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Summary Literature (0)
DOID:0050660 - Beare-Stevenson cutis gyrata syndrome


Disease Ontology 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.

Synonyms:

Xenbase Genes : fgfr2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007412 - Beare-Stevenson cutis gyrata syndrome


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), syndrome (is_a)