eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| williams syndrome | ||||
| Disease ID | 31 |
|---|---|
| Disease | williams syndrome |
| Definition | A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy. |
| Synonym | aortic stenoses, hypercalcemia-supravalvar aortic stenosis, hypercalcemia-supravalvar beuren syndrome beuren syndrome williams chromosome 7q11.23 deletion syndrome chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb contiguous gene syndrome, williams elfin facies syndrome fanconi schlesinger syndrome hypercalcemia supravalvar aortic stenosis hypercalcemia, infantile idiopathic hypercalcemia-supravalvar aortic stenoses hypercalcemia-supravalvar aortic stenosis stenoses, hypercalcemia-supravalvar aortic stenosis, hypercalcemia-supravalvar aortic supravalvar aortic stenosis syndrome syndrome william beuren syndrome williams syndrome, beuren syndrome, williams syndrome, williams-beuren william syndrome williams barratt syndrome williams beuren syndrome williams contiguous gene syndrome williams syndrome (disorder) williams syndrome [disease/finding] williams' syndrome williams-beuren syndrome williams-beuren syndrome (wbs) wms |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0175702 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:42) C0003507 | aortic stenosis | 7 C0003499 | supravalvular aortic stenosis | 5 C0003507 | valvular aortic stenosis | 5 C0020437 | hypercalcemia | 3 C0004352 | autism | 2 C0025362 | mental retardation | 2 C0022578 | keratoconus | 2 C0020538 | hypertension | 2 C0042373 | vascular disease | 2 C0026265 | mitral valve disease | 2 C0852949 | arteriopathy | 2 C0264765 | mitral valve diseases | 2 C0037769 | infantile spasms | 1 C0156273 | bladder diverticula | 1 C0006413 | burkitt lymphoma | 1 C0026654 | moyamoya disease | 1 C0018203 | chronic granulomatous disease | 1 C0026654 | moyamoya | 1 C0037317 | sleep disturbance | 1 C0026769 | multiple sclerosis | 1 C0007570 | celiac disease | 1 C0004114 | astrocytoma | 1 C0020676 | hypothyroidism | 1 C0026267 | mitral valve prolapse | 1 C0003467 | anxiety | 1 C0037317 | sleep disturbances | 1 C0679466 | cognitive deficits | 1 C0010308 | congenital hypothyroidism | 1 C0730290 | cone dystrophy | 1 C0013990 | emphysema | 1 C0028754 | obesity | 1 C0008925 | cleft palate | 1 C0036439 | scoliosis | 1 C0033975 | psychosis | 1 C0014848 | achalasia | 1 C0021053 | immune disease | 1 C0024299 | lymphoma | 1 C0016667 | fragile x syndrome | 1 C0008924 | cleft lip | 1 C0004352 | autistic disorder | 1 C0012813 | diverticulitis | 1 C0007222 | cardiovascular disease | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:17) 2969 | GTF2I | CTD_human;ORPHANET;UNIPROT 7462 | LAT2 | UNIPROT 3984 | LIMK1 | ORPHANET;UNIPROT;UniProtKB-KW 84277 | DNAJC30 | UNIPROT 1742 | DLG4 | CTD_human 9569 | GTF2IRD1 | CTD_human;ORPHANET;UNIPROT 2006 | ELN | CTD_human;ORPHANET;UNIPROT 7458 | EIF4H | UNIPROT 9275 | BCL7B | UniProtKB-KW;UNIPROT 8468 | FKBP6 | UNIPROT 7461 | CLIP2 | ORPHANET;UNIPROT 51085 | MLXIPL | UNIPROT 26608 | TBL2 | ORPHANET;UNIPROT 5982 | RFC2 | ORPHANET;UNIPROT 155368 | WBSCR27 | UNIPROT 114049 | WBSCR22 | UNIPROT 9031 | BAZ1B | CTD_human;ORPHANET;UNIPROT;UniProtKB-KW |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:83) 34 | ACADM | 1.805 | DISEASES 79087 | ALG12 | 3.771 | DISEASES 23237 | ARC | 1.975 | DISEASES 26053 | AUTS2 | 3.059 | DISEASES 11177 | BAZ1A | 3.016 | DISEASES 9031 | BAZ1B | 6.016 | DISEASES 605 | BCL7A | 2.641 | DISEASES 29035 | C16orf72 | 3.75 | DISEASES 83698 | CALN1 | 3.243 | DISEASES 1012 | CDH13 | 1.026 | DISEASES 1111 | CHEK1 | 1.321 | DISEASES 1139 | CHRNA7 | 1.427 | DISEASES 9635 | CLCA2 | 1.717 | DISEASES 22802 | CLCA4 | 1.815 | DISEASES 1365 | CLDN3 | 2.699 | DISEASES 1364 | CLDN4 | 1.996 | DISEASES 26047 | CNTNAP2 | 1.123 | DISEASES 78987 | CRELD1 | 1.142 | DISEASES 1750 | DLX6 | 2.349 | DISEASES 1755 | DMBT1 | 1.471 | DISEASES 84277 | DNAJC30 | 5.042 | DISEASES 1907 | EDN2 | 1.231 | DISEASES 79813 | EHMT1 | 1.864 | DISEASES 23136 | EPB41L3 | 1.632 | DISEASES 2138 | EYA1 | 1.792 | DISEASES 2140 | EYA3 | 3.271 | DISEASES 2160 | F11 | 1.167 | DISEASES 2200 | FBN1 | 2.535 | DISEASES 2332 | FMR1 | 1.057 | DISEASES 2304 | FOXE1 | 2.107 | DISEASES 8928 | FOXH1 | 2.051 | DISEASES 448831 | FRG2 | 2.871 | DISEASES 24140 | FTSJ1 | 2.797 | DISEASES 8326 | FZD9 | 3.853 | DISEASES 50614 | GALNT9 | 3.321 | DISEASES 2969 | GTF2I | 7.51 | DISEASES 9569 | GTF2IRD1 | 7.267 | DISEASES 84163 | GTF2IRD2 | 6.272 | DISEASES 3014 | H2AFX | 2.766 | DISEASES 23462 | HEY1 | 1.303 | DISEASES 3347 | HTN3 | 1.372 | DISEASES 3704 | ITPA | 1.211 | DISEASES 23028 | KDM1A | 1.036 | DISEASES 9355 | LHX2 | 2.229 | DISEASES 3984 | LIMK1 | 4.599 | DISEASES 9863 | MAGI2 | 2.23 | DISEASES 79648 | MCPH1 | 2.657 | DISEASES 51085 | MLXIPL | 3.506 | DISEASES 10608 | MXD4 | 2.508 | DISEASES 4763 | NF1 | 1.56 | DISEASES 60491 | NIF3L1 | 3.898 | DISEASES 4839 | NOP2 | 2.72 | DISEASES 10718 | NRG3 | 2.138 | DISEASES 9378 | NRXN1 | 2.445 | DISEASES 64324 | NSD1 | 2.845 | DISEASES 5048 | PAFAH1B1 | 1.299 | DISEASES 9124 | PDLIM1 | 4.924 | DISEASES 55670 | PEX26 | 3.824 | DISEASES 9063 | PIAS2 | 2.336 | DISEASES 353497 | POLN | 2.033 | DISEASES 5455 | POU3F3 | 1.887 | DISEASES 9939 | RBM8A | 1.019 | DISEASES 1102 | RCBTB2 | 2.662 | DISEASES 1104 | RCC1 | 1.788 | DISEASES 5980 | REV3L | 2.116 | DISEASES 6005 | RHAG | 1.256 | DISEASES 6477 | SIAH1 | 1.763 | DISEASES 4090 | SMAD5 | 1.63 | DISEASES 6594 | SMARCA1 | 3.649 | DISEASES 23347 | SMCHD1 | 2.384 | DISEASES 7062 | TCHH | 1.317 | DISEASES 7020 | TFAP2A | 1.287 | DISEASES 135892 | TRIM50 | 5.042 | DISEASES 7222 | TRPC3 | 2.582 | DISEASES 55503 | TRPV6 | 1.467 | DISEASES 7329 | UBE2I | 1.43 | DISEASES 7874 | USP7 | 1.608 | DISEASES 157680 | VPS13B | 1.42 | DISEASES 155382 | VPS37D | 4.251 | DISEASES 64409 | WBSCR17 | 5.216 | DISEASES 114049 | WBSCR22 | 4.768 | DISEASES 9205 | ZMYM5 | 3.152 | DISEASES 347344 | ZNF81 | 2.942 | DISEASES |
| Locus | Symbol | Locus(Total Locus:8) |
| Disease ID | 31 |
|---|---|
| Disease | williams syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:194) 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 |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:41) HP:0001650 | Valvular aortic stenosis | 7 HP:0004381 | Supravalvular aortic stenosis | 5 HP:0002597 | Abnormality of blood vessels | 4 HP:0100543 | Cognitive deficits | 3 HP:0003072 | Hypercalcemia | 3 HP:0001695 | Cardiac arrest | 2 HP:0000563 | Conical cornea | 2 HP:0000822 | Hypertension | 2 HP:0002463 | Language impairment | 2 HP:0000717 | Autism | 2 HP:0001249 | Mental retardation | 2 HP:0000851 | Congenital hypothyroidism | 1 HP:0001730 | Progressive hearing impairment | 1 HP:0002608 | Celiac disease | 1 HP:0001634 | Mitral valve prolapse | 1 HP:0002360 | Sleep disturbance | 1 HP:0007700 | Anterior segment dysgenesis | 1 HP:0000175 | Palatoschisis | 1 HP:0000015 | Bladder diverticula | 1 HP:0002097 | Pulmonary emphysema | 1 HP:0000739 | Anxiety | 1 HP:0012619 | Multiple pouches in bladder wall | 1 HP:0100033 | Tic disorder | 1 HP:0012469 | Infantile spasms | 1 HP:0002665 | Lymphoma | 1 HP:0002960 | Autoimmune condition | 1 HP:0000510 | Retinitis pigmentosa | 1 HP:0012433 | Abnormal social behaviour | 1 HP:0002650 | Scoliosis | 1 HP:0001627 | Congenital heart defects | 1 HP:0000821 | Underactive thyroid | 1 HP:0002013 | Emesis | 1 HP:0004415 | Pulmonary artery stenosis | 1 HP:0009592 | Astrocytoma | 1 HP:0030080 | Burkitt lymphoma | 1 HP:0001680 | Coarctation of aorta | 1 HP:0000089 | Small kidneys | 1 HP:0030680 | Abnormality of cardiovascular system morphology | 1 HP:0001513 | Obesity | 1 HP:0000709 | Psychosis | 1 HP:0002571 | Achalasia | 1 |
| Disease ID | 31 |
|---|---|
| Disease | williams syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:53) C2364118 | weakness C2189399 | hyperacusis C2020541 | strabismus C1963064 | anxiety C1956257 | pulmonary stenosis C1883524 | valvular stenosis C1848140 | social cognition C1565489 | renal insufficiency C1555754 | cardiovascular disease C1546602 | diverticulum C1414382 | supravalvular aortic stenosis C1402315 | vascular lesions C1368355 | synostosis C0852949 | arteriopathy C0751378 | neurologic signs C0741949 | cardiovascular pathology C0679466 | cognitive deficits C0600033 | kyphoscoliosis C0575081 | gait abnormalities C0525041 | cognitive symptoms C0475732 | infantile hypercalcemia C0427008 | stiffness C0346172 | mucinous cystadenoma of ovary C0345030 | peripheral pulmonary artery stenosis C0334590 | anaplastic oligodendroglioma C0279628 | oesophageal adenocarcinoma C0235031 | neurological symptoms C0234131 | motor dysfunction C0158761 | radioulnar synostosis C0042928 | vocal cord paralysis C0040188 | tic disorder C0038454 | stroke C0037769 | infantile spasms C0037763 | spasm C0034013 | precocious puberty C0034013 | early puberty C0027051 | myocardial infarction C0026654 | moyamoya disease C0026266 | mitral regurgitation C0026266 | mitral insufficiency C0025362 | mental retardation C0024305 | non-hodgkin's lymphoma C0020676 | hypothyroidism C0020541 | portal hypertension C0020538 | systemic hypertension C0020437 | hypercalcemia C0014877 | esotropia C0010308 | congenital hypothyroidism C0007570 | coeliac disease C0004936 | mental disorders C0004352 | autism C0004114 | astrocytoma C0003507 | aortic stenosis |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:17) C0003499 | supravalvular aortic stenosis | 4 C0003507 | aortic stenosis | 4 C0020437 | hypercalcemia | 2 C0871381 | social cognition | 2 C0026654 | moyamoya disease | 1 C0025362 | mental retardation | 1 C0037769 | infantile spasms | 1 C0007222 | cardiovascular disease | 1 C0679466 | cognitive deficits | 1 C0004352 | autism | 1 C0020676 | hypothyroidism | 1 C0012817 | diverticulum | 1 C0003467 | anxiety | 1 C0427008 | stiffness | 1 C0010308 | congenital hypothyroidism | 1 C0004093 | weakness | 1 C0004114 | astrocytoma | 1 |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| 7q11.23 | - | 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) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:75) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000431 | Wide nasal bridge | MP:0006292 | abnormal nasal placode morphology | any structural anomaly in the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epith |
| HP:0000670 | Carious teeth | MP:0004033 | supernumerary teeth | occurrence of more than the usual number of teeth |
| HP:0001643 | Patent ductus arteriosus | MP:0011662 | persistent truncus arteriosus type ii | complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type II is characterized by separate but proximate origins of the left and right pulmonary arterial branches fro |
| HP:0000179 | Thick lower lip vermilion | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0004305 | Involuntary movements | MP:0000436 | abnormal head movements | any anomaly in the motion of the portion of the body containing the brain and organs of sight, hearing, taste, and smell |
| HP:0003119 | Abnormality of lipid metabolism | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| 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:0002035 | Rectal prolapse | MP:0000493 | rectal prolapse | downward movement and external appearance of the rectum through the anus |
| HP:0005978 | Type II diabetes mellitus | MP:0004803 | increased susceptibility to autoimmune diabetes | greater likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas |
| HP:0003422 | Vertebral segmentation defect | MP:0010412 | atrioventricular septal defect | defects in the thin membranous structure between the right atrium and left ventricle that arise from faulty development of the embryonic endocardial cushions; the spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partia |
| HP:0004306 | Abnormality of the endocardium | MP:0009889 | persistence of medial edge epithelium during palatal shelf fusion | palatal shelves meet at the midline during development but do not adhere along the medial edge epithelia, and fail to form the midline epithelial seam |
| HP:0000689 | Dental malocclusion | MP:0000120 | malocclusion | perturbations in the normal patterned arrangement of the teeth or alignment of the jaw, resulting in the incorrect position of biting or chewing surfaces of the upper and lower teeth |
| HP:0002205 | Recurrent respiratory infections | MP:0014182 | decreased respiratory epithelial sodium ion transmembrane transport | decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other |
| HP:0001387 | Joint stiffness | MP:0003098 | decreased tendon stiffness | reduced ability of tendon to maintain tensile strength and load |
| HP:0000464 | Abnormality of the neck | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0001626 | Abnormality of the cardiovascular system | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0000023 | Inguinal 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:0001636 | Tetralogy of Fallot | 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: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:0003236 | Elevated serum creatine phosphokinase | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| HP:0004969 | Peripheral pulmonary artery stenosis | MP:0012537 | abnormal hyaloid artery morphology | any structural anomaly of the artery which arises from the dorsal ophthalmic artery and enters the eye cup through the optic (choroid) fissure; the hyaloid artery is contained within the optic stalk of the eye, extends from the optic disc through the vitr |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | MP:0013620 | increased internal diameter of femur | increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0001639 | Hypertrophic cardiomyopathy | MP:0005330 | cardiomyopathy | diseases of the heart (myocardium); may result from many causes |
| 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:0001642 | Pulmonic stenosis | MP:0010449 | heart right ventricle outflow tract stenosis | abnormal constriction or narrowing of part of the anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminating in the pulmonary trunk |
