Term Name: | frontometaphyseal dysplasia 2 |
---|---|
Synonyms: | FMD2 |
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. |
Ontology: | Human Disease [DOID:0111787] ( DOID:0111787 ) |