilliers type	HP:0000028|Cryptorchidism;HP:0000815|Hypergonadotropic hypogonadism;HP:0011999|Paranoia;HP:0004322|Short stature;HP:0000336|Prominent supraorbital ridges;HP:0008734|Decreased testicular size;HP:0040171|Decreased serum testosterone level;HP:0000047|Hypospadias;HP:0000490|Deeply set eye;HP:0000837|Increased circulating gonadotropin level;HP:0001256|Intellectual disability, mild;HP:0000026|Male hypogonadism;HP:0000252|Microcephaly;HP:0008187|Absence of secondary sex characteristics;HP:0000709|Psychosis;HP:0001999|Abnormal facial shape;HP:0001508|Failure to thrive;HP:0004209|Clinodactyly of the 5th finger;HP:0200055|Small hand;HP:0001792|Small nail;HP:0000426|Prominent nasal bridge;HP:0100962|Shyness;HP:0002750|Delayed skeletal maturation;HP:0000400|Macrotia;HP:0004440|Coronal craniosynostosis
11q22.2q22.3 microdeletion syndrome	HP:0001263|Global developmental delay;HP:0002421|Poor head control;HP:0002079|Hypoplasia of the corpus callosum;HP:0012448|Delayed myelination;HP:0000545|Myopia;HP:0000722|Obsessive-compulsive behavior;HP:0000358|Posteriorly rotated ears;HP:0005280|Depressed nasal bridge;HP:0000953|Hyperpigmentation of the skin;HP:0000508|Ptosis;HP:0001260|Dysarthria;HP:0001156|Brachydactyly syndrome;HP:0000750|Delayed speech and language development;HP:0007598|Bilateral single transverse palmar creases;HP:0000347|Micrognathia;HP:0012433|Abnormal social behavior;HP:0000369|Low-set ears;HP:0000486|Strabismus;HP:0000574|Thick eyebrow;HP:0000739|Anxiety;HP:0000736|Short attention span;HP:0011968|Feeding difficulties;HP:0001028|Hemangioma;HP:0001773|Short foot;HP:0001256|Intellectual disability, mild;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000708|Behavioral abnormality;HP:0002307|Drooling;HP:0007018|Attention deficit hyperactivity disorder;HP:0004209|Clinodactyly of the 5th finger;HP:0002194|Delayed gross motor development;HP:0200055|Small hand;HP:0002705|High, narrow palate;HP:0000341|Narrow forehead;HP:0001513|Obesity;HP:0000219|Thin upper lip vermilion;HP:0012758|Neurodevelopmental delay;HP:0000753|Autism with high cognitive abilities;HP:0000817|Poor eye contact;HP:0030190|Oral motor hypotonia;HP:0001252|Muscular hypotonia;HP:0200034|Papule;HP:0011368|Epidermal thickening
sporadic fetal brain disruption sequence	HP:0001357|Plagiocephaly;HP:0000834|Abnormality of the adrenal glands;HP:0001257|Spasticity;HP:0010864|Intellectual disability, severe;HP:0000269|Prominent occiput;HP:0000252|Microcephaly;HP:0002120|Cerebral cortical atrophy;HP:0010515|Aplasia/Hypoplasia of the thymus;HP:0011344|Severe global developmental delay;HP:0006887|Intellectual disability, progressive
lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy	HP:0002216|Premature graying of hair;HP:0000535|Sparse eyebrow;HP:0004416|Precocious atherosclerosis;HP:0012378|Fatigue;HP:0100585|Telangiectasia of the skin;HP:0001659|Aortic regurgitation;HP:0000233|Thin vermilion border;HP:0007495|Prematurely aged appearance;HP:0000767|Pectus excavatum;HP:0009938|Sunken cheeks;HP:0001997|Gout;HP:0000963|Thin skin;HP:0001688|Sinus bradycardia;HP:0009064|Generalized lipodystrophy;HP:0003074|Hyperglycemia;HP:0003712|Skeletal muscle hypertrophy;HP:0005328|Progeroid facial appearance;HP:0000774|Narrow chest;HP:0001639|Hypertrophic cardiomyopathy;HP:0002155|Hypertriglyceridemia;HP:0004380|Aortic valve calcification;HP:0008283|Fasting hyperinsulinemia;HP:0005978|Type II diabetes mellitus;HP:0004361|Abnormality of circulating leptin level;HP:0000842|Hyperinsulinemia;HP:0003076|Glycosuria;HP:0001397|Hepatic steatosis;HP:0002240|Hepatomegaly;HP:0004359|Abnormality of fatty-acid metabolism;HP:0002616|Aortic root dilatation;HP:0000348|High forehead;HP:0001015|Prominent superficial veins;HP:0001034|Hypermelanotic macule;HP:0008981|Calf muscle hypertrophy;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0200034|Papule;HP:0000831|Insulin-resistant diabetes mellitus;HP:0007509|Patchy hypo- and hyperpigmentation
hirsutism-skeletal dysplasia-intellectual disability syndrome	HP:0000520|Proptosis;HP:0002777|Tracheal stenosis;HP:0000768|Pectus carinatum;HP:0100818|Long thorax;HP:0000248|Brachycephaly;HP:0002645|Wormian bones;HP:0000232|Everted lower lip vermilion;HP:0000347|Micrognathia;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0009906|Aplasia/Hypoplasia of the earlobes;HP:0000774|Narrow chest;HP:0000494|Downslanted palpebral fissures;HP:0000889|Abnormality of the clavicle;HP:0000286|Epicanthus;HP:0000483|Astigmatism;HP:0009623|Proximal placement of thumb;HP:0002230|Generalized hirsutism;HP:0002149|Hyperuricemia;HP:0000431|Wide nasal bridge;HP:0009811|Abnormality of the elbow;HP:0001249|Intellectual disability;HP:0000364|Hearing abnormality;HP:0000174|Abnormality of the palate;HP:0001231|Abnormality of the fingernails;HP:0002673|Coxa valga
renal-genital-middle ear anomalies	HP:0000413|Atresia of the external auditory canal;HP:0000632|Lacrimation abnormality;HP:0008678|Renal hypoplasia/aplasia;HP:0000148|Vaginal atresia;HP:0000347|Micrognathia;HP:0001537|Umbilical hernia;HP:0003196|Short nose;HP:0004452|Abnormality of the middle ear ossicles;HP:0000444|Convex nasal ridge;HP:0000545|Myopia;HP:0001163|Abnormality of the metacarpal bones;HP:0000365|Hearing impairment;HP:0003298|Spina bifida occulta;HP:0000368|Low-set, posteriorly rotated ears;HP:0006482|Abnormality of dental morphology;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0000174|Abnormality of the palate;HP:0004209|Clinodactyly of the 5th finger;HP:0001631|Atrial septal defect;HP:0004397|Ectopic anus;HP:0001305|Dandy-Walker malformation
arrhinia-choanal atresia-microphthalmia syndrome	HP:0000044|Hypogonadotrophic hypogonadism;HP:0000632|Lacrimation abnormality;HP:0011800|Midface retrusion;HP:0000175|Cleft palate;HP:0000568|Microphthalmia;HP:0009924|Aplasia/Hypoplasia involving the nose;HP:0000453|Choanal atresia;HP:0000316|Hypertelorism;HP:0000218|High palate;HP:0009804|Reduced number of teeth;HP:0004408|Abnormality of the sense of smell;HP:0000023|Inguinal hernia
familial nasal acilia	HP:0002094|Dyspnea;HP:0100750|Atelectasis;HP:0002110|Bronchiectasis;HP:0002257|Chronic rhinitis;HP:0002788|Recurrent upper respiratory tract infections;HP:0002098|Respiratory distress;HP:0011109|Chronic sinusitis
x-linked intellectual disability-retinitis pigmentosa syndrome	HP:0007730|Iris hypopigmentation;HP:0001249|Intellectual disability
leukoencephalopathy with bilateral anterior temporal lobe cysts	HP:0001263|Global developmental delay
grubben-de cock-borghgraef syndrome	HP:0001263|Global developmental delay;HP:0001250|Seizures;HP:0000470|Short neck;HP:0000958|Dry skin;HP:0000496|Abnormality of eye movement;HP:0200055|Small hand;HP:0000592|Blue sclerae;HP:0000164|Abnormality of the teeth;HP:0000964|Eczema;HP:0001252|Muscular hypotonia;HP:0001315|Reduced tendon reflexes;HP:0004097|Deviation of finger;HP:0000311|Round face;HP:0001338|Partial agenesis of the corpus callosum;HP:0000750|Delayed speech and language development
alopecia-contractures-dwarfism-intellectual disability syndrome	HP:0000262|Turricephaly;HP:0011039|Abnormality of the helix;HP:0000682|Abnormality of dental enamel;HP:0000545|Myopia;HP:0001156|Brachydactyly syndrome;HP:0000582|Upslanted palpebral fissure;HP:0006101|Finger syndactyly;HP:0000316|Hypertelorism;HP:0001511|Intrauterine growth retardation;HP:0008388|Abnormality of the toenails;HP:0000924|Abnormality of the skeletal system;HP:0000962|Hyperkeratosis;HP:0009738|Abnormality of the antihelix;HP:0000966|Hypohidrosis;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0005819|Short middle phalanx of finger;HP:0002808|Kyphosis;HP:0008070|Sparse hair;HP:0000448|Prominent nose;HP:0004209|Clinodactyly of the 5th finger;HP:0009811|Abnormality of the elbow;HP:0001249|Intellectual disability;HP:0008855|Moderate postnatal growth retardation;HP:0001596|Alopecia;HP:0003422|Vertebral segmentation defect;HP:0003510|Severe short stature;HP:0005048|Synostosis of carpal bones;HP:0001387|Joint stiffness;HP:0002827|Hip dislocation;HP:0004422|Biparietal narrowing;HP:0000400|Macrotia;HP:0000368|Low-set, posteriorly rotated ears;HP:0006887|Intellectual disability, progressive;HP:0008064|Ichthyosis
subaortic stenosis-short stature syndrome	HP:0000639|Nystagmus;HP:0001061|Acne;HP:0000470|Short neck;HP:0000568|Microphthalmia;HP:0004322|Short stature;HP:0008777|Abnormality of the vocal cords;HP:0007598|Bilateral single transverse palmar creases;HP:0000347|Micrognathia;HP:0003119|Abnormality of lipid metabolism;HP:0005978|Type II diabetes mellitus;HP:0000286|Epicanthus;HP:0002093|Respiratory insufficiency;HP:0001608|Abnormality of the voice;HP:0002650|Scoliosis;HP:0011675|Arrhythmia;HP:0001080|Biliary tract abnormality;HP:0001682|Subaortic stenosis;HP:0002808|Kyphosis;HP:0005174|Membranous subvalvular aortic stenosis;HP:0000023|Inguinal hernia;HP:0001249|Intellectual disability;HP:0000691|Microdontia;HP:0001513|Obesity;HP:0005048|Synostosis of carpal bones;HP:0000463|Anteverted nares;HP:0000368|Low-set, posteriorly rotated ears
thiemann disease, familial form	HP:0001376|Limitation of joint mobility;HP:0005930|Abnormality of epiphysis morphology;HP:0010885|Aseptic necrosis;HP:0000944|Abnormality of the metaphyses;HP:0001156|Brachydactyly syndrome
spondyloepiphyseal dysplasia, cantu type	HP:0000028|Cryptorchidism;HP:0000470|Short neck;HP:0000581|Blepharophimosis;HP:0004322|Short stature;HP:0009103|Aplasia/Hypoplasia involving the pelvis;HP:0002164|Nail dysplasia;HP:0005280|Depressed nasal bridge;HP:0000767|Pectus excavatum;HP:0010306|Short thorax;HP:0001832|Abnormality of the metatarsal bones;HP:0001156|Brachydactyly syndrome;HP:0008839|Hypoplastic pelvis;HP:0005069|Rhizo-meso-acromelic limb shortening;HP:0000215|Thick upper lip vermilion;HP:0000582|Upslanted palpebral fissure;HP:0000154|Wide mouth;HP:0000343|Long philtrum;HP:0000574|Thick eyebrow;HP:0011829|Narrow philtrum;HP:0008496|Multiple rows of eyelashes;HP:0005622|Broad long bones;HP:0000306|Abnormality of the chin;HP:0009937|Facial hirsutism;HP:0001608|Abnormality of the voice;HP:0002212|Curly hair;HP:0000431|Wide nasal bridge;HP:0100625|Enlarged thorax;HP:0007665|Curly eyelashes;HP:0002162|Low posterior hairline;HP:0000179|Thick lower lip vermilion;HP:0004634|Cuboid-shaped vertebral bodies;HP:0002967|Cubitus valgus;HP:0002750|Delayed skeletal maturation;HP:0000463|Anteverted nares;HP:0006394|Limited pronation/supination of forearm;HP:0000174|Abnormality of the palate;HP:0008551|Microtia;HP:0000475|Broad neck;HP:0003026|Short long bone
maternal uniparental disomy of chromosome 9	HP:0040188|Osteochondrosis;HP:0001263|Global developmental delay;HP:0000470|Short neck;HP:0000324|Facial asymmetry;HP:0000347|Micrognathia;HP:0001558|Decreased fetal movement;HP:0001795|Hyperconvex nail;HP:0002751|Kyphoscoliosis;HP:0003070|Elbow ankylosis;HP:0000369|Low-set ears;HP:0000276|Long face;HP:0000545|Myopia;HP:0003468|Abnormality of the vertebrae;HP:0000851|Congenital hypothyroidism;HP:0002546|Incomprehensible speech;HP:0007973|Retinal dysplasia;HP:0003089|Hamstring contractures;HP:0001508|Failure to thrive;HP:0001511|Intrauterine growth retardation;HP:0002999|Patellar dislocation;HP:0011968|Feeding difficulties
late-onset isolated acth deficiency	HP:0002920|Decreased circulating ACTH level;HP:0001587|Primary ovarian failure;HP:0011748|Adrenocorticotropic hormone deficiency;HP:0012378|Fatigue;HP:0001278|Orthostatic hypotension;HP:0001045|Vitiligo;HP:0002019|Constipation;HP:0002027|Abdominal pain;HP:0001824|Weight loss;HP:0002960|Autoimmunity;HP:0002608|Celiac disease;HP:0100806|Sepsis;HP:0100647|Graves disease;HP:0006462|Generalized bone demineralization;HP:0002829|Arthralgia;HP:0001254|Lethargy;HP:0002014|Diarrhea;HP:0002902|Hyponatremia;HP:0002615|Hypotension;HP:0002017|Nausea and vomiting;HP:0000872|Hashimoto thyroiditis;HP:0001943|Hypoglycemia;HP:0100651|Type I diabetes mellitus;HP:0001250|Seizures;HP:0002893|Pituitary adenoma;HP:0011735|Adrenocorticotropin deficient adrenal insufficiency;HP:0011134|Low-grade fever;HP:0001897|Normocytic anemia;HP:0001508|Failure to thrive;HP:0001972|Macrocytic anemia;HP:0002153|Hyperkalemia;HP:0002149|Hyperuricemia;HP:0003072|Hypercalcemia;HP:0002321|Vertigo;HP:0000829|Hypoparathyroidism;HP:0000958|Dry skin;HP:0001324|Muscle weakness;HP:0008220|Hypocortisolemia;HP:0012115|Hepatitis;HP:0002039|Anorexia;HP:0001880|Eosinophilia
maternal uniparental disomy of chromosome 6	HP:0000034|Hydrocele testis;HP:0003100|Slender long bone;HP:0000175|Cleft palate;HP:0002805|Accelerated bone age after puberty;HP:0001873|Thrombocytopenia;HP:0002721|Immunodeficiency;HP:0030088|Increased serum testosterone level;HP:0005268|Spontaneous abortion;HP:0008665|Clitoral hypertrophy;HP:0000510|Rod-cone dystrophy;HP:0002119|Ventriculomegaly;HP:0000325|Triangular face;HP:0000204|Cleft upper lip;HP:0008258|Congenital adrenal hyperplasia;HP:0000964|Eczema;HP:0001511|Intrauterine growth retardation;HP:0000529|Progressive visual loss;HP:0002194|Delayed gross motor development;HP:0000023|Inguinal hernia;HP:0000512|Abnormal electroretinogram;HP:0001249|Intellectual disability
nystagmus, congenital motor, autosomal recessive	HP:0006934|Congenital nystagmus
coloboma, ocular, autosomal recessive	HP:0000505|Poor vision;HP:0000577|Exotropia;HP:0001132|Lens subluxation;HP:0007663|Central visual loss;HP:0000589|Ocular coloboma;HP:0000565|Inward turning of one or both eyes
spondyloepiphyseal dysplasia, nishimura type	HP:0003071|Flattened epiphysis;HP:0001263|Global developmental delay;HP:0002879|Anisospondyly;HP:0000470|Short neck;HP:0001238|Slender finger;HP:0000568|Microphthalmia;HP:0003366|Abnormality of the femoral neck or head region;HP:0000518|Cataract;HP:0003196|Short nose;HP:0000541|Retinal detachment;HP:0000545|Myopia;HP:0000248|Brachycephaly;HP:0000218|High palate;HP:0005280|Depressed nasal bridge;HP:0100558|Hemiatrophy of upper limb;HP:0010471|Oligosacchariduria;HP:0011329|Abnormality of cranial sutures;HP:0000347|Micrognathia;HP:0002007|Frontal bossing;HP:0008783|Wide proximal femoral metaphysis;HP:0007894|Hypopigmentation of the fundus;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0000774|Narrow chest;HP:0002714|Downturned corners of mouth;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0011849|Abnormal bone ossification;HP:0011001|Increased bone mineral density;HP:0002942|Thoracic kyphosis;HP:0003180|Flat acetabular roof;HP:0000260|Wide anterior fontanel;HP:0000926|Platyspondyly;HP:0009811|Abnormality of the elbow;HP:0003300|Ovoid vertebral bodies;HP:0006454|Delayed patellar ossification;HP:0000463|Anteverted nares;HP:0000637|Long palpebral fissure;HP:0011326|Anterior plagiocephaly;HP:0002693|Abnormality of the skull base;HP:0002673|Coxa valga
paternal uniparental disomy of chromosome 5	HP:0004991|Rhizomelic arm shortening;HP:0001263|Global developmental delay;HP:0002654|Multiple epiphyseal dysplasia;HP:0002751|Kyphoscoliosis;HP:0001090|Large eyes;HP:0100753|Schizophrenia;HP:0006385|Short lower limbs;HP:0010593|Abnormality of fibular epiphyses;HP:0001290|Generalized hypotonia;HP:0001684|Secundum atrial septal defect;HP:0011327|Posterior plagiocephaly;HP:0000075|Renal duplication;HP:0001561|Polyhydramnios
maternal uniparental disomy of chromosome 1	HP:0000639|Nystagmus;HP:0000518|Cataract;HP:0004322|Short stature;HP:0002119|Ventriculomegaly;HP:0000365|Hearing impairment;HP:0000954|Single transverse palmar crease;HP:0001251|Ataxia;HP:0002813|Abnormality of limb bone morphology;HP:0002191|Progressive spasticity;HP:0002719|Recurrent infections;HP:0002714|Downturned corners of mouth;HP:0008066|Abnormal blistering of the skin;HP:0001510|Growth delay;HP:0011968|Feeding difficulties;HP:0001876|Pancytopenia;HP:0002020|Gastroesophageal reflux;HP:0001250|Seizures;HP:0100651|Type I diabetes mellitus;HP:0000319|Smooth philtrum;HP:0001508|Failure to thrive;HP:0002240|Hepatomegaly;HP:0007272|Progressive psychomotor deterioration;HP:0001476|Delayed closure of the anterior fontanelle;HP:0001319|Neonatal hypotonia;HP:0000717|Autism;HP:0001883|Talipes;HP:0010655|Epiphyseal stippling;HP:0009909|Uplifted earlobe;HP:0003139|Panhypogammaglobulinemia
20q13.33 microdeletion syndrome	HP:0000520|Proptosis;HP:0002079|Hypoplasia of the corpus callosum;HP:0002553|Highly arched eyebrow;HP:0001562|Oligohydramnios;HP:0000233|Thin vermilion border;HP:0000460|Narrow nose;HP:0002573|Hematochezia;HP:0001631|Atrial septal defect;HP:0000750|Delayed speech and language development;HP:0000047|Hypospadias;HP:0001713|Abnormality of cardiac ventricle;HP:0000582|Upslanted palpebral fissure;HP:0002813|Abnormality of limb bone morphology;HP:0001762|Talipes equinovarus;HP:0001531|Failure to thrive in infancy;HP:0000316|Hypertelorism;HP:0000960|Sacral dimple;HP:0006709|Aplasia/Hypoplasia of the nipples;HP:0012304|Hypoplastic aortic arch;HP:0002188|Delayed CNS myelination;HP:0001510|Growth delay;HP:0000494|Downslanted palpebral fissures;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000729|Autistic behavior;HP:0009899|Prominent crus of helix;HP:0001822|Hallux valgus;HP:0001518|Small for gestational age;HP:0012858|Decreased scrotal rugation;HP:0000319|Smooth philtrum;HP:0001182|Tapered finger;HP:0006385|Short lower limbs;HP:0001249|Intellectual disability;HP:0000341|Narrow forehead;HP:0012758|Neurodevelopmental delay;HP:0000297|Facial hypotonia;HP:0002827|Hip dislocation;HP:0000325|Triangular face;HP:0000368|Low-set, posteriorly rotated ears;HP:0001763|Pes planus;HP:0001252|Muscular hypotonia;HP:0000414|Bulbous nose;HP:0012520|Perivascular spaces
pituitary dermoid and epidermoid cysts	HP:0000798|Oligospermia;HP:0002331|Recurrent paroxysmal headache;HP:0001287|Meningitis;HP:0001117|Sudden loss of visual acuity;HP:0030907|Thunderclap headache;HP:0012505|Enlarged pituitary gland;HP:0000135|Hypogonadism;HP:0000876|Oligomenorrhea;HP:0010514|Hyperpituitarism;HP:0011730|Abnormality of central sensory function;HP:0002017|Nausea and vomiting;HP:0000871|Panhypopituitarism;HP:0001250|Seizures;HP:0100829|Galactorrhea;HP:0000651|Diplopia;HP:0000830|Anterior hypopituitarism;HP:0001959|Polydipsia;HP:0011750|Neoplasm of the anterior pituitary;HP:0000141|Amenorrhea;HP:0000870|Prolactin excess;HP:0010885|Aseptic necrosis;HP:0011442|Abnormality of central motor function;HP:0003324|Generalized muscle weakness;HP:0007663|Reduced visual acuity
