Terminology Service for NFDI4Health
JSON

camptodactyly-tall stature-scoliosis-hearing loss syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_0111160

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. [ http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

camptodactyly-tall stature-scoliosis-hearing loss syndrome

Synonyms
  • CATSHL syndrome
database cross reference
Subsets

DO_rare_slim

has obo namespace

disease_ontology

id

DOID:0111160