All diseases

62 entries on 1 page. Showing entries 1 - 62.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00600 - nevus, epidermal 162900 - 1 1 FGFR3, HRAS, NRAS, PIK3CA - -
02450 - hyperthyroidism, familial gestational 603373 - - - TSHR - -
02827 - Hyperthyroidism, nonautoimmune 609152 AD - - TSHR - -
03730 - CFHR5 deficiency 614809 AD - - CFHR5 - -
01838 AHUS1 hemolytic-uremic syndrome, atypical, type 1 (AHUS1) 235400 AD;AR - - CFH, CFHR1, CFHR3 - -
01640 ALUNC alopecia universalis 203655 AR - - HR - -
01674 APL atrichia with papular lesions 209500 AR - - HR - -
00395 ARMD1 macular degeneration, age-related, type 1 (ARMD-1) 603075 AD - - APOE, CFHR1, CFHR3, HMCN1, PLEKHA1 - -
06255 BAIPRCK Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT 191800 AR - - CHRNA3 - -
03591 Barrett esophagus Barrett esophagus / esophageal adenocarcinoma 614266 - 4 4 ASCC1, CTHRC1, MSR1 - -
05342 CAKUT kidney and urinary tract, anomalies, congenital (CAKUT) - - 212 212 CHRNA3, DSTYK, FOXD2, SLIT3, TBX18 - -
00315 cancer, bladder cancer, bladder 109800 - 63 63 FGFR3, HRAS, KRAS, RB1 - -
05461 CDG glycosylation, congenital disorder of (CDG) - - 86 82 CAMLG, DHRSX, EDEM3, MAN2C1, MOGS, NUS1, SLC39A8, STT3A, STT3B, UGGT1 - -
07130 CDG1DD glycosylation, congenital disorder of, type 1DD 301133 - - - DHRSX - -
02104 CHNG1 hypothyroidism, congenital, nongoitrous, type 1 (CHNG1) 275200 AR - - TSHR - -
03651 CHNG6 hypothyroidism, congenital, nongoitrous, type 6 (CHNG6) 614450 AD - - THRA - -
05906 CHNG7 hypothyroidism, congenital, nongoitrous, type 7 (CHNG7) 618573 AR - - TRHR - -
04412 CHRNA7 schizophrenia, neurophysiologic defect in (CHRNA-7) 118511 - - - CHRNA7 - -
01343 CMNS nevus syndrome, melanocytic, congenital, somatic 137550 - - - HRAS, NRAS - -
00570 CMS1A myasthenic syndrome, congenital, type 1A, slow-channel (CMS-1A) 601462 AD 1 1 CHRNA1 - -
00571 CMS1B myasthenic syndrome, congenital, type 1B, fast-channel (CMS-1B) 608930 AD;AR - - CHRNA1 - -
04313 CMS2A myasthenic syndrome, congenital, type 2A, slow-channel (CMS-2A) 616313 AD 1 - CHRNB1 - -
04314 CMS2C myasthenic syndrome, congenital, type 2C, associated with acetylcholine receptor deficiency (CMS-2C) 616314 AR 1 1 CHRNB1 - -
04315 CMS3A myasthenic syndrome, congenital, type 3A, slow-channel (CMS-3A) 616321 AD - - CHRND - -
04316 CMS3B myasthenic syndrome, congenital, type 3B, fast-channel (CMS-3B) 616322 AR - - CHRND - -
04317 CMS3C myasthenic syndrome, congenital, type 3C, associated with acetylcholine receptor deficiency (CMS-3C) 616323 AR - - CHRND - -
04318 CMS4A myasthenic syndrome, congenital, type 4A, slow-channel (CMS-4A) 605809 AD;AR 2 2 CHRNE - -
04319 CMS4B myasthenic syndrome, congenital, type 4B, fast-channel (CMS-4B) 616324 AR - - CHRNE - -
01002 CMS4C myasthenic syndrome, congenital, type 4C, associated with acetylcholine receptor deficiency (CMS-4C) 608931 AR 11 - CHRNE - -
