eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| fanconi anemia | ||||
| Disease ID | 9 |
|---|---|
| Disease | fanconi anemia |
| Definition | Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004) |
| Synonym | anemia fanconi anemia fanconi's anemia fanconis anemia, fanconi anemia, fanconi's anemias, fanconi congenital aplastic anemia congenital pancytopenia constitutional aplastic anemia fa fanconi anemia [disease/finding] fanconi anemias fanconi hypoplastic anemia fanconi pancytopenia fanconi pancytopenia syndrome fanconi panmyelopathy fanconi's anaemia fanconi's anemia fanconi's anemia (disorder) fanconi's familial refractory anaemia fanconi's familial refractory anemia fanconi's hypoplastic anaemia fanconi's hypoplastic anemia pancytopenia, congenital panmyelopathy, fanconi primary erythroid hypoplasia |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0015625 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:30) C0030312 | bone marrow failure | 7 C0007137 | squamous cell carcinoma | 3 C0030312 | pancytopenia | 2 C0023470 | myeloid leukemia | 2 C0023418 | leukemia | 2 C0026986 | myelodysplastic syndrome | 2 C0023467 | acute myeloid leukemia | 2 C0027708 | nephroblastoma | 1 C0025149 | medulloblastoma | 1 C0014859 | esophageal cancer | 1 C0035309 | retinopathy | 1 C0002874 | aplastic anemia | 1 C0026654 | moyamoya disease | 1 C0008925 | cleft palate | 1 C0027708 | wilms tumor | 1 C0280856 | vulvar squamous cell carcinoma | 1 C0265343 | vertebral anomalies | 1 C0154832 | coats disease | 1 C0023449 | acute lymphoblastic leukemia | 1 C0023448 | lymphoblastic leukemia | 1 C0026654 | moyamoya | 1 C0007137 | squamous cell carcinomas | 1 C1568868 | oral mucositis | 1 C0040034 | thrombocytopenia | 1 C0025958 | microcephaly | 1 C0011334 | cavities | 1 C0007131 | nsclc | 1 C0279626 | esophageal squamous cell carcinoma | 1 C0026946 | fungal infection | 1 C0027819 | neuroblastoma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:22) 7124 | TNF | CTD_human 2188 | FANCF | CTD_human;GHR;ORPHANET;UNIPROT;UniProtKB-KW 83990 | BRIP1 | CTD_human;GHR;ORPHANET;UNIPROT;UniProtKB-KW 5888 | RAD51 | UniProtKB-KW 675 | BRCA2 | CTD_human;GHR;ORPHANET;UNIPROT;UniProtKB-KW 84464 | SLX4 | CTD_human;ORPHANET;GHR;UniProtKB-KW 2072 | ERCC4 | ORPHANET;UniProtKB-KW 2175 | FANCA | CLINVAR;GHR;ORPHANET;UniProtKB-KW;UNIPROT;CTD_human 79728 | PALB2 | GHR;ORPHANET;UNIPROT;UniProtKB-KW 57697 | FANCM | CTD_human;GHR;ORPHANET;UNIPROT 2189 | FANCG | CLINVAR;GHR;ORPHANET;UniProtKB-KW;UNIPROT;CTD_human 2177 | FANCD2 | CTD_human;GHR;ORPHANET;UNIPROT;UniProtKB-KW 5889 | RAD51C | CTD_human;ORPHANET;GHR;UniProtKB-KW 55120 | FANCL | CTD_human;GHR;ORPHANET;UNIPROT;UniProtKB-KW 2178 | FANCE | CTD_human;GHR;ORPHANET;UNIPROT;UniProtKB-KW 2187 | FANCB | CTD_human;GHR;ORPHANET;UNIPROT;UniProtKB-KW 4599 | MX1 | CTD_human 2176 | FANCC | CLINVAR;GHR;ORPHANET;UniProtKB-KW;UNIPROT;CTD_human 7516 | XRCC2 | UniProtKB-KW 55215 | FANCI | GHR;ORPHANET;UNIPROT;UniProtKB-KW 29089 | UBE2T | ORPHANET;UniProtKB-KW 10459 | MAD2L2 | UniProtKB-KW |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:16) 2175 | FANCA | CIPHER;CTD_human 2176 | FANCC | CIPHER;CTD_human 7012 | TERC | CIPHER 84464 | SLX4 | CTD_human 83990 | BRIP1 | CTD_human 57697 | FANCM | CTD_human 2189 | FANCG | CTD_human 2177 | FANCD2 | CTD_human 5889 | RAD51C | CTD_human 55120 | FANCL | CTD_human 2188 | FANCF | CTD_human 2178 | FANCE | CTD_human 2187 | FANCB | CTD_human 4599 | MX1 | CTD_human 675 | BRCA2 | CTD_human 7124 | TNF | CTD_human |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:130) 130 | ADH6 | 1.305 | DISEASES 55107 | ANO1 | 2.546 | DISEASES 5926 | ARID4A | 1.18 | DISEASES 545 | ATR | 1.299 | DISEASES 84126 | ATRIP | 3.799 | DISEASES 546 | ATRX | 1.498 | DISEASES 29086 | BABAM1 | 1.469 | DISEASES 54880 | BCOR | 1.126 | DISEASES 641 | BLM | 3.797 | DISEASES 8315 | BRAP | 1.448 | DISEASES 672 | BRCA1 | 5.327 | DISEASES 675 | BRCA2 | 5.874 | DISEASES 79184 | BRCC3 | 2.593 | DISEASES 8558 | CDK10 | 1.412 | DISEASES 51755 | CDK12 | 1.22 | DISEASES 1111 | CHEK1 | 4.109 | DISEASES 11200 | CHEK2 | 2.467 | DISEASES 5119 | CHMP1A | 1.917 | DISEASES 9937 | DCLRE1A | 4.701 | DISEASES 64858 | DCLRE1B | 4.541 | DISEASES 64421 | DCLRE1C | 1.51 | DISEASES 23109 | DDN | 1.123 | DISEASES 1663 | DDX11 | 4.202 | DISEASES 1719 | DHFR | 1.258 | DISEASES 1736 | DKC1 | 2.816 | DISEASES 1763 | DNA2 | 3.521 | DISEASES 146956 | EME1 | 2.989 | DISEASES 56943 | ENY2 | 1.605 | DISEASES 2068 | ERCC2 | 1.149 | DISEASES 51513 | ETV7 | 1.449 | DISEASES 84142 | FAM175A | 1.618 | DISEASES 22909 | FAN1 | 4.098 | DISEASES 2175 | FANCA | 7.794 | DISEASES 2187 | FANCB | 4.761 | DISEASES 2188 | FANCF | 6.42 | DISEASES 2189 | FANCG | 6.838 | DISEASES 55120 | FANCL | 6.155 | DISEASES 84893 | FBXO18 | 3.241 | DISEASES 2624 | GATA2 | 1.924 | DISEASES 199720 | GGN | 2.159 | DISEASES 449520 | GGNBP1 | 3.569 | DISEASES 2803 | GOLGA4 | 1.129 | DISEASES 29933 | GPR132 | 1.614 | DISEASES 2993 | GYPA | 1.302 | DISEASES 3014 | H2AFX | 3.452 | DISEASES 3320 | HSP90AA1 | 1.194 | DISEASES 3543 | IGLL1 | 1.103 | DISEASES 25896 | INTS7 | 2.021 | DISEASES 79711 | IPO4 | 2.113 | DISEASES 10524 | KAT5 | 1.894 | DISEASES 3981 | LIG4 | 1.933 | DISEASES 9261 | MAPKAPK2 | 1.522 | DISEASES 84515 | MCM8 | 2.279 | DISEASES 9656 | MDC1 | 2.913 | DISEASES 4221 | MEN1 | 1.056 | DISEASES 10933 | MORF4L1 | 2.462 | DISEASES 4352 | MPL | 2.071 | DISEASES 79661 | NEIL1 | 1.794 | DISEASES 79840 | NHEJ1 | 1.144 | DISEASES 55505 | NOP10 | 1.176 | DISEASES 51686 | OAZ3 | 1.883 | DISEASES 142 | PARP1 | 3.312 | DISEASES 55010 | PARPBP | 1.166 | DISEASES 23133 | PHF8 | 1.147 | DISEASES 5429 | POLH | 1.588 | DISEASES 353497 | POLN | 3.129 | DISEASES 5682 | PSMA1 | 1.276 | DISEASES 5688 | PSMA7 | 2.941 | DISEASES 10213 | PSMD14 | 1.537 | DISEASES 5884 | RAD17 | 1.72 | DISEASES 5888 | RAD51 | 5.588 | DISEASES 5889 | RAD51C | 5.21 | DISEASES 5892 | RAD51D | 3.208 | DISEASES 5893 | RAD52 | 2.282 | DISEASES 25788 | RAD54B | 1.295 | DISEASES 8438 | RAD54L | 1.209 | DISEASES 5932 | RBBP8 | 2.071 | DISEASES 9939 | RBM8A | 1.749 | DISEASES 5965 | RECQL | 2.597 | DISEASES 5980 | REV3L | 2.914 | DISEASES 5985 | RFC5 | 1.878 | DISEASES 55159 | RFWD3 | 3.283 | DISEASES 64864 | RFX7 | 2.539 | DISEASES 165918 | RNF168 | 2.725 | DISEASES 9025 | RNF8 | 3.444 | DISEASES 140823 | ROMO1 | 1.537 | DISEASES 6118 | RPA2 | 2.002 | DISEASES 6144 | RPL21 | 1.413 | DISEASES 6232 | RPS27 | 1.419 | DISEASES 6188 | RPS3 | 1.283 | DISEASES 51750 | RTEL1 | 2.374 | DISEASES 49855 | SCAPER | 1.992 | DISEASES 26054 | SENP6 | 1.405 | DISEASES 83650 | SLC35G5 | 1.018 | DISEASES 79008 | SLX1B | 4.341 | DISEASES 6597 | SMARCA4 | 1.532 | DISEASES 8303 | SNN | 1.17 | DISEASES 27131 | SNX5 | 2.887 | DISEASES 10638 | SPHAR | 2.286 | DISEASES 6709 | SPTAN1 | 2.253 | DISEASES 6711 | SPTBN1 | 1.955 | DISEASES 6731 | SRP72 | 2.174 | DISEASES 6772 | STAT1 | 1.712 | DISEASES 55240 | STEAP3 | 1.127 | DISEASES 51567 | TDP2 | 1.283 | DISEASES 7012 | TERC | 1.986 | DISEASES 54790 | TET2 | 1.94 | DISEASES 7124 | TNF | 1.655 | DISEASES 7150 | TOP1 | 1.308 | DISEASES 7153 | TOP2A | 1.401 | DISEASES 7156 | TOP3A | 2.03 | DISEASES 7158 | TP53BP1 | 3.552 | DISEASES 7272 | TTK | 3.145 | DISEASES 7284 | TUFM | 1.349 | DISEASES 7329 | UBE2I | 1.225 | DISEASES 29089 | UBE2T | 5.486 | DISEASES 55284 | UBE2W | 2.345 | DISEASES 51720 | UIMC1 | 3.355 | DISEASES 90249 | UNC5A | 1.084 | DISEASES 7398 | USP1 | 5.278 | DISEASES 64854 | USP46 | 2.809 | DISEASES 91833 | WDR20 | 1.183 | DISEASES 56897 | WRNIP1 | 1.015 | DISEASES 7507 | XPA | 3.323 | DISEASES 7516 | XRCC2 | 3.643 | DISEASES 7517 | XRCC3 | 2.593 | DISEASES 7518 | XRCC4 | 1.784 | DISEASES 2547 | XRCC6 | 1.885 | DISEASES 92822 | ZNF276 | 2.817 | DISEASES 54993 | ZSCAN2 | 3.219 | DISEASES |
