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loading...| Preferred Name |
Beare-Stevenson cutis gyrata syndrome |
| Definitions |
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]. |
| ID |
http://purl.obolibrary.org/obo/DOID_0050660 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
GARD:332 OMIM:123790 |
| 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. |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0050660 |
| in_subset | |
| label |
Beare-Stevenson cutis gyrata syndrome |
| notation |
DOID:0050660 |
| prefLabel |
Beare-Stevenson cutis gyrata syndrome |
| subClassOf |