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Metadata
ID DOID:0070304
Name multiple epiphyseal dysplasia 3
Definition A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13.
https://www.ncbi.nlm.nih.gov/pubmed/10090888
Xrefs

OMIM:600969

Synonyms

EDM3 [EXACT]

multiple epiphyseal dysplasia 3 with or without myopathy [EXACT]

Parent Relationships

is_a multiple epiphyseal dysplasia

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