Search Ontology:
Human Disease

camptodactyly-tall stature-scoliosis-hearing loss syndrome

Term ID
DOID:0111160
Synonyms
  • CATSHL syndrome
Definition
A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16. (2)
References
Ontology
Human Disease   ( DOID:0111160 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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