pseudoleprechaunism syndrome, patterson type	HP:0012767|Abnormal placental size;HP:0010864|Intellectual disability, severe;HP:0430028|Hyperplasia of the maxilla;HP:0007574|Generalized bronze hyperpigmentation;HP:0001176|Large hands;HP:0030348|Increased circulating androgen level;HP:0001833|Long foot;HP:0000015|Bladder diverticulum;HP:0001511|Intrauterine growth retardation;HP:0012412|Premature adrenarche;HP:0003310|Abnormality of the odontoid process;HP:0002751|Kyphoscoliosis;HP:0001386|Joint swelling;HP:0430005|Abnormality of ethmoid bone;HP:0007517|Palmoplantar cutis laxa;HP:0003180|Flat acetabular roof;HP:0010819|Atonic seizures;HP:0000448|Prominent nose;HP:0002069|Generalized tonic-clonic seizures;HP:0002857|Genu valgum;HP:0004979|Metaphyseal sclerosis;HP:0008788|Delayed pubic bone ossification;HP:0002750|Delayed skeletal maturation;HP:0000819|Diabetes mellitus;HP:0006505|Abnormality of limb epiphysis morphology;HP:3000077|Abnormality of mandible condylar process;HP:0000400|Macrotia;HP:0001007|Hirsutism;HP:0002684|Thickened calvaria
panniculitis and localized lipodystrophy	HP:0010783|Erythema;HP:0010701|Abnormal immunoglobulin level;HP:0200029|Vasculitis in the skin;HP:0003493|Antinuclear antibody positivity;HP:0003758|Reduced subcutaneous adipose tissue;HP:0007485|Absence of subcutaneous fat;HP:0011123|Inflammatory abnormality of the skin;HP:0200036|Skin nodule;HP:0100578|Lipoatrophy
maternal uniparental disomy of chromosome 2	HP:0001263|Global developmental delay;HP:0001587|Primary ovarian failure;HP:0002089|Pulmonary hypoplasia;HP:0005781|Contractures of the large joints;HP:0004880|Respiratory infections in early life;HP:0001562|Oligohydramnios;HP:0000824|Growth hormone deficiency;HP:0008897|Postnatal growth retardation;HP:0008440|C1-C2 vertebral abnormality;HP:0002643|Neonatal respiratory distress;HP:0000083|Renal insufficiency;HP:0000047|Hypospadias;HP:0002652|Skeletal dysplasia;HP:0001511|Intrauterine growth retardation;HP:0001177|Preaxial hand polydactyly;HP:0005268|Spontaneous abortion;HP:0008689|Bilateral cryptorchidism;HP:0001622|Premature birth;HP:0004209|Clinodactyly of the 5th finger;HP:0003028|Abnormality of the ankles;HP:0000110|Renal dysplasia;HP:0004639|Elevated amniotic fluid alpha-fetoprotein;HP:0002721|Immunodeficiency;HP:0000041|Chordee;HP:0001763|Pes planus;HP:0000546|Retinal degeneration;HP:0001560|Abnormality of the amniotic fluid;HP:0000821|Hypothyroidism
wild type abeta2m amyloidosis	HP:0002239|Gastrointestinal hemorrhage;HP:0003043|Abnormality of the shoulder;HP:0002015|Dysphagia;HP:0012185|Constrictive median neuropathy;HP:0012531|Pain;HP:0001635|Congestive heart failure;HP:0003401|Paresthesia;HP:0012534|Dysesthesia;HP:0003447|Axonal loss;HP:0000158|Macroglossia;HP:0030833|Neck pain;HP:0005108|Abnormality of the intervertebral disk;HP:0005106|Abnormality of the vertebral endplates;HP:0030834|Shoulder pain;HP:0001227|Abnormality of the thenar eminence;HP:0002445|Tetraplegia;HP:0011675|Arrhythmia;HP:0007078|Decreased amplitude of sensory action potentials;HP:0003040|Arthropathy;HP:0000762|Decreased nerve conduction velocity;HP:0012062|Bone cyst;HP:0004389|Intestinal pseudo-obstruction;HP:0001369|Arthritis;HP:0100261|Abnormal tendon morphology;HP:0002242|Abnormality of the intestine;HP:0002273|Tetraparesis
aneurysm or dilatation of ascending aorta	HP:0005296|Occlusive vascular disease;HP:0001297|Stroke;HP:0003549|Abnormality of connective tissue;HP:0000978|Bruising susceptibility;HP:0001166|Arachnodactyly;HP:0001659|Aortic regurgitation;HP:0004954|Descending aortic aneurysm;HP:0004933|Ascending aortic dissection;HP:0001677|Coronary artery disease;HP:0002140|Ischemic stroke;HP:0005162|Left ventricular failure;HP:0000098|Tall stature;HP:0012763|Paroxysmal dyspnea;HP:0012163|Carotid artery aneurysm;HP:0002686|Prenatal maternal abnormality;HP:0005309|Peripheral vascular insufficiency;HP:0000822|Hypertension;HP:0002138|Subarachnoid hemorrhage;HP:0001640|Cardiomegaly;HP:0005315|Occlusive arterial disease;HP:0002647|Aortic dissection;HP:0002875|Exertional dyspnea;HP:0011106|Hypovolemia;HP:0004944|Cerebral aneurysm;HP:0002326|Transient ischemic attack;HP:0002631|Ascending aortic aneurysm;HP:0100749|Chest pain;HP:0004953|Abdominal aortic aneurysm
microtriplication 11q24.1	HP:0000470|Short neck;HP:0006316|Irregularly spaced teeth;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0009907|Attached earlobe;HP:0000358|Posteriorly rotated ears;HP:0000527|Long eyelashes;HP:0001373|Joint dislocation;HP:0001290|Generalized hypotonia;HP:0001376|Limitation of joint mobility;HP:0006951|Retrocerebellar cyst;HP:0000445|Wide nose;HP:0000563|Keratoconus;HP:0000750|Delayed speech and language development;HP:0000582|Upslanted palpebral fissure;HP:0001762|Talipes equinovarus;HP:0011822|Broad chin;HP:0000316|Hypertelorism;HP:0000574|Thick eyebrow;HP:0003763|Bruxism;HP:0001773|Short foot;HP:0001250|Seizures;HP:0002487|Hyperkinesis;HP:0000175|Cleft palate;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0000319|Smooth philtrum;HP:0003077|Hyperlipidemia;HP:0000664|Synophrys;HP:0001999|Abnormal facial shape;HP:0002857|Genu valgum;HP:0004209|Clinodactyly of the 5th finger;HP:0200055|Small hand;HP:0001249|Intellectual disability;HP:0000322|Short philtrum;HP:0011098|Speech apraxia;HP:0001513|Obesity;HP:0001840|Metatarsus adductus;HP:0000280|Coarse facial features
iatrogenic or traumatic pituitary deficiency	HP:0000044|Hypogonadotrophic hypogonadism;HP:0008245|Pituitary hypothyroidism;HP:0000863|Central diabetes insipidus;HP:0002920|Decreased circulating ACTH level;HP:0000141|Amenorrhea;HP:0000789|Infertility;HP:0040086|Abnormal prolactin level;HP:0012378|Fatigue;HP:0002750|Delayed skeletal maturation;HP:0000938|Osteopenia;HP:0002615|Hypotension;HP:0001943|Hypoglycemia;HP:0005625|Osteoporosis of vertebrae;HP:0000871|Panhypopituitarism;HP:0000824|Growth hormone deficiency;HP:0000823|Delayed puberty;HP:0008734|Decreased testicular size;HP:0010311|Aplasia/Hypoplasia of the breasts;HP:0009888|Abnormality of secondary sexual hair;HP:0001510|Growth delay
autoimmune polyendocrinopathy type 4	HP:0001973|Autoimmune thrombocytopenia;HP:0000863|Central diabetes insipidus;HP:0003613|Antiphospholipid antibody positivity;HP:0000815|Hypergonadotropic hypogonadism;HP:0012220|Non-caseating epithelioid cell granulomatosis;HP:0001045|Vitiligo;HP:0002960|Autoimmunity;HP:0002608|Celiac disease;HP:0000217|Xerostomia;HP:0100647|Graves disease;HP:0001970|Tubulointerstitial nephritis;HP:0010625|Anterior pituitary dysgenesis;HP:0010451|Aplasia/Hypoplasia of the spleen;HP:0001882|Leukopenia;HP:0005397|Exaggerated cellular immune processes;HP:0004313|Decreased antibody level in blood;HP:0000872|Hashimoto thyroiditis;HP:0008066|Abnormal blistering of the skin;HP:0100651|Type I diabetes mellitus;HP:0002582|Chronic atrophic gastritis;HP:0001094|Iridocyclitis;HP:0100522|Thymoma;HP:0000938|Osteopenia;HP:0001972|Macrocytic anemia;HP:0030057|Autoimmune antibody positivity;HP:0001370|Rheumatoid arthritis;HP:0001596|Alopecia;HP:0001097|Keratoconjunctivitis sicca;HP:0002613|Biliary cirrhosis;HP:0006530|Interstitial pulmonary disease;HP:0008207|Primary adrenal insufficiency;HP:0012115|Hepatitis;HP:0002728|Chronic mucocutaneous candidiasis
pituitary deficiency due to rathke's pouch cysts	HP:0000044|Hypogonadotrophic hypogonadism;HP:0030591|Abnormal kinetic perimetry test;HP:0000873|Diabetes insipidus;HP:0000238|Hydrocephalus;HP:0030907|Thunderclap headache;HP:0012505|Enlarged pituitary gland;HP:0040075|Hypopituitarism;HP:0002516|Increased intracranial pressure;HP:0000871|Panhypopituitarism;HP:0004372|Reduced consciousness/confusion;HP:0012246|Oculomotor nerve palsy;HP:0011735|Adrenocorticotropin deficient adrenal insufficiency;HP:0000651|Diplopia;HP:0000830|Anterior hypopituitarism;HP:0430022|Abnormality of the sphenoid sinus;HP:0000870|Prolactin excess;HP:0007807|Optic nerve compression;HP:0000505|Visual impairment;HP:0007924|Slow decrease in visual acuity;HP:0002170|Intracranial hemorrhage;HP:0030521|Bitemporal hemianopia;HP:0002315|Headache;HP:0008240|Secondary growth hormone deficiency;HP:0008245|Pituitary hypothyroidism
monosomy 13q34	HP:0001830|Postaxial foot polydactyly;HP:0001263|Global developmental delay;HP:0001274|Agenesis of corpus callosum;HP:0040180|Hyperkeratosis pilaris;HP:0000363|Abnormality of earlobe;HP:0003256|Abnormality of the coagulation cascade;HP:0000358|Posteriorly rotated ears;HP:0011565|Common atrium;HP:0002573|Hematochezia;HP:0000337|Broad forehead;HP:0000455|Broad nasal tip;HP:0000347|Micrognathia;HP:0003645|Prolonged partial thromboplastin time;HP:0000855|Insulin resistance;HP:0008151|Prolonged prothrombin time;HP:0000316|Hypertelorism;HP:0001162|Postaxial hand polydactyly;HP:0001642|Pulmonic stenosis;HP:0001510|Growth delay;HP:0000494|Downslanted palpebral fissures;HP:0001256|Intellectual disability, mild;HP:0040188|Osteochondrosis;HP:0000286|Epicanthus;HP:0000252|Microcephaly;HP:0100608|Metrorrhagia;HP:0001999|Abnormal facial shape;HP:0008250|Infantile hypercalcemia;HP:0001397|Hepatic steatosis;HP:0010945|Fetal pyelectasis;HP:0000448|Prominent nose;HP:0000426|Prominent nasal bridge;HP:0000421|Epistaxis;HP:0001513|Obesity;HP:0011228|Horizontal eyebrow;HP:0001763|Pes planus
circumscribed palmoplantar hypokeratosis	HP:0010486|Abnormality of the hypothenar eminence;HP:0011121|Abnormality of skin morphology;HP:0001227|Abnormality of the thenar eminence;HP:0200035|Skin plaque;HP:0100872|Abnormality of the plantar skin of foot
pressure-induced localized lipoatrophy	HP:0010783|Erythema;HP:0011356|Regional abnormality of skin;HP:0003758|Reduced subcutaneous adipose tissue;HP:0007485|Absence of subcutaneous fat;HP:0011123|Inflammatory abnormality of the skin;HP:0200036|Skin nodule;HP:0100578|Lipoatrophy
craniometadiaphyseal dysplasia, wormian bone type	HP:0000242|Parietal bossing;HP:0000520|Proptosis;HP:0008438|Vertebral arch anomaly;HP:0000218|High palate;HP:0001248|Short tubular bones of the hand;HP:0002645|Wormian bones;HP:0006391|Overtubulated long bones;HP:0000347|Micrognathia;HP:0005446|Obtuse angle of mandible;HP:0002703|Abnormality of skull ossification;HP:0000494|Downslanted palpebral fissures;HP:0006429|Broad femoral neck;HP:0011001|Increased bone mineral density;HP:0000256|Macrocephaly;HP:0000260|Wide anterior fontanel;HP:0000938|Osteopenia;HP:0000940|Abnormal diaphysis morphology;HP:0002212|Curly hair;HP:0000272|Malar flattening;HP:0001760|Abnormality of the foot;HP:0002753|Thin bony cortex;HP:0009911|Abnormality of the temporal bone;HP:0000885|Broad ribs;HP:0010539|Thin calvarium;HP:0011220|Prominent forehead;HP:0002673|Coxa valga
ectodermal dysplasia-blindness syndrome	HP:0000568|Microphthalmia;HP:0000518|Cataract;HP:0000647|Sclerocornea;HP:0001006|Hypotrichosis;HP:0004322|Short stature;HP:0002213|Fine hair;HP:0000365|Hearing impairment;HP:0001000|Abnormality of skin pigmentation;HP:0002205|Recurrent respiratory infections;HP:0000618|Blindness;HP:0002167|Neurological speech impairment;HP:0000164|Abnormality of the teeth;HP:0200042|Skin ulcer;HP:0000478|Abnormality of the eye;HP:0000962|Hyperkeratosis;HP:0000966|Hypohidrosis;HP:0001131|Corneal dystrophy;HP:0001999|Abnormal facial shape;HP:0001249|Intellectual disability;HP:0000411|Protruding ear;HP:0000504|Abnormality of vision;HP:0001097|Keratoconjunctivitis sicca;HP:0000446|Narrow nasal bridge;HP:0001231|Abnormality of the fingernails;HP:0000482|Microcornea
dyschondrosteosis-nephritis syndrome	HP:0000708|Behavioral abnormality;HP:0008845|Mesomelic short stature;HP:0000691|Microdontia;HP:0006501|Aplasia/Hypoplasia of the radius;HP:0007957|Corneal opacity;HP:0004322|Short stature;HP:0000486|Strabismus;HP:0000112|Nephropathy;HP:0002986|Radial bowing;HP:0001511|Intrauterine growth retardation;HP:0000790|Hematuria;HP:0000093|Proteinuria;HP:0003067|Madelung deformity;HP:0002983|Micromelia;HP:0003031|Ulnar bowing
obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome	HP:0001639|Hypertrophic cardiomyopathy;HP:0000821|Hypothyroidism;HP:0001513|Obesity
polyneuropathy-intellectual disability-acromicria-premature menopause syndrome	HP:0001288|Gait disturbance;HP:0000221|Furrowed tongue;HP:0001324|Muscle weakness;HP:0004322|Short stature;HP:0003457|EMG abnormality;HP:0011675|Arrhythmia;HP:0001956|Truncal obesity;HP:0100490|Camptodactyly of finger;HP:0100805|Precocious menopause;HP:0001156|Brachydactyly syndrome;HP:0009465|Ulnar deviation of finger;HP:0001315|Reduced tendon reflexes;HP:0000762|Decreased nerve conduction velocity;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0002983|Micromelia;HP:0001249|Intellectual disability
osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome	HP:0000618|Blindness;HP:0002007|Frontal bossing;HP:0000252|Microcephaly;HP:0005692|Joint hyperflexibility;HP:0000939|Osteoporosis;HP:0001156|Brachydactyly syndrome;HP:0000648|Optic atrophy;HP:0002645|Wormian bones;HP:0009882|Short distal phalanx of finger;HP:0001249|Intellectual disability
hearing loss-familial salivary gland insensitivity to aldosterone syndrome	HP:0000407|Sensorineural hearing impairment;HP:0010286|Abnormality of the salivary glands;HP:0002902|Hyponatremia
retinal degeneration-nanophthalmos-glaucoma syndrome	HP:0000639|Nystagmus;HP:0000568|Microphthalmia;HP:0000505|Visual impairment;HP:0000545|Myopia;HP:0000648|Optic atrophy;HP:0007703|Abnormality of retinal pigmentation;HP:0000512|Abnormal electroretinogram
46,xx disorder of sex development-anorectal anomalies syndrome	HP:0008678|Renal hypoplasia/aplasia;HP:0010458|Female pseudohermaphroditism;HP:0000003|Multicystic kidney dysplasia;HP:0006501|Aplasia/Hypoplasia of the radius;HP:0002093|Respiratory insufficiency;HP:0002023|Anal atresia;HP:0100627|Displacement of the external urethral meatus;HP:0000126|Hydronephrosis;HP:0000072|Hydroureter;HP:0000795|Abnormality of the urethra;HP:0001562|Oligohydramnios;HP:0002566|Intestinal malrotation;HP:0002575|Tracheoesophageal fistula;HP:0100779|Urogenital sinus anomaly;HP:0000812|Abnormal internal genitalia
ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome	HP:0000028|Cryptorchidism;HP:0001274|Agenesis of corpus callosum;HP:0010864|Intellectual disability, severe;HP:0010978|Abnormality of immune system physiology;HP:0000492|Abnormality of the eyelid;HP:0000682|Abnormality of dental enamel;HP:0003196|Short nose;HP:0002119|Ventriculomegaly;HP:0002213|Fine hair;HP:0005280|Depressed nasal bridge;HP:0000767|Pectus excavatum;HP:0008736|Hypoplasia of penis;HP:0000963|Thin skin;HP:0000490|Deeply set eye;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0010669|Cheekbone underdevelopment;HP:0002007|Frontal bossing;HP:0000369|Low-set ears;HP:0002558|Supernumerary nipple;HP:0000316|Hypertelorism;HP:0001852|Sandal gap;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0000494|Downslanted palpebral fissures;HP:0008872|Feeding difficulties in infancy;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0001288|Gait disturbance;HP:0000256|Macrocephaly;HP:0000966|Hypohidrosis;HP:0002991|Abnormality of the fibula;HP:0000023|Inguinal hernia;HP:0000278|Retrognathia;HP:0010624|Aplastic/hypoplastic toenail;HP:0000691|Microdontia;HP:0000958|Dry skin;HP:0001252|Muscular hypotonia;HP:0000238|Hydrocephalus;HP:0000821|Hypothyroidism;HP:0001561|Polyhydramnios
ankyloblepharon filiforme adnatum-cleft palate syndrome	HP:0009775|Amniotic constriction ring;HP:0009755|Ankyloblepharon;HP:0000175|Cleft palate;HP:0100335|Non-midline cleft lip;HP:0100267|Lip pit
facial dysmorphism-macrocephaly-myopia-dandy-walker malformation syndrome	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0010864|Intellectual disability, severe;HP:0011039|Abnormality of the helix;HP:0000545|Myopia;HP:0000337|Broad forehead;HP:0001099|Fundus atrophy;HP:0000164|Abnormality of the teeth;HP:0000574|Thick eyebrow;HP:0001821|Broad nail;HP:0004374|Hemiplegia/hemiparesis;HP:0001276|Hypertonia;HP:0001250|Seizures;HP:0000286|Epicanthus;HP:0000256|Macrocephaly;HP:0002650|Scoliosis;HP:0000046|Scrotal hypoplasia;HP:0000664|Synophrys;HP:0000648|Optic atrophy;HP:0000431|Wide nasal bridge;HP:0001305|Dandy-Walker malformation;HP:0000348|High forehead;HP:0001007|Hirsutism;HP:0000368|Low-set, posteriorly rotated ears;HP:0000280|Coarse facial features;HP:0000174|Abnormality of the palate;HP:0001252|Muscular hypotonia;HP:0006887|Intellectual disability, progressive;HP:0009882|Short distal phalanx of finger
dandy-walker malformation-postaxial polydactyly syndrome	HP:0001162|Postaxial hand polydactyly;HP:0001305|Dandy-Walker malformation
blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome	HP:0000179|Thick lower lip vermilion;HP:0000303|Mandibular prognathia;HP:0002553|Highly arched eyebrow;HP:0000581|Blepharophimosis;HP:0004322|Short stature;HP:0000458|Anosmia;HP:0001291|Abnormality of the cranial nerves;HP:0000316|Hypertelorism;HP:0006889|Intellectual disability, borderline;HP:0000664|Synophrys;HP:0000574|Thick eyebrow;HP:0000565|Esotropia;HP:0000508|Ptosis
odonto-onycho dysplasia-alopecia syndrome	HP:0001800|Hypoplastic toenails;HP:0000691|Microdontia;HP:0001596|Alopecia;HP:0000535|Sparse eyebrow;HP:0001006|Hypotrichosis;HP:0000692|Misalignment of teeth;HP:0006482|Abnormality of dental morphology;HP:0002231|Sparse body hair;HP:0009804|Reduced number of teeth;HP:0001231|Abnormality of the fingernails;HP:0000982|Palmoplantar keratoderma
ulnar/fibula ray defect-brachydactyly syndrome	HP:0009237|Short 5th finger;HP:0006492|Aplasia/Hypoplasia of the fibula;HP:0004322|Short stature;HP:0001762|Talipes equinovarus;HP:0001773|Short foot;HP:0001510|Growth delay;HP:0000272|Malar flattening;HP:0006495|Aplasia/Hypoplasia of the ulna;HP:0001631|Atrial septal defect;HP:0006210|Postaxial oligodactyly;HP:0001028|Hemangioma;HP:0001156|Brachydactyly syndrome
absence deformity of leg-cataract syndrome	HP:0000505|Visual impairment;HP:0000518|Cataract;HP:0002023|Anal atresia;HP:0003307|Hyperlordosis;HP:0002650|Scoliosis;HP:0002814|Abnormality of the lower limb;HP:0005930|Abnormality of epiphysis morphology;HP:0002823|Abnormality of the femur;HP:0009816|Lower limb undergrowth
trichodermal syndrome-intellectual disability syndrome	HP:0000639|Nystagmus;HP:0005599|Hypopigmentation of hair;HP:0002213|Fine hair;HP:0010808|Protruding tongue;HP:0008070|Sparse hair;HP:0002299|Brittle hair;HP:0000508|Ptosis;HP:0005988|Congenital muscular torticollis;HP:0001249|Intellectual disability
sensorineural hearing loss-early graying-essential tremor syndrome	HP:0000407|Sensorineural hearing impairment;HP:0002216|Premature graying of hair;HP:0000592|Blue sclerae;HP:0001337|Tremor;HP:0001100|Heterochromia iridis
