Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 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 PMID:28492532 NCBI chr11:78,028,885...78,169,746
Ensembl chr11:78,029,038...78,169,648
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17147
    sensory system disease 5597
      eye disease 2727
        eye degenerative disease 507
          retinal degeneration 505
            High Myopia with Cataract and Vitreoretinal Degeneration 1
Path 2
Term Annotations click to browse term
  disease 17147
    disease of anatomical entity 16492
      nervous system disease 12092
        sensory system disease 5597
          eye disease 2727
            refractive error 176
              myopia 142
                High Myopia 81
                  High Myopia with Cataract and Vitreoretinal Degeneration 1
paths to the root