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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:Marshall/Stickler Syndrome
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Accession:DOID:9005570 term browser browse the term

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Marshall/Stickler Syndrome 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 term: Marshall/Stickler syndrome ClinVar PMID:1536174 PMID:10486316 NCBI chr20:30,284,471...30,508,660
Ensembl chr20:30,284,447...30,508,658 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15285
    syndrome 9981
      Stickler syndrome 11
        Marshall/Stickler Syndrome 1
Path 2
Term Annotations click to browse term
  disease 15285
    disease of anatomical entity 14908
      nervous system disease 13000
        Neurologic Manifestations 9473
          sensory system disease 6584
            Otorhinolaryngologic Diseases 1644
              auditory system disease 930
                Hearing Disorders 758
                  Hearing Loss 752
                    sensorineural hearing loss 570
                      Marshall syndrome 4
                        Marshall/Stickler Syndrome 1
paths to the root