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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
 primary_id: MESH:C566528
 alt_id: OMIM:602540
For additional species annotation, visit the Alliance of Genome Resources.



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 ClinVar Annotator: match by term: HID SYNDROME | ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness OMIM
ClinVar
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    syndrome 9798
      HID Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      nervous system disease 13264
        sensory system disease 6520
          Otorhinolaryngologic Diseases 1676
            auditory system disease 1079
              Hearing Disorders 818
                Hearing Loss 814
                  sensorineural hearing loss 668
                    HID Syndrome 1
paths to the root