Human genes for frontometaphyseal dysplasia 2
Frontometaphyseal dysplasia 2 [DOID:0111787]
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.
Synonyms: frontometaphyseal dysplasia 2, DOID:0111787, FMD2