Term Name: multiple epiphyseal dysplasia 3
Synonyms: EDM3, multiple epiphyseal dysplasia 3 with or without myopathy
Definition: A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13.
Ontology: Human Disease [DOID:0070304]   ( DOID:0070304 )

Relationships
is a type of: autosomal dominant disease multiple epiphyseal dysplasia due to collagen 9 anomaly