eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| 22q11.2 deletion syndrome | ||||
| Disease ID | 47 |
|---|---|
| Disease | 22q11.2 deletion syndrome |
| Definition | congenital syndrome with the absence of the thymus and parathyroids causing impairment of cellular immunity; immunoglobulin levels are normal. |
| Synonym | agenesis of the parathyroid and thymus glands autosomal dominant opitz g bbb syndrome autosomal dominant opitz g-bbb syndrome branchial arch syndrome catch22 chromosome 22q11.2 deletion syndrome dgs di george syndrome di george's syndrome di georges syndrome digeorge anomaly digeorge sequence digeorge sequence (disorder) digeorge syndrome digeorge syndrome (disorder) digeorge syndrome [disease/finding] digeorge syndromes digeorge's syndrome digeorges syndrome familial third and fourth pharyngeal pouch syndrome hypoplasia of thymus and parathyroids pharyngeal pouch syndrome sphrintzen syndrome di george syndrome, digeorge third and fourth pharyngeal arch syndrome third and fourth pharyngeal pouch syndrome thymic aplasia syndrome thymic hypoplasia thymic hypoplasia syndrome thymic-parathyroid aplasia vcf velo-cardio-facial syndrome velocardiofacial syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0012236 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:29) C0036341 | schizophrenia | 9 C0033975 | psychosis | 8 C0152021 | congenital heart disease | 6 C0018799 | heart disease | 6 C0679466 | cognitive deficits | 3 C0042164 | uveitis | 1 C0037315 | sleep apnea syndrome | 1 C0032285 | pneumonia | 1 C0002871 | anemia | 1 C0030567 | parkinson's disease | 1 C0020626 | hypoparathyroidism | 1 C0026848 | myopathy | 1 C0520679 | obstructive sleep apnea syndrome | 1 C0024312 | lymphopenia | 1 C0022578 | keratoconus | 1 C0040128 | thyroid disease | 1 C0011570 | depression | 1 C0042769 | virus infection | 1 C0035920 | rubella | 1 C0030517 | parathyroid dysfunction | 1 C0003469 | anxiety disorder | 1 C0002880 | autoimmune hemolytic anemia | 1 C0270549 | generalized anxiety disorder | 1 C0033975 | psychoses | 1 C0002878 | hemolytic anemia | 1 C0013338 | growth hormone deficiency | 1 C0021053 | immune disease | 1 C1744558 | t-cell deficiency | 1 C0020302 | congenital glaucoma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:9) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:177) 4363 | ABCC1 | 1.674 | DISEASES 4363 | ABCC1 | 1.541 | DISEASES 34 | ACADM | 1.669 | DISEASES 150209 | AIFM3 | 3.565 | DISEASES 229 | ALDOB | 1.128 | DISEASES 265 | AMELX | 1.995 | DISEASES 9639 | ARHGEF10 | 1.867 | DISEASES 10620 | ARID3B | 2.605 | DISEASES 9070 | ASH2L | 2.163 | DISEASES 438 | ASMT | 2.034 | DISEASES 57194 | ATP10A | 2.277 | DISEASES 488 | ATP2A2 | 1.805 | DISEASES 9031 | BAZ1B | 2.275 | DISEASES 9564 | BCAR1 | 1.113 | DISEASES 1233 | CCR4 | 1.495 | DISEASES 916 | CD3E | 2.658 | DISEASES 916 | CD3E | 1.833 | DISEASES 959 | CD40LG | 2.093 | DISEASES 8318 | CDC45 | 4.062 | DISEASES 8318 | CDC45 | 3.383 | DISEASES 100130418 | CECR7 | 3.431 | DISEASES 100130418 | CECR7 | 3.299 | DISEASES 10659 | CELF2 | 2.128 | DISEASES 10659 | CELF2 | 2.084 | DISEASES 55636 | CHD7 | 3.146 | DISEASES 1139 | CHRNA7 | 1.512 | DISEASES 10370 | CITED2 | 1.653 | DISEASES 7122 | CLDN5 | 2.446 | DISEASES 9074 | CLDN6 | 2.065 | DISEASES 8218 | CLTCL1 | 4.496 | DISEASES 8218 | CLTCL1 | 3.361 | DISEASES 26047 | CNTNAP2 | 1.03 | DISEASES 1312 | COMT | 5.587 | DISEASES 1312 | COMT | 2.054 | DISEASES 594855 | CPLX3 | 2.964 | DISEASES 1399 | CRKL | 3.801 | DISEASES 1399 | CRKL | 3.685 | DISEASES 1496 | CTNNA2 | 2.256 | DISEASES 1499 | CTNNB1 | 1.118 | DISEASES 1500 | CTNND1 | 1.163 | DISEASES 1500 | CTNND1 | 1.031 | DISEASES 8454 | CUL1 | 1.236 | DISEASES 8214 | DGCR6 | 5.581 | DISEASES 8214 | DGCR6 | 4.448 | DISEASES 23405 | DICER1 | 1.957 | DISEASES 1810 | DR1 | 2.526 | DISEASES 1810 | DR1 | 2.393 | DISEASES 1813 | DRD2 | 1.309 | DISEASES 29102 | DROSHA | 3.619 | DISEASES 84062 | DTNBP1 | 1.261 | DISEASES 1855 | DVL1 | 1.428 | DISEASES 1855 | DVL1 | 1.296 | DISEASES 1889 | ECE1 | 1.31 | DISEASES 1889 | ECE1 | 1.089 | DISEASES 1908 | EDN3 | 1.74 | DISEASES 1910 | EDNRB | 1.123 | DISEASES 2138 | EYA1 | 2.745 | DISEASES 2138 | EYA1 | 