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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:High Myopia with Cataract and Vitreoretinal Degeneration
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Accession:DOID:9005145 term browser browse the term
Synonyms:exact_synonym: MCVD
 primary_id: OMIM:614292
For additional species annotation, visit the Alliance of Genome Resources.


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High Myopia with Cataract and Vitreoretinal Degeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P3h2 prolyl 3-hydroxylase 2 ISO ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by OMIM:614292
ClinVar Annotator: match by term: Myopia, high, with cataract and vitreoretinal degeneration
OMIM
ClinVar
PMID:21885030 PMID:24172257 PMID:25469533 PMID:25741868 NCBI chr11:78,028,885...78,169,746
Ensembl chr11:78,029,038...78,169,648
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    sensory system disease 5232
      eye disease 2665
        eye degenerative disease 470
          retinal degeneration 468
            High Myopia with Cataract and Vitreoretinal Degeneration 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        sensory system disease 5232
          eye disease 2665
            refractive error 231
              myopia 149
                High Myopia 81
                  High Myopia with Cataract and Vitreoretinal Degeneration 1
paths to the root