craniosynostosis-fibular aplasia syndrome	HP:0000028|Cryptorchidism;HP:0011800|Midface retrusion;HP:0000470|Short neck;HP:0000520|Proptosis;HP:0002990|Fibular aplasia;HP:0000239|Large fontanelles;HP:0000248|Brachycephaly;HP:0002645|Wormian bones;HP:0000766|Abnormality of the sternum;HP:0000508|Ptosis;HP:0007598|Bilateral single transverse palmar creases;HP:0000486|Strabismus;HP:0000465|Webbed neck;HP:0000960|Sacral dimple;HP:0100810|Pointed helix;HP:0000632|Lacrimation abnormality;HP:0001250|Seizures;HP:0000175|Cleft palate;HP:0002093|Respiratory insufficiency;HP:0000252|Microcephaly;HP:0000023|Inguinal hernia;HP:0001883|Talipes;HP:0003422|Vertebral segmentation defect;HP:0010807|Open bite;HP:0000368|Low-set, posteriorly rotated ears;HP:0000174|Abnormality of the palate;HP:0009804|Reduced number of teeth
corpus callosum agenesis-double urinary collecting system syndrome	HP:0001263|Global developmental delay;HP:0001274|Agenesis of corpus callosum;HP:0002162|Low posterior hairline;HP:0000582|Upslanted palpebral fissure;HP:0002967|Cubitus valgus;HP:0001608|Abnormality of the voice;HP:0000960|Sacral dimple;HP:0000368|Low-set, posteriorly rotated ears;HP:0000081|Duplicated collecting system;HP:0000174|Abnormality of the palate;HP:0000243|Trigonocephaly;HP:0004097|Deviation of finger;HP:0002002|Deep philtrum;HP:0012732|Anorectal anomaly;HP:0001249|Intellectual disability
x-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome	HP:0000322|Short philtrum;HP:0000998|Hypertrichosis;HP:0001250|Seizures;HP:0000411|Protruding ear;HP:0000175|Cleft palate;HP:0001251|Ataxia;HP:0001288|Gait disturbance;HP:0000303|Mandibular prognathia;HP:0002342|Intellectual disability, moderate;HP:0001324|Muscle weakness;HP:0005487|Prominent metopic ridge;HP:0007598|Bilateral single transverse palmar creases;HP:0002650|Scoliosis;HP:0000336|Prominent supraorbital ridges;HP:0000316|Hypertelorism;HP:0001272|Cerebellar atrophy;HP:0000664|Synophrys;HP:0002808|Kyphosis;HP:0004313|Decreased antibody level in blood;HP:0009830|Peripheral neuropathy;HP:0002344|Progressive neurologic deterioration
upper limb defect-eye and ear abnormalities syndrome	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0000286|Epicanthus;HP:0009738|Abnormality of the antihelix;HP:0000518|Cataract;HP:0002750|Delayed skeletal maturation;HP:0000365|Hearing impairment;HP:0001511|Intrauterine growth retardation;HP:0009739|Hypoplasia of the antihelix;HP:0010049|Short metacarpal;HP:0007956|Bilateral choroid coloboma;HP:0009778|Short thumb
hypogonadism-mitral valve prolapse-intellectual disability syndrome	HP:0001256|Intellectual disability, mild;HP:0002162|Low posterior hairline;HP:0000035|Abnormality of the testis;HP:0000470|Short neck;HP:0000771|Gynecomastia;HP:0001634|Mitral valve prolapse;HP:0011362|Abnormal hair quantity;HP:0001513|Obesity;HP:0004322|Short stature;HP:0001163|Abnormality of the metacarpal bones;HP:0000218|High palate;HP:0002997|Abnormality of the ulna;HP:0000144|Decreased fertility;HP:0000135|Hypogonadism;HP:0000494|Downslanted palpebral fissures
neutropenia-monocytopenia-deafness syndrome	HP:0000407|Sensorineural hearing impairment;HP:0004311|Abnormality of macrophages;HP:0001874|Abnormality of neutrophils;HP:0010978|Abnormality of immune system physiology
familial intestinal malrotation-facial anomalies syndrome	HP:0002007|Frontal bossing;HP:0000348|High forehead;HP:0000463|Anteverted nares;HP:0000316|Hypertelorism;HP:0002566|Intestinal malrotation;HP:0000637|Long palpebral fissure;HP:0002580|Volvulus;HP:0005280|Depressed nasal bridge
microphthalmia-ankyloblepharon-intellectual disability syndrome	HP:0001256|Intellectual disability, mild;HP:0009755|Ankyloblepharon;HP:0000528|Anophthalmia;HP:0000568|Microphthalmia
blepharophimosis-epicanthus inversus-ptosis syndrome	HP:0000639|Nystagmus;HP:0000286|Epicanthus;HP:0000581|Blepharophimosis;HP:0000486|Strabismus;HP:0000545|Myopia;HP:0100805|Precocious menopause;HP:0000664|Synophrys;HP:0005280|Depressed nasal bridge;HP:0011481|Abnormality of the lacrimal duct;HP:0000508|Ptosis
x-linked intellectual disability-precocious puberty-obesity syndrome	HP:0000826|Precocious puberty;HP:0001513|Obesity;HP:0000098|Tall stature;HP:0001249|Intellectual disability
facial dysmorphism-shawl scrotum-joint laxity syndrome	HP:0000028|Cryptorchidism;HP:0000239|Large fontanelles;HP:0000508|Ptosis;HP:0000303|Mandibular prognathia;HP:0000506|Telecanthus;HP:0001537|Umbilical hernia;HP:0000369|Low-set ears;HP:0002167|Neurological speech impairment;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0000049|Shawl scrotum;HP:0000494|Downslanted palpebral fissures;HP:0001256|Intellectual disability, mild;HP:0000286|Epicanthus;HP:0001608|Abnormality of the voice;HP:0000319|Smooth philtrum;HP:0003764|Nevus;HP:0002857|Genu valgum;HP:0000431|Wide nasal bridge;HP:0002162|Low posterior hairline;HP:0000411|Protruding ear;HP:0001928|Abnormality of coagulation;HP:0002967|Cubitus valgus;HP:0010669|Cheekbone underdevelopment
short fifth metacarpals-insulin resistance syndrome	HP:0001744|Splenomegaly;HP:0004444|Spherocytosis;HP:0000842|Hyperinsulinemia;HP:0004322|Short stature;HP:0001742|Nasal obstruction;HP:0010047|Short 5th metacarpal
delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome	HP:0000324|Facial asymmetry;HP:0007946|Unilateral narrow palpebral fissure;HP:0000577|Exotropia;HP:0009908|Anterior creases of earlobe;HP:0000369|Low-set ears;HP:0000463|Anteverted nares;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0001249|Intellectual disability;HP:0000750|Delayed speech and language development;HP:0000218|High palate;HP:0000508|Ptosis;HP:0000494|Downslanted palpebral fissures
muscular dystrophy-white matter spongiosis syndrome	HP:0001250|Seizures;HP:0002093|Respiratory insufficiency;HP:0000256|Macrocephaly;HP:0000275|Narrow face;HP:0003457|EMG abnormality;HP:0010628|Facial palsy;HP:0001252|Muscular hypotonia;HP:0001315|Reduced tendon reflexes;HP:0000174|Abnormality of the palate;HP:0002486|Myotonia;HP:0003202|Skeletal muscle atrophy;HP:0001249|Intellectual disability
cleft palate-stapes fixation-oligodontia syndrome	HP:0000413|Atresia of the external auditory canal;HP:0000175|Cleft palate;HP:0009702|Carpal synostosis;HP:0008368|Tarsal synostosis;HP:0000506|Telecanthus;HP:0008513|Bilateral conductive hearing impairment;HP:0003019|Abnormality of the wrist;HP:0012225|Oligodontia of primary teeth;HP:0003028|Abnormality of the ankles
postaxial polydactyly-dental and vertebral anomalies syndrome	HP:0001357|Plagiocephaly;HP:0000682|Abnormality of dental enamel;HP:0004322|Short stature;HP:0000474|Thickened nuchal skin fold;HP:0002999|Patellar dislocation;HP:0010935|Abnormality of the upper urinary tract;HP:0001156|Brachydactyly syndrome;HP:0002937|Hemivertebrae;HP:0008479|Hypoplastic vertebral bodies;HP:0000303|Mandibular prognathia;HP:0002564|Malformation of the heart and great vessels;HP:0000668|Hypodontia;HP:0001162|Postaxial hand polydactyly;HP:0009906|Aplasia/Hypoplasia of the earlobes;HP:0000632|Lacrimation abnormality;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0003312|Abnormal form of the vertebral bodies;HP:0100672|Vaginal hernia;HP:0009738|Abnormality of the antihelix;HP:0002650|Scoliosis;HP:0003042|Elbow dislocation;HP:0002808|Kyphosis;HP:0004209|Clinodactyly of the 5th finger;HP:0001572|Macrodontia;HP:0005988|Congenital muscular torticollis;HP:0002162|Low posterior hairline;HP:0001347|Hyperreflexia;HP:0002948|Vertebral fusion
larsen-like osseous dysplasia-short stature syndrome	HP:0001263|Global developmental delay;HP:0000160|Narrow mouth;HP:0000520|Proptosis;HP:0001385|Hip dysplasia;HP:0003312|Abnormal form of the vertebral bodies;HP:0007957|Corneal opacity;HP:0002652|Skeletal dysplasia;HP:0003196|Short nose;HP:0004322|Short stature;HP:0000486|Strabismus;HP:0001163|Abnormality of the metacarpal bones;HP:0002650|Scoliosis;HP:0000368|Low-set, posteriorly rotated ears;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0000233|Thin vermilion border;HP:0001511|Intrauterine growth retardation;HP:0004209|Clinodactyly of the 5th finger;HP:0004349|Reduced bone mineral density;HP:0001671|Abnormality of the cardiac septa;HP:0000944|Abnormality of the metaphyses;HP:0001156|Brachydactyly syndrome
absence of fingerprints-congenital milia syndrome	HP:0000988|Skin rash;HP:0000963|Thin skin;HP:0000966|Hypohidrosis;HP:0001056|Milia;HP:0001072|Thickened skin;HP:0009775|Amniotic constriction ring;HP:0100490|Camptodactyly of finger;HP:0007477|Abnormal dermatoglyphics;HP:0008066|Abnormal blistering of the skin
lung agenesis-heart defect-thumb anomalies syndrome	HP:0011039|Abnormality of the helix;HP:0005180|Tricuspid regurgitation;HP:0002119|Ventriculomegaly;HP:0001631|Atrial septal defect;HP:0007598|Bilateral single transverse palmar creases;HP:0002101|Abnormal lung lobation;HP:0001680|Coarctation of aorta;HP:0010772|Anomalous pulmonary venous return;HP:0001172|Abnormality of the thumb;HP:0001643|Patent ductus arteriosus;HP:0001522|Death in infancy;HP:0000772|Abnormality of the ribs;HP:0002414|Spina bifida;HP:0009778|Short thumb;HP:0001250|Seizures;HP:0001177|Preaxial hand polydactyly;HP:0002093|Respiratory insufficiency;HP:0001646|Abnormality of the aortic valve;HP:0001647|Bicuspid aortic valve;HP:0009623|Proximal placement of thumb;HP:0001772|Talipes equinovalgus;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0003422|Vertebral segmentation defect;HP:0001199|Triphalangeal thumb;HP:0006695|Atrioventricular canal defect;HP:0009882|Short distal phalanx of finger;HP:0000776|Congenital diaphragmatic hernia
thumb stiffness-brachydactyly-intellectual disability syndrome	HP:0001513|Obesity;HP:0009370|Type A brachydactyly;HP:0001387|Joint stiffness;HP:0001163|Abnormality of the metacarpal bones;HP:0001172|Abnormality of the thumb;HP:0001249|Intellectual disability
primary hypergonadotropic hypogonadism-partial alopecia syndrome	HP:0000028|Cryptorchidism;HP:0002938|Lumbar hyperlordosis;HP:0000786|Primary amenorrhea;HP:0007464|Sparse facial hair;HP:0012506|Small pituitary gland;HP:0000815|Hypergonadotropic hypogonadism;HP:0000535|Sparse eyebrow;HP:0000365|Hearing impairment;HP:0010487|Small hypothenar eminence;HP:0008684|Aplasia/hypoplasia of the uterus;HP:0002225|Sparse pubic hair;HP:0002652|Skeletal dysplasia;HP:0010464|Streak ovary;HP:0000837|Increased circulating gonadotropin level;HP:0002293|Alopecia of scalp;HP:0001510|Growth delay;HP:0001256|Intellectual disability, mild;HP:0005469|Flat occiput;HP:0003187|Breast hypoplasia;HP:0008230|Decreased testosterone in males;HP:0000252|Microcephaly;HP:0000938|Osteopenia;HP:0008187|Absence of secondary sex characteristics;HP:0000939|Osteoporosis;HP:0002808|Kyphosis;HP:0000823|Delayed puberty;HP:0010463|Aplasia of the ovary;HP:0003393|Thenar muscle atrophy;HP:0000802|Impotence;HP:0006184|Decreased palmar creases;HP:0000789|Infertility;HP:0001596|Alopecia;HP:0000219|Thin upper lip vermilion;HP:0008633|Absent gonadal tissue;HP:0001199|Triphalangeal thumb;HP:0008193|Primary gonadal insufficiency;HP:0008214|Decreased serum estradiol;HP:0009185|Contracture of the proximal interphalangeal joint of the 5th finger;HP:0011961|Non-obstructive azoospermia;HP:0000534|Abnormality of the eyebrow;HP:0003799|Marked delay in bone age
aplasia cutis-myopia syndrome	HP:0000924|Abnormality of the skeletal system;HP:0001892|Abnormal bleeding;HP:0001928|Abnormality of coagulation;HP:0001362|Skull defect;HP:0200042|Skin ulcer;HP:0001057|Aplasia cutis congenita;HP:0001287|Meningitis;HP:0006934|Congenital nystagmus;HP:0012639|Abnormality of nervous system morphology;HP:0007703|Abnormality of retinal pigmentation;HP:0011003|Severe Myopia
osteosclerosis-ichthyosis-premature ovarian failure syndrome	HP:0010741|Edema of the lower limbs;HP:0008209|Premature ovarian failure;HP:0100805|Precocious menopause;HP:0008064|Ichthyosis;HP:0011001|Increased bone mineral density
dysmorphism-cleft palate-loose skin syndrome	HP:0000286|Epicanthus;HP:0000098|Tall stature;HP:0000175|Cleft palate;HP:0000347|Micrognathia;HP:0001582|Redundant skin;HP:0001347|Hyperreflexia;HP:0000276|Long face;HP:0000275|Narrow face;HP:0000474|Thickened nuchal skin fold;HP:0001252|Muscular hypotonia;HP:0000243|Trigonocephaly;HP:0001249|Intellectual disability
aplasia cutis congenita-intestinal lymphangiectasia syndrome	HP:0001892|Abnormal bleeding;HP:0007598|Bilateral single transverse palmar creases;HP:0000567|Chorioretinal coloboma;HP:0011362|Abnormal hair quantity;HP:0001928|Abnormality of coagulation;HP:0000545|Myopia;HP:0001362|Skull defect;HP:0004313|Decreased antibody level in blood;HP:0003075|Hypoproteinemia;HP:0001888|Lymphopenia;HP:0004209|Clinodactyly of the 5th finger;HP:0001004|Lymphedema;HP:0002024|Malabsorption
absent tibia-polydactyly syndrome	HP:0005772|Aplasia/Hypoplasia of the tibia;HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0005048|Synostosis of carpal bones;HP:0004322|Short stature;HP:0002991|Abnormality of the fibula;HP:0006443|Patellar aplasia
pili torti-developmental delay-neurological abnormalities syndrome	HP:0001263|Global developmental delay;HP:0003777|Pili torti;HP:0001251|Ataxia;HP:0001288|Gait disturbance;HP:0010719|Abnormality of hair texture;HP:0005692|Joint hyperflexibility;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0001252|Muscular hypotonia;HP:0001510|Growth delay;HP:0200102|Sparse or absent eyelashes
hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome	HP:0008391|Dystrophic fingernails;HP:0000632|Lacrimation abnormality;HP:0000708|Behavioral abnormality;HP:0001810|Dystrophic toenail;HP:0012265|Ciliary dyskinesia;HP:0001596|Alopecia;HP:0002205|Recurrent respiratory infections;HP:0000535|Sparse eyebrow;HP:0000966|Hypohidrosis;HP:0002750|Delayed skeletal maturation;HP:0002209|Sparse scalp hair;HP:0004322|Short stature;HP:0002213|Fine hair;HP:0000821|Hypothyroidism;HP:0000995|Melanocytic nevus
cloverleaf skull-multiple congenital anomalies syndrome	HP:0001274|Agenesis of corpus callosum;HP:0000470|Short neck;HP:0006487|Bowing of the long bones;HP:0000568|Microphthalmia;HP:0000518|Cataract;HP:0000239|Large fontanelles;HP:0001629|Ventricular septal defect;HP:0005930|Abnormality of epiphysis morphology;HP:0002691|Platybasia;HP:0000347|Micrognathia;HP:0002007|Frontal bossing;HP:0002676|Cloverleaf skull;HP:0000369|Low-set ears;HP:0000316|Hypertelorism;HP:0000774|Narrow chest;HP:0000772|Abnormality of the ribs;HP:0000062|Ambiguous genitalia;HP:0002714|Downturned corners of mouth;HP:0004331|Decreased skull ossification;HP:0000889|Abnormality of the clavicle;HP:0001539|Omphalocele;HP:0009623|Proximal placement of thumb;HP:0000926|Platyspondyly;HP:0000431|Wide nasal bridge;HP:0000322|Short philtrum;HP:0000944|Abnormality of the metaphyses;HP:0008905|Rhizomelia
hair defect-photosensitivity-intellectual disability syndrome	HP:0003777|Pili torti;HP:0010978|Abnormality of immune system physiology;HP:0011362|Abnormal hair quantity;HP:0000535|Sparse eyebrow;HP:0000992|Cutaneous photosensitivity;HP:0002213|Fine hair;HP:0008070|Sparse hair;HP:0002299|Brittle hair;HP:0002208|Coarse hair;HP:0001595|Abnormality of the hair;HP:0000653|Sparse eyelashes;HP:0001249|Intellectual disability
hypospadias-intellectual disability, goldblatt type syndrome	HP:0000047|Hypospadias;HP:0011800|Midface retrusion;HP:0008388|Abnormality of the toenails;HP:0001387|Joint stiffness;HP:0000444|Convex nasal ridge;HP:0000252|Microcephaly;HP:0000368|Low-set, posteriorly rotated ears;HP:0000664|Synophrys;HP:0000174|Abnormality of the palate;HP:0000243|Trigonocephaly;HP:0001252|Muscular hypotonia;HP:0001231|Abnormality of the fingernails;HP:0004209|Clinodactyly of the 5th finger;HP:0000396|Overfolded helix;HP:0001249|Intellectual disability
dacryocystitis-osteopoikilosis syndrome	HP:0000632|Lacrimation abnormality;HP:0010739|Osteopoikilosis;HP:0011001|Increased bone mineral density;HP:0000620|Dacryocystitis
lower limb deficiency-hypospadias syndrome	HP:0000047|Hypospadias;HP:0000470|Short neck;HP:0002093|Respiratory insufficiency;HP:0002564|Malformation of the heart and great vessels;HP:0000400|Macrotia;HP:0000960|Sacral dimple;HP:0000368|Low-set, posteriorly rotated ears;HP:0000069|Abnormality of the ureter;HP:0001622|Premature birth;HP:0002992|Abnormality of the tibia;HP:0100559|Lower limb asymmetry;HP:0001743|Abnormality of the spleen
x-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome	HP:0001263|Global developmental delay;HP:0001274|Agenesis of corpus callosum;HP:0001285|Spastic tetraparesis;HP:0001249|Intellectual disability
holoprosencephaly-radial heart renal anomalies syndrome	HP:0009914|Cyclopia;HP:0000568|Microphthalmia;HP:0000356|Abnormality of the outer ear;HP:0000365|Hearing impairment;HP:0000601|Hypotelorism;HP:0001360|Holoprosencephaly;HP:0009927|Aplasia of the nose;HP:0002269|Abnormality of neuronal migration;HP:0008678|Renal hypoplasia/aplasia;HP:0007744|Iridoretinal coloboma;HP:0003063|Abnormality of the humerus;HP:0000921|Missing ribs;HP:0001636|Tetralogy of Fallot;HP:0009829|Phocomelia;HP:0001829|Foot polydactyly;HP:0000612|Iris coloboma;HP:0000413|Atresia of the external auditory canal;HP:0003022|Hypoplasia of the ulna;HP:0011467|Absent gallbladder;HP:0002984|Hypoplasia of the radius;HP:0000252|Microcephaly;HP:0001539|Omphalocele;HP:0002623|Overriding aorta;HP:0000202|Oral cleft;HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0003422|Vertebral segmentation defect;HP:0000161|Median cleft lip;HP:0100542|Abnormal localization of kidney
myopathy-growth delay-intellectual disability-hypospadias syndrome	HP:0000047|Hypospadias;HP:0000834|Abnormality of the adrenal glands;HP:0001250|Seizures;HP:0003236|Elevated serum creatine phosphokinase;HP:0100543|Cognitive impairment;HP:0004322|Short stature
facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome	HP:0000508|Ptosis;HP:0004326|Cachexia;HP:0002970|Genu varum;HP:0001633|Abnormality of the mitral valve;HP:0006101|Finger syndactyly;HP:0004322|Short stature;HP:0000463|Anteverted nares;HP:0001608|Abnormality of the voice;HP:0002650|Scoliosis;HP:0007513|Generalized hypopigmentation;HP:0001555|Asymmetry of the thorax;HP:0010290|Short hard palate;HP:0002808|Kyphosis;HP:0004122|Midline defect of the nose;HP:0007565|Multiple cafe-au-lait spots;HP:0007703|Abnormality of retinal pigmentation;HP:0000767|Pectus excavatum;HP:0002039|Anorexia;HP:0000820|Abnormality of the thyroid gland;HP:0003202|Skeletal muscle atrophy;HP:0000995|Melanocytic nevus
