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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/C536436
http://purl.bioontology.org/ontology/MESH/C536436
|
|---|---|
| Preferred Name | Coffin-Siris syndrome |
| Synonyms |
Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
Fifth digit syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
Fifth digit syndrome
|
|---|---|
| prefLabel | Coffin-Siris syndrome
|
| Scope Statement | A hereditary autosomal recessive neurodevelopmental syndrome with broad phenotypic and genetic variability. Affected individuals generally have intellectual disability, coarse facial features, HYPERTRICHOSIS, and hypoplastic or absent fifth fingernails or toenails. Other abnormalities include PTOSIS; CHOANAL ATRESIA, cardiac defects, and genital anomalies. Mutations in components of the SWI/SNF CHROMATIN REMODELING complex have been identified. OMIM: 135900
|
| type | |
| tui | T047
|
| Has mapping qualifier | |
| HM |
D009333/Q000002
D008844
D000015
D006228
D008607
D005145/Q000002
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|
| SC | 3
|
| TERMUI |
T745669
T739332
T739331
|
| TH |
OMIM (2013)
ORD (2010)
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| MMR | 20200228
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| notation | C536436
|
| Semantic type UMLS property | |
| cui | C0265338
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| MeSH Frequency | 118
|
| DSC | 20100825
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| Inverse of RB | 0
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| Mapped to |
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|
| MDA | 20100825
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| Delete | Subject | Author | Type | Created |
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| No notes to display |