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Multiple Epiphyseal Dysplasia 2

Disease ID: disease_node_15639

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DbxrefMIM:600204
SubclassofDOID_0050736, DOID_0070305
Data SourceDOID
SynonymsEDM2
Doid Labelmultiple epiphyseal dysplasia 2
Doid DescriptionA multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_15639
Doid IdDOID_0070298
LabelMultiple Epiphyseal Dysplasia 2