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Human Disease

otospondylomegaepiphyseal dysplasia, autosomal dominant

Term ID
DOID:0080677
Synonyms
Definition
An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene. https://pubmed.ncbi.nlm.nih.gov/15372529/
References
Ontology
Human Disease   ( DOID:0080677 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models