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Metadata
ID DOID:0070305
Name multiple epiphyseal dysplasia due to collagen 9 anomaly
Definition A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3).
https://www.ncbi.nlm.nih.gov/pubmed/10090888, https://www.ncbi.nlm.nih.gov/pubmed/11891674
Xrefs

ORDO:166002

Subsets

DO_rare_slim

Parent Relationships

is_a multiple epiphyseal dysplasia

is_a monogenic disease

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