frontometaphyseal dysplasia 1 Disease Ontology Browser

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Disease Ontology Browser

frontometaphyseal dysplasia 1 (DOID:0111786)
Alliance: disease page
Synonyms: FMD1
Alt IDs: OMIM:305620
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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