All diseases

19 entries on 1 page. Showing entries 1 - 19.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
02064 - Schizencephaly 269160 - - - EMX2, SHH, SIX3 - -
03360 AIS6 autoimmune disease, susceptibility to, type 6 (AIS-6) 613551 - 1 - SIAE - -
03617 ALS16 sclerosis, lateral, amyotrophic, type 16, juvenile (ALS16) 614373 AR - - SIGMAR1 - -
00655 BOR1 branchiootorenal syndrome, with/without cataract, type 1 (BOR-1) 113650 AD 1 1 EYA1, SIX1 - -
01023 BOR2 branchiootorenal syndrome, type 2 (BOR-2) 610896 - - - SIX5 - -
00989 BOS3 branchiootic syndrome, type 3 608389 AD - - SIX1 - -
01755 CSID sucrase-isomaltase deficiency, congenital (CSID) 222900 AR 1 1 SI - -
06411 CTRCT45 ?Cataract 45 616851 AR - - SIPA1L3 - -
00990 DFNA23 deafness, autosomal dominant, type 23 (DFNA-23) 605192 AD - - SIX1 - -
04660 EIEE30 encephalopathy, epileptic, early infantile, type 30 (EIEE-30) 616341 AD 2 2 SIK1 - -
00438 HPE holoprosencephaly (HPE) 236100 - 15 14 GLI2, SHH, SIX3, TGIF1, ZIC2 - -
01439 HPE2 holoprosencephaly, type 2 (HPE-2) 157170 AD - - SIX3 - -
00139 ID intellectual disability (ID) - - 2793 2474 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 556 more - -
00907 MSS Marinesco-Sjogren syndrome (MSS) 248800 AR 2 2 SIL1 - -
01696 ODRMD optic disc anomalies with retinal and/or macular dystrophy (ODRMD) 212550 AR 1 1 SIX6 - -
06128 SEMDK ?Spondyloepimetaphyseal dysplasia, Krakow type 618162 AR - - SIK3 - -
03050 SHEP9 pigmentation, skin/hair/eye, variation in, type 9 (SHEP-9) 611742 - - - ASIP - -
05563 SPGF34 spermatogenic failure, type 34 (SPGF-34) 618153 AR - - FSIP2 - autosomal recessive
05850 WITKOS Witteveen-Kolk syndrome (WITKOS), 15q24 del/dup syndrome 613406 AD 44 44 SIN3A - -
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