All diseases

40 entries on 1 page. Showing entries 1 - 40.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01735 - cystathioninuria 219500 AR - - CTH - -
01845 - homocysteinemia, due to deficiency of MTHFR 236250 AR - - MTHFR - -
03208 AHUS6 hemolyticuremic syndrome, atypical, type 6 (AHUS6) 612926 AD - - THBD - -
06222 ANIB12 ?Aneurysm, intracranial berry, 12 618734 - - - THSD1 - -
03591 Barrett esophagus Barrett esophagus / esophageal adenocarcinoma 614266 - 4 4 ASCC1, CTHRC1, MSR1 - -
03390 BBIS Beaulieu-Boycott-Innes syndrome (BBIS) 613680 AR 7 7 THOC6 - autosomal recessive
03320 BDE2 brachydactyly type E2 (BD-E2) 613382 AD 16 13 PTHLH - -
01708 BOCD chondrodysplasia, Blomstrand type (BOCD) 215045 AR 7 - PTH1R - -
02514 CAMT thrombocytopenia, amegakaryocytic, congenital (CAMT) - AR - - MPL, THPO - -
07020 CAMT2 thrombocytopenia, megakaryocytic, congenital, type 2 620481 AR - - THPO - -
03651 CHNG6 hypothyroidism, congenital, nongoitrous, type 6 (CHNG6) 614450 AD - - THRA - -
06239 CIMAH Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 617780 AR - - MTHFD1 - -
00091 CRC cancer, colorectal, susceptibility to (CRC) 114500 AD;SMu 3065 1838 AKT1, APC, AURKA, AXIN2, BAX, BUB1B, CCND1, CTNNB1, DCC, DLC1, EP300, FGFR3, FLCN, MCC, MLH3, NRAS, NTHL1, ODC1, PDGFRL, PIK3CA, 7 more - -
00108 DYT dystonia (DYT) - - 175 215 GNAL, KMT2B, THAP1 - -
02435 DYT6 dystonia, type 6, torsion (DYT6) 602629 AD - - THAP1 - -
02426 EE ethylmalonic encephalopathy 602473 AR 3 3 ETHE1 - -
02281 Eiken Eiken syndrome (Eiken) 600002 AR 4 - PTH1R - -
04600 FAP3 adenomatous polyposis, familial, type 23 (FAP-3) 616415 AR - - NTHL1 - -
00892 FIH1 hypoparathyroidism, familial isolated, type 1 (FIH) 146200 AD;AR - - GCM2, PTH - autosomal dominant
01584 GRTH Thyroid hormone resistance, generalized, autosomal dominant 188570 AD 1 - THRB - -
02095 GRTH Thyroid hormone resistance, generalized, autosomal recessive 274300 AR - - THRB - -
03983 HFE5 hemochromatosis, type 5 (HFE-5) 615517 AD 1 1 FTH1 - -
00139 ID intellectual disability (ID) - - 2695 2377 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
02474 IDD intervertebral disc disease (IDD) 603932 - 2 - ASPN, CILP, COL11A1, COL9A2, COL9A3, THBS2 - -
01435 MCDJ chondrodysplasia, metaphyseal, Murk Jansen type 156400 AD 12 - PTH1R - -
05032 MRX12;MRX35 mental retardation, X-linked, type 12/35 (MRX12;MRX35) 300957 XLR 1 1 THOC2 - -
05611 NDD neurodevelopmental disorder (NDD) - - 3778 3593 ACBD6, ADARB1, AP1G1, ARFGEF1, ATP9A, CAMSAP1, CAPRIN1, CASP2, CHASERR, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, EEFSEC, EIF2C1, EIF2C2, EIF4A2, 74 more - -
06276 NEDMEHM Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination 618367 AR 2 2 MTHFS - -
02381 NTDFS neural tube defects, folate-sensitive (NTDFS) 601634 AR - - MTHFD1, MTHFR, MTR, MTRR - -
05218 Ollier enchondromatosis, multiple, Ollier type 166000 - 6 - PTH1R bones (skeleton) intraosseous benign cartilaginous tumors (enchondroma) develop close to growth plate cartilage; enchondromas are common benign cartilage tumors of bone
01279 PFE tooth eruption, failure, primary (PFE) 125350 AD 26 - PTH1R - -
01384 PRTH Thyroid hormone resistance, selective pituitary 145650 AD - - THRB - -
06686 SCAR28 Spinocerebellar ataxia, autosomal recessive 28 618800 AR - - THG1L - -
00212 SCZD schizophrenia (SCZD) 181500 AD 82 72 AKT1, APOL2, APOL4, CHI3L1, COMT, DAO, DAOA, DISC1, DISC2, DRD3, DTNBP1, HTR2A, MTHFR, RTN4R - -
02549 Segawa Segawa syndrome 605407 AR 3 2 TH - -
05773 THC thrombocytopenia (THC) - - 14 14 ANKRD26, THPO - -
07021 THC9 thrombocytopenia, type 9 620478 AD - - THPO - -
01578 THCYT1 thrombocythemia, type 1 187950 - 2 2 CALR, SH2B3, THPO - autosomal dominant
01581 THPH1 thrombophilia,due to thrombin defect (THPH1) 188050 AD 4 4 F13A1, F2, HABP2, MTHFR - -
03662 THPH12 Thrombophilia due to thrombomodulin defect 614486 - - - THBD - -
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