| HP:0006482 | Abnormality of dental morphology | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0003312 | Abnormal form of the vertebral bodies | 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:0001537 | Umbilical 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:0002575 | Tracheoesophageal fistula | MP:0003321 | tracheoesophageal fistula | an abnormal passage is present between the esophagus and the trachea; may be acquired or congenital, and is often associated with esophageal atresia |
| HP:0001582 | Redundant skin | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0100659 | Abnormality of the cerebral vasculature | MP:0004499 | increased incidence of tumors by chemical induction | higher than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens |
| HP:0002071 | Abnormality of extrapyramidal motor function | MP:0009403 | increased variability of skeletal muscle fiber size | greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls |
| HP:0005562 | Multiple renal cysts | MP:0000522 | kidney cortex cysts | abnormal membranous sacs appearing in the outer portion of the kidney located between the renal capsule and the renal medulla and involved in ultrafiltration, containing the renal corpuscles, the renal tubules (except for parts of the loop of Henle which |
| 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:0100539 | Periorbital edema | MP:0001785 | edema | an accumulation of an excessive amount of watery fluid in cells or intercellular tissues |
| HP:0008053 | Aplasia/Hypoplasia of the iris | 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:0001671 | Abnormality of the cardiac septa | MP:0012167 | abnormal epigenetic regulation of gene expression | any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA |
| HP:0002637 | Cerebral ischemia | MP:0006190 | retinal ischemia | inadequate blood flow to the retina usually due to functional constriction or obstruction of a blood vessel |
| 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:0001531 | Failure to thrive in infancy | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0007720 | Flat cornea | MP:0005543 | decreased cornea thickness | decreased thickness of the cornea, the transparent anterior portion of the fibrous coat of the eye that serves as the chief refractory structure |
| HP:0001231 | Abnormality of the fingernails | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0003298 | Spina bifida occulta | MP:0005297 | spina bifida occulta | defective closure of the laminae of the vertebral column in the lumbosacral region without hernial protrusion of the spinal cord or meninges; the mildest, most common and often asymptomatic form of spina bifida, identified externally by a skin depression |
| HP:0001634 | Mitral valve prolapse | MP:0010617 | thick mitral valve cusps | an increase in the ratio of the mitral valve cusp wall thickness to the atrioventricular septum thickness |
| 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:0000280 | Coarse facial features | MP:0008018 | increased facial tumor incidence | greater than the expected number of neoplasms on the face, usually in the form of a distinct mass, in a specific population in a given time period |
| HP:0004295 | Abnormality of the gastric mucosa | MP:0004500 | increased incidence of tumors by ionizing radiation induction | higher than normal frequency of tumor incidence induced by radiation in which the individual particle or photon carries sufficient energy to completely remove an electron from its orbit; common types of this radiation include gamma-rays and X-rays |
| 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:0004381 | Supravalvular aortic stenosis | MP:0010641 | descending aorta stenosis | diffuse constriction or narrowing of the descending aorta |
| HP:0000010 | Recurrent urinary tract infections | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
| HP:0000089 | Renal hypoplasia | MP:0012085 | midface hypoplasia | underdevelopment of the midfacial region comprising the nasal, maxillary, and zygomatic bones, leading to a concave-looking face |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| HP:0011001 | Increased bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
| HP:0000682 | Abnormality of dental enamel | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0002750 | Delayed skeletal maturation | MP:0003379 | absent sexual maturation | failure to initiate pubertal changes that result in achievement of full sexual capacity |
| HP:0001635 | Congestive heart failure | MP:0011925 | abnormal heart echocardiography feature | any anomaly in echocardiographic representation of systolic and diastolic function, ventricular compliance, valvular function, or interventricular septum features |
| HP:0000411 | Protruding ear | MP:0005105 | abnormal middle ear ossicle morphology | any structural anomaly of the three small bones of the middle ear |
| HP:0001650 | Aortic valve stenosis | MP:0010618 | enlarged mitral valve | an increase in the total area occupied by the mitral valve |
