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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
camptodactyly-tall stature-scoliosis-hearing loss syndrome
Summary
- Synonym
-
- 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.
- Super Class
- autosomal genetic disease syndrome
External Links
- Disease Ontology
- DOID:0111160
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- WikiPathways (from TogoID)
Related Genes
