Search Ontology:
Human Disease

multiple epiphyseal dysplasia 6

Term ID
DOID:0070301
Synonyms
  • EDM6
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
References
Ontology
Human Disease   ( DOID:0070301 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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