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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


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Stickler syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stickler syndrome type 2 | ClinVar Annotator: match by term: Stickler syndrome, beaded vitreous type		 CTD
ClinVar
OMIM		 PMID:8872475 PMID:9129742 PMID:9529347 PMID:9536098 PMID:9792885 More... NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    syndrome 10887
      Stickler syndrome 11
        Stickler syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        Neurologic Manifestations 10102
          sensory system disease 7022
            eye disease 3492
              eyelid disease 103
                vitreous disease 23
                  vitreous detachment 1
                    Stickler syndrome 2 1
paths to the root