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Metadata
ID DOID:0080677
Name otospondylomegaepiphyseal dysplasia, autosomal dominant
Definition An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene.
https://pubmed.ncbi.nlm.nih.gov/15372529/
Xrefs

OMIM:184840

Parent Relationships

is_a osteochondrodysplasia

is_a autosomal dominant disease

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