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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:0007412 - Beare-Stevenson cutis gyrata syndrome |
Other Model Organisms: Alliance, 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)