All diseases

32 entries on 1 page. Showing entries 1 - 32.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01673 - atransferrinemia 209300 AR 3 3 TF - -
04230 ACHM achromatopsia (ACHM) - - 105 104 ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H - -
04366 ACHM7 achromatopsia, type 7 (ACHM-7) 616517 AR - - ATF6 - -
04567 BBS17 Bardet-Biedl syndrome, type 17 (BBS-17) 615994 AR 1 1 LZTFL1 - -
00441 BOFS branchiooculofacial syndrome (BOFS) 113620 AD 8 8 TFAP2A - -
00619 CHAR Char syndrome 169100 AD - - TFAP2B - -
03653 CMM8 melanoma, cutaneous, malignant, susceptibility to, type 8 (CMM8) 614456 - - - MITF - -
05224 COMMAD COMMAD syndrome (coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness) 617306 AR 2 2 MITF - -
06345 CONDBA Neurodegeneration, childhood-onset, with brain atrophy 617672 AD - - UBTF - -
01151 COXPD15 combined oxidative phosphorylation deficiency, type 15 (COXPD-15) 614947 AR - - MTFMT - -
03102 EMC Chondrosarcoma, extraskeletal myxoid 612237 - - - NR4A3, TAF15, TFG - -
03254 GLC1O glaucoma, open angle, type 1O (GLC-1O) 613100 - - - NTF4 - -
00534 HFE3 hemochromatosis, type 3 (HFE-3) 604250 AR 14 14 TFR2 - -
02513 HMSNO neuropathy, motor and sensory, hereditary, Okinawa type 604484 AD - - TFG - -
00139 ID intellectual disability (ID) - - 2714 2396 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 555 more - -
05292 IMD immunodeficiency (IMD) - - 154 150 ATP6AP1, GTF3A, IL7R, LAT, PTPRC - -
06555 IMD46 Immunodeficiency 46 616740 AR - - TFRC - -
01816 MADD acyl-CoA dehydrogenation deficiency, multiple (MADD) 231680 AR 20 18 ETFA, ETFB, ETFDH - autosomal recessive
06275 MC1DN27 Mi complex I deficiency, nuclear type 27 618248 AR - - MTFMT - -
06976 MRXSPF intellectual developmental disorder, X-linked syndromic, with pigmentary mosaicism and coarse facies 301066 XL - - TFE3 - -
06079 MTDPS15 ?Mi DNA depletion syndrome 15 (hepatocerebral type) 617156 AR 1 - TFAM - -
06349 NEDDFL Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 617755 AD - - BPTF - -
00258 PACA agenesis, pancreatic and cerebellar (PACA) 609069 AR 13 13 PTF1A - -
04138 PAGEN2 agenesis, pancreatic, type 2 (PAGEN-2) 615935 AR - - PTF1A - -
06695 PDA2 Patent ductus arteriosus 2 617035 AD - - TFAP2B - -
02192 RCCX1 carcinoma, renal cell, Xp11-associated (RCCX1) 300854 - - - TFE3 - -
04043 SPG57 paraplegia, spastic, type 57, autosomal recessive (SPG-57) 615658 AR 7 7 TFG - -
01166 TADS Tietz albinism-deafness syndrome (TADS) 103500 AD - - MITF - -
00748 TTD trichothiodystrophy (TTD) - - 19 19 ERCC2, ERCC3, GTF2H5, MPLKIP - -
04325 TTD3 trichothiodystrophy, type 3, photosentitive (TTD-3) 616395 - - - GTF2H5 - -
06781 TTD6 Trichothiodystrophy 6, nonphotosensitive 616943 AR - - GTF2E2 - -
01605 WS2A Waardenburg syndrome, type 2A (WS2A) 193510 AD 8 6 MITF - -
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