Search Ontology:
Human Disease

multiple epiphyseal dysplasia 5

Term ID
DOID:0070299
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
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