2.613 | DISEASES 653203 | FAM230A | 4.034 | DISEASES 2187 | FANCB | 1.801 | DISEASES 2248 | FGF3 | 1.357 | DISEASES 2253 | FGF8 | 3.832 | DISEASES 2253 | FGF8 | 3.556 | DISEASES 2303 | FOXC2 | 1.118 | DISEASES 2290 | FOXG1 | 2.126 | DISEASES 2290 | FOXG1 | 1.994 | DISEASES 2535 | FZD2 | 1.824 | DISEASES 8322 | FZD4 | 1.244 | DISEASES 2625 | GATA3 | 1.94 | DISEASES 2625 | GATA3 | 1.653 | DISEASES 9247 | GCM2 | 1.735 | DISEASES 728441 | GGT2 | 1.029 | DISEASES 2687 | GGT5 | 2.53 | DISEASES 10052 | GJC1 | 1.724 | DISEASES 54584 | GNB1L | 4.715 | DISEASES 54584 | GNB1L | 3.833 | DISEASES 2800 | GOLGA1 | 3.274 | DISEASES 2801 | GOLGA2 | 2.018 | DISEASES 2811 | GP1BA | 2.316 | DISEASES 2812 | GP1BB | 2.727 | DISEASES 2971 | GTF3A | 3.626 | DISEASES 51696 | HECA | 1.735 | DISEASES 23493 | HEY2 | 1.402 | DISEASES 23119 | HIC2 | 3.338 | DISEASES 3211 | HOXB1 | 2.105 | DISEASES 3347 | HTN3 | 1.236 | DISEASES 3459 | IFNGR1 | 1.352 | DISEASES 100423062 | IGLL5 | 2.171 | DISEASES 100423062 | IGLL5 | 1.346 | DISEASES 3321 | IGSF3 | 2.238 | DISEASES 3321 | IGSF3 | 2.106 | DISEASES 8517 | IKBKG | 1.62 | DISEASES 3594 | IL12RB1 | 1.237 | DISEASES 3561 | IL2RG | 2.305 | DISEASES 79191 | IRX3 | 1.866 | DISEASES 11275 | KLHL2 | 1.936 | DISEASES 54551 | MAGEL2 | 1.815 | DISEASES 55777 | MBD5 | 1.702 | DISEASES 4205 | MEF2A | 1.101 | DISEASES 4208 | MEF2C | 1.196 | DISEASES 4208 | MEF2C | 1.064 | DISEASES 64223 | MLST8 | 1.71 | DISEASES 64223 | MLST8 | 1.667 | DISEASES 4359 | MPZ | 1.008 | DISEASES 64976 | MRPL40 | 4.21 | DISEASES 64976 | MRPL40 | 3.988 | DISEASES 23077 | MYCBP2 | 1.483 | DISEASES 404635 | NANOGP1 | 3.376 | DISEASES 4692 | NDN | 1.251 | DISEASES 10529 | NEBL | 2.515 | DISEASES 27247 | NFU1 | 2.4 | DISEASES 27247 | NFU1 | 2.357 | DISEASES 1482 | NKX2-5 | 1.785 | DISEASES 1482 | NKX2-5 | 1.698 | DISEASES 9378 | NRXN1 | 2.396 | DISEASES 8021 | NUP214 | 1.354 | DISEASES 340990 | OTOG | 2.924 | DISEASES 5048 | PAFAH1B1 | 1.295 | DISEASES 5048 | PAFAH1B1 | 1.163 | DISEASES 5077 | PAX3 | 1.649 | DISEASES 5083 | PAX9 | 1.737 | DISEASES 9260 | PDLIM7 | 1.148 | DISEASES 5297 | PI4KA | 3.74 | DISEASES 5456 | POU3F4 | 2.547 | DISEASES 5456 | POU3F4 | 2.415 | DISEASES 100169750 | PRINS | 3.172 | DISEASES 100169750 | PRINS | 2.994 | DISEASES 5625 | PRODH | 5.694 | DISEASES 5625 | PRODH | 4.324 | DISEASES 5831 | PYCR1 | 1.546 | DISEASES 5902 | RANBP1 | 3.368 | DISEASES 5902 | RANBP1 | 3.236 | DISEASES 5649 | RELN | 1.319 | DISEASES 5999 | RGS4 | 1.541 | DISEASES 6023 | RMRP | 1.629 | DISEASES 85358 | SHANK3 | 1.478 | DISEASES 25942 | SIN3A | 2.002 | DISEASES 7884 | SLBP | 3.018 | DISEASES 7884 | SLBP | 2.754 | DISEASES 144195 | SLC2A14 | 1.008 | DISEASES 54716 | SLC6A20 | 2.523 | DISEASES 6541 | SLC7A1 | 1.357 | DISEASES 6545 | SLC7A4 | 2.527 | DISEASES 4184 | SMCP | 3.606 | DISEASES 63826 | SRR | 1.28 | DISEASES 6427 | SRSF2 | 1.944 | DISEASES 6736 | SRY | 1.115 | DISEASES 6780 | STAU1 | 2.484 | DISEASES 64220 | STRA6 | 1.958 | DISEASES 64426 | SUDS3 | 2.451 | DISEASES 6899 | TBX1 | 6.255 | DISEASES 6899 | TBX1 | 6.133 | DISEASES 347853 | TBX10 | 3.486 | DISEASES 9095 | TBX19 | 2.027 | DISEASES 50945 | TBX22 | 3.213 | DISEASES 50945 | TBX22 | 2.8 | DISEASES 84260 | TCHP | 1.233 | DISEASES 84260 | TCHP | 1.1 | DISEASES 10618 | TGOLN2 | 2.407 | DISEASES 7072 | TIA1 | 1.503 | DISEASES 8940 | TOP3B | 2.852 | DISEASES 64222 | TOR3A | 2.651 | DISEASES 7204 | TRIO | 2.356 | DISEASES 7102 | TSPAN7 | 1.95 | DISEASES 83942 | TSSK1B | 3.847 | DISEASES 83942 | TSSK1B | 2.198 | DISEASES 10587 | TXNRD2 | 2.793 | DISEASES 9094 | UNC119 | 1.686 | DISEASES 7441 | VPREB1 | 1.328 | DISEASES 157680 | VPS13B | 1.417 | DISEASES 7481 | WNT11 | 1.569 | DISEASES 8565 | YARS | 2.415 | DISEASES 8565 | YARS | 2.282 | DISEASES 29801 | ZDHHC8 | 4.68 | DISEASES 100131827 | ZNF717 | 3.179 | DISEASES 7625 | ZNF74 | 5.421 | DISEASES 7625 | ZNF74 | 5.227 | DISEASES |
| Locus | Symbol | Locus(Total Locus:9) |
| Disease ID | 47 |
|---|---|
