Coffin-Siris syndrome 4
autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of SMARCA4 on chromosome 19p13.2
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Coffin-Siris syndrome 4
Summary
Coffin-Siris syndrome 4 is a rare disease[1].
Key Facts
- Coffin-Siris syndrome 4's instance of is recorded as rare disease[2].
- Coffin-Siris syndrome 4's instance of is recorded as class of disease[3].
- Coffin-Siris syndrome 4's subclass of is recorded as Coffin-Siris syndrome[4].
- Coffin-Siris syndrome 4's OMIM ID is recorded as 614609[5].
- Coffin-Siris syndrome 4's Disease Ontology ID is recorded as DOID:0070046[6].
- Coffin-Siris syndrome 4's genetic association is recorded as SMARCA4[7].
- Coffin-Siris syndrome 4's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0070046[8].
- Coffin-Siris syndrome 4's exact match is recorded as http://identifiers.org/doid/DOID:0070046[9].
- Coffin-Siris syndrome 4's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1465[10].
- Coffin-Siris syndrome 4's UMLS CUI is recorded as C3553249[11].
- Coffin-Siris syndrome 4's on focus list of Wikimedia project is recorded as WikiProject Medicine[12].
- Coffin-Siris syndrome 4's Mondo ID is recorded as MONDO_0013821[13].
- Coffin-Siris syndrome 4's UniProt disease ID is recorded as DI-03455[14].