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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:vitreous detachment
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Accession:DOID:9726 term browser browse the term
Definition:Detachment of the corpus vitreum (VITREOUS BODY) from its normal attachments, especially the retina, due to shrinkage from degenerative or inflammatory conditions, trauma, myopia, or senility.
Synonyms:exact_synonym: Posterior Vitreous Detachment;   Posterior Vitreous Detachments;   Vitreous Detachments
 primary_id: MESH:D020255;   RDO:0003342
 xref: NCI:C50807
For additional species annotation, visit the Alliance of Genome Resources.


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Stickler syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by OMIM:604841
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Stickler syndrome, type 2
ClinVar Annotator: match by term: Stickler syndrome type 2
OMIM
ClinVar
PMID:8872475, PMID:10573014, PMID:10725403, PMID:11668615, PMID:17999364, PMID:20513134, PMID:25326635, PMID:25741868, PMID:26467025, PMID:27081569, PMID:28492532 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
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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
        vitreous detachment 1
          Stickler syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            eyelid disease 111
              vitreous disease 20
                vitreous detachment 1
                  Stickler syndrome 2 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.