| Disease | 22q11.2 deletion syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:131) HP:0000028 | Cryptorchidism HP:0002023 | Anal atresia HP:0001601 | Laryngomalacia HP:0004322 | Short stature HP:0000365 | Hearing impairment HP:0002960 | Autoimmunity HP:0005435 | Impaired T cell function HP:0000347 | Micrognathia HP:0000130 | Abnormality of the uterus HP:0000506 | Telecanthus HP:0002564 | Malformation of the heart and great vessels HP:0000276 | Long face HP:0000343 | Long philtrum HP:0001636 | Tetralogy of Fallot HP:0100735 | Hypertensive crisis HP:0000396 | Overfolded helix HP:0008872 | Feeding difficulties in infancy HP:0000175 | Cleft palate HP:0001660 | Truncus arteriosus HP:0001281 | Tetany HP:0001646 | Abnormality of the aortic valve HP:0002607 | Bowel incontinence HP:0000252 | Microcephaly HP:0001508 | Failure to thrive HP:0000431 | Wide nasal bridge HP:0001744 | Splenomegaly HP:0000426 | Prominent nasal bridge HP:0001369 | Arthritis HP:0001136 | Retinal arteriolar tortuosity HP:0000113 | Polycystic kidney dysplasia HP:0000716 | Depression HP:0002566 | Intestinal malrotation HP:0001252 | Muscular hypotonia HP:0000821 | Hypothyroidism HP:0000836 | Hyperthyroidism HP:0000670 | Carious teeth HP:0002239 | Gastrointestinal hemorrhage HP:0005562 | Multiple renal cysts HP:0006525 | Lung segmentation defects HP:0001051 | Seborrheic dermatitis HP:0001166 | Arachnodactyly HP:0000929 | Abnormality of the skull HP:0002999 | Patellar dislocation HP:0000508 | Ptosis HP:0001631 | Atrial septal defect HP:0000047 | Hypospadias HP:0000582 | Upslanted palpebral fissure HP:0001873 | Thrombocytopenia HP:0001762 | Talipes equinovarus HP:0000164 | Abnormality of the teeth HP:0002435 | Meningocele HP:0001256 | Intellectual disability, mild HP:0000708 | Behavioral abnormality HP:0000286 | Epicanthus HP:0001081 | Cholelithiasis HP:0000089 | Renal hypoplasia HP:0000272 | Malar flattening HP:0000648 | Optic atrophy HP:0000023 | Inguinal hernia HP:0000405 | Conductive hearing impairment HP:0001249 | Intellectual disability HP:0000322 | Short philtrum HP:0000829 | Hypoparathyroidism HP:0002721 | Immunodeficiency HP:0001872 | Abnormality of thrombocytes HP:0002357 | Dysphasia HP:0100765 | Abnormality of the tonsils HP:0000414 | Bulbous nose HP:0000238 | Hydrocephalus HP:0001561 | Polyhydramnios HP:0001263 | Global developmental delay HP:0000160 | Narrow mouth HP:0000262 | Turricephaly HP:0001061 | Acne HP:0000492 | Abnormality of the eyelid HP:0000682 | Abnormality of dental enamel HP:0001629 | Ventricular septal defect HP:0000453 | Choanal atresia HP:0002251 | Aganglionic megacolon HP:0007271 | Occipital myelomeningocele HP:0000600 | Abnormality of the pharynx HP:0012732 | Anorectal anomaly HP:0000369 | Low-set ears HP:0005692 | Joint hyperflexibility HP:0000316 | Hypertelorism HP:0001643 | Patent ductus arteriosus HP:0000778 | Hypoplasia of the thymus HP:0011324 | Multiple suture craniosynostosis HP:0000739 | Anxiety HP:0002414 | Spina bifida HP:0000076 | Vesicoureteral reflux HP:0012303 | Abnormality of the aortic arch HP:0000494 | Downslanted palpebral fissures HP:0002020 | Gastroesophageal reflux HP:0001250 | Seizures HP:0100750 | Atelectasis HP:0002650 | Scoliosis HP:0001641 | Abnormality of the pulmonary valve HP:0000389 | Chronic otitis media HP:0007302 | Bipolar affective disorder HP:0100753 | Schizophrenia HP:0000385 | Small earlobe HP:0000765 | Abnormality of the thorax HP:0001328 | Specific learning disability HP:0002619 | Varicose veins HP:0001611 | Nasal speech HP:0002139 | Arrhinencephaly HP:0000470 | Short neck HP:0000568 | Microphthalmia HP:0011662 | Tricuspid atresia HP:0000518 | Cataract HP:0006510 | Chronic obstructive pulmonary disease HP:0002019 | Constipation HP:0002099 | Asthma HP:0002691 | Platybasia HP:0003326 | Myalgia HP:0001537 | Umbilical hernia HP:0001053 | Hypopigmented skin patches HP:0000486 | Strabismus HP:0001511 | Intrauterine growth retardation HP:0000979 | Purpura HP:0001829 | Foot polydactyly HP:0002901 | Hypocalcemia HP:0000627 | Posterior embryotoxon HP:0001999 | Abnormal facial shape HP:0007018 | Attention deficit hyperactivity disorder HP:0000717 | Autism HP:0001513 | Obesity HP:0001161 | Hand polydactyly HP:0011496 | Corneal neovascularization HP:0000501 | Glaucoma |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:47) HP:0100753 | Schizophrenia | 11 HP:0000709 | Psychosis | 8 HP:0002721 | Immunodeficiency | 5 HP:0000220 | Velopharyngeal insufficiency | 4 HP:0100543 | Cognitive deficits | 3 HP:0002960 | Autoimmune condition | 3 HP:0001627 | Congenital heart defects | 2 HP:0000708 | Behavioral problems | 2 HP:0001903 | Anemia | 1 HP:0001660 | Common arterial trunk | 1 HP:0002500 | Leukoaraiosis | 1 HP:0001890 | Autoimmune hemolytic anemia | 1 HP:0000829 | Hypoparathyroidism | 1 HP:0002719 | infections, recurrent | 1 HP:0011590 | Double aortic arch | 1 HP:0004948 | Twisted blood vessels | 1 HP:0001999 | Facial dysmorphism | 1 HP:0000078 | Genital abnormalities | 1 HP:0001631 | Atria septal defect | 1 HP:0000659 | Peters anomaly | 1 HP:0001878 | Haemolytic anaemia | 1 HP:0001762 | Talipes equinovarus | 1 HP:0000820 | Thyroid abnormality | 1 HP:0001250 | Seizures | 1 HP:0002835 | Aspiration | 1 HP:0001281 | Tetany | 1 HP:0002475 | Myelomeningocele | 1 HP:0003764 | Naevus | 1 HP:0001636 | Tetrology of fallot | 1 HP:0001607 | Subglottic stenosis | 1 HP:0012841 | Retinal vascular tortuosity | 1 HP:0002389 | Large cavum septi pellucidi | 1 HP:0000554 | Uveitis | 1 HP:0001087 | Childhood glaucoma | 1 HP:0012735 | Coughing | 1 HP:0000563 | Conical cornea | 1 HP:0001263 | Developmental retardation | 1 HP:0000568 | Abnormally small globe of eye | 1 HP:0001888 | Lymphocytopenia | 1 HP:0005359 | Absent thymus | 1 HP:0003198 | Myopathic changes | 1 HP:0002691 | Increased basal angle of skull base | 1 HP:0000824 | Growth hormone deficiency | 1 HP:0000347 | Hypoplasia of mandible | 1 HP:0002527 | Falls | 1 HP:0002090 | Pneumonia | 1 HP:0000716 | Depression | 1 |
| Disease ID | 47 |
|---|---|
| Disease | 22q11.2 deletion syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:8) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:6) C0036341 | schizophrenia | 10 C0033975 | psychosis | 6 C0021051 | immunodeficiency | 2 C0042454 | velopharyngeal insufficiency | 2 C0042164 | uveitis | 1 C0152021 | congenital heart disease | 1 |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| 22q11.2 | - | 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:12) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs175174 | 22763378 | 7353 | UFD1L | umls:C0012236 | BeFree | The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with polymorphisms within the candidate genes: COMT (rs4680), ZDHHC8 (rs175174) and UFD1L (rs5992403). | 0.121628651 | 2012 | ZDHHC8 | 22 | 20140031 | A | G |
| rs175174 | 22763378 | 1312 | COMT | umls:C0012236 | BeFree | The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with polymorphisms within the candidate genes: COMT (rs4680), ZDHHC8 (rs175174) and UFD1L (rs5992403). | 0.279553364 | 2012 | ZDHHC8 | 22 | 20140031 | A | G |
| rs175174 | 22763378 | 29801 | ZDHHC8 | umls:C0012236 | BeFree | The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with polymorphisms within the candidate genes: COMT (rs4680), ZDHHC8 (rs175174) and UFD1L (rs5992403). | 0.000271442 | 2012 | ZDHHC8 | 22 | 20140031 | A | G |
| rs41298838 | NA | 6899 | TBX1 | umls:C0012236 | CLINVAR | NA | 0.579292236 | NA | TBX1 | 22 | 19765921 | G | A |
| rs41298838 | 14585638 | 6899 | TBX1 | umls:C0012236 | UNIPROT | We identified three mutations of TBX1 in two unrelated patients without the 22q11.2 deletion-one with sporadic conotruncal anomaly face syndrome/velocardiofacial syndrome and one with sporadic DiGeorge's syndrome-and in three patients from a family with conotruncal anomaly face syndrome/velocardiofacial syndrome. | 0.579292236 | 2003 | TBX1 | 22 | 19765921 | G | A |
| rs4680 | 20123031 | 1312 | COMT | umls:C0012236 | GAD | [The effects of gender and catechol O-methyltransferase (COMT) Val108/158Met polymorphism on emotion regulation in velo-cardio-facial syndrome (22q11.2 deletion syndrome): An fMRI study.] | 0.279553364 | 2010 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 22763378 | 7353 | UFD1L | umls:C0012236 | BeFree | The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with polymorphisms within the candidate genes: COMT (rs4680), ZDHHC8 (rs175174) and UFD1L (rs5992403). | 0.121628651 | 2012 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 22763378 | 1312 | COMT | umls:C0012236 | BeFree | The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with polymorphisms within the candidate genes: COMT (rs4680), ZDHHC8 (rs175174) and UFD1L (rs5992403). | 0.279553364 | 2012 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs4680 | 22763378 | 29801 | ZDHHC8 | umls:C0012236 | BeFree | The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with polymorphisms within the candidate genes: COMT (rs4680), ZDHHC8 (rs175174) and UFD1L (rs5992403). | 0.000271442 | 2012 | COMT;MIR4761 | 22 | 19963748 | G | A |
