Term Name: multiple epiphyseal dysplasia due to collagen 9 anomaly
Synonyms:
Definition: A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3).
Ontology: Human Disease [DOID:0070305]   ( DOID:0070305 )

Relationships
is a type of: monogenic disease multiple epiphyseal dysplasia
has subtype: multiple epiphyseal dysplasia 2 multiple epiphyseal dysplasia 3 multiple epiphyseal dysplasia 6