03382 CORD15 dystrophy, cone-rod, type 15 (CORD-15) 613660 AR - - CDHR1 - -
01725 CSTLO Costello syndrome (CSTLO, myopathy with excess of muscle spindles ) 218040 AD 5 5 HRAS - -
04411 ENFL1 epilepsy, frontal lobe, nocturnal, type 1 (ENFL-1) 600513 AD 1 1 CHRNA4 - -
02545 ENFL3 epilepsy, frontal lobe, nocturnal, type 3 (ENFL-3) 605375 - - - CHRNB2 - -
02931 ENFL4 epilepsy, frontal lobe, nocturnal, type 4 (ENFL-4) 610353 AD 1 1 CHRNA2 - -
00875 EVMPS pterygium syndrome, multiple, Escobar type (EVMPS) 265000 AR 21 21 CHRNG - -
00174 FH hypercholesterolemia, familial (FH) - AD 2962 2944 ABCA1, APOA2, EPHX2, GHR, ITIH4, LDLR, PPP1R17 - -
05708 FHCL1 hypercholesterolemia, familial, type 1 (FHCL1) 143890 AD 1 1 APOA2, EPHX2, GHR, LDLR - -
02489 GHIP hormomen, growth, insensitivity, partial (GHIP) 604271 AD - - GHR, GHSR - -
01584 GRTH Thyroid hormone resistance, generalized, autosomal dominant 188570 AD 1 - THRB - -
02095 GRTH Thyroid hormone resistance, generalized, autosomal recessive 274300 AR - - THRB - -
01388 HH7 hypogonadism, hypogonadotropic, type 7 (HH7) 146110 AR 4 4 FGFR1, FSHB, GNRH1, GNRHR, WDR11 - -
01393 HYPT4 hypotrichosis, type 4 ((HYPT-4) Marie Unna hereditary hypotrichosis) 146550 AD - - HR - -
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 - -
01008 IGHD1B growth hormone deficiency, isolated, type IB (IGHD-1B) 612781 - 21 - GH1, GHRHR - -
06761 IGHD4 Growth hormone deficiency, isolated, type IV 618157 AR - - GHRHR - -
02017 Laron Laron syndrome 262500 AR 46 46 GHR - -
00572 LMPS multiple pterygium syndrome, lethal type (LMPS ) 253290 AR 16 16 CHRNA1, CHRND, CHRNG - -
04410 MGC1 megalocornea, type 1, X-linked (MGC-1) 309300 XLR - - CHRDL1 - -
01586 nicotine addiction, nicotine, susceptibility to 188890 - 13 - CHRNA4, CYP2A6, GABBR2, SLC6A3 - -
00554 NMTC2 cancer, thyroid, nonmedullary, type 2 (NMTC-2, follicular) 188470 AD;SMu - - HRAS, MINPP1, NRAS, PTEN, SRGAP1 - -
00030 ODG1 dysgenesis, ovarian, type 1 233300 AR 16 15 FSHR - -
02737 OHSS ovarian hyperstimulation syndrome 608115 AD 1 1 FSHR - -
00868 PBS;EGBRS Prune belly syndrome (PBS, Eagle-Barrett syndrome) 100100 AR - - CHRM3 - -
02007 PMDS Mullerian duct syndrome. persistent, types I and II (PMDS) 261550 AR 1 1 AMH, AMHR2 - -
01384 PRTH Thyroid hormone resistance, selective pituitary 145650 AD - - THRB - -
05704 RP85 retinitis pigmentosa, type 85 (RP85) 618345 AR - - AHR - -
01067 SDSX Stocco dos Santos X-linked mental retardation syndrome (SDSX) 300434 XL 106 106 SHROOM4 - -
00684 SFM Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic 163200 - - - HRAS, KRAS, NRAS - -
05259 SQTL smoking, quantitative trait locus (SQTL) - - 2 2 CHRNA3 - -
03083 SQTL3 smoking, quantitative trait locus 3 (SQTL-3) 612052 - - - CHRNA3, CHRNA5 - -
03262 THPH11 Thrombophilia due to HRG deficiency 613116 AD - - HRG - -
02110 twinning twinning, dizygotic 276400 AR - - FSHR - -
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