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Summary Literature (0)
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


MIM:
MIM:305620 - FRONTOMETAPHYSEAL DYSPLASIA 1; FMD1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): frontometaphyseal dysplasia (is_a), X-linked recessive disease (is_a)