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| General Information | |||
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| Term | Coffin-Siris syndrome | ID (Ontology) | DOID:1925 (Human Disease) |
| Definition | An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. | ||
| Also Known As | "Dwarfism-Onychodysplasia" ; "Fifth Digit Syndrome" ; "Short Stature-Onychodysplasia." | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal dominant disease |__autosomal dominant intellectual developmental disorder__ intellectual disability | |__autosomal dominant intellectual developmental disorder__| disease | |__syndrome________________________________________________| Coffin-Siris syndrome 32 rec. |__Coffin-Siris syndrome 1 3 rec. |__Coffin-Siris syndrome 2 3 rec. |__Coffin-Siris syndrome 3 3 rec. |__Coffin-Siris syndrome 4 2 rec. |__Coffin-Siris syndrome 5 1 rec. |__Coffin-Siris syndrome 6 1 rec. |__Coffin-Siris syndrome 7 2 rec. |__Coffin-Siris syndrome 8 2 rec. |__Coffin-Siris syndrome 9 1 rec. |__Coffin-Siris syndrome 10 1 rec. |__Coffin-Siris syndrome 11 2 rec. |__Coffin-Siris syndrome 12 2 rec. |
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| Is a |
autosomal dominant intellectual developmental disorder syndrome |
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External Crossreferences & Linkouts
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GARD:6124 MESH:C536436 MIM:PS135900 NCI:C35321 ORDO:1465 SNOMEDCT_US_2023_03_01:10007009 UMLS_CUI:C0265338 |
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