| rs5992403 | 22763378 | 29801 | ZDHHC8 | umls:C0012236 | BeFree | The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with polymorphisms within the candidate genes: COMT (rs4680), ZDHHC8 (rs175174) and UFD1L (rs5992403). | 0.000271442 | 2012 | UFD1L;CDC45 | 22 | 19479363 | T | C |
| rs5992403 | 22763378 | 7353 | UFD1L | umls:C0012236 | BeFree | The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with polymorphisms within the candidate genes: COMT (rs4680), ZDHHC8 (rs175174) and UFD1L (rs5992403). | 0.121628651 | 2012 | UFD1L;CDC45 | 22 | 19479363 | T | C |
| rs5992403 | 22763378 | 1312 | COMT | umls:C0012236 | BeFree | The increased volumes in the genu, splenium and total CC in the 22q11DS group were associated with polymorphisms within the candidate genes: COMT (rs4680), ZDHHC8 (rs175174) and UFD1L (rs5992403). | 0.279553364 | 2012 | UFD1L;CDC45 | 22 | 19479363 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:51) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001646 | Abnormality of the aortic valve | 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: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: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: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:0000648 | Optic 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:0000160 | Narrow mouth | MP:0000452 | abnormal mouth morphology | any structural anomaly of the oral cavity |
| HP:0001829 | Foot polydactyly | MP:0009744 | postaxial polydactyly | duplication of all or part of any of the rays except the first ray on one or more of the autopods |
| HP:0001872 | Abnormality of thrombocytes | 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:0002251 | Aganglionic megacolon | MP:0002926 | aganglionic megacolon | extreme dilation of the colon due to defects in innervation from the ganglia, or absence of the ganglia of the myenteric plexus |
| HP:0000426 | Prominent nasal bridge | MP:0009903 | abnormal medial nasal prominence morphology | any structural anomaly of the central area of the two limbs of a horseshoe-shaped mesenchymal swelling that lie medial to the olfactory placode or pit in the future nasal region of the embryo; it joins with the ipsilateral maxillary prominence in the form |
| HP:0000453 | Choanal atresia | MP:0009510 | cecal atresia | congenital blockage or absence of the lumen of the cecum |
| HP:0000600 | Abnormality of the pharynx | MP:0010732 | abnormal node of Ranvier morphology | any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon |
| HP:0100765 | Abnormality of the tonsils | MP:0008158 | increased diameter of femur | increased width of the cross-sectional distance that extends from one lateral edge of the femur, through its center and to the opposite lateral edge |
| HP:0000492 | Abnormality of the eyelid | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| HP:0001999 | Abnormal facial shape | 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: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:0001660 | Truncus 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:0000405 | Conductive hearing impairment | MP:0006325 | impaired hearing | reduced ability to perceive auditory stimuli |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0001641 | Abnormality of the pulmonary valve | MP:0010465 | aberrant origin of the right subclavian artery | the right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta |
| 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: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:0000778 | Hypoplasia of the thymus | 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: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:0001328 | Specific learning disability | MP:0002802 | abnormal discrimination learning | anomaly in the ability to exhibit a differential response to different stimuli that is achieved by the reinforcement of the desired response for each particular stimulus |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0012305 | umbilical cord hemorrhage | bleeding into or from the umbilical cord |
| HP:0002023 | Anal atresia | MP:0006130 | pulmonary valve atresia | congenital closure of the pulmonary valve |
| HP:0006510 | Chronic obstructive pulmonary disease | MP:0010441 | total anomalous pulmonary venous connection | abnormal development and attachment of all four pulmonary veins that normally attach to the left atrium of the heart, resulting in complete anomalous drainage back into the systemic venous circulation via an anomalous connection to the right atrium, the s |
| HP:0000765 | Abnormality of the thorax | 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:0001053 | Hypopigmented skin patches | MP:0004947 | skin inflammation | local accumulation of fluid, plasma proteins, and leukocytes in the skin |
| 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:0000582 | Upslanted palpebral fissure | MP:0012535 | abnormal optic fissure closure | failure to initiate and/or complete closure of the transient gap in the ventral margin of the developing optic cup; fusion of the optic fissure begins with apposition of the inferior lips of the ventral-most optic cup and continues anteriorly toward its r |
| HP:0001161 | Hand polydactyly | MP:0009744 | postaxial polydactyly | duplication of all or part of any of the rays except the first ray on one or more of the autopods |
| 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: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: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:0000276 | Long face | MP:0012546 | triangular face | a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards; usually associated with a prominent forehead and micrognathia |
| HP:0000113 | Polycystic kidney dysplasia | MP:0011565 | kidney papillary hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the apex of the renal pyramid that normally projects into a calyx |
| 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: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: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:0000164 | Abnormality of the teeth | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex |
| 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:0002414 | Spina bifida | MP:0003054 | spina bifida | common congenital midline defect of fusion of the vertebral arch |
| 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:0005435 | Impaired T cell function | MP:0008347 | decreased gamma-delta T cell number | reduced number of immature or mature T cells expressing an gamma-delta T cell receptor complex |
Mapped by homologous gene(Total Items:125) | ||||
|---|---|---|---|---|
| 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:0001161 | Hand polydactyly | 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: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: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:0001744 | Splenomegaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0100750 | Atelectasis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001601 | Laryngomalacia | 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: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:0000821 | Hypothyroidism | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001873 | Thrombocytopenia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0005435 | Impaired T cell function | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| 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:0001328 | Specific learning disability | 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: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:0000160 | Narrow mouth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000113 | Polycystic kidney dysplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001660 | Truncus arteriosus | MP:0013573 | abnormal parathyroid gland development | aberrant formation or incomplete differentiation of either of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland, which secrete parathyroid hormone (PTH), a hormone |
