Term Name: multiple epiphyseal dysplasia 1
Synonyms: EDM1, MED1, multiple epiphyseal dysplasia COMP-related, polyepiphyseal dysplasia type 1
Definition: A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.
Ontology: Human Disease [DOID:0070303]   ( DOID:0070303 )

Relationships
is a type of: autosomal dominant disease multiple epiphyseal dysplasia