Coffin-Siris syndrome 3
autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of SMARCB1 on chromosome 22q11.23
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Coffin-Siris syndrome 3
Summary
Coffin-Siris syndrome 3 is a rare disease[1].
Key Facts
- Coffin-Siris syndrome 3's instance of is recorded as rare disease[2].
- Coffin-Siris syndrome 3's instance of is recorded as class of disease[3].
- Coffin-Siris syndrome 3's subclass of is recorded as Coffin-Siris syndrome[4].
- Coffin-Siris syndrome 3's OMIM ID is recorded as 614608[5].
- Coffin-Siris syndrome 3's Disease Ontology ID is recorded as DOID:0070045[6].
- Coffin-Siris syndrome 3's genetic association is recorded as SMARCB1[7].
- Coffin-Siris syndrome 3's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0070045[8].
- Coffin-Siris syndrome 3's exact match is recorded as http://identifiers.org/doid/DOID:0070045[9].
- Coffin-Siris syndrome 3's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1465[10].
- Coffin-Siris syndrome 3's UMLS CUI is recorded as C3553248[11].
- Coffin-Siris syndrome 3's on focus list of Wikimedia project is recorded as WikiProject Medicine[12].
- Coffin-Siris syndrome 3's Mondo ID is recorded as MONDO_0013820[13].
- Coffin-Siris syndrome 3's UniProt disease ID is recorded as DI-03454[14].