congenital muscular dystrophy-infantile cataract-hypogonadism syndrome	HP:0000137|Abnormality of the ovary;HP:0000298|Mask-like facies;HP:0001288|Gait disturbance;HP:0000518|Cataract;HP:0002967|Cubitus valgus;HP:0000486|Strabismus;HP:0005692|Joint hyperflexibility;HP:0003741|Congenital muscular dystrophy;HP:0002808|Kyphosis;HP:0008734|Decreased testicular size;HP:0001252|Muscular hypotonia;HP:0000508|Ptosis;HP:0000135|Hypogonadism;HP:0006610|Wide intermamillary distance
odontomatosis-aortae esophagus stenosis syndrome	HP:0001399|Hepatic failure;HP:0002564|Malformation of the heart and great vessels;HP:0002015|Dysphagia;HP:0002621|Atherosclerosis;HP:0012819|Myocarditis;HP:0011068|Odontoma
blepharoptosis-myopia-ectopia lentis syndrome	HP:0011039|Abnormality of the helix;HP:0001083|Ectopia lentis;HP:0000269|Prominent occiput;HP:0000545|Myopia;HP:0100540|Palpebral edema;HP:0100798|Fingernail dysplasia;HP:0000501|Glaucoma;HP:0007703|Abnormality of retinal pigmentation;HP:0000508|Ptosis;HP:0000612|Iris coloboma
microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome	HP:0008551|Microtia;HP:0000564|Lacrimal duct atresia;HP:0000612|Iris coloboma;HP:0000613|Photophobia
choroidal atrophy-alopecia syndrome	HP:0007703|Abnormality of retinal pigmentation;HP:0100804|Ungual fibroma;HP:0006101|Finger syndactyly;HP:0000505|Visual impairment;HP:0002558|Supernumerary nipple;HP:0002213|Fine hair;HP:0008070|Sparse hair;HP:0200102|Sparse or absent eyelashes;HP:0001231|Abnormality of the fingernails;HP:0008388|Abnormality of the toenails
microcephaly-brain defect-spasticity-hypernatremia syndrome	HP:0001257|Spasticity;HP:0100543|Cognitive impairment;HP:0000252|Microcephaly;HP:0001360|Holoprosencephaly;HP:0002120|Cerebral cortical atrophy;HP:0001939|Abnormality of metabolism/homeostasis
short stature-wormian bones-dextrocardia syndrome	HP:0000028|Cryptorchidism;HP:0001651|Dextrocardia;HP:0002023|Anal atresia;HP:0100543|Cognitive impairment;HP:0004322|Short stature;HP:0000288|Abnormality of the philtrum;HP:0000437|Depressed nasal tip;HP:0000527|Long eyelashes;HP:0000218|High palate;HP:0002645|Wormian bones;HP:0007477|Abnormal dermatoglyphics;HP:0001156|Brachydactyly syndrome;HP:0008678|Renal hypoplasia/aplasia;HP:0001257|Spasticity;HP:0000347|Micrognathia;HP:0000369|Low-set ears;HP:0001643|Patent ductus arteriosus;HP:0000684|Delayed eruption of teeth;HP:0000494|Downslanted palpebral fissures;HP:0000431|Wide nasal bridge;HP:0000830|Anterior hypopituitarism;HP:0000187|Broad alveolar ridges;HP:0012854|Midshaft hypospadias;HP:0100490|Camptodactyly of finger;HP:0009804|Reduced number of teeth
multinodular goiter-cystic kidney-polydactyly syndrome	HP:0001199|Triphalangeal thumb;HP:0001162|Postaxial hand polydactyly;HP:0005987|Multinodular goiter;HP:0001841|Preaxial foot polydactyly;HP:0000003|Multicystic kidney dysplasia
cerebellar hypoplasia-tapetoretinal degeneration syndrome	HP:0000639|Nystagmus;HP:0001251|Ataxia;HP:0000505|Visual impairment;HP:0100543|Cognitive impairment;HP:0001321|Cerebellar hypoplasia;HP:0001252|Muscular hypotonia;HP:0000648|Optic atrophy;HP:0007703|Abnormality of retinal pigmentation;HP:0000512|Abnormal electroretinogram
diaphragmatic defect-limb deficiency-skull defect syndrome	HP:0002089|Pulmonary hypoplasia;HP:0006101|Finger syndactyly;HP:0006492|Aplasia/Hypoplasia of the fibula;HP:0006501|Aplasia/Hypoplasia of the radius;HP:0100560|Upper limb asymmetry;HP:0006507|Aplasia/hypoplasia of the humerus;HP:0002814|Abnormality of the lower limb;HP:0001539|Omphalocele;HP:0000782|Abnormality of the scapula;HP:0002817|Abnormality of the upper limb;HP:0002823|Abnormality of the femur;HP:0004209|Clinodactyly of the 5th finger;HP:0000008|Abnormality of female internal genitalia;HP:0006495|Aplasia/Hypoplasia of the ulna;HP:0004331|Decreased skull ossification;HP:0000776|Congenital diaphragmatic hernia
acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome	HP:0000831|Insulin-resistant diabetes mellitus;HP:0008675|Enlarged polycystic ovaries;HP:0000956|Acanthosis nigricans;HP:0000105|Enlarged kidney;HP:0000855|Insulin resistance;HP:0001007|Hirsutism;HP:0000845|Growth hormone excess;HP:0003394|Muscle cramps;HP:0000147|Polycystic ovaries
choroideremia-hypopituitarism syndrome	HP:0000639|Nystagmus;HP:0004326|Cachexia;HP:0001251|Ataxia;HP:0000505|Visual impairment;HP:0001347|Hyperreflexia;HP:0004322|Short stature;HP:0000822|Hypertension;HP:0000830|Anterior hypopituitarism;HP:0001139|Choroideremia
shoulder and girdle defects-familial intellectual disability syndrome	HP:0002353|EEG abnormality;HP:0000322|Short philtrum;HP:0002162|Low posterior hairline;HP:0004322|Short stature;HP:0001163|Abnormality of the metacarpal bones;HP:0000664|Synophrys;HP:0009751|Aplasia of the pectoralis major muscle;HP:0000574|Thick eyebrow;HP:0000272|Malar flattening;HP:0000912|Sprengel anomaly;HP:0002208|Coarse hair;HP:0003202|Skeletal muscle atrophy;HP:0001249|Intellectual disability
contractures-ectodermal dysplasia-cleft lip/palate syndrome	HP:0000632|Lacrimation abnormality;HP:0001263|Global developmental delay;HP:0000175|Cleft palate;HP:0000966|Hypohidrosis;HP:0100543|Cognitive impairment;HP:0001376|Limitation of joint mobility;HP:0002804|Arthrogryposis multiplex congenita;HP:0100335|Non-midline cleft lip
radioulnar synostosis-developmental delay-hypotonia syndrome	HP:0001263|Global developmental delay;HP:0000670|Carious teeth;HP:0002974|Radioulnar synostosis;HP:0000411|Protruding ear;HP:0000003|Multicystic kidney dysplasia;HP:0000426|Prominent nasal bridge;HP:0001288|Gait disturbance;HP:0000256|Macrocephaly;HP:0003011|Abnormality of the musculature;HP:0007477|Abnormal dermatoglyphics;HP:0000275|Narrow face;HP:0000364|Hearing abnormality;HP:0000486|Strabismus;HP:0002167|Neurological speech impairment;HP:0000164|Abnormality of the teeth;HP:0000174|Abnormality of the palate;HP:0001252|Muscular hypotonia;HP:0000448|Prominent nose;HP:0000268|Dolichocephaly;HP:0000767|Pectus excavatum
lipodystrophy-intellectual disability-deafness syndrome	HP:0001263|Global developmental delay;HP:0004993|Slender long bones with narrow diaphyses;HP:0100959|Dense metaphyseal bands;HP:0009064|Generalized lipodystrophy;HP:0001518|Small for gestational age;HP:0004322|Short stature;HP:0000938|Osteopenia;HP:0001533|Slender build;HP:0001508|Failure to thrive;HP:0001511|Intrauterine growth retardation;HP:0005328|Progeroid facial appearance;HP:0000407|Sensorineural hearing impairment;HP:0001249|Intellectual disability
prominent glabella-microcephaly-hypogenitalism syndrome	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0000470|Short neck;HP:0002553|Highly arched eyebrow;HP:0003196|Short nose;HP:0100543|Cognitive impairment;HP:0010720|Abnormal hair pattern;HP:0002119|Ventriculomegaly;HP:0012745|Short palpebral fissure;HP:0000474|Thickened nuchal skin fold;HP:0000358|Posteriorly rotated ears;HP:0008736|Hypoplasia of penis;HP:0001156|Brachydactyly syndrome;HP:0007598|Bilateral single transverse palmar creases;HP:0000347|Micrognathia;HP:0000126|Hydronephrosis;HP:0001511|Intrauterine growth retardation;HP:0001276|Hypertonia;HP:0001510|Growth delay;HP:0000396|Overfolded helix;HP:0001250|Seizures;HP:0002057|Prominent glabella;HP:0001608|Abnormality of the voice;HP:0000252|Microcephaly;HP:0000046|Scrotal hypoplasia;HP:0000268|Dolichocephaly;HP:0006610|Wide intermamillary distance;HP:0000426|Prominent nasal bridge;HP:0000400|Macrotia;HP:0100490|Camptodactyly of finger;HP:0000430|Underdeveloped nasal alae
x-linked intellectual disability-macrocephaly-macroorchidism syndrome	HP:0000256|Macrocephaly;HP:0000053|Macroorchidism;HP:0002342|Intellectual disability, moderate
cataract-ataxia-deafness syndrome	HP:0000639|Nystagmus;HP:0001256|Intellectual disability, mild;HP:0001251|Ataxia;HP:0000505|Visual impairment;HP:0001337|Tremor;HP:0004322|Short stature;HP:0001284|Areflexia;HP:0008615|Adult onset sensorineural hearing impairment;HP:0009830|Peripheral neuropathy;HP:0000519|Congenital cataract;HP:0000407|Sensorineural hearing impairment;HP:0000762|Decreased nerve conduction velocity;HP:0001276|Hypertonia
ankyloblepharon filiforme-imperforate anus syndrome	HP:0000028|Cryptorchidism;HP:0009755|Ankyloblepharon;HP:0000175|Cleft palate;HP:0100335|Non-midline cleft lip;HP:0009804|Reduced number of teeth
brachydactyly-mesomelia-intellectual disability-heart defects syndrome	HP:0000347|Micrognathia;HP:0001633|Abnormality of the mitral valve;HP:0003043|Abnormality of the shoulder;HP:0004299|Hernia of the abdominal wall;HP:0100543|Cognitive impairment;HP:0000444|Convex nasal ridge;HP:0100818|Long thorax;HP:0003027|Mesomelia;HP:0000174|Abnormality of the palate;HP:0009804|Reduced number of teeth;HP:0001156|Brachydactyly syndrome
visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome	HP:0000028|Cryptorchidism;HP:0001263|Global developmental delay;HP:0000535|Sparse eyebrow;HP:0001601|Laryngomalacia;HP:0001166|Arachnodactyly;HP:0001770|Toe syndactyly;HP:0002019|Constipation;HP:0000508|Ptosis;HP:0000337|Broad forehead;HP:0006101|Finger syndactyly;HP:0000369|Low-set ears;HP:0000486|Strabismus;HP:0000343|Long philtrum;HP:0001511|Intrauterine growth retardation;HP:0004279|Short palm;HP:0000494|Downslanted palpebral fissures;HP:0000003|Multicystic kidney dysplasia;HP:0000252|Microcephaly;HP:0002514|Cerebral calcification;HP:0000278|Retrognathia;HP:0000411|Protruding ear;HP:0004389|Intestinal pseudo-obstruction;HP:0010956|Fetal megacystis;HP:0007678|Lacrimal duct stenosis;HP:0001252|Muscular hypotonia
spina bifida-hypospadias syndrome	HP:0000047|Hypospadias;HP:0002414|Spina bifida;HP:0010301|Spinal dysraphism
olivopontocerebellar atrophy-deafness syndrome	HP:0000639|Nystagmus;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0000567|Chorioretinal coloboma;HP:0001251|Ataxia;HP:0001347|Hyperreflexia;HP:0000486|Strabismus;HP:0002167|Neurological speech impairment;HP:0002119|Ventriculomegaly;HP:0000365|Hearing impairment;HP:0002542|Olivopontocerebellar atrophy;HP:0002120|Cerebral cortical atrophy;HP:0000648|Optic atrophy;HP:0001276|Hypertonia
cryptomicrotia-brachydactyly-excess fingertip arch syndrome	HP:0005872|Brachytelomesophalangy;HP:0001800|Hypoplastic toenails;HP:0000506|Telecanthus;HP:0001480|Freckling;HP:0007477|Abnormal dermatoglyphics;HP:0000048|Bifid scrotum;HP:0009882|Short distal phalanx of finger
hallux varus-preaxial polysyndactyly syndrome	HP:0001852|Sandal gap;HP:0004209|Clinodactyly of the 5th finger
blepharophimosis-radioulnar synostosis syndrome	HP:0000581|Blepharophimosis;HP:0004322|Short stature;HP:0100543|Cognitive impairment;HP:0000767|Pectus excavatum;HP:0000508|Ptosis;HP:0000303|Mandibular prognathia;HP:0000486|Strabismus;HP:0000494|Downslanted palpebral fissures;HP:0000889|Abnormality of the clavicle;HP:0000286|Epicanthus;HP:0000324|Facial asymmetry;HP:0003312|Abnormal form of the vertebral bodies;HP:0001163|Abnormality of the metacarpal bones;HP:0000252|Microcephaly;HP:0002650|Scoliosis;HP:0003042|Elbow dislocation;HP:0009623|Proximal placement of thumb;HP:0004493|Craniofacial hyperostosis;HP:0004209|Clinodactyly of the 5th finger;HP:0002974|Radioulnar synostosis;HP:0001387|Joint stiffness;HP:0001252|Muscular hypotonia;HP:0009882|Short distal phalanx of finger;HP:0000482|Microcornea
microcornea-corectopia-macular hypoplasia syndrome	HP:0001104|Macular hypoplasia;HP:0000545|Myopia;HP:0007703|Abnormality of retinal pigmentation;HP:0001671|Abnormality of the cardiac septa;HP:0009918|Ectopia pupillae;HP:0000482|Microcornea
cleft lip/palate-intestinal malrotation-cardiopathy syndrome	HP:0002744|Bilateral cleft lip and palate;HP:0000470|Short neck;HP:0000582|Upslanted palpebral fissure;HP:0000347|Micrognathia;HP:0012368|Flat face;HP:0005469|Flat occiput;HP:0002564|Malformation of the heart and great vessels;HP:0011304|Broad thumb;HP:0000316|Hypertelorism;HP:0002566|Intestinal malrotation;HP:0001643|Patent ductus arteriosus;HP:0010297|Bifid tongue;HP:0004209|Clinodactyly of the 5th finger;HP:0004383|Hypoplastic left heart;HP:0001679|Abnormality of the aorta
robin sequence-oligodactyly syndrome	HP:0000175|Cleft palate;HP:0000347|Micrognathia;HP:0003312|Abnormal form of the vertebral bodies;HP:0001163|Abnormality of the metacarpal bones;HP:0000275|Narrow face;HP:0000162|Glossoptosis;HP:0000164|Abnormality of the teeth;HP:0002997|Abnormality of the ulna;HP:0004209|Clinodactyly of the 5th finger;HP:0001180|Oligodactyly (hands)
intellectual disability-short stature-hypertelorism syndrome	HP:0002007|Frontal bossing;HP:0000463|Anteverted nares;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0004209|Clinodactyly of the 5th finger;HP:0000445|Wide nose;HP:0000337|Broad forehead;HP:0010669|Cheekbone underdevelopment;HP:0001249|Intellectual disability
congenital cataract-ichthyosis syndrome	HP:0000518|Cataract;HP:0000966|Hypohidrosis;HP:0008064|Ichthyosis;HP:0001231|Abnormality of the fingernails
keratosis palmaris et plantaris-clinodactyly syndrome	HP:0004209|Clinodactyly of the 5th finger;HP:0007435|Diffuse palmoplantar keratoderma;HP:0000975|Hyperhidrosis
gingival fibromatosis-progressive deafness syndrome	HP:0000407|Sensorineural hearing impairment;HP:0000169|Gingival fibromatosis;HP:0000212|Gingival overgrowth;HP:0000684|Delayed eruption of teeth
dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome	HP:0001256|Intellectual disability, mild;HP:0000322|Short philtrum;HP:0000426|Prominent nasal bridge;HP:0004322|Short stature;HP:0000939|Osteoporosis;HP:0001999|Abnormal facial shape;HP:0000684|Delayed eruption of teeth;HP:0010579|Cone-shaped epiphysis;HP:0000926|Platyspondyly;HP:0000407|Sensorineural hearing impairment;HP:0000703|Dentinogenesis imperfecta
nephrogenic diabetes insipidus-intracranial calcification syndrome	HP:0001263|Global developmental delay;HP:0000670|Carious teeth;HP:0000347|Micrognathia;HP:0010669|Cheekbone underdevelopment;HP:0009738|Abnormality of the antihelix;HP:0004322|Short stature;HP:0002514|Cerebral calcification;HP:0000494|Downslanted palpebral fissures;HP:0000823|Delayed puberty;HP:0001376|Limitation of joint mobility;HP:0009806|Nephrogenic diabetes insipidus;HP:0011069|Increased number of teeth;HP:0000405|Conductive hearing impairment;HP:0001939|Abnormality of metabolism/homeostasis;HP:0001249|Intellectual disability
hemorrhagic fever-renal syndrome	HP:0002239|Gastrointestinal hemorrhage;HP:0100576|Amaurosis fugax;HP:0002202|Pleural effusion;HP:0012378|Fatigue;HP:0000545|Myopia;HP:0002027|Abdominal pain;HP:0001697|Abnormality of the pericardium;HP:0000093|Proteinuria;HP:0000083|Renal insufficiency;HP:0001637|Abnormality of the myocardium;HP:0002829|Arthralgia;HP:0003326|Myalgia;HP:0001873|Thrombocytopenia;HP:0011896|Subconjunctival hemorrhage;HP:0100520|Oliguria;HP:0002113|Pulmonary infiltrates;HP:0000822|Hypertension;HP:0001969|Tubulointerstitial abnormality;HP:0002615|Hypotension;HP:0002105|Hemoptysis;HP:0002093|Respiratory insufficiency;HP:0100750|Atelectasis;HP:0011675|Arrhythmia;HP:0003075|Hypoproteinemia;HP:0001945|Fever;HP:0002076|Migraine;HP:0002910|Elevated hepatic transaminases;HP:0001974|Leukocytosis;HP:0000613|Photophobia;HP:0000509|Conjunctivitis;HP:0002170|Intracranial hemorrhage;HP:0000091|Abnormality of the renal tubule
cardiomyopathy-cataract-hip spine disease syndrome	HP:0001635|Congestive heart failure;HP:0002204|Pulmonary embolism;HP:0002652|Skeletal dysplasia;HP:0000518|Cataract;HP:0001387|Joint stiffness;HP:0001654|Abnormality of the heart valves;HP:0011675|Arrhythmia;HP:0000822|Hypertension;HP:0004420|Arterial thrombosis;HP:0002758|Osteoarthritis;HP:0010885|Aseptic necrosis;HP:0001639|Hypertrophic cardiomyopathy;HP:0000926|Platyspondyly;HP:0005108|Abnormality of the intervertebral disk
ataxia-tapetoretinal degeneration syndrome	HP:0000639|Nystagmus;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0001251|Ataxia;HP:0001288|Gait disturbance;HP:0000505|Visual impairment;HP:0100543|Cognitive impairment;HP:0000547|Tapetoretinal degeneration;HP:0000580|Pigmentary retinopathy;HP:0001252|Muscular hypotonia
gingival fibromatosis-facial dysmorphism syndrome	HP:0000256|Macrocephaly;HP:0002263|Exaggerated cupid's bow;HP:0005280|Depressed nasal bridge;HP:0006482|Abnormality of dental morphology;HP:0000316|Hypertelorism;HP:0000664|Synophrys;HP:0000684|Delayed eruption of teeth;HP:0000212|Gingival overgrowth;HP:0000218|High palate;HP:0000494|Downslanted palpebral fissures;HP:0000574|Thick eyebrow;HP:0000232|Everted lower lip vermilion;HP:0000169|Gingival fibromatosis;HP:0000430|Underdeveloped nasal alae
x-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0000708|Behavioral abnormality;HP:0001250|Seizures;HP:0001263|Global developmental delay;HP:0001513|Obesity;HP:0000506|Telecanthus;HP:0010468|Aplasia/Hypoplasia of the testes;HP:0004299|Hernia of the abdominal wall;HP:0000992|Cutaneous photosensitivity;HP:0004322|Short stature;HP:0000486|Strabismus;HP:0001608|Abnormality of the voice;HP:0000368|Low-set, posteriorly rotated ears;HP:0000964|Eczema;HP:0008064|Ichthyosis;HP:0008736|Hypoplasia of penis;HP:0001249|Intellectual disability
intellectual disability-spasticity-ectrodactyly syndrome	HP:0001257|Spasticity;HP:0007598|Bilateral single transverse palmar creases;HP:0006101|Finger syndactyly;HP:0001258|Spastic paraplegia;HP:0001347|Hyperreflexia;HP:0003272|Abnormality of the hip bone;HP:0002817|Abnormality of the upper limb;HP:0004209|Clinodactyly of the 5th finger;HP:0001249|Intellectual disability
lissencephaly type 3-metacarpal bone dysplasia syndrome	HP:0002089|Pulmonary hypoplasia;HP:0006827|Atrophy of the spinal cord;HP:0006872|Cerebral hypoplasia;HP:0001321|Cerebellar hypoplasia;HP:0007190|Neuronal loss in the cerebral cortex;HP:0001339|Lissencephaly;HP:0008178|Abnormal cartilage matrix;HP:0003330|Abnormal bone structure;HP:0001762|Talipes equinovarus;HP:0001511|Intrauterine growth retardation;HP:0002804|Arthrogryposis multiplex congenita;HP:0001338|Partial agenesis of the corpus callosum;HP:0001302|Pachygyria;HP:0010049|Short metacarpal;HP:0012697|Small basal ganglia;HP:0000252|Microcephaly;HP:0003405|Diffuse axonal swelling;HP:0002134|Abnormality of the basal ganglia;HP:0002365|Hypoplasia of the brainstem;HP:0010655|Epiphyseal stippling;HP:0000282|Facial edema;HP:0009882|Short distal phalanx of finger;HP:0001561|Polyhydramnios
