All diseases

9 entries on 1 page. Showing entries 1 - 9.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
02574 ALS21;MPD2 sclerosis, lateral, amyotrophic, type 21 (ALS21, distal myopathy type 2 (MPD2)) 606070 AD - - MATR3 - autosomal dominant
01072 ATMDS thalassemia, alpha, myelodysplasia syndrome, somatic (ATMDS) 300448 - - - ATRX - -
01071 ATRX thalassemia, alpha/mental retardation syndrome (ATRX) 301040 XLD 3 3 ATRX - -
03767 CILD18 dyskinesia, ciliary, primary, 18 (CILD-18) 614874 AR - - HEATR2 - -
00583 FCTCS telangiectasia, cutaneous, and cancer syndrome, familial 614564 AD 1 1 ATR - -
00139 ID intellectual disability (ID) - - 2351 2050 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 543 more - -
01073 MRXHF1 mental retardation-hypotonic facies syndrome, X-linked 309580 XLR 1 1 ATRX - -
00126 SCKL1 Seckel syndrome (SCKL) 210600 AR 5 3 ATR, CENPJ, CEP152, CEP63, NIN, RBBP8 - -
05268 SCKL1 Seckel syndrome, type 1 (SCKL-1) - - 9 9 ATR - -
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