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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, Type I, Nonsyndromic Ocular
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Accession:DOID:9006763 term browser browse the term
Synonyms:exact_synonym: Stickler Syndrome type I, predominantly ocular;   atypical Stickler Syndrome
 narrow_synonym: DRRD;   rhegmatogenous retinal detachment, autosomal dominant
 primary_id: MESH:C563709
 alt_id: OMIM:609508;   RDO:0012898
For additional species annotation, visit the Alliance of Genome Resources.



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Stickler Syndrome, Type I, Nonsyndromic Ocular 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 term: Stickler syndrome, type I, nonsyndromic ocular OMIM
ClinVar
PMID:8317498 PMID:11007540 PMID:11410667 PMID:15671297 PMID:16752401 More... NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    sensory system disease 6410
      eye disease 2936
        Hereditary Eye Diseases 758
          Stickler Syndrome, Type I, Nonsyndromic Ocular 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          eye disease 2936
            Hereditary Eye Diseases 758
              Stickler Syndrome, Type I, Nonsyndromic Ocular 1
paths to the root