Search Ontology:
Human Disease
Coffin-Siris syndrome
- Term ID
- DOID:1925
- Synonyms
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- Dwarfism-Onychodysplasia
- Fifth Digit Syndrome
- Short Stature-Onychodysplasia.
- 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. (3)
- References
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- GARD:6124
- MESH:C536436
- MIM:PS135900
- NCI:C35321
- ORDO:1465
- SNOMEDCT_US_2023_03_01:10007009
- UMLS_CUI:C0265338
- Ontology
- Human Disease ( DOID:1925 )
- is a type of
-
- has subtype
Other Pages
Genes Involved
Zebrafish Models