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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:multiple epiphyseal dysplasia with myopia and deafness
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Accession:DOID:0111348 term browser browse the term
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. (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
 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, with myopia and conductive deafness OMIM
ClinVar
PMID:7752132, PMID:8325895, PMID:9101290, PMID:9800905, PMID:22496037, PMID:25741868, PMID:27390512, PMID:28018693, PMID:28492532, PMID:28983407 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      multiple epiphyseal dysplasia with myopia and deafness 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          Otorhinolaryngologic Diseases 1202
            auditory system disease 767
              Hearing Disorders 623
                Hearing Loss 618
                  Conductive Hearing Loss 12
                    multiple epiphyseal dysplasia with myopia and deafness 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.