Link to this page
Human Disease Ontology
Last uploaded:
February 5, 2025
Jump to:
| Id | http://purl.obolibrary.org/obo/DOID_0050660
http://purl.obolibrary.org/obo/DOID_0050660
|
|---|---|
| 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].
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
|---|---|
| label |
Beare-Stevenson cutis gyrata syndrome
|
| comment |
OMIM mapping confirmed by DO. [SN].
|
| prefLabel |
Beare-Stevenson cutis gyrata syndrome
|
| database_cross_reference |
GARD:332
MIM:123790
|
| notation |
DOID:0050660
|
| in_subset | |
| id |
DOID:0050660
|
| has material basis in | |
| has_obo_namespace |
disease_ontology
|
| subClassOf | |
| type |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |