| Metadata | |
|---|---|
| ID | DOID:0111161 |
| Name | Crouzon syndrome-acanthosis nigricans syndrome |
| Definition | A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16. https://ghr.nlm.nih.gov/condition/crouzon-syndrome-with-acanthosis-nigricans, https://www.ncbi.nlm.nih.gov/pubmed/2650599, https://www.ncbi.nlm.nih.gov/pubmed/7493034 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CAN [EXACT] Crouzon-dermoskeletal syndrome [EXACT] Crouzonodermoskeletal syndrome [EXACT] |
| Parent Relationships |
is_a syndrome is_a bone disease |