| HP:0002020 | Gastroesophageal reflux | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0002607 | Bowel incontinence | MP:0013438 | dysmyelination | reduced amount of myelin present in the form of a myelin sheath surrounding an axon due to defects in the synthesis and formation of myelin |
| HP:0000343 | Long philtrum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000272 | Malar flattening | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100765 | Abnormality of the tonsils | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| 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:0000829 | Hypoparathyroidism | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| 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:0002357 | Dysphasia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0007302 | Bipolar affective disorder | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0000836 | Hyperthyroidism | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0002139 | Arrhinencephaly | MP:0012251 | abnormal diaphragm development | malformation or incomplete differentiation of the thin musculomembranous barrier separating the abdominal and thoracic cavities and functioning in respiration |
| HP:0001256 | Intellectual disability, mild | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001646 | Abnormality of the aortic valve | 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: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:0000164 | Abnormality of the teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001369 | Arthritis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| 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:0000708 | Behavioral abnormality | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000276 | Long face | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000506 | Telecanthus | 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: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:0100735 | Hypertensive crisis | MP:0011414 | erythruria | passage of red colored urine |
| 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:0002960 | Autoimmunity | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| 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:0000929 | Abnormality of the skull | 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:0000426 | Prominent nasal bridge | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002414 | Spina bifida | 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:0002901 | Hypocalcemia | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0001829 | Foot polydactyly | 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:0000262 | Turricephaly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000405 | Conductive hearing impairment | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006510 | Chronic obstructive pulmonary disease | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001561 | Polyhydramnios | 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:0000568 | Microphthalmia | 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:0000470 | Short neck | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001281 | Tetany | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0001611 | Nasal speech | 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:0000286 | Epicanthus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000494 | Downslanted palpebral fissures | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001166 | Arachnodactyly | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| 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: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: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:0000322 | Short philtrum | 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:0000396 | Overfolded helix | 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: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:0001081 | Cholelithiasis | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000600 | Abnormality of the pharynx | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001061 | Acne | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002435 | Meningocele | MP:0013349 | small Rathke's pouch | reduced size of the pouch of ectoderm which grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland |
