| Metadata | |
|---|---|
| ID | DOID:0050660 |
| Name | Beare-Stevenson cutis gyrata syndrome |
| Definition | A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. https://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |