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DOID:0111931 - syndactyly-telecanthus-anogenital and renal malformations syndrome
Disease Ontology Definition:A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has_material_basis_in heterozygous mutation in the FAM58A gene on chromosome Xq28.
Synonyms: STAR syndrome, syndactyly with renal and anogenital malformations, toe syndactyly, telecanthus, and anogenital and renal malformations,
Xenbase Genes
:
ccnq
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)