Term Name: multiple epiphyseal dysplasia 2
Synonyms: EDM2
Definition: A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34.
Ontology: Human Disease [DOID:0070298]   ( DOID:0070298 )

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