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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:Stickler syndrome 2
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Accession:DOID:0080675 term browser browse the term
Definition:A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21. (DO)
Synonyms:exact_synonym: STL2;   Stickler Syndrome, Type II;   Stickler syndrome, beaded vitreous type;   Stickler syndrome, type 2;   Stickler syndrome, vitreous type 2
 primary_id: MESH:C537493
 alt_id: OMIM:604841
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 16096
    syndrome 6993
      Stickler syndrome 6
        Stickler syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        sensory system disease 5163
          eye disease 2592
            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.