natal teeth-intestinal pseudoobstruction-patent ductus syndrome	HP:0002719|Recurrent infections;HP:0000695|Natal tooth;HP:0004313|Decreased antibody level in blood;HP:0001643|Patent ductus arteriosus;HP:0001671|Abnormality of the cardiac septa;HP:0002024|Malabsorption;HP:0000776|Congenital diaphragmatic hernia
multiple sclerosis-ichthyosis-factor viii deficiency syndrome	HP:0001251|Ataxia;HP:0000763|Sensory neuropathy;HP:0001288|Gait disturbance;HP:0001928|Abnormality of coagulation;HP:0002321|Vertigo;HP:0100654|Retrobulbar optic neuritis;HP:0007256|Abnormal pyramidal signs;HP:0000648|Optic atrophy;HP:0000651|Diplopia;HP:0004374|Hemiplegia/hemiparesis;HP:0008064|Ichthyosis;HP:0001881|Abnormality of leukocytes
proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome	HP:0000114|Proximal tubulopathy;HP:0001251|Ataxia;HP:0000618|Blindness;HP:0007400|Irregular hyperpigmentation;HP:0004322|Short stature;HP:0000365|Hearing impairment;HP:0000939|Osteoporosis;HP:0002019|Constipation;HP:0001508|Failure to thrive;HP:0001252|Muscular hypotonia;HP:0002120|Cerebral cortical atrophy;HP:0000508|Ptosis;HP:0000512|Abnormal electroretinogram;HP:0100651|Type I diabetes mellitus
craniosynostosis-cataract syndrome	HP:0000518|Cataract;HP:0004122|Midline defect of the nose;HP:0001363|Craniosynostosis
mirror polydactyly-vertebral segmentation-limbs defects syndrome	HP:0001171|Split hand;HP:0003422|Vertebral segmentation defect;HP:0004322|Short stature;HP:0009829|Phocomelia;HP:0005359|Aplasia of the thymus;HP:0001829|Foot polydactyly;HP:0002247|Duodenal atresia
phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome	HP:0003022|Hypoplasia of the ulna;HP:0004059|Radial club hand;HP:0006420|Asymmetric radial dysplasia;HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0010038|Short 2nd metacarpal;HP:0009813|Upper limb phocomelia;HP:0005288|Abnormality of the nares;HP:0005792|Short humerus;HP:0000402|Stenosis of the external auditory canal;HP:0006482|Abnormality of dental morphology;HP:0011675|Arrhythmia;HP:0003019|Abnormality of the wrist;HP:0000343|Long philtrum;HP:0009906|Aplasia/Hypoplasia of the earlobes;HP:0005105|Abnormal nasal morphology;HP:0008551|Microtia;HP:0009896|Abnormality of the antitragus;HP:0100257|Ectrodactyly;HP:0002002|Deep philtrum;HP:0000405|Conductive hearing impairment;HP:0003031|Ulnar bowing
mesomelic dwarfism-cleft palate-camptodactyly syndrome	HP:0000278|Retrognathia;HP:0000175|Cleft palate;HP:0002089|Pulmonary hypoplasia;HP:0003422|Vertebral segmentation defect;HP:0002101|Abnormal lung lobation;HP:0006487|Bowing of the long bones;HP:0003042|Elbow dislocation;HP:0003272|Abnormality of the hip bone;HP:0100490|Camptodactyly of finger;HP:0000368|Low-set, posteriorly rotated ears;HP:0003027|Mesomelia;HP:0005930|Abnormality of epiphysis morphology;HP:0000233|Thin vermilion border;HP:0010781|Skin dimples;HP:0005916|Abnormal metacarpal morphology;HP:0000944|Abnormality of the metaphyses;HP:0000396|Overfolded helix
scalp defects-postaxial polydactyly syndrome	HP:0005696|Postaxial polydactyly type A;HP:0002084|Encephalocele;HP:0002209|Sparse scalp hair;HP:0001362|Skull defect
pachygyria-intellectual disability-epilepsy syndrome	HP:0001263|Global developmental delay;HP:0001250|Seizures;HP:0001622|Premature birth;HP:0010864|Intellectual disability, severe
cataract-hypertrichosis-intellectual disability syndrome	HP:0002162|Low posterior hairline;HP:0000691|Microdontia;HP:0000519|Congenital cataract;HP:0002230|Generalized hirsutism;HP:0000174|Abnormality of the palate;HP:0005280|Depressed nasal bridge;HP:0000767|Pectus excavatum;HP:0001249|Intellectual disability
osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome	HP:0001250|Seizures;HP:0000504|Abnormality of vision;HP:0002757|Recurrent fractures;HP:0000648|Optic atrophy;HP:0002645|Wormian bones;HP:0011344|Severe global developmental delay;HP:0000478|Abnormality of the eye;HP:0001249|Intellectual disability
polycystic ovaries-urethral sphincter dysfunction syndrome	HP:0100518|Dysuria;HP:0001061|Acne;HP:0000132|Menorrhagia;HP:0000137|Abnormality of the ovary;HP:0000141|Amenorrhea;HP:0000016|Urinary retention;HP:0000020|Urinary incontinence;HP:0003457|EMG abnormality;HP:0001007|Hirsutism;HP:0000795|Abnormality of the urethra;HP:0000147|Polycystic ovaries;HP:0000876|Oligomenorrhea
piebald trait-neurologic defects syndrome	HP:0012733|Macule;HP:0001029|Poikiloderma;HP:0001251|Ataxia;HP:0007400|Irregular hyperpigmentation;HP:0000992|Cutaneous photosensitivity;HP:0001053|Hypopigmented skin patches;HP:0005599|Hypopigmentation of hair;HP:0001100|Heterochromia iridis;HP:0000499|Abnormality of the eyelashes;HP:0002251|Aganglionic megacolon;HP:0000407|Sensorineural hearing impairment;HP:0008069|Neoplasm of the skin;HP:0000534|Abnormality of the eyebrow;HP:0001249|Intellectual disability
infantile spasms-broad thumbs syndrome	HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0000347|Micrognathia;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0100672|Vaginal hernia;HP:0000518|Cataract;HP:0000543|Optic disc pallor;HP:0000444|Convex nasal ridge;HP:0000252|Microcephaly;HP:0011304|Broad thumb;HP:0000316|Hypertelorism;HP:0000235|Abnormality of the fontanelles or cranial sutures;HP:0002120|Cerebral cortical atrophy;HP:0001639|Hypertrophic cardiomyopathy;HP:0000494|Downslanted palpebral fissures
choroideremia-deafness-obesity syndrome	HP:0001513|Obesity;HP:0007945|Choroidal degeneration;HP:0000532|Chorioretinal abnormality;HP:0000486|Strabismus;HP:0000407|Sensorineural hearing impairment;HP:0001139|Choroideremia
camptodactyly-taurinuria syndrome	HP:0003166|Increased urinary taurine;HP:0100490|Camptodactyly of finger;HP:0001836|Camptodactyly of toe;HP:0003355|Aminoaciduria
exostoses-anetodermia-brachydactyly type e syndrome	HP:0004334|Dermal atrophy;HP:0008065|Aplasia/Hypoplasia of the skin;HP:0005863|Type E brachydactyly;HP:0012733|Macule;HP:0002762|Multiple exostoses
short stature-craniofacial anomalies-genital hypoplasia syndrome	HP:0000470|Short neck;HP:0004322|Short stature;HP:0008046|Abnormality of the retinal vasculature;HP:0001166|Arachnodactyly;HP:0000243|Trigonocephaly;HP:0001376|Limitation of joint mobility;HP:0006101|Finger syndactyly;HP:0012368|Flat face;HP:0002007|Frontal bossing;HP:0002564|Malformation of the heart and great vessels;HP:0008499|High-grade hypermetropia;HP:0009882|Short distal phalanx of finger;HP:0000316|Hypertelorism;HP:0000164|Abnormality of the teeth;HP:0000494|Downslanted palpebral fissures;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0000252|Microcephaly;HP:0009775|Amniotic constriction ring;HP:0000823|Delayed puberty;HP:0001249|Intellectual disability;HP:0001199|Triphalangeal thumb;HP:0000308|Microretrognathia;HP:0100490|Camptodactyly of finger;HP:0000368|Low-set, posteriorly rotated ears;HP:0008551|Microtia;HP:0004397|Ectopic anus;HP:0000821|Hypothyroidism
dysmorphism-pectus carinatum-joint laxity syndrome	HP:0000457|Depressed nasal ridge;HP:0000506|Telecanthus;HP:0002007|Frontal bossing;HP:0000444|Convex nasal ridge;HP:0000293|Full cheeks;HP:0005692|Joint hyperflexibility;HP:0010804|Tented upper lip vermilion;HP:0000272|Malar flattening;HP:0002857|Genu valgum;HP:0000768|Pectus carinatum;HP:0002002|Deep philtrum
seizures-intellectual disability due to hydroxylysinuria syndrome	HP:0002123|Generalized myoclonic seizures;HP:0003355|Aminoaciduria;HP:0001249|Intellectual disability
spastic paraparesis-deafness syndrome	HP:0000639|Nystagmus;HP:0001251|Ataxia;HP:0001288|Gait disturbance;HP:0000505|Visual impairment;HP:0000518|Cataract;HP:0004374|Hemiplegia/hemiparesis;HP:0001347|Hyperreflexia;HP:0004322|Short stature;HP:0100022|Abnormality of movement;HP:0002313|Spastic paraparesis;HP:0007328|Impaired pain sensation;HP:0000407|Sensorineural hearing impairment;HP:0000135|Hypogonadism
holoprosencephaly-postaxial polydactyly syndrome	HP:0000028|Cryptorchidism;HP:0000160|Narrow mouth;HP:0009914|Cyclopia;HP:0000568|Microphthalmia;HP:0002023|Anal atresia;HP:0001321|Cerebellar hypoplasia;HP:0000601|Hypotelorism;HP:0001360|Holoprosencephaly;HP:0005990|Thyroid hypoplasia;HP:0008736|Hypoplasia of penis;HP:0000047|Hypospadias;HP:0008678|Renal hypoplasia/aplasia;HP:0000347|Micrognathia;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0002101|Abnormal lung lobation;HP:0001537|Umbilical hernia;HP:0002564|Malformation of the heart and great vessels;HP:0001162|Postaxial hand polydactyly;HP:0100596|Absent nares;HP:0000062|Ambiguous genitalia;HP:0000175|Cleft palate;HP:0000252|Microcephaly;HP:0001539|Omphalocele;HP:0000835|Adrenal hypoplasia;HP:0010650|Hypoplasia of the premaxilla;HP:0000202|Oral cleft;HP:0001883|Talipes;HP:0000864|Abnormality of the hypothalamus-pituitary axis;HP:0100542|Abnormal localization of kidney;HP:0002566|Intestinal malrotation;HP:0000368|Low-set, posteriorly rotated ears;HP:0002084|Encephalocele;HP:0001252|Muscular hypotonia;HP:0000238|Hydrocephalus;HP:0001671|Abnormality of the cardiac septa;HP:0001561|Polyhydramnios
aniridia-renal agenesis-psychomotor retardation syndrome	HP:0001087|Congenital glaucoma;HP:0011498|Partial aniridia;HP:0000347|Micrognathia;HP:0001363|Craniosynostosis;HP:0007957|Corneal opacity;HP:0000506|Telecanthus;HP:0002007|Frontal bossing;HP:0000122|Unilateral renal agenesis;HP:0000463|Anteverted nares;HP:0000486|Strabismus;HP:0004322|Short stature;HP:0011342|Mild global developmental delay;HP:0001252|Muscular hypotonia;HP:0005280|Depressed nasal bridge;HP:0001334|Communicating hydrocephalus;HP:0002714|Downturned corners of mouth
muscular pseudohypertrophy-hypothyroidism syndrome	HP:0003326|Myalgia;HP:0001288|Gait disturbance;HP:0001324|Muscle weakness;HP:0001537|Umbilical hernia;HP:0004322|Short stature;HP:0003712|Skeletal muscle hypertrophy;HP:0002167|Neurological speech impairment;HP:0100543|Cognitive impairment;HP:0002019|Constipation;HP:0000158|Macroglossia;HP:0000280|Coarse facial features;HP:0003198|Myopathy;HP:0000952|Jaundice;HP:0002360|Sleep disturbance;HP:0000821|Hypothyroidism
dislocation of the hip-dysmorphism syndrome	HP:0000160|Narrow mouth;HP:0000286|Epicanthus;HP:0001374|Congenital hip dislocation;HP:0000079|Abnormality of the urinary system;HP:0001702|Abnormality of the tricuspid valve;HP:0000457|Depressed nasal ridge;HP:0011328|Abnormality of fontanelles;HP:0000364|Hearing abnormality;HP:0000463|Anteverted nares;HP:0005692|Joint hyperflexibility;HP:0000316|Hypertelorism;HP:0001643|Patent ductus arteriosus;HP:0010759|Premaxillary Prominence;HP:0000174|Abnormality of the palate;HP:0000272|Malar flattening;HP:0004097|Deviation of finger;HP:0000431|Wide nasal bridge;HP:0002815|Abnormality of the knee;HP:0000023|Inguinal hernia;HP:0001671|Abnormality of the cardiac septa
arthrogryposis multiplex congenita-whistling face syndrome	HP:0000160|Narrow mouth;HP:0003043|Abnormality of the shoulder;HP:0000581|Blepharophimosis;HP:0004322|Short stature;HP:0010751|Chin dimple;HP:0000346|Whistling appearance;HP:0000233|Thin vermilion border;HP:0000366|Abnormality of the nose;HP:0000347|Micrognathia;HP:0001511|Intrauterine growth retardation;HP:0011344|Severe global developmental delay;HP:0002714|Downturned corners of mouth;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0000293|Full cheeks;HP:0001181|Adducted thumb;HP:0000201|Pierre-Robin sequence;HP:0001387|Joint stiffness;HP:0000364|Hearing abnormality;HP:0000368|Low-set, posteriorly rotated ears;HP:0000174|Abnormality of the palate;HP:0001252|Muscular hypotonia;HP:0001231|Abnormality of the fingernails;HP:0001561|Polyhydramnios
non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome	HP:0006329|Alveolar process hypoplasia;HP:0006482|Abnormality of dental morphology;HP:0000668|Hypodontia;HP:0000368|Low-set, posteriorly rotated ears;HP:0000684|Delayed eruption of teeth;HP:0000272|Malar flattening;HP:0005439|Maxillozygomatic hypoplasia;HP:0002857|Genu valgum
fibular dimelia-diplopodia syndrome	HP:0009556|Absent tibia;HP:0030736|Sacrococcygeal teratoma;HP:0000271|Abnormality of the face
radioulnar synostosis-microcephaly-scoliosis syndrome	HP:0001263|Global developmental delay;HP:0002974|Radioulnar synostosis;HP:0000286|Epicanthus;HP:0006101|Finger syndactyly;HP:0007477|Abnormal dermatoglyphics;HP:0002750|Delayed skeletal maturation;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0004322|Short stature;HP:0000288|Abnormality of the philtrum;HP:0000664|Synophrys;HP:0000164|Abnormality of the teeth;HP:0001622|Premature birth;HP:0000574|Thick eyebrow;HP:0000772|Abnormality of the ribs;HP:0004209|Clinodactyly of the 5th finger;HP:0000768|Pectus carinatum;HP:0009811|Abnormality of the elbow;HP:0001249|Intellectual disability
intellectual disability-myopathy-short stature-endocrine defect syndrome	HP:0000044|Hypogonadotrophic hypogonadism;HP:0010864|Intellectual disability, severe;HP:0004303|Abnormality of muscle fibers;HP:0004322|Short stature;HP:0000545|Myopia;HP:0001519|Disproportionate tall stature;HP:0010628|Facial palsy;HP:0002575|Tracheoesophageal fistula;HP:0001376|Limitation of joint mobility;HP:0000508|Ptosis;HP:0008736|Hypoplasia of penis;HP:0002564|Malformation of the heart and great vessels;HP:0003307|Hyperlordosis;HP:0000316|Hypertelorism;HP:0002231|Sparse body hair;HP:0000772|Abnormality of the ribs;HP:0000494|Downslanted palpebral fissures;HP:0000324|Facial asymmetry;HP:0000252|Microcephaly;HP:0003272|Abnormality of the hip bone;HP:0004493|Craniofacial hyperostosis;HP:0004209|Clinodactyly of the 5th finger;HP:0000597|Ophthalmoparesis;HP:0000411|Protruding ear;HP:0000426|Prominent nasal bridge;HP:0002750|Delayed skeletal maturation;HP:0000377|Abnormality of the pinna;HP:0000174|Abnormality of the palate;HP:0000768|Pectus carinatum;HP:0003202|Skeletal muscle atrophy
short stature-deafness-neutrophil dysfunction-dysmorphism syndrome	HP:0001363|Craniosynostosis;HP:0002664|Neoplasm;HP:0010978|Abnormality of immune system physiology;HP:0000501|Glaucoma;HP:0004322|Short stature;HP:0002300|Mutism;HP:0000407|Sensorineural hearing impairment;HP:0004397|Ectopic anus
thin ribs-tubular bones-dysmorphism syndrome	HP:0000772|Abnormality of the ribs;HP:0003100|Slender long bone;HP:0000256|Macrocephaly;HP:0002007|Frontal bossing;HP:0000368|Low-set, posteriorly rotated ears;HP:0001511|Intrauterine growth retardation;HP:0000174|Abnormality of the palate;HP:0002644|Abnormality of pelvic girdle bone morphology
growth delay-hydrocephaly-lung hypoplasia syndrome	HP:0001744|Splenomegaly;HP:0000582|Upslanted palpebral fissure;HP:0000347|Micrognathia;HP:0002089|Pulmonary hypoplasia;HP:0006487|Bowing of the long bones;HP:0002410|Aqueductal stenosis;HP:0002814|Abnormality of the lower limb;HP:0002991|Abnormality of the fibula;HP:0001539|Omphalocele;HP:0002566|Intestinal malrotation;HP:0002514|Cerebral calcification;HP:0002986|Radial bowing;HP:0001511|Intrauterine growth retardation;HP:0000772|Abnormality of the ribs;HP:0100569|Abnormal vertebral ossification;HP:0009816|Lower limb undergrowth;HP:0002982|Tibial bowing
atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome	HP:0000028|Cryptorchidism;HP:0001633|Abnormality of the mitral valve;HP:0001327|Photomyoclonic seizures;HP:0004322|Short stature;HP:0001376|Limitation of joint mobility;HP:0000093|Proteinuria;HP:0100545|Arterial stenosis;HP:0002344|Progressive neurologic deterioration;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0003307|Hyperlordosis;HP:0000822|Hypertension;HP:0000112|Nephropathy;HP:0002120|Cerebral cortical atrophy;HP:0003287|Abnormality of mitochondrial metabolism;HP:0007201|Cerebral artery atherosclerosis;HP:0000407|Sensorineural hearing impairment;HP:0001903|Anemia;HP:0001276|Hypertonia;HP:0100651|Type I diabetes mellitus;HP:0001288|Gait disturbance;HP:0001337|Tremor;HP:0000100|Nephrotic syndrome;HP:0004929|Coronary atherosclerosis
craniodigital syndrome-intellectual disability syndrome	HP:0000347|Micrognathia;HP:0006101|Finger syndactyly;HP:0100874|Thick hair;HP:0003196|Short nose;HP:0004322|Short stature;HP:0010720|Abnormal hair pattern;HP:0003298|Spina bifida occulta;HP:0000248|Brachycephaly;HP:0000527|Long eyelashes;HP:0000574|Thick eyebrow;HP:0002230|Generalized hirsutism;HP:0000446|Narrow nasal bridge;HP:0007477|Abnormal dermatoglyphics;HP:0001249|Intellectual disability
holoprosencephaly-caudal dysgenesis syndrome	HP:0000924|Abnormality of the skeletal system;HP:0004059|Radial club hand;HP:0000520|Proptosis;HP:0000078|Abnormality of the genital system;HP:0000175|Cleft palate;HP:0009914|Cyclopia;HP:0000161|Median cleft lip;HP:0000369|Low-set ears;HP:0002818|Abnormality of the radius;HP:0010662|Abnormality of the diencephalon;HP:0000252|Microcephaly;HP:0000316|Hypertelorism;HP:0001360|Holoprosencephaly;HP:0001622|Premature birth;HP:0100659|Abnormality of the cerebral vasculature;HP:0000083|Renal insufficiency
infundibulopelvic stenosis-multicystic kidney syndrome	HP:0000003|Multicystic kidney dysplasia
holoprosencephaly-craniosynostosis syndrome	HP:0001357|Plagiocephaly;HP:0008479|Hypoplastic vertebral bodies;HP:0000286|Epicanthus;HP:0000324|Facial asymmetry;HP:0000582|Upslanted palpebral fissure;HP:0001363|Craniosynostosis;HP:0100543|Cognitive impairment;HP:0002750|Delayed skeletal maturation;HP:0000486|Strabismus;HP:0000252|Microcephaly;HP:0004322|Short stature;HP:0009882|Short distal phalanx of finger;HP:0012745|Short palpebral fissure;HP:0000248|Brachycephaly;HP:0000601|Hypotelorism;HP:0001360|Holoprosencephaly;HP:0001252|Muscular hypotonia;HP:0004209|Clinodactyly of the 5th finger;HP:0007703|Abnormality of retinal pigmentation;HP:0002673|Coxa valga;HP:0001156|Brachydactyly syndrome
intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	HP:0000639|Nystagmus;HP:0000160|Narrow mouth;HP:0010864|Intellectual disability, severe;HP:0010978|Abnormality of immune system physiology;HP:0002079|Hypoplasia of the corpus callosum;HP:0003196|Short nose;HP:0004322|Short stature;HP:0002119|Ventriculomegaly;HP:0006532|Recurrent pneumonia;HP:0000347|Micrognathia;HP:0002564|Malformation of the heart and great vessels;HP:0001522|Death in infancy;HP:0001511|Intrauterine growth retardation;HP:0001276|Hypertonia;HP:0000384|Preauricular skin tag;HP:0001510|Growth delay;HP:0002020|Gastroesophageal reflux;HP:0001250|Seizures;HP:0001608|Abnormality of the voice;HP:0000252|Microcephaly;HP:0000648|Optic atrophy;HP:0000411|Protruding ear;HP:0001883|Talipes;HP:0000348|High forehead;HP:0002750|Delayed skeletal maturation;HP:0100490|Camptodactyly of finger;HP:0000174|Abnormality of the palate
