Beare-Stevenson Cutis Gyrata Syndrome
Disease ID: disease_node_20166
Connections displayed (default: 10).
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| Dbxref | GARD:332, MIM:123790 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID |
| Doid Label | Beare-Stevenson cutis gyrata syndrome |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20166 |
| Doid Id | DOID_0050660 |
| Label | Beare-Stevenson Cutis Gyrata Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)