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 )

Relationships
is a type of: autosomal dominant disease frontometaphyseal dysplasia