OBO ID: DOID:0080677
Term Name: otospondylomegaepiphyseal dysplasia, autosomal dominant Search Ontology:
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 )
OTHER otospondylomegaepiphyseal dysplasia, autosomal dominant PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL11A2 Otospondylomegaepiphyseal dysplasia, autosomal dominant 184840
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None