fibular aplasia-ectrodactyly syndrome	HP:0002997|Abnormality of the ulna;HP:0001622|Premature birth;HP:0001171|Split hand;HP:0006492|Aplasia/Hypoplasia of the fibula
ataxia-photosensitivity-short stature syndrome	HP:0001025|Urticaria;HP:0007598|Bilateral single transverse palmar creases;HP:0001251|Ataxia;HP:0001288|Gait disturbance;HP:0000958|Dry skin;HP:0000992|Cutaneous photosensitivity;HP:0002564|Malformation of the heart and great vessels;HP:0000486|Strabismus;HP:0002967|Cubitus valgus;HP:0004322|Short stature;HP:0100022|Abnormality of movement;HP:0100543|Cognitive impairment;HP:0000164|Abnormality of the teeth;HP:0000218|High palate;HP:0001315|Reduced tendon reflexes;HP:0004209|Clinodactyly of the 5th finger
x-linked intellectual disability-cubitus valgus-dysmorphism syndrome	HP:0000322|Short philtrum;HP:0001250|Seizures;HP:0000490|Deeply set eye;HP:0007598|Bilateral single transverse palmar creases;HP:0002342|Intellectual disability, moderate;HP:0002967|Cubitus valgus;HP:0004322|Short stature;HP:0000252|Microcephaly;HP:0001182|Tapered finger;HP:0001956|Truncal obesity;HP:0000995|Melanocytic nevus;HP:0001999|Abnormal facial shape;HP:0000272|Malar flattening;HP:0000218|High palate;HP:0000767|Pectus excavatum;HP:0002714|Downturned corners of mouth;HP:0000494|Downslanted palpebral fissures
cochleosaccular degeneration-cataract syndrome	HP:0000518|Cataract;HP:0001250|Seizures;HP:0005102|Cochlear degeneration;HP:0001251|Ataxia;HP:0000408|Progressive sensorineural hearing impairment
arterial dissection-lentiginosis syndrome	HP:0100026|Arteriovenous malformation;HP:0005294|Arterial dissection;HP:0001269|Hemiparesis;HP:0000995|Melanocytic nevus
macrosomia-microphthalmia-cleft palate syndrome	HP:0007957|Corneal opacity;HP:0000568|Microphthalmia;HP:0002093|Respiratory insufficiency;HP:0002205|Recurrent respiratory infections;HP:0009099|Median cleft palate;HP:0000235|Abnormality of the fontanelles or cranial sutures;HP:0002648|Abnormality of calvarial morphology;HP:0002240|Hepatomegaly;HP:0001520|Large for gestational age;HP:0000337|Broad forehead;HP:0000482|Microcornea
trichodysplasia-xeroderma syndrome	HP:0002552|Trichodysplasia;HP:0003777|Pili torti;HP:0001596|Alopecia;HP:0000958|Dry skin;HP:0000535|Sparse eyebrow;HP:0009886|Trichorrhexis nodosa;HP:0002209|Sparse scalp hair;HP:0002231|Sparse body hair;HP:0002299|Brittle hair;HP:0002208|Coarse hair
cerebellar ataxia-ectodermal dysplasia syndrome	HP:0000028|Cryptorchidism;HP:0000691|Microdontia;HP:0001251|Ataxia;HP:0001288|Gait disturbance;HP:0002167|Neurological speech impairment;HP:0002213|Fine hair;HP:0000668|Hypodontia;HP:0000325|Triangular face;HP:0008070|Sparse hair;HP:0000023|Inguinal hernia;HP:0000337|Broad forehead;HP:0001761|Pes cavus
short stature-valvular heart disease-characteristic facies syndrome	HP:0000678|Dental crowding;HP:0001634|Mitral valve prolapse;HP:0002750|Delayed skeletal maturation;HP:0001654|Abnormality of the heart valves;HP:0100729|Large face;HP:0003498|Disproportionate short stature;HP:0005692|Joint hyperflexibility;HP:0000164|Abnormality of the teeth;HP:0001252|Muscular hypotonia;HP:0000218|High palate;HP:0004209|Clinodactyly of the 5th finger;HP:0001642|Pulmonic stenosis;HP:0200055|Small hand;HP:0000508|Ptosis
microcornea-glaucoma-absent frontal sinuses syndrome	HP:0000286|Epicanthus;HP:0012368|Flat face;HP:0000505|Visual impairment;HP:0002688|Absent frontal sinuses;HP:0000929|Abnormality of the skull;HP:0000501|Glaucoma;HP:0100789|Torus palatinus;HP:0000311|Round face;HP:0000982|Palmoplantar keratoderma;HP:0000482|Microcornea
heart defects-limb shortening syndrome	HP:0001702|Abnormality of the tricuspid valve;HP:0000944|Abnormality of the metaphyses;HP:0003312|Abnormal form of the vertebral bodies;HP:0001633|Abnormality of the mitral valve;HP:0004414|Abnormality of the pulmonary artery;HP:0001629|Ventricular septal defect;HP:0003498|Disproportionate short stature;HP:0005026|Mesomelic/rhizomelic limb shortening;HP:0001522|Death in infancy;HP:0002808|Kyphosis;HP:0000774|Narrow chest;HP:0000772|Abnormality of the ribs;HP:0001631|Atrial septal defect;HP:0005616|Accelerated skeletal maturation
aniridia-ptosis-intellectual disability-familial obesity syndrome	HP:0007957|Corneal opacity;HP:0001627|Abnormal heart morphology;HP:0001596|Alopecia;HP:0000505|Visual impairment;HP:0000518|Cataract;HP:0005599|Hypopigmentation of hair;HP:0000545|Myopia;HP:0008053|Aplasia/Hypoplasia of the iris;HP:0009917|Persistent pupillary membrane;HP:0000508|Ptosis;HP:0001249|Intellectual disability
cleft palate-large ears-small head syndrome	HP:0000047|Hypospadias;HP:0001263|Global developmental delay;HP:0001800|Hypoplastic toenails;HP:0000175|Cleft palate;HP:0000347|Micrognathia;HP:0000411|Protruding ear;HP:0002750|Delayed skeletal maturation;HP:0004322|Short stature;HP:0000252|Microcephaly;HP:0009882|Short distal phalanx of finger;HP:0006709|Aplasia/Hypoplasia of the nipples;HP:0000400|Macrotia;HP:0009465|Ulnar deviation of finger;HP:0000212|Gingival overgrowth;HP:0001252|Muscular hypotonia;HP:0000767|Pectus excavatum;HP:0004428|Elfin facies;HP:0000508|Ptosis;HP:0003202|Skeletal muscle atrophy
hirschsprung disease-ganglioneuroblastoma syndrome	HP:0001250|Seizures;HP:0000975|Hyperhidrosis;HP:0004375|Neoplasm of the nervous system;HP:0000615|Abnormality of the pupil;HP:0001657|Prolonged QT interval;HP:0011675|Arrhythmia;HP:0002251|Aganglionic megacolon;HP:0006747|Ganglioneuroblastoma
craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome	HP:0000028|Cryptorchidism;HP:0000262|Turricephaly;HP:0006487|Bowing of the long bones;HP:0000239|Large fontanelles;HP:0000581|Blepharophimosis;HP:0001601|Laryngomalacia;HP:0003196|Short nose;HP:0001770|Toe syndactyly;HP:0000248|Brachycephaly;HP:0000238|Hydrocephalus;HP:0000233|Thin vermilion border;HP:0005280|Depressed nasal bridge;HP:0000337|Broad forehead;HP:0000047|Hypospadias;HP:0000347|Micrognathia;HP:0002342|Intellectual disability, moderate;HP:0001537|Umbilical hernia;HP:0000369|Low-set ears;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0000104|Renal agenesis;HP:0001643|Patent ductus arteriosus;HP:0007375|Abnormality of the septum pellucidum;HP:0002308|Arnold-Chiari malformation;HP:0004279|Short palm;HP:0001285|Spastic tetraparesis;HP:0001276|Hypertonia;HP:0002000|Short columella;HP:0001250|Seizures;HP:0002059|Cerebral atrophy;HP:0000089|Renal hypoplasia;HP:0000272|Malar flattening;HP:0006610|Wide intermamillary distance;HP:0002974|Radioulnar synostosis;HP:0001363|Craniosynostosis;HP:0001513|Obesity;HP:0000348|High forehead;HP:0000463|Anteverted nares;HP:0008551|Microtia;HP:0000054|Micropenis;HP:0000768|Pectus carinatum
night blindness-skeletal anomalies-dysmorphism syndrome	HP:0000670|Carious teeth;HP:0100543|Cognitive impairment;HP:0008046|Abnormality of the retinal vasculature;HP:0000545|Myopia;HP:0000366|Abnormality of the nose;HP:0000508|Ptosis;HP:0000512|Abnormal electroretinogram;HP:0001156|Brachydactyly syndrome;HP:0005692|Joint hyperflexibility;HP:0001276|Hypertonia;HP:0000494|Downslanted palpebral fissures;HP:0000286|Epicanthus;HP:0002650|Scoliosis;HP:0001100|Heterochromia iridis;HP:0000664|Synophrys;HP:0000272|Malar flattening;HP:0004209|Clinodactyly of the 5th finger;HP:0007703|Abnormality of retinal pigmentation;HP:0200021|Down-sloping shoulders;HP:0000278|Retrognathia;HP:0000368|Low-set, posteriorly rotated ears;HP:0000174|Abnormality of the palate;HP:0000662|Nyctalopia
brachydactyly-preaxial hallux varus syndrome	HP:0001231|Abnormality of the fingernails;HP:0004059|Radial club hand;HP:0001177|Preaxial hand polydactyly;HP:0000347|Micrognathia;HP:0002007|Frontal bossing;HP:0011304|Broad thumb;HP:0000664|Synophrys;HP:0000574|Thick eyebrow;HP:0000174|Abnormality of the palate;HP:0010743|Short metatarsal;HP:0000431|Wide nasal bridge;HP:0010049|Short metacarpal;HP:0001156|Brachydactyly syndrome
epilepsy-microcephaly-skeletal dysplasia syndrome	HP:0001250|Seizures;HP:0002750|Delayed skeletal maturation;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0001007|Hirsutism;HP:0000280|Coarse facial features;HP:0001249|Intellectual disability
microlissencephaly-micromelia syndrome	HP:0001263|Global developmental delay;HP:0004554|Generalized hypertrichosis;HP:0000470|Short neck;HP:0003196|Short nose;HP:0005484|Postnatal microcephaly;HP:0000878|11 pairs of ribs;HP:0001321|Cerebellar hypoplasia;HP:0001339|Lissencephaly;HP:0002098|Respiratory distress;HP:0007598|Bilateral single transverse palmar creases;HP:0000343|Long philtrum;HP:0001276|Hypertonia;HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0001284|Areflexia;HP:0001181|Adducted thumb;HP:0001508|Failure to thrive;HP:0010945|Fetal pyelectasis;HP:0000829|Hypoparathyroidism;HP:0000280|Coarse facial features;HP:0100530|Abnormality of calcium-phosphate metabolism;HP:0001252|Muscular hypotonia;HP:0002983|Micromelia;HP:0100540|Palpebral edema;HP:0001561|Polyhydramnios
spondylocostal dysostosis-anal and genitourinary malformations syndrome	HP:0002937|Hemivertebrae;HP:0000028|Cryptorchidism;HP:0000470|Short neck;HP:0000079|Abnormality of the urinary system;HP:0002652|Skeletal dysplasia;HP:0002023|Anal atresia;HP:0000068|Urethral atresia;HP:0002948|Vertebral fusion;HP:0000151|Aplasia of the uterus;HP:0002650|Scoliosis;HP:0003521|Disproportionate short-trunk short stature;HP:0000878|11 pairs of ribs;HP:0000126|Hydronephrosis;HP:0000042|Absent external genitalia;HP:0001562|Oligohydramnios;HP:0012621|Persistent cloaca;HP:0000774|Narrow chest;HP:0001511|Intrauterine growth retardation;HP:0000902|Rib fusion;HP:0001561|Polyhydramnios
x-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome	HP:0002353|EEG abnormality;HP:0001263|Global developmental delay;HP:0000411|Protruding ear;HP:0002187|Intellectual disability, profound;HP:0001288|Gait disturbance;HP:0000348|High forehead;HP:0000331|Short chin;HP:0004322|Short stature;HP:0000276|Long face;HP:0000252|Microcephaly;HP:0000325|Triangular face;HP:0001999|Abnormal facial shape;HP:0003189|Long nose;HP:0003198|Myopathy;HP:0001290|Generalized hypotonia;HP:0000718|Aggressive behavior;HP:0000194|Open mouth;HP:0011968|Feeding difficulties;HP:0003202|Skeletal muscle atrophy
splenogonadal fusion-limb defects-micrognathia syndrome	HP:0000028|Cryptorchidism;HP:0001357|Plagiocephaly;HP:0002023|Anal atresia;HP:0100543|Cognitive impairment;HP:0000358|Posteriorly rotated ears;HP:0002269|Abnormality of neuronal migration;HP:0000347|Micrognathia;HP:0002101|Abnormal lung lobation;HP:0002564|Malformation of the heart and great vessels;HP:0003019|Abnormality of the wrist;HP:0002823|Abnormality of the femur;HP:0009804|Reduced number of teeth;HP:0006283|Multiple unerupted teeth;HP:0001250|Seizures;HP:0002991|Abnormality of the fibula;HP:0000951|Abnormality of the skin;HP:0001622|Premature birth;HP:0100560|Upper limb asymmetry;HP:0000023|Inguinal hernia;HP:0002815|Abnormality of the knee;HP:0001385|Hip dysplasia;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0006333|Crowded maxillary incisors;HP:0100559|Lower limb asymmetry;HP:0000174|Abnormality of the palate;HP:0002817|Abnormality of the upper limb;HP:0000189|Narrow palate;HP:0000776|Congenital diaphragmatic hernia
congenital osteogenesis imperfecta-microcephaly-cataracts syndrome	HP:0008873|Disproportionate short-limb short stature;HP:0000028|Cryptorchidism;HP:0000772|Abnormality of the ribs;HP:0001195|Single umbilical artery;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0000518|Cataract;HP:0001629|Ventricular septal defect;HP:0000252|Microcephaly;HP:0002119|Ventriculomegaly;HP:0000316|Hypertelorism;HP:0002757|Recurrent fractures;HP:0000368|Low-set, posteriorly rotated ears;HP:0000592|Blue sclerae;HP:0005474|Decreased calvarial ossification;HP:0005692|Joint hyperflexibility;HP:0001511|Intrauterine growth retardation;HP:0000062|Ambiguous genitalia;HP:0004383|Hypoplastic left heart;HP:0002983|Micromelia;HP:0008736|Hypoplasia of penis;HP:0002269|Abnormality of neuronal migration
x-linked intellectual disability-ataxia-apraxia syndrome	HP:0001256|Intellectual disability, mild;HP:0001250|Seizures;HP:0001762|Talipes equinovarus;HP:0002186|Apraxia;HP:0001251|Ataxia
muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome	HP:0007703|Abnormality of retinal pigmentation;HP:0005978|Type II diabetes mellitus;HP:0003198|Myopathy;HP:0001251|Ataxia
woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome	HP:0001597|Abnormality of the nail;HP:0003777|Pili torti;HP:0000411|Protruding ear;HP:0000518|Cataract;HP:0001006|Hypotrichosis;HP:0000488|Retinopathy;HP:0002750|Delayed skeletal maturation;HP:0005599|Hypopigmentation of hair;HP:0002167|Neurological speech impairment;HP:0011675|Arrhythmia;HP:0000164|Abnormality of the teeth;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0001639|Hypertrophic cardiomyopathy;HP:0002299|Brittle hair;HP:0003764|Nevus;HP:0002224|Woolly hair;HP:0000232|Everted lower lip vermilion;HP:0001595|Abnormality of the hair;HP:0000982|Palmoplantar keratoderma
ectrodactyly-polydactyly syndrome	HP:0006101|Finger syndactyly;HP:0001163|Abnormality of the metacarpal bones;HP:0009773|Symphalangism affecting the phalanges of the hand;HP:0100490|Camptodactyly of finger;HP:0001162|Postaxial hand polydactyly;HP:0100257|Ectrodactyly;HP:0001156|Brachydactyly syndrome
flat face-microstomia-ear anomaly syndrome	HP:0000028|Cryptorchidism;HP:0000160|Narrow mouth;HP:0009912|Abnormality of the tragus;HP:0002553|Highly arched eyebrow;HP:0000535|Sparse eyebrow;HP:0000581|Blepharophimosis;HP:0010751|Chin dimple;HP:0003189|Long nose;HP:0000337|Broad forehead;HP:0000347|Micrognathia;HP:0012368|Flat face;HP:0000506|Telecanthus;HP:0000276|Long face;HP:0000343|Long philtrum;HP:0009906|Aplasia/Hypoplasia of the earlobes;HP:0002714|Downturned corners of mouth;HP:0009738|Abnormality of the antihelix;HP:0002650|Scoliosis;HP:0000046|Scrotal hypoplasia;HP:0000272|Malar flattening;HP:0009896|Abnormality of the antitragus;HP:0000431|Wide nasal bridge;HP:0000023|Inguinal hernia;HP:0002705|High, narrow palate;HP:0000348|High forehead;HP:0000400|Macrotia;HP:0000368|Low-set, posteriorly rotated ears;HP:0100490|Camptodactyly of finger;HP:0011830|Abnormality of oral mucosa;HP:0001611|Nasal speech;HP:0010669|Cheekbone underdevelopment;HP:0000430|Underdeveloped nasal alae
aphalangy-syndactyly-microcephaly syndrome	HP:0001830|Postaxial foot polydactyly;HP:0001800|Hypoplastic toenails;HP:0001802|Absent toenail;HP:0001798|Anonychia;HP:0001163|Abnormality of the metacarpal bones;HP:0000252|Microcephaly;HP:0004322|Short stature;HP:0009773|Symphalangism affecting the phalanges of the hand;HP:0001770|Toe syndactyly;HP:0100490|Camptodactyly of finger;HP:0001804|Hypoplastic fingernail;HP:0001839|Split foot;HP:0010185|Aplasia/Hypoplasia of the distal phalanges of the toes;HP:0009882|Short distal phalanx of finger
arthrogryposis-like hand anomaly-sensorineural deafness syndrome	HP:0000407|Sensorineural hearing impairment;HP:0004326|Cachexia;HP:0001387|Joint stiffness;HP:0004322|Short stature;HP:0001166|Arachnodactyly
macrostomia-preauricular tags-external ophthalmoplegia syndrome	HP:0011338|Abnormality of mouth shape;HP:0000154|Wide mouth;HP:0000384|Preauricular skin tag;HP:0000316|Hypertelorism;HP:0004467|Preauricular pit;HP:0011272|Underdeveloped tragus;HP:0000602|Ophthalmoplegia;HP:0000508|Ptosis
skeletal dysplasia-epilepsy-short stature syndrome	HP:0002353|EEG abnormality;HP:0001250|Seizures;HP:0001385|Hip dysplasia;HP:0002866|Hypoplastic iliac wing;HP:0002652|Skeletal dysplasia;HP:0000303|Mandibular prognathia;HP:0004322|Short stature;HP:0002650|Scoliosis;HP:0009882|Short distal phalanx of finger;HP:0000164|Abnormality of the teeth;HP:0001156|Brachydactyly syndrome;HP:0002808|Kyphosis;HP:0000689|Dental malocclusion;HP:0003212|Increased IgE level;HP:0001249|Intellectual disability
tubular renal disease-cardiomyopathy syndrome	HP:0001635|Congestive heart failure;HP:0002829|Arthralgia;HP:0001645|Sudden cardiac death;HP:0002150|Hypercalciuria;HP:0001960|Hypokalemic metabolic alkalosis;HP:0012608|Hypermagnesiuria;HP:0002917|Hypomagnesemia;HP:0002901|Hypocalcemia;HP:0000121|Nephrocalcinosis;HP:0003472|Hypocalcemic tetany;HP:0003739|Myoclonic spasms;HP:0001644|Dilated cardiomyopathy;HP:0100598|Pulmonary edema;HP:0003527|Hyperprostaglandinuria;HP:0002069|Generalized tonic-clonic seizures;HP:0000859|Hyperaldosteronism;HP:0011038|Abnormality of renal resorption;HP:0001698|Pericardial effusion
white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome	HP:0012430|Cerebral white matter hypoplasia;HP:0007360|Aplasia/Hypoplasia of the cerebellum;HP:0000347|Micrognathia;HP:0007370|Aplasia/Hypoplasia of the corpus callosum;HP:0002007|Frontal bossing;HP:0001347|Hyperreflexia;HP:0004322|Short stature;HP:0000252|Microcephaly;HP:0002119|Ventriculomegaly;HP:0000316|Hypertelorism;HP:0001181|Adducted thumb;HP:0000664|Synophrys;HP:0001249|Intellectual disability;HP:0002120|Cerebral cortical atrophy;HP:0001252|Muscular hypotonia;HP:0000431|Wide nasal bridge;HP:0000494|Downslanted palpebral fissures
trichodysplasia-amelogenesis imperfecta syndrome	HP:0000705|Amelogenesis imperfecta;HP:0002552|Trichodysplasia;HP:0200115|Scalp hair loss
deafness-epiphyseal dysplasia-short stature syndrome	HP:0001256|Intellectual disability, mild;HP:0001263|Global developmental delay;HP:0006499|Abnormality of femoral epiphysis;HP:0000470|Short neck;HP:0003312|Abnormal form of the vertebral bodies;HP:0000579|Nasolacrimal duct obstruction;HP:0002007|Frontal bossing;HP:0001537|Umbilical hernia;HP:0000307|Pointed chin;HP:0003307|Hyperlordosis;HP:0000541|Retinal detachment;HP:0000545|Myopia;HP:0002167|Neurological speech impairment;HP:0000365|Hearing impairment;HP:0000325|Triangular face;HP:0004322|Short stature;HP:0000023|Inguinal hernia;HP:0010306|Short thorax;HP:0001156|Brachydactyly syndrome
familial cervical artery dissection	HP:0001297|Stroke;HP:0012158|Carotid artery dissection;HP:0001065|Striae distensae;HP:0003549|Abnormality of connective tissue;HP:0002637|Cerebral ischemia;HP:0010628|Facial palsy;HP:0000963|Thin skin;HP:0003401|Paresthesia;HP:0012163|Carotid artery aneurysm;HP:0003119|Abnormality of lipid metabolism;HP:0000822|Hypertension;HP:0002138|Subarachnoid hemorrhage;HP:0003470|Paralysis;HP:0004944|Cerebral aneurysm;HP:0002076|Migraine;HP:0002326|Transient ischemic attack;HP:0002357|Dysphasia;HP:0005313|Arterial fibromuscular dysplasia;HP:0000819|Diabetes mellitus;HP:0004968|Recurrent cerebral hemorrhage;HP:0005302|Carotid artery tortuosity;HP:0002315|Headache
