Search Ontology:
Human Disease
otospondylomegaepiphyseal dysplasia, autosomal dominant
- Term ID
- DOID:0080677
- Synonyms
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- 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 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models