OBO ID: DOID:0070304
Term Name: multiple epiphyseal dysplasia 3 Search Ontology:
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 multiple epiphyseal dysplasia 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL9A3 Epiphyseal dysplasia, multiple, 3, with or without myopathy 600969
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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