hepatic fibrosis-renal cysts-intellectual disability syndrome	HP:0000639|Nystagmus;HP:0000581|Blepharophimosis;HP:0003196|Short nose;HP:0004322|Short stature;HP:0002119|Ventriculomegaly;HP:0007477|Abnormal dermatoglyphics;HP:0000508|Ptosis;HP:0000107|Renal cyst;HP:0000486|Strabismus;HP:0002435|Meningocele;HP:0001276|Hypertonia;HP:0000478|Abnormality of the eye;HP:0002612|Congenital hepatic fibrosis;HP:0001250|Seizures;HP:0000003|Multicystic kidney dysplasia;HP:0002093|Respiratory insufficiency;HP:0100022|Abnormality of movement;HP:0000162|Glossoptosis;HP:0004209|Clinodactyly of the 5th finger;HP:0001249|Intellectual disability;HP:0000411|Protruding ear;HP:0000567|Chorioretinal coloboma;HP:0000504|Abnormality of vision;HP:0000505|Visual impairment;HP:0000364|Hearing abnormality;HP:0000463|Anteverted nares;HP:0004422|Biparietal narrowing;HP:0000368|Low-set, posteriorly rotated ears;HP:0000430|Underdeveloped nasal alae
cortical blindness-intellectual disability-polydactyly syndrome	HP:0004326|Cachexia;HP:0002205|Recurrent respiratory infections;HP:0001347|Hyperreflexia;HP:0003196|Short nose;HP:0000308|Microretrognathia;HP:0004322|Short stature;HP:0000343|Long philtrum;HP:0001162|Postaxial hand polydactyly;HP:0000649|Abnormality of visual evoked potentials;HP:0000174|Abnormality of the palate;HP:0011220|Prominent forehead;HP:0100704|Cortical visual impairment;HP:0001276|Hypertonia;HP:0001249|Intellectual disability
epiphyseal dysplasia-hearing loss-dysmorphism syndrome	HP:0004322|Short stature;HP:0005280|Depressed nasal bridge;HP:0007477|Abnormal dermatoglyphics;HP:0000508|Ptosis;HP:0006101|Finger syndactyly;HP:0000154|Wide mouth;HP:0001053|Hypopigmented skin patches;HP:0003019|Abnormality of the wrist;HP:0000316|Hypertelorism;HP:0000343|Long philtrum;HP:0001172|Abnormality of the thumb;HP:0000407|Sensorineural hearing impairment;HP:0000708|Behavioral abnormality;HP:0000286|Epicanthus;HP:0000324|Facial asymmetry;HP:0001250|Seizures;HP:0002650|Scoliosis;HP:0009623|Proximal placement of thumb;HP:0000823|Delayed puberty;HP:0000431|Wide nasal bridge;HP:0001249|Intellectual disability;HP:0002750|Delayed skeletal maturation;HP:0000463|Anteverted nares;HP:0100542|Abnormal localization of kidney;HP:0002002|Deep philtrum
mitochondrial myopathy-lactic acidosis-deafness syndrome	HP:0001250|Seizures;HP:0001942|Metabolic acidosis;HP:0004320|Vaginal fistula;HP:0003457|EMG abnormality;HP:0003198|Myopathy;HP:0003737|Mitochondrial myopathy;HP:0000407|Sensorineural hearing impairment;HP:0003348|Hyperalaninemia;HP:0003202|Skeletal muscle atrophy
blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome	HP:0006482|Abnormality of dental morphology;HP:0000164|Abnormality of the teeth;HP:0000508|Ptosis;HP:0001800|Hypoplastic toenails;HP:0100629|Midline facial cleft
hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome	HP:0012733|Macule;HP:0007400|Irregular hyperpigmentation;HP:0001053|Hypopigmented skin patches;HP:0004322|Short stature;HP:0000252|Microcephaly;HP:0001249|Intellectual disability;HP:0000772|Abnormality of the ribs;HP:0000995|Melanocytic nevus
microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome	HP:0000556|Retinal dystrophy;HP:0011502|Posterior lenticonus;HP:0000567|Chorioretinal coloboma;HP:0000568|Microphthalmia;HP:0007968|Persistent hyperplastic primary vitreous;HP:0000612|Iris coloboma;HP:0000482|Microcornea
ulnar hypoplasia-split foot syndrome	HP:0003022|Hypoplasia of the ulna;HP:0001171|Split hand;HP:0001839|Split foot;HP:0006501|Aplasia/Hypoplasia of the radius
distal limb deficiencies-micrognathia syndrome	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0000160|Narrow mouth;HP:0004322|Short stature;HP:0000545|Myopia;HP:0000218|High palate;HP:0000093|Proteinuria;HP:0000083|Renal insufficiency;HP:0002342|Intellectual disability, moderate;HP:0008368|Tarsal synostosis;HP:0003019|Abnormality of the wrist;HP:0000407|Sensorineural hearing impairment;HP:0002916|Abnormality of chromosome segregation;HP:0000175|Cleft palate;HP:0000256|Macrocephaly;HP:0000327|Hypoplasia of the maxilla;HP:0001163|Abnormality of the metacarpal bones;HP:0000089|Renal hypoplasia;HP:0012165|Oligodactyly;HP:0000405|Conductive hearing impairment;HP:0003028|Abnormality of the ankles;HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0000426|Prominent nasal bridge;HP:0000691|Microdontia;HP:0006501|Aplasia/Hypoplasia of the radius;HP:0000308|Microretrognathia;HP:0000368|Low-set, posteriorly rotated ears;HP:0000171|Microglossia;HP:0001839|Split foot;HP:0002997|Abnormality of the ulna
posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome	HP:0005626|Posterior fusion of lumbosacral vertebrae;HP:0003312|Abnormal form of the vertebral bodies;HP:0008368|Tarsal synostosis;HP:0001387|Joint stiffness;HP:0000960|Sacral dimple;HP:0000508|Ptosis
coloboma of macula-brachydactyly type b syndrome	HP:0000567|Chorioretinal coloboma;HP:0004322|Short stature;HP:0005831|Type B brachydactyly;HP:0011304|Broad thumb;HP:0100490|Camptodactyly of finger;HP:0000104|Renal agenesis;HP:0001817|Absent fingernail;HP:0100798|Fingernail dysplasia;HP:0009882|Short distal phalanx of finger
macrocephaly-spastic paraplegia-dysmorphism syndrome	HP:0100874|Thick hair;HP:0003196|Short nose;HP:0000336|Prominent supraorbital ridges;HP:0000232|Everted lower lip vermilion;HP:0000337|Broad forehead;HP:0001257|Spasticity;HP:0000490|Deeply set eye;HP:0000154|Wide mouth;HP:0000303|Mandibular prognathia;HP:0000574|Thick eyebrow;HP:0001250|Seizures;HP:0001288|Gait disturbance;HP:0000256|Macrocephaly;HP:0002650|Scoliosis;HP:0000664|Synophrys;HP:0002808|Kyphosis;HP:0001249|Intellectual disability;HP:0000322|Short philtrum;HP:0002162|Low posterior hairline;HP:0000219|Thin upper lip vermilion;HP:0000348|High forehead;HP:0001347|Hyperreflexia;HP:0001956|Truncal obesity;HP:0000280|Coarse facial features
radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome	HP:0000047|Hypospadias;HP:0005725|Nonopposable triphalangeal thumb;HP:0002984|Hypoplasia of the radius;HP:0000303|Mandibular prognathia;HP:0007477|Abnormal dermatoglyphics;HP:0002983|Micromelia
microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome	HP:0001263|Global developmental delay;HP:0010864|Intellectual disability, severe;HP:0004322|Short stature;HP:0001629|Ventricular septal defect;HP:0000233|Thin vermilion border;HP:0001376|Limitation of joint mobility;HP:0010761|Broad columella;HP:0000337|Broad forehead;HP:0010550|Paraplegia;HP:0001257|Spasticity;HP:0007598|Bilateral single transverse palmar creases;HP:0006101|Finger syndactyly;HP:0002558|Supernumerary nipple;HP:0001511|Intrauterine growth retardation;HP:0002451|Limb dystonia;HP:0001773|Short foot;HP:0001864|Clinodactyly of the 5th toe;HP:0000494|Downslanted palpebral fissures;HP:0001510|Growth delay;HP:0001250|Seizures;HP:0010580|Enlarged epiphyses;HP:0000252|Microcephaly;HP:0000648|Optic atrophy;HP:0000431|Wide nasal bridge;HP:0001792|Small nail;HP:0000322|Short philtrum;HP:0010624|Aplastic/hypoplastic toenail;HP:0001252|Muscular hypotonia;HP:0000430|Underdeveloped nasal alae
lymphedema-cerebral arteriovenous anomaly syndrome	HP:0100659|Abnormality of the cerebral vasculature;HP:0001004|Lymphedema
tracheo-esophageal fistula-hypospadias syndrome	HP:0000047|Hypospadias;HP:0011100|Intestinal atresia;HP:0003422|Vertebral segmentation defect;HP:0002257|Chronic rhinitis;HP:0001561|Polyhydramnios;HP:0002575|Tracheoesophageal fistula;HP:0005242|Extrahepatic biliary duct atresia;HP:0002594|Pancreatic hypoplasia
cleft lip-retinopathy syndrome	HP:0000505|Visual impairment;HP:0007703|Abnormality of retinal pigmentation;HP:0000488|Retinopathy;HP:0100335|Non-midline cleft lip
glaucoma-sleep apnea syndrome	HP:0000501|Glaucoma;HP:0010535|Sleep apnea;HP:0002093|Respiratory insufficiency
steroid dehydrogenase deficiency-dental anomalies syndrome	HP:0001399|Hepatic failure;HP:0000682|Abnormality of dental enamel;HP:0006297|Hypoplasia of dental enamel;HP:0011069|Increased number of teeth
cystic fibrosis-gastritis-megaloblastic anemia syndrome	HP:0000047|Hypospadias;HP:0000490|Deeply set eye;HP:0000347|Micrognathia;HP:0000506|Telecanthus;HP:0000807|Glandular hypospadias;HP:0002007|Frontal bossing;HP:0002205|Recurrent respiratory infections;HP:0001889|Megaloblastic anemia;HP:0002014|Diarrhea;HP:0004826|Folate-unresponsive megaloblastic anemia;HP:0005263|Gastritis;HP:0000100|Nephrotic syndrome;HP:0000316|Hypertelorism;HP:0000400|Macrotia;HP:0000049|Shawl scrotum;HP:0000431|Wide nasal bridge;HP:0001877|Abnormality of erythrocytes;HP:0001249|Intellectual disability
ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome	HP:0000506|Telecanthus;HP:0001092|Absent lacrimal punctum;HP:0000496|Abnormality of eye movement;HP:0000327|Hypoplasia of the maxilla;HP:0002553|Highly arched eyebrow;HP:0000308|Microretrognathia;HP:0000463|Anteverted nares;HP:0005180|Tricuspid regurgitation;HP:0000343|Long philtrum;HP:0004422|Biparietal narrowing;HP:0000561|Absent eyelashes;HP:0000358|Posteriorly rotated ears;HP:0000377|Abnormality of the pinna;HP:0000574|Thick eyebrow;HP:0004209|Clinodactyly of the 5th finger;HP:0012471|Thick vermilion border;HP:0000508|Ptosis;HP:0000340|Sloping forehead
aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome	HP:0002937|Hemivertebrae;HP:0008678|Renal hypoplasia/aplasia;HP:0002089|Pulmonary hypoplasia;HP:0006101|Finger syndactyly;HP:0010173|Aplasia/Hypoplasia of the phalanges of the toes;HP:0004320|Vaginal fistula;HP:0009767|Aplasia/Hypoplasia of the phalanges of the hand;HP:0001798|Anonychia;HP:0001163|Abnormality of the metacarpal bones;HP:0003042|Elbow dislocation;HP:0001555|Asymmetry of the thorax;HP:0001643|Patent ductus arteriosus;HP:0001562|Oligohydramnios;HP:0001770|Toe syndactyly;HP:0001839|Split foot;HP:0012621|Persistent cloaca;HP:0000055|Abnormality of female external genitalia;HP:0002644|Abnormality of pelvic girdle bone morphology
duane anomaly-myopathy-scoliosis syndrome	HP:0000639|Nystagmus;HP:0003508|Proportionate short stature;HP:0000505|Visual impairment;HP:0001270|Motor delay;HP:0009921|Duane anomaly;HP:0002750|Delayed skeletal maturation;HP:0000486|Strabismus;HP:0000252|Microcephaly;HP:0002650|Scoliosis;HP:0003198|Myopathy;HP:0001252|Muscular hypotonia
cataract-aberrant oral frenula-growth delay syndrome	HP:0000286|Epicanthus;HP:0000518|Cataract;HP:0001537|Umbilical hernia;HP:0001048|Cavernous hemangioma;HP:0004322|Short stature;HP:0008499|High-grade hypermetropia;HP:0000368|Low-set, posteriorly rotated ears;HP:0000191|Accessory oral frenulum;HP:0000023|Inguinal hernia;HP:0000508|Ptosis
thakker-donnai syndrome	HP:0000160|Narrow mouth;HP:0000470|Short neck;HP:0001274|Agenesis of corpus callosum;HP:0002023|Anal atresia;HP:0001629|Ventricular septal defect;HP:0000358|Posteriorly rotated ears;HP:0000143|Rectovaginal fistula;HP:0002575|Tracheoesophageal fistula;HP:0002937|Hemivertebrae;HP:0000582|Upslanted palpebral fissure;HP:0000126|Hydronephrosis;HP:0000465|Webbed neck;HP:0000316|Hypertelorism;HP:0001636|Tetralogy of Fallot;HP:0001511|Intrauterine growth retardation;HP:0001334|Communicating hydrocephalus;HP:0002714|Downturned corners of mouth;HP:0004602|Cervical vertebral fusion (C2/C3);HP:0000463|Anteverted nares;HP:0001669|Transposition of the great arteries;HP:0000400|Macrotia;HP:0000637|Long palpebral fissure;HP:0001252|Muscular hypotonia;HP:0000414|Bulbous nose;HP:0000776|Congenital diaphragmatic hernia
pulmonary atresia-intact ventricular septum syndrome	HP:0001702|Abnormality of the tricuspid valve;HP:0004935|Pulmonary artery atresia;HP:0001643|Patent ductus arteriosus;HP:0001622|Premature birth;HP:0009800|Maternal diabetes
hydrocephalus-obesity-hypogonadism syndrome	HP:0002705|High, narrow palate;HP:0002162|Low posterior hairline;HP:0001256|Intellectual disability, mild;HP:0000470|Short neck;HP:0007464|Sparse facial hair;HP:0000771|Gynecomastia;HP:0001634|Mitral valve prolapse;HP:0001513|Obesity;HP:0000815|Hypergonadotropic hypogonadism;HP:0002550|Absent facial hair;HP:0002967|Cubitus valgus;HP:0004322|Short stature;HP:0000027|Azoospermia;HP:0010044|Short 4th metacarpal;HP:0000238|Hydrocephalus
pelvic dysplasia-arthrogryposis of lower limbs syndrome	HP:0008839|Hypoplastic pelvis;HP:0003100|Slender long bone;HP:0001288|Gait disturbance;HP:0003298|Spina bifida occulta;HP:0002827|Hip dislocation;HP:0000592|Blue sclerae;HP:0010767|Sacrococcygeal pilonidal abnormality;HP:0005280|Depressed nasal bridge;HP:0001376|Limitation of joint mobility;HP:0003202|Skeletal muscle atrophy
microcephaly-deafness-intellectual disability syndrome	HP:0000286|Epicanthus;HP:0000324|Facial asymmetry;HP:0000347|Micrognathia;HP:0000411|Protruding ear;HP:0002057|Prominent glabella;HP:0000369|Low-set ears;HP:0004322|Short stature;HP:0000252|Microcephaly;HP:0002167|Neurological speech impairment;HP:0000174|Abnormality of the palate;HP:0000378|Cupped ear;HP:0000407|Sensorineural hearing impairment;HP:0000232|Everted lower lip vermilion;HP:0000384|Preauricular skin tag;HP:0001249|Intellectual disability
brain malformation-congenital heart disease-postaxial polydactyly syndrome	HP:0008404|Nail dystrophy;HP:0004322|Short stature;HP:0001629|Ventricular septal defect;HP:0001321|Cerebellar hypoplasia;HP:0002299|Brittle hair;HP:0005280|Depressed nasal bridge;HP:0000232|Everted lower lip vermilion;HP:0001631|Atrial septal defect;HP:0000582|Upslanted palpebral fissure;HP:0006817|Aplasia/Hypoplasia of the cerebellar vermis;HP:0000343|Long philtrum;HP:0001162|Postaxial hand polydactyly;HP:0001511|Intrauterine growth retardation;HP:0011344|Severe global developmental delay;HP:0002208|Coarse hair;HP:0004415|Pulmonary artery stenosis;HP:0011757|Posterior pituitary hypoplasia;HP:0000089|Renal hypoplasia;HP:0011747|Abnormality of the anterior pituitary;HP:0006610|Wide intermamillary distance;HP:0001596|Alopecia;HP:0000463|Anteverted nares;HP:0000377|Abnormality of the pinna;HP:0001252|Muscular hypotonia
intellectual disability-polydactyly-uncombable hair syndrome	HP:0000028|Cryptorchidism;HP:0000470|Short neck;HP:0010978|Abnormality of immune system physiology;HP:0004322|Short stature;HP:0030056|Uncombable hair;HP:0001770|Toe syndactyly;HP:0000601|Hypotelorism;HP:0005930|Abnormality of epiphysis morphology;HP:0008736|Hypoplasia of penis;HP:0000582|Upslanted palpebral fissure;HP:0000347|Micrognathia;HP:0004299|Hernia of the abdominal wall;HP:0000303|Mandibular prognathia;HP:0002007|Frontal bossing;HP:0001162|Postaxial hand polydactyly;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0009906|Aplasia/Hypoplasia of the earlobes;HP:0000772|Abnormality of the ribs;HP:0001991|Aplasia/Hypoplasia of toe;HP:0009738|Abnormality of the antihelix;HP:0010508|Metatarsus valgus;HP:0002808|Kyphosis;HP:0009896|Abnormality of the antitragus;HP:0004209|Clinodactyly of the 5th finger;HP:0001595|Abnormality of the hair;HP:0010059|Broad hallux phalanx;HP:0000405|Conductive hearing impairment;HP:0001249|Intellectual disability;HP:0006265|Aplasia/Hypoplasia of fingers;HP:0006610|Wide intermamillary distance;HP:0002217|Slow-growing hair;HP:0000174|Abnormality of the palate;HP:0000446|Narrow nasal bridge;HP:0000768|Pectus carinatum
anonychia-microcephaly syndrome	HP:0000670|Carious teeth;HP:0010624|Aplastic/hypoplastic toenail;HP:0007598|Bilateral single transverse palmar creases;HP:0001798|Anonychia;HP:0000252|Microcephaly;HP:0000164|Abnormality of the teeth;HP:0004209|Clinodactyly of the 5th finger;HP:0000340|Sloping forehead
cataract-intellectual disability-anal atresia-urinary defects syndrome	HP:0000639|Nystagmus;HP:0000028|Cryptorchidism;HP:0000047|Hypospadias;HP:0008063|Aplasia/Hypoplasia of the lens;HP:0002023|Anal atresia;HP:0000518|Cataract;HP:0000486|Strabismus;HP:0001636|Tetralogy of Fallot;HP:0000174|Abnormality of the palate;HP:0002857|Genu valgum;HP:0008736|Hypoplasia of penis;HP:0001249|Intellectual disability
deafness-ear malformation-facial palsy syndrome	HP:0009738|Abnormality of the antihelix;HP:0008628|Abnormality of the stapes;HP:0000383|Abnormality of periauricular region;HP:0010628|Facial palsy;HP:0009906|Aplasia/Hypoplasia of the earlobes;HP:0009739|Hypoplasia of the antihelix;HP:0008572|External ear malformation;HP:0000405|Conductive hearing impairment
sparse hair-short stature-skin anomalies syndrome	HP:0003502|Mild short stature;HP:0002209|Sparse scalp hair;HP:0000951|Abnormality of the skin;HP:0000953|Hyperpigmentation of the skin;HP:0006315|Single median maxillary incisor;HP:0000982|Palmoplantar keratoderma;HP:0009778|Short thumb
cataract-nephropathy-encephalopathy syndrome	HP:0000639|Nystagmus;HP:0001250|Seizures;HP:0000518|Cataract;HP:0004322|Short stature;HP:0000124|Renal tubular dysfunction;HP:0001249|Intellectual disability
disorder of sex development-intellectual disability syndrome	HP:0000470|Short neck;HP:0003196|Short nose;HP:0010720|Abnormal hair pattern;HP:0008625|Severe sensorineural hearing impairment;HP:0000233|Thin vermilion border;HP:0010306|Short thorax;HP:0000135|Hypogonadism;HP:0008736|Hypoplasia of penis;HP:0000490|Deeply set eye;HP:0003298|Spina bifida occulta;HP:0002714|Downturned corners of mouth;HP:0000271|Abnormality of the face;HP:0000046|Scrotal hypoplasia;HP:0000664|Synophrys;HP:0002808|Kyphosis;HP:0002857|Genu valgum;HP:0006610|Wide intermamillary distance;HP:0001249|Intellectual disability;HP:0000322|Short philtrum;HP:0002162|Low posterior hairline;HP:0000368|Low-set, posteriorly rotated ears;HP:0004349|Reduced bone mineral density;HP:0008551|Microtia
craniosynostosis-anal anomalies-porokeratosis syndrome	HP:0001263|Global developmental delay;HP:0001357|Plagiocephaly;HP:0000520|Proptosis;HP:0002023|Anal atresia;HP:0000682|Abnormality of dental enamel;HP:0000365|Hearing impairment;HP:0000248|Brachycephaly;HP:0000561|Absent eyelashes;HP:0002697|Parietal foramina;HP:0010306|Short thorax;HP:0000047|Hypospadias;HP:0000347|Micrognathia;HP:0008368|Tarsal synostosis;HP:0002007|Frontal bossing;HP:0000154|Wide mouth;HP:0006482|Abnormality of dental morphology;HP:0002223|Absent eyebrow;HP:0012471|Thick vermilion border;HP:0000889|Abnormality of the clavicle;HP:0000175|Cleft palate;HP:0006660|Aplastic clavicles;HP:0000260|Wide anterior fontanel;HP:0002808|Kyphosis;HP:0004491|Large posterior fontanelle;HP:0000272|Malar flattening;HP:0001249|Intellectual disability;HP:0012742|Thin fingernail;HP:0200044|Porokeratosis;HP:0002750|Delayed skeletal maturation;HP:0000964|Eczema;HP:0000174|Abnormality of the palate;HP:0100589|Urogenital fistula;HP:0004397|Ectopic anus;HP:0004440|Coronal craniosynostosis;HP:0000270|Delayed cranial suture closure
