Search Ontology:
Human Disease
Coffin-Siris syndrome
- Term ID
- DOID:1925
- Synonyms
-
- 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
-
- GARD:6124
- MESH:C536436
- MIM:PS135900
- Ontology
- Human Disease ( DOID:1925 )
- is a type of
-
- has subtype
Other Pages
Genes Involved
No data available
Zebrafish Models
Fish | Conditions | Disease | Citation |
---|---|---|---|
sox11aihb607/ihb607 (AB) | standard conditions | Coffin-Siris syndrome | Jia et al., 2020 |
1 - 1 of 1
Show