| Locus | Symbol | Locus(Total Locus:17) |
| Disease ID | 9 |
|---|---|
| Disease | fanconi anemia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:106) HP:0000639 | Nystagmus HP:0000028 | Cryptorchidism HP:0002023 | Anal atresia HP:0004322 | Short stature HP:0000027 | Azoospermia HP:0000365 | Hearing impairment HP:0000218 | High palate HP:0001871 | Abnormality of blood and blood-forming tissues HP:0000079 | Abnormality of the urinary system HP:0000347 | Micrognathia HP:0000130 | Abnormality of the uterus HP:0001636 | Tetralogy of Fallot HP:0001903 | Anemia HP:0000478 | Abnormality of the eye HP:0000175 | Cleft palate HP:0001646 | Abnormality of the aortic valve HP:0007400 | Irregular hyperpigmentation HP:0000252 | Microcephaly HP:0000813 | Bicornuate uterus HP:0001392 | Abnormality of the liver HP:0004209 | Clinodactyly of the 5th finger HP:0010293 | Aplasia/Hypoplasia of the uvula HP:0005344 | Abnormality of the carotid arteries HP:0012041 | Decreased fertility in males HP:0000520 | Proptosis HP:0002245 | Meckel diverticulum HP:0005522 | Pyridoxine-responsive sideroblastic anemia HP:0012745 | Short palpebral fissure HP:0100760 | Clubbing of toes HP:0000010 | Recurrent urinary tract infections HP:0000508 | Ptosis HP:0001631 | Atrial septal defect HP:0000047 | Hypospadias HP:0000582 | Upslanted palpebral fissure HP:0006101 | Finger syndactyly HP:0001873 | Thrombocytopenia HP:0002007 | Frontal bossing HP:0003220 | Abnormality of chromosome stability HP:0003022 | Hypoplasia of the ulna HP:0000286 | Epicanthus HP:0000324 | Facial asymmetry HP:0000483 | Astigmatism HP:0001760 | Abnormality of the foot HP:0012210 | Abnormal renal morphology HP:0001249 | Intellectual disability HP:0006501 | Aplasia/Hypoplasia of the radius HP:0001199 | Triphalangeal thumb HP:0100867 | Duodenal stenosis HP:0007565 | Multiple cafe-au-lait spots HP:0000238 | Hydrocephalus HP:0001671 | Abnormality of the cardiac septa HP:0000035 | Abnormality of the testis HP:0001263 | Global developmental delay HP:0000492 | Abnormality of the eyelid HP:0002119 | Ventriculomegaly HP:0000072 | Hydroureter HP:0000453 | Choanal atresia HP:0001562 | Oligohydramnios HP:0002251 | Aganglionic megacolon HP:0002575 | Tracheoesophageal fistula HP:0008678 | Renal hypoplasia/aplasia HP:0100587 | Abnormality of the preputium HP:0001882 | Leukopenia HP:0008053 | Aplasia/Hypoplasia of the iris HP:0000316 | Hypertelorism HP:0001643 | Patent ductus arteriosus HP:0002414 | Spina bifida HP:0002650 | Scoliosis HP:0001679 | Abnormality of the aorta HP:0006265 | Aplasia/Hypoplasia of fingers HP:0000504 | Abnormality of vision HP:0000505 | Visual impairment HP:0001347 | Hyperreflexia HP:0100542 | Abnormal localization of kidney HP:0000364 | Hearing abnormality HP:0002827 | Hip dislocation HP:0002863 | Myelodysplasia HP:0001763 | Pes planus HP:0012639 | Abnormality of nervous system morphology HP:0002817 | Abnormality of the upper limb HP:0004349 | Reduced bone mineral density HP:0000340 | Sloping forehead HP:0100026 | Arteriovenous malformation HP:0000568 | Microphthalmia HP:0000518 | Cataract HP:0007874 | Almond-shaped palpebral fissure HP:0001770 | Toe syndactyly HP:0001824 | Weight loss HP:0001000 | Abnormality of skin pigmentation HP:0000135 | Hypogonadism HP:0000083 | Renal insufficiency HP:0001537 | Umbilical hernia HP:0001053 | Hypopigmented skin patches HP:0000486 | Strabismus HP:0001172 | Abnormality of the thumb HP:0001639 | Hypertrophic cardiomyopathy HP:0001511 | Intrauterine growth retardation HP:0002823 | Abnormality