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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:primary_id: MESH:C565179;   RDO:0013900
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 null ClinVar PMID:12205109 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      eye disease 2593
        Hereditary Eye Diseases 572
          Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      musculoskeletal system disease 5715
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1330
              osteochondrodysplasia 435
                Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.