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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.


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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 PMID:12811540 PMID:15479192 PMID:17102085 PMID:19454582 PMID:21348866 PMID:21937622 PMID:22290790 PMID:23175444 PMID:23433498 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24436918 PMID:24758185 PMID:25014000 PMID:25326637 PMID:25494863 PMID:25695889 PMID:25741868 PMID:28492532 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      auditory system disease 751
        inner ear disease 538
          sensorineural hearing loss 498
            Paragangliomas with Sensorineural Hearing Loss 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              autosomal dominant disease 3709
                paraganglioma 40
                  Paragangliomas 1 1
                    Paragangliomas with Sensorineural Hearing Loss 1
paths to the root