All diseases

8 entries on 1 page. Showing entries 1 - 8.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
06844 AUTSX4 {Autism, susceptibility to, X-linked 4} 300830 XLR 3 3 PTCHD1 - -
05213 BAMS arhinia, choanal atresia, microphthalmia, Bosma type (BAMS) 603457 AD 51 51 SMCHD1 eyes;nose -
00083 FSHD2 dystrophy, muscular, facioscapulohumeral, type 2 (FSHD-2) 158901 - 148 120 DUX4, LRIF1, SMCHD1 - -
04130 FTDALS2 dementia, frontotemporal, and/or amyotrophic lateral sclerosis, type 2 (FTDALS-2) 615911 AD - - CHCHD10 - -
00139 ID intellectual disability (ID) - - 2799 2480 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 556 more - -
04408 IMMD myopathy?, isolated mitochondrial, autosomal dominant(IMMD) 616209 AD - - CHCHD10 - -
06665 PILBOS Pilarowski-Bjornsson syndrome 617682 AD - - CHD1 - -
04409 SMAJ atrophy, muscular, spinal, Jokela type (SMAJ) 615048 AD - - CHCHD10 - -
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