All diseases

7 entries on 1 page. Showing entries 1 - 7.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01274 ADCL1 cutis laxa, autosomal dominant, type 1 (ADCL-1) 123700 AD - - ELN - -
04645 ETL7 epilepsy, temporal lobe, familial, type 7 (ETL-7) 616436 AD 1 1 RELN - -
00139 ID intellectual disability (ID) - - 2749 2431 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 555 more - -
01978 LIS2 lissencephaly, type 2 (LIS-2) 257320 AR 1 1 RELN - -
01571 SVAS aortic stenosis, supravalvar (SVAS) 185500 AD 1 - ELN - -
00923 WBS Williams-Beuren syndrome (WBS) - - 1 1 ELN - -
01609 WBS Williams-Beuren syndrome 194050 AD - - ELN, MLXIPL - -
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