Coffin-Siris syndrome 2
autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ARID1A on chromosome 1p36.11
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Coffin-Siris syndrome 2
Summary
Coffin-Siris syndrome 2 is a rare disease[1].
Key Facts
- Coffin-Siris syndrome 2's instance of is recorded as rare disease[2].
- Coffin-Siris syndrome 2's instance of is recorded as class of disease[3].
- Coffin-Siris syndrome 2's subclass of is recorded as Coffin-Siris syndrome[4].
- Coffin-Siris syndrome 2's OMIM ID is recorded as 614607[5].
- Coffin-Siris syndrome 2's Disease Ontology ID is recorded as DOID:0070044[6].
- Coffin-Siris syndrome 2's genetic association is recorded as ARID1A[7].
- Coffin-Siris syndrome 2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0070044[8].
- Coffin-Siris syndrome 2's exact match is recorded as http://identifiers.org/doid/DOID:0070044[9].
- Coffin-Siris syndrome 2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1465[10].
- Coffin-Siris syndrome 2's UMLS CUI is recorded as C3553247[11].
- Coffin-Siris syndrome 2's on focus list of Wikimedia project is recorded as WikiProject Medicine[12].
- Coffin-Siris syndrome 2's Mondo ID is recorded as MONDO_0013819[13].
- Coffin-Siris syndrome 2's UniProt disease ID is recorded as DI-03453[14].