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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:Hittner Hirsch Kreh Syndrome
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Accession:DOID:9004226 term browser browse the term
Synonyms:primary_id: MESH:C538323;   RDO:0004286
For additional species annotation, visit the Alliance of Genome Resources.


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Hittner Hirsch Kreh Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:16763960 PMID:17661815 PMID:18073582 PMID:18414213 PMID:18445044 PMID:18834967 PMID:21158681 PMID:21995344 PMID:22033296 PMID:22461308 PMID:22539353 PMID:23378218 PMID:23533228 PMID:24033266 PMID:24862881 PMID:25077900 PMID:25107291 PMID:25741868 PMID:25931334 PMID:25996639 PMID:26467025 PMID:28166811 PMID:28475860 PMID:28492532 PMID:29255181 PMID:29304373 PMID:31042289 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    syndrome 7653
      Hittner Hirsch Kreh Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        sensory system disease 5335
          Otorhinolaryngologic Diseases 1270
            auditory system disease 850
              Hearing Disorders 710
                Hearing Loss 706
                  sensorineural hearing loss 597
                    Hittner Hirsch Kreh Syndrome 1
paths to the root