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BioAssay Ontology
Last uploaded:
January 17, 2025
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| Id | http://purl.obolibrary.org/obo/DOID_0050660
http://purl.obolibrary.org/obo/DOID_0050660
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|---|---|
| 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].
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
Beare-Stevenson cutis gyrata syndrome
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|---|---|
| comment |
OMIM mapping confirmed by DO. [SN].
|
| prefLabel |
Beare-Stevenson cutis gyrata syndrome
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| has cross-reference |
OMIM:123790
GARD:332
|
| notation |
DOID:0050660
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| id |
DOID:0050660
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| has_obo_namespace |
disease_ontology
|
| textual 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.
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| subClassOf | |
| imported from | |
| type |
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