OBO ID: DOID:0070301
Term Name: multiple epiphyseal dysplasia 6 Search Ontology:
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 multiple epiphyseal dysplasia 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL9A1 ?Epiphyseal dysplasia, multiple, 6 614135
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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