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Metadata
ID DOID:0070301
Name multiple epiphyseal dysplasia 6
Definition A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13.
https://www.ncbi.nlm.nih.gov/pubmed/11565064
Xrefs

OMIM:614135

Synonyms

EDM6 [EXACT]

Parent Relationships

is_a multiple epiphyseal dysplasia

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