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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: 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 LOC123464484 Sharpr-MPRA regulatory region 10063 IAGP ClinVar Annotator: match by term: P3H2-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:190,120,664...190,121,134 JBrowse link
G LOC129938149 ATAC-STARR-seq lymphoblastoid silent region 14999 IAGP ClinVar Annotator: match by term: Myopia, high, with cataract and vitreoretinal degeneration
ClinVar Annotator: match by term: P3H2-related condition		 ClinVar PMID:24172257 PMID:25469533 PMID:25741868 PMID:28492532
G P3H2 prolyl 3-hydroxylase 2 IAGP
EXP		 ClinVar Annotator: match by term: Myopia, high, with cataract and vitreoretinal degeneration
ClinVar Annotator: match by term: Myopia, high, with cataract and vitreoretinal degeneration | ClinVar Annotator: match by term: P3H2-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:21885030 PMID:24172257 PMID:25469533 PMID:25741868 PMID:28492532 More... NCBI chr 3:189,956,728...190,122,278
Ensembl chr 3:189,956,728...190,122,437 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    sensory system disease 9730
      eye disease 4942
        lens disease 594
          cataract 573
            High Myopia with Cataract and Vitreoretinal Degeneration 3
Path 2
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Signs and Symptoms 16320
        Neurologic Manifestations 15387
          sensory system disease 9730
            eye disease 4942
              refractive error 269
                myopia 214
                  High Myopia 87
                    High Myopia with Cataract and Vitreoretinal Degeneration 3
paths to the root