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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
 alt_id: RDO:0015068
For additional species annotation, visit the Alliance of Genome Resources.



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 Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Paragangliomas 1 with sensorineural hearing loss ClinVar PMID:10657297 PMID:11156372 PMID:11343322 PMID:11391796 PMID:11897817 More... NCBI chr 8:50,944,717...50,954,298
Ensembl chr 8:50,944,704...50,954,238
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    sensory system disease 5712
      auditory system disease 917
        inner ear disease 652
          sensorineural hearing loss 612
            Paragangliomas with Sensorineural Hearing Loss 1
Path 2
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        genetic disease 9072
          monogenic disease 7224
            autosomal genetic disease 6350
              autosomal dominant disease 4485
                paraganglioma 40
                  Paragangliomas 1 1
                    Paragangliomas with Sensorineural Hearing Loss 1
paths to the root