of the femur HP:0001510 | Growth delay HP:0002664 | Neoplasm HP:0000268 | Dolichocephaly HP:0000864 | Abnormality of the hypothalamus-pituitary axis HP:0006824 | Cranial nerve paralysis HP:0008572 | External ear malformation HP:0010469 | Aplasia of the testes HP:0002997 | Abnormality of the ulna |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:26) HP:0005528 | Bone marrow hypoplasia | 7 HP:0002860 | Squamous cell carcinoma | 3 HP:0030731 | Carcinoma | 2 HP:0001909 | Leukemia | 2 HP:0002667 | Wilms tumor | 2 HP:0004808 | Acute myelogenous leukemia | 2 HP:0001876 | Low blood cell count | 2 HP:0002863 | Myelodysplastic syndrome | 2 HP:0002664 | Neoplasia | 2 HP:0012324 | Myeloid leukemia | 2 HP:0001510 | Growth deficiency | 1 HP:0003006 | Neuroblastoma | 1 HP:0002885 | Medulloblastoma | 1 HP:0001873 | Low platelet count | 1 HP:0006721 | Acute lymphocytic leukemia | 1 HP:0000488 | Noninflammatory retina disease | 1 HP:0001915 | Aplastic anemia | 1 HP:0001000 | Pigmentary changes | 1 HP:0002745 | Oral idiopathic leukoplakia | 1 HP:0002894 | Neoplasia of the pancreas | 1 HP:0010442 | Polydactyly | 1 HP:0003468 | Vertebral anomalies | 1 HP:0001177 | Preaxial hand polydactyly | 1 HP:0000175 | Palatoschisis | 1 HP:0000252 | Small head circumference | 1 HP:0001920 | Renal artery stenosis | 1 |
| Disease ID | 9 |
|---|---|
| Disease | fanconi anemia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:24) C2697453 | hepatic adenoma C2030367 | hematologic symptoms C1963137 | hydrocephalus C1512411 | hepatocellular carcinoma C1334820 | multifocal osteosarcoma C0856825 | acute graft-versus-host disease C0546837 | esophageal cancer C0456909 | vision loss C0343387 | neutropenic enterocolitis C0339590 | phacomorphic glaucoma C0085692 | hemorrhagic cystitis C0037285 | skin manifestations C0036690 | septicemia C0033027 | preleukemia C0030781 | peliosis hepatis C0030312 | bone marrow failure C0026986 | myelodysplastic syndrome C0021359 | infertility C0020302 | congenital glaucoma C0018133 | graft-versus-host disease C0018050 | gonadal dysfunction C0007137 | squamous cell carcinomas C0007137 | squamous cell carcinoma C0007131 | non-small cell lung cancer |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:8) C0030312 | bone marrow failure | 7 C0007137 | squamous cell carcinoma | 2 C0026986 | myelodysplastic syndrome | 2 C0018133 | graft-versus-host disease | 2 C0007137 | squamous cell carcinomas | 1 C0346564 | carcinoma of base of tongue | 1 C0014859 | esophageal cancer | 1 C0280856 | vulvar squamous cell carcinoma | 1 |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| PALB2 | NM_024675.3: c.1676A>G, p.(Gln559Arg) | doi:10.1038/gim.2016.153 | A comprehensive strategy for exome-based preconception carrier screening |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:13) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104886456 | NA | 2176 | FANCC | umls:C0015625 | CLINVAR | NA | 0.394728204 | NA | FANCC | 9 | 95172033 | T | A |
| rs11571707 | 19851859 | 675 | BRCA2 | umls:C0015625 | BeFree | A BRCA2 germline mutation (p.Ile2490Thr), previously reported in breast cancer and, as compound heterozygote, in Fanconi anemia, was identified in the 21-year-old patient diagnosed after pregnancy, negative for cancer family history. | 0.267359547 | 2010 | BRCA2 | 13 | 32356461 | T | C |
| rs121917783 | 20509860 | 2176 | FANCC | umls:C0015625 | BeFree | Accordingly, a homozygous inactivating FANCC nonsense mutation (c.553C > T, p.R185X) was identified in HuH-7, resulting in partial transcriptional skipping of exon 6 and leading to the classic cellular FA hypersensitivity phenotype; HuH-7 cells exhibited a strongly reduced proliferation rate and a pronounced G2 cell cycle arrest at distinctly lower concentrations of ICL-agents than a panel of non-isogenic, FA pathway-proficient HCC cell lines. | 0.394728204 | 2010 | FANCC | 9 | 95150056 | G | A |
