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DOID:0111786 - frontometaphyseal dysplasia 1
Disease Ontology Definition:A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28.
Synonyms: FMD1,
Xenbase Genes : flna
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
frontometaphyseal dysplasia (is_a)