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Beare-Stevenson cutis gyrata syndrome

http://purl.obolibrary.org/obo/DOID_0050660

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. [ http://purl.obolibrary.org/obo/ECO_0007637 ]

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Term info

Label

Beare-Stevenson cutis gyrata syndrome

database cross reference

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

DOID:0050660

Term relations

Subclass of:

autosomal dominant disease
syndrome
has material basis in some autosomal dominant inheritance