| rs121917783 | 7746424 | 2176 | FANCC | umls:C0015625 | BeFree | Both are compound heterozygotes for the 322delG and R185X mutations in the FA complementation group C (FACC) gene. | 0.394728204 | 1995 | FANCC | 9 | 95150056 | G | A |
| rs121917783 | 20509860 | 284424 | MIR7-3HG | umls:C0015625 | BeFree | Accordingly, a homozygous inactivating FANCC nonsense mutation (c.553C > T, p.R185X) was identified in HuH-7, resulting in partial transcriptional skipping of exon 6 and leading to the classic cellular FA hypersensitivity phenotype; HuH-7 cells exhibited a strongly reduced proliferation rate and a pronounced G2 cell cycle arrest at distinctly lower concentrations of ICL-agents than a panel of non-isogenic, FA pathway-proficient HCC cell lines. | 0.000271442 | 2010 | FANCC | 9 | 95150056 | G | A |
| rs267606997 | 25154786 | 5889 | RAD51C | umls:C0015625 | BeFree | The RAD51C missense mutation p.Arg258His has previously been identified in a homozygous state in a patient with Fanconi anemia. | 0.243800186 | 2015 | RAD51C | 17 | 58709926 | G | A |
| rs756367276 | NA | 2175 | FANCA | umls:C0015625 | CLINVAR | NA | 0.392255432 | NA | FANCA | 16 | 89761961 | - | A |
| rs780825099 | NA | 2175 | FANCA | umls:C0015625 | CLINVAR | NA | 0.392255432 | NA | FANCA | 16 | 89765062 | T | G |
| rs786204204 | NA | 2175 | FANCA | umls:C0015625 | CLINVAR | NA | 0.392255432 | NA | FANCA | 16 | 89814517 | T | G |
| rs786204205 | NA | 2189 | FANCG | umls:C0015625 | CLINVAR | NA | 0.372777631 | NA | FANCG;VCP | 9 | 35074384 | C | A |
| rs786204238 | NA | 2175 | FANCA | umls:C0015625 | CLINVAR | NA | 0.392255432 | NA | FANCA;SPIRE2 | 16 | 89815969 | C | - |
| rs786204246 | NA | 2175 | FANCA | umls:C0015625 | CLINVAR | NA | 0.392255432 | NA | FANCA | 16 | 89746834 | GAA | - |
| rs80358638 | 14559878 | 675 | BRCA2 | umls:C0015625 | BeFree | Two other kindreds each contained a Fanconi anemia-afflicted child who developed medulloblastoma; one child was of Latin American ancestry and a compound heterozygote for BRCA2*I2490T/ 5301insA and the other was African American and a compound heterozygote for BRCA2*Q3066X/E1308X. | 0.267359547 | 2003 | BRCA2 | 13 | 32338277 | G | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:52) | ||||
|---|---|---|---|---|
| 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: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:0001172 | Abnormality of the thumb | MP:0006241 | abnormal placement of pupils | abnormal location of the pupil so that it is not in the center of the iris |
| HP:0006501 | Aplasia/Hypoplasia of the radius | 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:0006101 | Finger syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP:0006824 | Cranial nerve paralysis | MP:0006303 | abnormal retinal nerve fiber layer morphology | any structural anomaly of the layer of the retina formed by expansion of the fibers of the optic nerve |
| 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:0000453 | Choanal atresia | MP:0009510 | cecal atresia | congenital blockage or absence of the lumen of the cecum |
| HP:0001770 | Toe syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP: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:0010469 | Aplasia of the testes | MP:0010706 | ventral rotation of lens | a circular shift toward the ventral pole in the position of the equator of the lens relative to the optic nerve exit point |
| HP:0000218 | High palate | MP:0011615 | submucous cleft palate | a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate |
| HP:0001392 | Abnormality of the liver | 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:0001639 | Hypertrophic cardiomyopathy | MP:0005330 | cardiomyopathy | diseases of the heart (myocardium); may result from many causes |
| 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:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0002997 | Abnormality of the ulna | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0000504 | Abnormality of vision | MP:0012528 | abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the |
| HP:0001000 | Abnormality of skin pigmentation | 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:0001760 | Abnormality of the foot | 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: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:0000079 | Abnormality of the urinary system | 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: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:0012210 | Abnormal renal morphology | MP:0004505 | decreased renal glomerulus number | reduced number of the capillary loops of the kidney that normally function as a filtration unit |
| HP:0100760 | Clubbing of toes | MP:0001841 | decreased level of surface class I molecules | reduced expression of major histocompatibility complex class I molecules at the cell surface |
| HP:0003220 | Abnormality of chromosome stability | MP:0006241 | abnormal placement of pupils | abnormal location of the pupil so that it is not in the center of the iris |
| 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:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| 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:0100542 | Abnormal localization of kidney | MP:0009657 | failure of chorioallantoic fusion | failure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois |
| HP:0002023 | Anal atresia | MP:0006130 | pulmonary valve atresia | congenital closure of the pulmonary valve |
| HP:0000478 | Abnormality of the eye | 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:0008572 | External ear malformation | MP:0006286 | inner ear hypoplasia | underdevelopment or reduced size of inner ear structures, usually due to decreased cell number |
| 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:0001871 | Abnormality of blood and blood-forming tissues | MP:0004686 | decreased length of long bones | reduced end-to-end length of the several elongated bones of the extremities |
| 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:0004349 | Reduced bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
| 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:0000813 | Bicornuate uterus | MP:0003558 | absent uterus | absence of the female muscular organ of gestation |
| HP:0001679 | Abnormality of the aorta | 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:0000864 | Abnormality of the hypothalamus-pituitary axis | MP:0004686 | decreased length of long bones | reduced end-to-end length of the several elongated bones of the extremities |
| HP:0000035 | Abnormality of the testis | 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: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: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:0003022 | Hypoplasia of the ulna | 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:0002817 | Abnormality of the upper limb | MP:0004686 | decreased length of long bones | reduced end-to-end length of the several elongated bones of the extremities |
