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ONTOLOGY REPORT - ANNOTATIONS


Term:multiple epiphyseal dysplasia with myopia and deafness
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Accession:DOID:0111348 term browser browse the term
Definition:An autosomal dominant disease 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. (DO)
Synonyms:exact_synonym: EDMMD;   multiple epiphyseal dysplasia with myopia and conductive deafness;   multiple epiphyseal dysplasia, Beighton type;   multiple epiphyseal dysplasia-myopia-deafness syndrome
 primary_id: MESH:C565046
 alt_id: OMIM:132450;   RDO:0013795
 xref: ORDO:166011
For additional species annotation, visit the Alliance of Genome Resources.


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multiple epiphyseal dysplasia with myopia and deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15625
    Developmental Diseases 8759
      bone development disease 996
        osteochondrodysplasia 410
          multiple epiphyseal dysplasia 10
            multiple epiphyseal dysplasia with myopia and deafness 1
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        sensory system disease 4684
          Otorhinolaryngologic Diseases 1074
            auditory system disease 683
              Hearing Disorders 567
                Hearing Loss 563
                  Conductive Hearing Loss 11
                    multiple epiphyseal dysplasia with myopia and deafness 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.