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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;   P3H2-RELATED CONDITION
 primary_id: MIM:614292


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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 term: Myopia, high, with cataract and vitreoretinal degeneration | ClinVar Annotator: match by term: P3H2-related condition OMIM
ClinVar		 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 19087
    sensory system disease 7249
      eye disease 3725
        lens disease 520
          cataract 510
            High Myopia with Cataract and Vitreoretinal Degeneration 1
Path 2
Term Annotations click to browse term
  disease 19087
    Pathological Conditions, Signs and Symptoms 13530
      Signs and Symptoms 11085
        Neurologic Manifestations 10336
          sensory system disease 7249
            eye disease 3725
              refractive error 235
                myopia 182
                  High Myopia 79
                    High Myopia with Cataract and Vitreoretinal Degeneration 1
paths to the root