| HP:0002023 | Anal atresia | 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: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:0002619 | Varicose veins | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| 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:0000627 | Posterior embryotoxon | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002251 | Aganglionic megacolon | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000765 | Abnormality of the thorax | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000670 | Carious teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001999 | Abnormal facial shape | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002099 | Asthma | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000582 | Upslanted palpebral fissure | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001263 | Global developmental delay | 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: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:0011496 | Corneal neovascularization | MP:0008658 | decreased interleukin-1 beta secretion | reduction in the production or release of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the |
| HP:0001051 | Seborrheic dermatitis | MP:0013174 | pharynx stenosis | abnormal narrowing or constriction of the passage between the mouth and the posterior nares and the larynx and esophagus |
| HP:0000414 | Bulbous nose | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000089 | Renal hypoplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000385 | Small earlobe | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| 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:0001641 | Abnormality of the pulmonary valve | 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:0000431 | Wide nasal bridge | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000648 | Optic atrophy | 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: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:0002650 | Scoliosis | 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:0002691 | Platybasia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| 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:0001872 | Abnormality of thrombocytes | MP:0014071 | increased cardiac muscle glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in heart muscle |
| HP:0000316 | Hypertelorism | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002721 | Immunodeficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0006525 | Lung segmentation defects | MP:0011520 | increased placental labyrinth size | increase in the size of the structure where embryonic blood vessels are surrounded by trophoblast cells and maternal blood |
| HP:0000076 | Vesicoureteral reflux | MP:0014155 | absent olfactory epithelium | absence of the epithelial cells that line the interior of the nose |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001053 | Hypopigmented skin patches | 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: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: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:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000492 | Abnormality of the eyelid | 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:0000778 | Hypoplasia of the thymus | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001762 | Talipes equinovarus | 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:0000979 | Purpura | 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:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000369 | Low-set ears | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| 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 |
| HP:0100753 | Schizophrenia | 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 |
| Disease ID | 47 |
|---|---|
| Disease | 22q11.2 deletion syndrome |
| Case | (Waiting for update.) |