| HP:0002823 | Abnormality of the femur | 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: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:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:101) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0000864 | Abnormality of the hypothalamus-pituitary axis | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP: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: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: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:0001760 | Abnormality of the foot | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002997 | Abnormality of the ulna | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0001873 | Thrombocytopenia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0000483 | Astigmatism | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| 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:0000027 | Azoospermia | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000218 | High palate | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP: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:0012745 | Short palpebral fissure | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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: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:0001172 | Abnormality of the thumb | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| 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:0002664 | Neoplasm | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| 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:0001347 | Hyperreflexia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001871 | Abnormality of blood and blood-forming tissues | MP:0013367 | parotid gland inflammation | local accumulation of fluid, plasma proteins, and leukocytes in either of the largest of the major salivary glands situated below and in front of each ear |
| HP:0006501 | Aplasia/Hypoplasia of the radius | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100867 | Duodenal stenosis | 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:0000364 | Hearing abnormality | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002827 | Hip dislocation | 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:0000813 | Bicornuate uterus | 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:0000035 | Abnormality of the testis | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP: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:0001199 | Triphalangeal thumb | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003220 | Abnormality of chromosome stability | 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:0001392 | Abnormality of the liver | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000072 | Hydroureter | 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:0000286 | Epicanthus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100760 | Clubbing of toes | MP:0012009 | early parturition | the process of labor and delivery in female animals occurs earlier in gestation than expected |
| HP:0000079 | Abnormality of the urinary system | 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: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:0100542 | Abnormal localization of kidney | 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:0001763 | Pes planus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002823 | Abnormality of the femur | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002007 | Frontal bossing | 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:0000268 | Dolichocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001631 | Atria septal defect | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001679 | Abnormality of the aorta | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| HP:0000135 | Hypogonadism | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0001770 | Toe syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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: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:0001000 | Abnormality of skin pigmentation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0010469 | Aplasia of the testes | 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:0002251 | Aganglionic megacolon | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002817 | Abnormality of the upper limb | MP:0013205 | abnormal nonmotile primary cilium morphology | any structural anomaly of a primary cilium which contains a variable array of axonemal microtubules but does not contain molecular motors; nonmotile primary cilia are found on many different cell types and function as sensory organelles that concentrate a |
