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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.



show annotations for term's descendants           Sort by:
 
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 term: Myopia, high, with cataract and vitreoretinal degeneration OMIM
ClinVar
PMID:21885030 PMID:24172257 PMID:25469533 PMID:25741868 PMID:28492532 NCBI chr11:74,634,267...74,775,422
Ensembl chr11:74,634,267...74,775,421
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    sensory system disease 6469
      eye disease 3172
        eye degenerative disease 527
          retinal degeneration 525
            High Myopia with Cataract and Vitreoretinal Degeneration 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        sensory system disease 6469
          eye disease 3172
            refractive error 212
              myopia 177
                High Myopia 79
                  High Myopia with Cataract and Vitreoretinal Degeneration 1
paths to the root