OBO ID: DOID:0070299
Term Name: multiple epiphyseal dysplasia 5 Search Ontology:
Synonyms:
  • BHMED
  • bilateral hereditary microepiphyseal dysplasia
  • EDM5
  • multiple epiphyseal dysplasia MATN3-related
Definition: A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24. https://www.ncbi.nlm.nih.gov/pubmed/11479597
References:
Ontology: Human Disease   ( DOID:0070299 )
Relationships
is a type of:
OTHER multiple epiphyseal dysplasia 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MATN3 Epiphyseal dysplasia, multiple, 5 607078
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)
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