| HP:0003028 | Abnormality of the ankles | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0001608 | Abnormality of the voice | 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:0100240 | Synostosis of joints | MP:0004686 | decreased length of long bones | reduced end-to-end length of the several elongated bones of the extremities |
| HP:0000389 | Chronic otitis media | MP:0001850 | increased susceptibility to otitis media | greater likelihood of middle ear inflammation, with an accumulation of a thick, mucous-like fluid; usually associated with a viral or bacterial respiratory infection |
| 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:0100545 | Arterial stenosis | MP:0010641 | descending aorta stenosis | diffuse constriction or narrowing of the descending aorta |
| HP:0000232 | Everted lower lip vermilion | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| 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:0000076 | Vesicoureteral reflux | MP:0001948 | vesicoureteral reflux | the retrograde flow of urine from the bladder into the ureters and kidneys |
| HP:0010669 | Hypoplasia of the zygomatic bone | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| 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:0000125 | Pelvic kidney | MP:0002135 | abnormal kidney morphology | any structural anomaly of either of the two excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine |
| HP:0007957 | Corneal opacity | MP:0009859 | eye opacity | changes in the eye grossly observed as a milky or cloudy appearance that may be progressive and persistent throughout life |
| HP:0001645 | Sudden cardiac death | MP:0012557 | decreased calcium uptake by cardiac muscle | decreased directed movement of calcium ions into cardiac muscle; decreased or disrupted uptake may give rise to energetic deficit and oxidative stress. leading to cardiac disease |
| 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 |
| HP:0001647 | Bicuspid aortic valve | MP:0010620 | thick mitral valve | an increase in the ratio of the mitral valve wall thickness to the atrioventricular septum thickness |
Mapped by homologous gene(Total Items:184) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000739 | Anxiety | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001609 | Hoarse voice | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000044 | Hypogonadotrophic hypogonadism | 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:0004306 | Abnormality of the endocardium | MP:0011143 | thick lung-associated mesenchyme | increased thickness of the mesenchymal cell layer due to delay or failure of the mesenchymal compartment to thin down during the late stages of embryonic lung development |
| HP:0003307 | Hyperlordosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0100545 | Arterial stenosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| 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:0100025 | Overfriendliness | MP:0011098 | embryonic lethality during organogenesis, complete penetrance | death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0007018 | Attention deficit hyperactivity disorder | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0008053 | Aplasia/Hypoplasia of the iris | 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:0000485 | Megalocornea | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001310 | Dysmetria | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| 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:0000075 | Renal duplication | MP:0013956 | decreased colon length | reduced length of the portion of the large intestine between the cecum and the rectum |
| HP:0000821 | Hypothyroidism | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0002857 | Genu valgum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001643 | Patent ductus arteriosus | 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:0001297 | Stroke | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001636 | Tetralogy of Fallot | MP:0014117 | increased pancreatic beta cell apoptosis | increase in the number of pancreatic beta cells undergoing programmed cell death |
| HP:0001513 | Obesity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001582 | Redundant skin | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001969 | Tubulointerstitial abnormality | MP:0011110 | preweaning lethality, 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 fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0003119 | Abnormality of lipid metabolism | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100817 | Renovascular hypertension | MP:0012676 | dilated brain ventricles | the luminal space of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord is increased in volume or area, usually with an increase in contained fluid |
