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Paragangliomas with Sensorineural Hearing Loss - Ontology Report - Rat Genome Database

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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:Paragangliomas with Sensorineural Hearing Loss
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Accession:DOID:9006360 term browser browse the term
Synonyms:exact_synonym: PARAGANGLIOMAS 1 WITH SENSORINEURAL HEARING LOSS;   Paragangliomas 1, with or without deafness
 primary_id: MESH:C566831

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show annotations for term's descendants           Sort by:
Paragangliomas with Sensorineural Hearing Loss term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126861339 BRD4-independent group 4 enhancer GRCh37_chr11:111957035-111958234 IAGP ClinVar Annotator: match by term: Paragangliomas with sensorineural hearing loss ClinVar PMID:10657297 PMID:11156372 PMID:11391796 PMID:11526495 PMID:12007193 More... NCBI chr11:112,086,311...112,087,510 JBrowse link
G SDHD succinate dehydrogenase complex subunit D IAGP ClinVar Annotator: match by term: Paragangliomas with sensorineural hearing loss ClinVar PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 More... NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 147117
    sensory system disease 26694
      auditory system disease 2153
        inner ear disease 1422
          sensorineural hearing loss 1218
            Paragangliomas with Sensorineural Hearing Loss 2
Path 2
Term Annotations click to browse term
  disease 147117
    disease of anatomical entity 134156
      nervous system disease 71651
        Neurologic Manifestations 37918
          sensory system disease 26694
            Otorhinolaryngologic Diseases 4244
              auditory system disease 2153
                Hearing Disorders 1742
                  Hearing Loss 1736
                    sensorineural hearing loss 1218
                      Paragangliomas with Sensorineural Hearing Loss 2
paths to the root