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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



show annotations for term's descendants           Sort by:
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 chr 2:204,509,136...204,702,264
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 19141
    syndrome 11372
      Stickler syndrome 13
        Marshall/Stickler Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19141
    Pathological Conditions, Signs and Symptoms 13624
      Signs and Symptoms 11214
        Neurologic Manifestations 10450
          sensory system disease 7375
            Otorhinolaryngologic Diseases 1797
              auditory system disease 1064
                Hearing Disorders 848
                  Hearing Loss 843
                    sensorineural hearing loss 648
                      Marshall syndrome 4
                        Marshall/Stickler Syndrome 1
paths to the root