| 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:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0002020 | Gastroesophageal reflux | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0002575 | Tracheoesophageal fistula | 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:0000280 | Coarse facial features | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000343 | Long philtrum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001635 | Congestive heart failure | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000272 | Malar flattening | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0007495 | Prematurely aged appearance | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| 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:0001181 | Adducted thumb | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0000389 | Chronic otitis media | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0000400 | Macrotia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000010 | Recurrent urinary tract infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0005692 | Joint hyperflexibility | MP:0012125 | decreased bronchoconstrictive response | reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003028 | Abnormality of the ankles | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002808 | Kyphosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000632 | Lacrimation abnormality | MP:0013721 | abnormal mammary placode morphology | any structural anomaly of the transient lens-shaped thickening of surface ectoderm that will give rise to the mammary bud proper; in mouse, five pairs of symmetrically positioned mammary placodes (three thoracic and two inguinal) form at reproducible loca |
| HP:0000411 | Protruding ear | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0002141 | Gait imbalance | MP:0013279 | increased fasted circulating glucose level | increase in the amount of glucose in the blood at some defined time point after eating compared to controls |
| HP:0001634 | Mitral valve prolapse | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001647 | Bicuspid aortic valve | 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: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:0002205 | Recurrent respiratory infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001347 | Hyperreflexia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0002308 | Arnold-Chiari malformation | 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:0005562 | Multiple renal cysts | MP:0011108 | embryonic lethality during organogenesis, 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 embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0001136 | Retinal arteriolar tortuosity | MP:0011697 | vacuolated lens | fluid filled cavities are present in the cytoplasm of the transparent structure of the eye responsible for focusing light |
| HP:0001231 | Abnormality of the fingernails | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000093 | Proteinuria | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0001618 | Dysphonia | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0100659 | Abnormality of the cerebral vasculature | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0004428 | Elfin facies | MP:0012676 | dilated brain ventricles | the luminal space of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord is increased in volume or area, usually with an increase in contained fluid |
| HP:0002027 | Abdominal pain | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0100613 | Death in early adulthood | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0011001 | Increased bone mineral density | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005113 | Dilatation of the aortic arch | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0001642 | Pulmonic stenosis | MP:0020040 | decreased bone ossification | decrease 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:0000232 | Everted lower lip vermilion | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000125 | Pelvic kidney | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0000286 | Epicanthus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002623 | Overriding aorta | 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: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:0002035 | Rectal prolapse | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0000368 | Low-set, posteriorly rotated ears | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000015 | Bladder diverticulum | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000545 | Myopia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000147 | Polycystic ovaries | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001653 | Mitral regurgitation | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001387 | Joint stiffness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000023 | Inguinal hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial 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:0001763 | Pes planus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0010669 | Hypoplasia of the zygomatic bone | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002150 | Hypercalciuria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100539 | Periorbital edema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000307 | Pointed chin | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0002999 | Patellar dislocation | MP:0013743 | ciliary body hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris |
| HP:0001640 | Cardiomegaly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0001052 | Nevus flammeus | MP:0013956 | decreased colon length | reduced length of the portion of the large intestine between the cecum and the rectum |
| HP:0003422 | Vertebral segmentation defect | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000275 | Narrow face | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001631 | Atria septal defect | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004398 | Peptic ulcer | MP:0013602 | abnormal Leydig cell differentiation | atypical formation of or inability to produce the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone; in most mammals, normal Leydig cell (LC) development |
| HP:0001081 | Cholelithiasis | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002253 | Colonic diverticula | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0007477 | Abnormal dermatoglyphics | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| 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:0001257 | Spasticity | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0100240 | Synostosis of joints | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0004295 | Abnormality of the gastric mucosa | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0003072 | Hypercalcemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0004305 | Involuntary movements | MP:0013572 | abnormal parathyroid gland chief cell morphology | any structural anomaly of an epithelial cell that are collectively arranged in wide, irregular interconnecting columns in the parathyroid gland, that is responsible for the synthesis and secretion of parathyroid hormone (PTH) |
| HP:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000627 | Posterior embryotoxon | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000938 | Osteopenia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000121 | Nephrocalcinosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002637 | Cerebral ischemia | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000736 | Short attention span | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000670 | Carious teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001639 | Hypertrophic cardiomyopathy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001650 | Aortic valve stenosis | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001388 | Joint laxity | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002183 | Phonophobia | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0003198 | Myopathy | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| HP:0001822 | Hallux valgus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0007720 | Flat cornea | MP:0011108 | embryonic lethality during organogenesis, 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 embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0000826 | Precocious puberty | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001361 | Nystagmus-induced head nodding | MP:0005201 | abnormal retinal pigment epithelium morphology | any structural anomaly in the epithelial layer of the retina composed of cells containing pigment granules |
| 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:0008661 | Urethral stenosis | MP:0013501 | increased fibroblast apoptosis | increase in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0001608 | Abnormality of the voice | 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:0002376 | Developmental regression | 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:0100785 | Insomnia | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0002071 | Abnormality of extrapyramidal motor function | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001671 | Abnormality of the cardiac septa | MP:0013901 | absent female preputial gland | absence of the paired, lobulated, modified sebaceous glands located on the side of the clitoris in female rodents; in contrast to the preputial glands in male rodents, clitoral glands are a minor source of olfactory stimuli contributing to sexual attracti |
