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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:HID Syndrome
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Accession:DOID:9008762 term browser browse the term
Synonyms:exact_synonym: Hystrix-Like Ichthyosis with Deafness
 xref: MESH:C566528;   MIM:602540;   MONDO:0011245


show annotations for term's descendants           Sort by:
HID Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HID SYNDROME | ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness 		OMIM
CTD
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chr15:35,375,977...35,393,817
Ensembl chr15:35,375,692...35,393,877 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      HID Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          sensory system disease 7348
            Otorhinolaryngologic Diseases 1809
              auditory system disease 1073
                Hearing Disorders 858
                  Hearing Loss 853
                    sensorineural hearing loss 653
                      HID Syndrome 1
paths to the root