All diseases

4 entries on 1 page. Showing entries 1 - 4.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
04281 CDLS Cornelia de Lange syndrome (CDLS) - - 525 499 HDAC8, NIPBL, SMC1A, SMC3 - -
01065 CDLS2 Cornelia de Lange syndrome, type 2 (CDLS-2) 300590 XLD 2 2 SMC1A - cognitive delay; growth retardation; neuropsychiatric behaviors; microcephaly; craniofacial dysmorphia; cleft/arched palate; syndactyly; organ abnormalities; cardiac defects; limb reductions; hearing loss; no skin pigmentation abnormalities; no elevated cancer incidence; no bone marrow/hematopoietic defects
06871 EIEE85 Epileptic encephalopathy, early infantile, 85, with or without midline brain defects 301044 - - - SMC1A - -
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 - -
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