| HP:0000691 | Microdontia | 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:0003298 | Spina bifida occulta | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000179 | Thick lower lip vermilion | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0000089 | Renal hypoplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002019 | Constipation | 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:0000505 | Visual 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:0000464 | Abnormality of the neck | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000431 | Wide nasal bridge | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006482 | Abnormality of dental morphology | MP:0014176 | abnormal cilary zonule morphology | any structural anomaly of the circumferential suspensory ligaments that anchor the lens to the ciliary process and are made of bundles of fibrillin microfibrils, an elaborate system of fibers that spans the gap between the lens and the adjacent nonpigment |
| HP:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| 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:0000154 | Wide 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:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000025 | Functional abnormality of male internal genitalia | MP:0012106 | impaired exercise endurance | impaired performance during controlled physical activity |
| 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:0000689 | Dental malocclusion | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004381 | Supravalvular aortic stenosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001288 | Gait disturbance | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000212 | Gingival overgrowth | 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: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:0000682 | Abnormality of dental enamel | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0002024 | Malabsorption | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000581 | Blepharophimosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001337 | Tremor | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0007957 | Corneal opacity | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000076 | Vesicoureteral reflux | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0000337 | Broad forehead | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000158 | Macroglossia | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001260 | Dysarthria | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001626 | Abnormality of the cardiovascular system | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005978 | Type II diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0003236 | Elevated serum creatine phosphokinase | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001800 | Hypoplastic toenails | 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:0000348 | High forehead | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0010780 | Hyperacusis | 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:0200021 | Down-sloping shoulders | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001531 | Failure to thrive in infancy | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| 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:0000787 | Nephrolithiasis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0004969 | Peripheral pulmonary artery stenosis | MP:0020040 | decreased bone ossification | decrease 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:0010807 | Open bite | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0005344 | Abnormality of the carotid arteries | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0001645 | Sudden cardiac death | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000960 | Sacral dimple | MP:0013787 | photophobia | abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the e |
| HP:0008499 | High-grade hypermetropia | 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:0003312 | Abnormal form of the vertebral bodies | 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:0001658 | Myocardial infarction | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001537 | Umbilical hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000635 | Blue irides | 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:0000668 | Hypodontia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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 | 31 |
|---|---|
| Disease | williams syndrome |
| Case | (Waiting for update.) |