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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 the COL2A1 gene 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


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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 | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia, Beighton type
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    syndrome 10725
      multiple epiphyseal dysplasia with myopia and deafness 1
Path 2
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      nervous system disease 14001
        Neurologic Manifestations 9982
          sensory system disease 6883
            Otorhinolaryngologic Diseases 1699
              auditory system disease 955
                Hearing Disorders 785
                  Hearing Loss 781
                    Conductive Hearing Loss 10
                      multiple epiphyseal dysplasia with myopia and deafness 1
paths to the root