| Metadata | |
|---|---|
| ID | DOID:0111160 |
| Name | camptodactyly-tall stature-scoliosis-hearing loss 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. https://rarediseases.info.nih.gov/diseases/10012/camptodactyly-tall-stature-and-hearing-loss-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/17033969 |
| Xrefs |
SNOMEDCT_US_2023_03_01:720601000 |
| Subsets |
DO_rare_slim |
| Synonyms |
CATSHL syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |