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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
ClinVar Annotator: match by term: Stickler syndrome, beaded vitreous type
OMIM
ClinVar
PMID:7695699 PMID:8218237 PMID:8872475 PMID:9536098 PMID:10486316 More... NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      Stickler syndrome 11
        Stickler syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        sensory system disease 5611
          eye disease 2733
            eyelid disease 93
              vitreous disease 21
                vitreous detachment 1
                  Stickler syndrome 2 1
paths to the root