DISEASES

Disease-gene associations mined from literature

Human genes for multiple epiphyseal dysplasia 2

Multiple epiphyseal dysplasia 2 [DOID:0070298]

A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34.

Synonyms:  multiple epiphyseal dysplasia 2,  DOID:0070298,  EDM2