| 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:0006101 | Finger syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0001882 | Leukopenia | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0003022 | Hypoplasia of the ulna | 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:0000520 | Proptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| 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:0000639 | Nystagmus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP: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:0008678 | Renal hypoplasia/aplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100026 | Arteriovenous malformation | 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: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:0000478 | Abnormality of the eye | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002119 | Ventriculomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0001903 | Anemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000324 | Facial asymmetry | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0000340 | Sloping forehead | 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:0007874 | Almond-shaped palpebral fissure | MP:0012307 | impaired spatial learning | impaired ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues |
| HP:0001510 | Growth delay | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0008572 | External ear malformation | 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:0012210 | Abnormal renal morphology | 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:0007565 | Multiple cafe-au-lait spots | MP:0014040 | increased cellular sensitivity to DNA damaging agents | greater incidence of cell death following exposure to agents that cause DNA damage |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| 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:0002245 | Meckel diverticulum | MP:0014051 | abnormal maxillary-premaxillary suture morphology | any structural anomaly of the line of union of the two portions of the maxilla (pre- and postmaxilla) |
| HP:0007400 | Irregular hyperpigmentation | 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:0000175 | Cleft palate | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000083 | Renal insufficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001562 | Oligohydramnios | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| 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: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: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:0000504 | Abnormality of vision | 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:0004349 | Reduced bone mineral density | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002863 | Myelodysplasia | 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: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:0006824 | Cranial nerve paralysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100587 | Abnormality of the preputium | MP:0011085 | postnatal lethality, complete penetrance | premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age) |
| Disease ID | 9 |
|---|---|
| Disease | fanconi anemia |
| Case | (Waiting for update.) |