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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



show annotations for term's descendants           Sort by:
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 OMIM
ClinVar
PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chr 7:129,098,489...129,127,560
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 21128
    sensory system disease 6939
      eye disease 3475
        retinal disease 1215
          Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        Neurologic Manifestations 10040
          sensory system disease 6939
            eye disease 3475
              retinal disease 1215
                Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 1
paths to the root