OBO ID: DOID:1925
Term Name: Coffin-Siris syndrome Search Ontology:
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:
Ontology: Human Disease   (DOID:1925)
OTHER Coffin-Siris syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS
Fish Conditions Citations
sox11aihb607/ihb607 (AB) standard conditions Jia et al., 2020
PHENOTYPE No data available

CITATIONS (2)