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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:Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
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Accession:DOID:9003716 term browser browse the term
Synonyms:exact_synonym: VPED
 primary_id: MESH:C565179
 alt_id: OMIM:619248
For additional species annotation, visit the Alliance of Genome Resources.



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Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Vitreoretinopathy with phalangeal epiphyseal dysplasia ClinVar
OMIM
PMID:12205109 NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    sensory system disease 6435
      eye disease 2961
        Hereditary Eye Diseases 755
          Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      musculoskeletal system disease 7282
        connective tissue disease 5140
          bone disease 3815
            bone development disease 1885
              osteochondrodysplasia 618
                Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 1
paths to the root