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OBO ID: DOID:0111348
Term Name: multiple epiphyseal dysplasia with myopia and deafness Search Ontology:
Synonyms:
  • EDMMD
  • multiple epiphyseal dysplasia, Beighton type
  • multiple epiphyseal dysplasia-myopia-deafness syndrome
Definition: A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11. (2)
References:
Ontology: Human Disease   (DOID:0111348)
OTHER multiple epiphyseal dysplasia with myopia and deafness PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL2A1 ?Epiphyseal dysplasia, multiple, with myopia and deafness 132450
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None