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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



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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:21885030 PMID:24172257 PMID:25469533 PMID:25741868 PMID:28492532 More... 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 21140
    sensory system disease 6891
      eye disease 3449
        lens disease 455
          cataract 445
            High Myopia with Cataract and Vitreoretinal Degeneration 1
Path 2
Term Annotations click to browse term
  disease 21140
    Pathological Conditions, Signs and Symptoms 13285
      Signs and Symptoms 10764
        Neurologic Manifestations 9994
          sensory system disease 6891
            eye disease 3449
              refractive error 224
                myopia 181
                  High Myopia 79
                    High Myopia with Cataract and Vitreoretinal Degeneration 1
paths to the root