atrioventricular defect-blepharophimosis-radial and anal defect syndrome	HP:0010035|Aplasia of the 1st metacarpal;HP:0000568|Microphthalmia;HP:0001336|Myoclonus;HP:0002023|Anal atresia;HP:0000581|Blepharophimosis;HP:0001545|Anteriorly placed anus;HP:0000582|Upslanted palpebral fissure;HP:0000347|Micrognathia;HP:0003974|Absent radius;HP:0000486|Strabismus;HP:0001511|Intrauterine growth retardation;HP:0003022|Hypoplasia of the ulna;HP:0001107|Ocular albinism;HP:0000252|Microcephaly;HP:0000119|Abnormality of the genitourinary system;HP:0004209|Clinodactyly of the 5th finger;HP:0000431|Wide nasal bridge;HP:0009601|Aplasia/Hypoplasia of the thumb;HP:0000364|Hearing abnormality;HP:0000378|Cupped ear;HP:0008551|Microtia;HP:0001671|Abnormality of the cardiac septa
conductive deafness-ptosis-skeletal anomalies syndrome	HP:0000413|Atresia of the external auditory canal;HP:0000286|Epicanthus;HP:0007598|Bilateral single transverse palmar creases;HP:0000682|Abnormality of dental enamel;HP:0007477|Abnormal dermatoglyphics;HP:0000581|Blepharophimosis;HP:0000545|Myopia;HP:0002213|Fine hair;HP:0003042|Elbow dislocation;HP:0003272|Abnormality of the hip bone;HP:0000174|Abnormality of the palate;HP:0000446|Narrow nasal bridge;HP:0004209|Clinodactyly of the 5th finger;HP:0000508|Ptosis;HP:0000405|Conductive hearing impairment;HP:0008773|Aplasia/Hypoplasia of the middle ear
trichodermodysplasia-dental alterations syndrome	HP:0009720|Adenoma sebaceum;HP:0011069|Increased number of teeth;HP:0003307|Hyperlordosis;HP:0002209|Sparse scalp hair;HP:0002650|Scoliosis;HP:0002213|Fine hair;HP:0003272|Abnormality of the hip bone;HP:0006482|Abnormality of dental morphology;HP:0008499|High-grade hypermetropia;HP:0000684|Delayed eruption of teeth;HP:0100840|Aplasia/Hypoplasia of the eyebrow;HP:0002299|Brittle hair;HP:0007565|Multiple cafe-au-lait spots;HP:0005338|Sparse lateral eyebrow;HP:0200102|Sparse or absent eyelashes;HP:0000008|Abnormality of female internal genitalia;HP:0008069|Neoplasm of the skin;HP:0000982|Palmoplantar keratoderma;HP:0009804|Reduced number of teeth
cleft lip/palate-deafness-sacral lipoma syndrome	HP:0002744|Bilateral cleft lip and palate;HP:0012033|Sacral lipoma;HP:0000324|Facial asymmetry;HP:0001251|Ataxia;HP:0000457|Depressed nasal ridge;HP:0002209|Sparse scalp hair;HP:0002827|Hip dislocation;HP:0005273|Absent nasal septal cartilage;HP:0100559|Lower limb asymmetry;HP:0002435|Meningocele;HP:0008625|Severe sensorineural hearing impairment;HP:0100335|Non-midline cleft lip;HP:0009804|Reduced number of teeth
muscular hypertrophy-hepatomegaly-polyhydramnios syndrome	HP:0000202|Oral cleft;HP:0002438|Cerebellar malformation;HP:0007700|Anterior segment dysgenesis;HP:0000078|Abnormality of the genital system;HP:0000568|Microphthalmia;HP:0000589|Coloboma;HP:0004488|Macrocephaly at birth;HP:0002119|Ventriculomegaly;HP:0003741|Congenital muscular dystrophy;HP:0007260|Type II lissencephaly;HP:0000519|Congenital cataract;HP:0000238|Hydrocephalus;HP:0002085|Occipital encephalocele;HP:0007973|Retinal dysplasia
limb transversal defect-cardiac anomaly syndrome	HP:0004050|Absent hand;HP:0001626|Abnormality of the cardiovascular system;HP:0001171|Split hand;HP:0006101|Finger syndactyly;HP:0002093|Respiratory insufficiency;HP:0008368|Tarsal synostosis;HP:0004322|Short stature;HP:0002991|Abnormality of the fibula;HP:0001622|Premature birth;HP:0002992|Abnormality of the tibia
craniosynostosis-dandy-walker malformation-hydrocephalus syndrome	HP:0000347|Micrognathia;HP:0002007|Frontal bossing;HP:0000268|Dolichocephaly;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0001321|Cerebellar hypoplasia;HP:0000648|Optic atrophy;HP:0000238|Hydrocephalus;HP:0005472|Orbital craniosynostosis;HP:0001305|Dandy-Walker malformation;HP:0001249|Intellectual disability
skeletal dysplasia-intellectual disability syndrome	HP:0005978|Type II diabetes mellitus;HP:0008467|Thoracic hemivertebrae;HP:0005107|Abnormality of the sacrum;HP:0002023|Anal atresia;HP:0004322|Short stature;HP:0002650|Scoliosis;HP:0002949|Fused cervical vertebrae;HP:0005819|Short middle phalanx of finger;HP:0001156|Brachydactyly syndrome
brachytelephalangy-dysmorphism-kallmann syndrome	HP:0000044|Hypogonadotrophic hypogonadism;HP:0010624|Aplastic/hypoplastic toenail;HP:0010669|Cheekbone underdevelopment;HP:0000506|Telecanthus;HP:0000219|Thin upper lip vermilion;HP:0005288|Abnormality of the nares;HP:0001387|Joint stiffness;HP:0001053|Hypopigmented skin patches;HP:0001163|Abnormality of the metacarpal bones;HP:0000458|Anosmia;HP:0003196|Short nose;HP:0000316|Hypertelorism;HP:0009882|Short distal phalanx of finger;HP:0000664|Synophrys;HP:0002857|Genu valgum;HP:0000337|Broad forehead;HP:0000048|Bifid scrotum;HP:0008736|Hypoplasia of penis;HP:0001156|Brachydactyly syndrome
xy type gonadal dysgenesis-associated anomalies syndrome	HP:0004322|Short stature;HP:0001629|Ventricular septal defect;HP:0010720|Abnormal hair pattern;HP:0000288|Abnormality of the philtrum;HP:0001176|Large hands;HP:0001156|Brachydactyly syndrome;HP:0008678|Renal hypoplasia/aplasia;HP:0007598|Bilateral single transverse palmar creases;HP:0001537|Umbilical hernia;HP:0000069|Abnormality of the ureter;HP:0004467|Preauricular pit;HP:0000147|Polycystic ovaries;HP:0100335|Non-midline cleft lip;HP:0002000|Short columella;HP:0000494|Downslanted palpebral fissures;HP:0000413|Atresia of the external auditory canal;HP:0001256|Intellectual disability, mild;HP:0000286|Epicanthus;HP:0000175|Cleft palate;HP:0011342|Mild global developmental delay;HP:0000133|Gonadal dysgenesis;HP:0002750|Delayed skeletal maturation;HP:0011304|Broad thumb;HP:0004422|Biparietal narrowing;HP:0000368|Low-set, posteriorly rotated ears;HP:0008551|Microtia
osteopathia striata-pigmentary dermopathy-white forelock syndrome	HP:0002211|White forelock;HP:0007412|Macular hyperpigmented dermopathy;HP:0010740|Osteopathia striata;HP:0002644|Abnormality of pelvic girdle bone morphology;HP:0100670|Rough bone trabeculation;HP:0000944|Abnormality of the metaphyses;HP:0000940|Abnormal diaphysis morphology
fibulo-ulnar hypoplasia-renal anomalies syndrome	HP:0000028|Cryptorchidism;HP:0006492|Aplasia/Hypoplasia of the fibula;HP:0001629|Ventricular septal defect;HP:0005280|Depressed nasal bridge;HP:0008736|Hypoplasia of penis;HP:0000347|Micrognathia;HP:0006101|Finger syndactyly;HP:0002007|Frontal bossing;HP:0002564|Malformation of the heart and great vessels;HP:0000316|Hypertelorism;HP:0000049|Shawl scrotum;HP:0000494|Downslanted palpebral fissures;HP:0003022|Hypoplasia of the ulna;HP:0010242|Aplasia of the proximal phalanges of the hand;HP:0001622|Premature birth;HP:0000089|Renal hypoplasia;HP:0000431|Wide nasal bridge;HP:0001195|Single umbilical artery;HP:0000411|Protruding ear;HP:0100016|Abnormality of the mesentery;HP:0003026|Short long bone;HP:0001561|Polyhydramnios
lethal hemolytic anemia-genital anomalies syndrome	HP:0000047|Hypospadias;HP:0000160|Narrow mouth;HP:0001744|Splenomegaly;HP:0008678|Renal hypoplasia/aplasia;HP:0000347|Micrognathia;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0000457|Depressed nasal ridge;HP:0002093|Respiratory insufficiency;HP:0001928|Abnormality of coagulation;HP:0000252|Microcephaly;HP:0001852|Sandal gap;HP:0001562|Oligohydramnios;HP:0000069|Abnormality of the ureter;HP:0000929|Abnormality of the skull;HP:0000233|Thin vermilion border;HP:0001252|Muscular hypotonia;HP:0001541|Ascites;HP:0001903|Anemia;HP:0008736|Hypoplasia of penis;HP:0001561|Polyhydramnios
extrasystoles-short stature-hyperpigmentation-microcephaly syndrome	HP:0007598|Bilateral single transverse palmar creases;HP:0000347|Micrognathia;HP:0007400|Irregular hyperpigmentation;HP:0006689|Bacterial endocarditis;HP:0004322|Short stature;HP:0002750|Delayed skeletal maturation;HP:0000252|Microcephaly;HP:0000486|Strabismus;HP:0000316|Hypertelorism;HP:0009804|Reduced number of teeth;HP:0007477|Abnormal dermatoglyphics;HP:0006682|Ventricular extrasystoles;HP:0012722|Heart block
cryptorchidism-arachnodactyly-intellectual disability syndrome	HP:0000047|Hypospadias;HP:0007598|Bilateral single transverse palmar creases;HP:0006703|Aplasia/Hypoplasia of the lungs;HP:0002205|Recurrent respiratory infections;HP:0001387|Joint stiffness;HP:0000268|Dolichocephaly;HP:0000486|Strabismus;HP:0001608|Abnormality of the voice;HP:0002650|Scoliosis;HP:0001166|Arachnodactyly;HP:0002750|Delayed skeletal maturation;HP:0001249|Intellectual disability;HP:0000164|Abnormality of the teeth;HP:0002808|Kyphosis;HP:0001252|Muscular hypotonia;HP:0000768|Pectus carinatum;HP:0000035|Abnormality of the testis
microcephaly-cervical spine fusion anomalies syndrome	HP:0010620|Malar prominence;HP:0000470|Short neck;HP:0000520|Proptosis;HP:0004322|Short stature;HP:0002176|Spinal cord compression;HP:0000767|Pectus excavatum;HP:0000508|Ptosis;HP:0000047|Hypospadias;HP:0000347|Micrognathia;HP:0000369|Low-set ears;HP:0003307|Hyperlordosis;HP:0006482|Abnormality of dental morphology;HP:0002167|Neurological speech impairment;HP:0002949|Fused cervical vertebrae;HP:0000069|Abnormality of the ureter;HP:0000772|Abnormality of the ribs;HP:0001256|Intellectual disability, mild;HP:0000889|Abnormality of the clavicle;HP:0000252|Microcephaly;HP:0003272|Abnormality of the hip bone;HP:0002808|Kyphosis;HP:0004312|Abnormality of reticulocytes;HP:0001347|Hyperreflexia;HP:0000444|Convex nasal ridge;HP:0012371|Midface prominence;HP:0000340|Sloping forehead
severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome	HP:0000568|Microphthalmia;HP:0010751|Chin dimple;HP:0100543|Cognitive impairment;HP:0000248|Brachycephaly;HP:0000592|Blue sclerae;HP:0007477|Abnormal dermatoglyphics;HP:0000337|Broad forehead;HP:0007598|Bilateral single transverse palmar creases;HP:0000303|Mandibular prognathia;HP:0000506|Telecanthus;HP:0002007|Frontal bossing;HP:0002558|Supernumerary nipple;HP:0000486|Strabismus;HP:0009748|Large earlobe;HP:0000316|Hypertelorism;HP:0000668|Hypodontia;HP:0001276|Hypertonia;HP:0000384|Preauricular skin tag;HP:0002006|Facial cleft;HP:0000612|Iris coloboma;HP:0001250|Seizures;HP:0000324|Facial asymmetry;HP:0002650|Scoliosis;HP:0000252|Microcephaly;HP:0100022|Abnormality of movement;HP:0001182|Tapered finger;HP:0100267|Lip pit;HP:0100720|Hypoplasia of the ear cartilage;HP:0011304|Broad thumb;HP:0000765|Abnormality of the thorax;HP:0100490|Camptodactyly of finger;HP:0000174|Abnormality of the palate
osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome	HP:0001256|Intellectual disability, mild;HP:0006297|Hypoplasia of dental enamel;HP:0000582|Upslanted palpebral fissure;HP:0000545|Myopia;HP:0000938|Osteopenia;HP:0000316|Hypertelorism;HP:0002757|Recurrent fractures;HP:0000248|Brachycephaly;HP:0001999|Abnormal facial shape;HP:0008572|External ear malformation;HP:0000407|Sensorineural hearing impairment;HP:0200021|Down-sloping shoulders
moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome	HP:0000044|Hypogonadotrophic hypogonadism;HP:0002540|Inability to walk;HP:0007108|Demyelinating peripheral neuropathy;HP:0008000|Decreased corneal reflex;HP:0000298|Mask-like facies;HP:0002342|Intellectual disability, moderate;HP:0003477|Peripheral axonal neuropathy;HP:0000544|External ophthalmoplegia;HP:0000486|Strabismus;HP:0000182|Movement abnormality of the tongue;HP:0045037|Abnormality of jaw muscles;HP:0007209|Facial paralysis;HP:0001252|Muscular hypotonia;HP:0001776|Bilateral talipes equinovarus;HP:0001167|Abnormality of finger
paraplegia-intellectual disability-hyperkeratosis syndrome	HP:0000639|Nystagmus;HP:0010620|Malar prominence;HP:0001257|Spasticity;HP:0000347|Micrognathia;HP:0001348|Brisk reflexes;HP:0001258|Spastic paraplegia;HP:0000348|High forehead;HP:0001347|Hyperreflexia;HP:0002209|Sparse scalp hair;HP:0005692|Joint hyperflexibility;HP:0001166|Arachnodactyly;HP:0000483|Astigmatism;HP:0000982|Palmoplantar keratoderma;HP:0001156|Brachydactyly syndrome;HP:0001249|Intellectual disability;HP:0003189|Long nose;HP:0010579|Cone-shaped epiphysis;HP:0001231|Abnormality of the fingernails;HP:0000508|Ptosis;HP:0002061|Lower limb spasticity;HP:0000340|Sloping forehead
neuropathy, hereditary sensory and autonomic, type ii	HP:0001842|Foot acroosteolysis;HP:0001252|Hypotonia;HP:0001069|Sporadic excessive sweating;HP:0001939|Laboratory abnormality;HP:0008872|Feeding difficulties in infancy;HP:0003448|Decreased sensory nerve conduction velocities;HP:0009771|Acro-osteolysis;HP:0001265|Decreased tendon reflexes;HP:0001818|Paronychia;HP:0001284|Areflexia;HP:0002020|Heartburn;HP:0000478|Abnormal eye;HP:0009830|Peripheral neuritis;HP:0003380|Decreased number of peripheral myelinated nerve fibers;HP:0002661|Painless fractures due to injury;HP:0000970|Lack of sweating;HP:0000224|Decreased taste;HP:0000762|Decreased NCV;HP:0006121|Acral ulceration leading to autoamputation of digits
osteoporosis-oculocutaneous hypopigmentation syndrome	HP:0000639|Nystagmus;HP:0001022|Albinism;HP:0000505|Visual impairment;HP:0000479|Abnormality of the retina;HP:0004322|Short stature;HP:0005599|Hypopigmentation of hair;HP:0000545|Myopia;HP:0000939|Osteoporosis;HP:0001010|Hypopigmentation of the skin;HP:0002808|Kyphosis;HP:0000926|Platyspondyly;HP:0000980|Pallor
corneal fleck dystrophy	HP:0000613|Extreme light sensitivity;HP:0007962|Speckled corneal dystrophy
progeria-short stature-pigmented nevi syndrome	HP:0025124|Fragile teeth;HP:0000585|Band keratopathy;HP:0040160|Generalized osteoporosis;HP:0010536|Central sleep apnea;HP:0000815|Hypergonadotropic hypogonadism;HP:0005364|Severe viral infections;HP:0000518|Cataract;HP:0100543|Cognitive impairment;HP:0004322|Short stature;HP:0001935|Microcytic anemia;HP:0003808|Abnormal muscle tone;HP:0007495|Prematurely aged appearance;HP:0005403|Decrease in T cell count;HP:0001156|Brachydactyly syndrome;HP:0000047|Hypospadias;HP:0003401|Paresthesia;HP:0002572|Episodic vomiting;HP:0000347|Micrognathia;HP:0001270|Motor delay;HP:0000193|Bifid uvula;HP:0005115|Supraventricular arrhythmia;HP:0007481|Hyperpigmented nevi;HP:0000668|Hypodontia;HP:0005328|Progeroid facial appearance;HP:0002828|Multiple joint contractures;HP:0002020|Gastroesophageal reflux;HP:0005320|Lack of facial subcutaneous fat;HP:0001256|Intellectual disability, mild;HP:0002664|Neoplasm;HP:0008209|Premature ovarian failure;HP:0001518|Small for gestational age;HP:0008230|Decreased testosterone in males;HP:0000252|Microcephaly;HP:0000938|Osteopenia;HP:0002943|Thoracic scoliosis;HP:0010663|Abnormality of thalamus morphology;HP:0000689|Dental malocclusion;HP:0000823|Delayed puberty;HP:0000408|Progressive sensorineural hearing impairment;HP:0000529|Progressive visual loss;HP:0001397|Hepatic steatosis;HP:0002360|Sleep disturbance;HP:0002162|Low posterior hairline;HP:0002910|Elevated hepatic transaminases;HP:0001592|Selective tooth agenesis;HP:0001596|Alopecia;HP:0002721|Immunodeficiency;HP:0002894|Neoplasm of the pancreas;HP:0001620|High pitched voice;HP:0100785|Insomnia;HP:0008214|Decreased serum estradiol;HP:0000054|Micropenis;HP:0000831|Insulin-resistant diabetes mellitus;HP:0000320|Bird-like facies;HP:0002136|Broad-based gait;HP:0009882|Short distal phalanx of finger
hypogonadotropic hypogonadism-retinitis pigmentosa syndrome	HP:0000044|Hypogonadotrophic hypogonadism;HP:0008724|Hypoplasia of the ovary;HP:0000786|Primary amenorrhea;HP:0008202|Prolactin deficiency;HP:0003164|Hypothalamic gonadotropin-releasing hormone (GNRH) deficiency;HP:0001513|Obesity;HP:0003187|Breast hypoplasia;HP:0002750|Delayed skeletal maturation;HP:0004322|Short stature;HP:0002757|Recurrent fractures;HP:0000580|Pigmentary retinopathy;HP:0000510|Rod-cone dystrophy;HP:0000830|Anterior hypopituitarism;HP:0000939|Osteoporosis;HP:0008187|Absence of secondary sex characteristics;HP:0000164|Abnormality of the teeth;HP:0000823|Delayed puberty;HP:0004349|Reduced bone mineral density;HP:0000144|Decreased fertility;HP:0008240|Secondary growth hormone deficiency
auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome	HP:0000639|Nystagmus;HP:0001357|Plagiocephaly;HP:0100277|Periauricular skin pits;HP:0000545|Myopia;HP:0011340|Incomplete cleft of the upper lip;HP:0000587|Abnormality of the optic nerve;HP:0000572|Visual loss;HP:0000767|Pectus excavatum;HP:0000347|Micrognathia;HP:0000369|Low-set ears;HP:0007894|Hypopigmentation of the fundus;HP:0000457|Depressed nasal ridge;HP:0000252|Microcephaly;HP:0000891|Cervical ribs;HP:0002808|Kyphosis;HP:0000431|Wide nasal bridge;HP:0000202|Oral cleft;HP:0010880|Increased nuchal translucency;HP:0002566|Intestinal malrotation;HP:0000377|Abnormality of the pinna;HP:0002002|Deep philtrum;HP:0000430|Underdeveloped nasal alae
hypergonadotropic hypogonadism-cataract syndrome	HP:0000786|Primary amenorrhea;HP:0000815|Hypergonadotropic hypogonadism;HP:0000518|Cataract;HP:0002750|Delayed skeletal maturation;HP:0004322|Short stature;HP:0002757|Recurrent fractures;HP:0000837|Increased circulating gonadotropin level;HP:0000939|Osteoporosis;HP:0008187|Absence of secondary sex characteristics;HP:0000823|Delayed puberty;HP:0004349|Reduced bone mineral density;HP:0000144|Decreased fertility;HP:0008240|Secondary growth hormone deficiency
pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome	HP:0030830|Rales;HP:0003281|Increased serum ferritin;HP:0011954|Nodular regenerative hyperplasia of liver;HP:0002910|Elevated hepatic transaminases;HP:0001433|Hepatosplenomegaly;HP:0005528|Bone marrow hypocellularity;HP:0001873|Thrombocytopenia;HP:0001409|Portal hypertension;HP:0002094|Dyspnea;HP:0002206|Pulmonary fibrosis;HP:0001685|Myocardial fibrosis;HP:0030829|Abnormal breath sound;HP:0002111|Restrictive deficit on pulmonary function testing;HP:0006707|Abnormality of the hepatic vasculature;HP:0012735|Cough;HP:0002103|Abnormality of the pleura
46,xx disorder of sex development-skeletal anomalies syndrome	HP:0000137|Abnormality of the ovary;HP:0000786|Primary amenorrhea;HP:0000347|Micrognathia;HP:0000142|Abnormality of the vagina;HP:0000130|Abnormality of the uterus;HP:0007628|Mandibular condyle hypoplasia;HP:0000061|Ambiguous genitalia, female;HP:0003083|Dislocated radial head;HP:0003871|Deformed humerus;HP:0040253|Increased size of the clitoris;HP:0000063|Fused labia minora;HP:0010650|Hypoplasia of the premaxilla