eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cornelia de lange syndrome | ||||
| Disease ID | 547 |
|---|---|
| Disease | cornelia de lange syndrome |
| Definition | A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231) |
| Synonym | amstelodamensis, typus degenerativus amsterdam dwarf bdls brachmann de lange syndrome brachmann-de lange syndrome bruck-de lange syndrome cdl cdls cdls1 cornelia de lange syndrome 1 cornelia de lange's syndrome cornelia de langes syndrome de lange syndrome de lange syndrome (disorder) de lange syndrome [disease/finding] de lange's syndrome de langes syndrome degenerative amstelodamensis typus degenerative amsterodamensis typus lange syndrome cornelia de syndrome cornelia de lange syndrome, brachmann-de lange syndrome, de lange syndrome, de lange's typus degenerativus amstelodamensis |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0270972 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:13) C0003466 | imperforate anus | 2 C0018799 | heart disease | 1 C0002766 | analgesia | 1 C0040034 | thrombocytopenia | 1 C0034150 | purpura | 1 C0014544 | epilepsy | 1 C0025362 | mental retardation | 1 C0152021 | congenital heart disease | 1 C0037317 | sleep disturbance | 1 C0030354 | papilloma | 1 C0019284 | diaphragmatic hernia | 1 C0004352 | autism | 1 C0009324 | ulcerative colitis | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:38) 727857 | BHLHA9 | 3.147 | DISEASES 833 | CARS | 1.905 | DISEASES 55636 | CHD7 | 1.061 | DISEASES 1663 | DDX11 | 2.373 | DISEASES 8667 | EIF3H | 2.455 | DISEASES 1981 | EIF4G1 | 1.395 | DISEASES 2131 | EXT1 | 2.596 | DISEASES 338811 | FAM19A2 | 3.81 | DISEASES 124975 | GGT6 | 3.547 | DISEASES 55869 | HDAC8 | 6.304 | DISEASES 3400 | ID4 | 2.331 | DISEASES 3786 | KCNQ3 | 1.395 | DISEASES 7044 | LEFTY2 | 1.993 | DISEASES 4038 | LRP4 | 1.843 | DISEASES 23383 | MAU2 | 4.35 | DISEASES 10514 | MYBBP1A | 2.806 | DISEASES 254827 | NAALADL2 | 4.035 | DISEASES 22871 | NLGN1 | 2.056 | DISEASES 64324 | NSD1 | 1.371 | DISEASES 8481 | OFD1 | 1.944 | DISEASES 5069 | PAPPA | 3.381 | DISEASES 57526 | PCDH19 | 1.795 | DISEASES 6194 | RPS6 | 1.02 | DISEASES 51750 | RTEL1 | 1.298 | DISEASES 55209 | SETD5 | 2.833 | DISEASES 6473 | SHOX | 1.145 | DISEASES 6474 | SHOX2 | 1.968 | DISEASES 8243 | SMC1A | 7.721 | DISEASES 9126 | SMC3 | 7.493 | DISEASES 23137 | SMC5 | 2.839 | DISEASES 342527 | SMTNL2 | 3.852 | DISEASES 6622 | SNCA | 3.468 | DISEASES 124976 | SPNS2 | 2.693 | DISEASES 10274 | STAG1 | 3.373 | DISEASES 6878 | TAF6 | 3.685 | DISEASES 79718 | TBL1XR1 | 1.756 | DISEASES 7227 | TRPS1 | 3.476 | DISEASES 157680 | VPS13B | 3.318 | DISEASES |
| Locus | Symbol | Locus(Total Locus:5) |
| Disease ID | 547 |
|---|---|
| Disease | cornelia de lange syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:100) 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 |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:19) HP:0001171 | Hand ectrodactyly | 1 HP:0000588 | Optic disk coloboma | 1 HP:0012740 | Papilloma | 1 HP:0001087 | Childhood glaucoma | 1 HP:0000175 | Palatoschisis | 1 HP:0001873 | Low platelet count | 1 HP:0001249 | Mental retardation | 1 HP:0000501 | Glaucoma | 1 HP:0001999 | Facial dysmorphism | 1 HP:0000717 | Autism | 1 HP:0100279 | Ulcerative colitis | 1 HP:0002020 | Heartburn | 1 HP:0002043 | Esophageal stricture | 1 HP:0000979 | Purpura | 1 HP:0002360 | Sleep disturbance | 1 HP:0000776 | Diaphragmatic hernia | 1 HP:0001601 | Laryngomalacia | 1 HP:0100790 | Hernia | 1 HP:0001263 | Developmental retardation | 1 |
| Disease ID | 547 |
|---|---|
| Disease | cornelia de lange syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| NIPBL | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:43) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
| HP:0000687 | Widely spaced teeth | MP:0004033 | supernumerary teeth | occurrence of more than the usual number of teeth |
| HP:0002021 | Pyloric stenosis | MP:0006128 | pulmonary valve stenosis | abnormal narrowing of the pulmonary valve |
| HP:0001557 | Prenatal movement abnormality | MP:0001404 | no spontaneous movement | failure of neonates or embryos to initiate any voluntary or spontaneous change in position or posture, with or without external stimulus |
| HP:0000776 | Congenital diaphragmatic hernia | MP:0010146 | umbilical hernia | an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close |
| HP:0003196 | Short nose | MP:0002233 | abnormal nose morphology | any structural anomaly of the organ that is specialized for smell and is part of the respiratory system |
| HP:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0008850 | Severe postnatal growth retardation | MP:0011085 | postnatal lethality, complete penetrance | premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age) |
| HP:0005280 | Depressed nasal bridge | MP:0013582 | abnormal lateral nasal gland morphology | any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those d |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | MP:0012129 | failure of blastocyst formation | inability to form a blastocyst from a solid ball of cells known as a morula |
| HP:0000453 | Choanal atresia | MP:0009510 | cecal atresia | congenital blockage or absence of the lumen of the cecum |
| HP:0001956 | Truncal obesity | MP:0005659 | decreased susceptibility to diet-induced obesity | less likely to become excessively overweight or to increase fat in the subcutaneous connective tissue as a result of consuming a diet geared to increase body fat |
| HP:0001770 | Toe syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP:0001387 | Joint stiffness | MP:0003098 | decreased tendon stiffness | reduced ability of tendon to maintain tensile strength and load |
| HP:0000218 | High palate | MP:0011615 | submucous cleft palate | a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate |
| HP:0002997 | Abnormality of the ulna | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0004209 | Clinodactyly of the 5th finger | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0000405 | Conductive hearing impairment | MP:0006325 | impaired hearing | reduced ability to perceive auditory stimuli |
| HP:0000294 | Low anterior hairline | MP:0004784 | abnormal anterior cardinal vein morphology | any structural anomaly of the two paired veins draining the cephalic part of the body |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0000003 | Multicystic kidney dysplasia | MP:0011376 | abnormal kidney corticomedullary boundary morphology | any structural anomaly of the region demarcating the renal medulla from the surrounding cortex; end-stage renal failure may be associated with loss of the normal corticomedullary boundary |
| HP:0000722 | Obsessive-compulsive behavior | MP:0009456 | impaired cued conditioning behavior | decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash) |
| HP:0002714 | Downturned corners of mouth | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| HP:0009623 | Proximal placement of thumb | MP:0009886 | failure of palatal shelf elevation | the palatal shelves fail to move from a vertical position in the orofacial cavity to a horizontal apposition above the developing tongue |
| HP:0001631 | Atria septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0007018 | Attention deficit hyperactivity disorder | MP:0001399 | hyperactivity | general restlessness or excessive movement; more frequent movement from one place to another or having an increased state of activity |
| HP:0000684 | Delayed eruption of teeth | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0002750 | Delayed skeletal maturation | MP:0003379 | absent sexual maturation | failure to initiate pubertal changes that result in achievement of full sexual capacity |
| HP:0010034 | Short 1st metacarpal | MP:0004634 | short metacarpal bones | reduced length of the five bones of the forepaws that articulate proximally with the carpal bones and distally with the phalanges |
| HP:0000413 | Atresia of the external auditory canal | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0001511 | Intrauterine growth retardation | MP:0011109 | lethality throughout fetal growth and development, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5) |
| HP:0001773 | Short foot | MP:0008138 | absent podocyte foot process | absence of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries |
| HP:0000470 | Short neck | MP:0012720 | elongated neck | increased length of the neck |
| HP:0000076 | Vesicoureteral reflux | MP:0001948 | vesicoureteral reflux | the retrograde flow of urine from the bladder into the ureters and kidneys |
| HP:0002120 | Cerebral cortical atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0000083 | Renal insufficiency | MP:0003335 | exocrine pancreatic insufficiency | inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients |
| HP:0001629 | Ventricular septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0001622 | Premature birth | MP:0009703 | decreased birth body size | reduction in average body size at birth compared to controls |
| HP:0000130 | Abnormality of the uterus | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0002974 | Radioulnar synostosis | MP:0000566 | synostosis | osseous union of two bones that are not normally connected |
| HP:0008736 | Hypoplasia of penis | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
Mapped by homologous gene(Total Items:98) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001883 | Talipes | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000739 | Anxiety | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0200055 | Small hand | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0002162 | Low posterior hairline | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002021 | Pyloric stenosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002566 | Intestinal malrotation | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0000453 | Choanal atresia | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0002557 | Hypoplastic nipples | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0002360 | Sleep disturbance | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000347 | Micrognathia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0007018 | Attention deficit hyperactivity disorder | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000047 | Hypospadias | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000482 | Microcornea | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002714 | Downturned corners of mouth | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001508 | Failure to thrive | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000518 | Cataract | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002997 | Abnormality of the ulna | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0000664 | Synophrys | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000574 | Thick eyebrow | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000059 | Hypoplastic labia majora | MP:0014152 | absent exorbital lacrimal gland | absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland |
| HP:0001622 | Premature birth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001557 | Prenatal movement abnormality | MP:0014124 | increased amylin secretion | greater than normal production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiet |
| HP:0000786 | Primary amenorrhea | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000823 | Delayed puberty | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0001956 | Truncal obesity | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0000722 | Obsessive-compulsive behavior | MP:0013405 | increased circulating lactate level | greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase |
