Search Ontology:
Human Disease

multiple epiphyseal dysplasia 3

Term ID
DOID:0070304
Synonyms
  • EDM3
  • multiple epiphyseal dysplasia 3 with or without myopathy
Definition
A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13. https://www.ncbi.nlm.nih.gov/pubmed/10090888
References
Ontology
Human Disease   ( DOID:0070304 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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