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