frontometaphyseal dysplasia 2 Disease Ontology Browser

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Disease Ontology Browser

frontometaphyseal dysplasia 2 (DOID:0111787)
Alliance: disease page
Synonyms: FMD2
Alt IDs: OMIM:617137
Definition: A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that has_material_basis_in heterozygous mutation in MAP3K7 on chromosome 6q15.

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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