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
Ontology
Human Disease   ( DOID:1925 )
Relationships
is a type of
has subtype
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Genes Involved
Zebrafish Models