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Metadata
ID DOID:0070298
Name multiple epiphyseal dysplasia 2
Definition A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34.
https://www.ncbi.nlm.nih.gov/pubmed/8528240
Xrefs

MIM:600204

Synonyms

EDM2 [EXACT]

Parent Relationships

is_a multiple epiphyseal dysplasia due to collagen 9 anomaly

is_a autosomal dominant disease

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