| HP:0000218 | High palate | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000294 | Low anterior hairline | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002020 | Gastroesophageal reflux | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0000684 | Delayed eruption of teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000343 | Long philtrum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0008736 | Hypoplasia of penis | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0009623 | Proximal placement of thumb | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0000400 | Macrotia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001773 | Short foot | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0007665 | Curly eyelashes | MP:0011966 | abnormal auditory brainstem response waveform shape | any anomaly in the characteristic pattern of electrical activity recording of a series of vertex positive waves generated by neurons in the ascending auditory system, that can be recorded from scalp electrograms by using computer-averaged responses to sho |
| HP:0000486 | Strabismus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0003196 | Short nose | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000501 | Glaucoma | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000003 | Multicystic kidney dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000413 | Atresia of the external auditory canal | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002553 | Highly arched eyebrow | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0010300 | Abnormally low-pitched voice | MP:0012114 | absent inner cell mass proliferation | |
| HP:0002827 | Hip dislocation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000248 | Brachycephaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005280 | Depressed nasal bridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000405 | Conductive hearing impairment | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000470 | Short neck | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002983 | Micromelia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000233 | Thin vermilion border | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002167 | Neurological speech impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000368 | Low-set, posteriorly rotated ears | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000545 | Myopia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001387 | Joint stiffness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000130 | Abnormality of the uterus | MP:0013508 | increased granulosa cell apoptosis | increase in the timing or the number of granulsa cells undergoing programmed cell death |
| HP:0002750 | Delayed skeletal maturation | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000965 | Cutis marmorata | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0007598 | Bilateral single transverse palmar creases | MP:0012279 | wide sternum | an increase in the width of the long flat bone of the chest that articulates with the clavicle and first seven rib pairs |
| HP:0002974 | Radioulnar synostosis | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0012165 | Oligodactyly | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0001631 | Atria septal defect | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000687 | Widely spaced teeth | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000407 | Sensorineural hearing impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001770 | Toe syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000667 | Phthisis bulbi | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001511 | Intrauterine growth retardation | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000028 | Cryptorchidism | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0003042 | Elbow dislocation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0010864 | Intellectual disability, severe | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000639 | Nystagmus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0004209 | Clinodactyly of the 5th finger | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000527 | Long eyelashes | MP:0013956 | decreased colon length | reduced length of the portion of the large intestine between the cecum and the rectum |
| HP:0000498 | Blepharitis | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001385 | Hip dysplasia | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0002120 | Cerebral cortical atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002119 | Ventriculomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000463 | Anteverted nares | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000717 | Autism | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001629 | Ventricular septal defect | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000776 | Congenital diaphragmatic hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0008850 | Severe postnatal growth retardation | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0000076 | Vesicoureteral reflux | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0010880 | Increased nuchal translucency | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002230 | Generalized hirsutism | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000767 | Pectus excavatum | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001276 | Hypertonia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000175 | Cleft palate | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000083 | Renal insufficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0008872 | Feeding difficulties in infancy | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0010034 | Short 1st metacarpal | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0000252 | Microcephaly | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| Disease ID | 547 |
|---|---|
| Disease | cornelia de lange syndrome |
| Case | (Waiting for update.) |