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OBO ID: DOID:0070298
Term Name: multiple epiphyseal dysplasia 2 Search Ontology:
Synonyms:
  • EDM2
Definition: A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34. https://www.ncbi.nlm.nih.gov/pubmed/8528240
References:
Ontology: Human Disease   (DOID:0070298)
Relationships
is a type of:
OTHER multiple epiphyseal dysplasia 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL9A2 Epiphyseal dysplasia, multiple, 2 600204
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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