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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 OMIM:602540
ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness
ClinVar Annotator: match by term: HID SYNDROME
OMIM
ClinVar
PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 PMID:2956987 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 17289
    syndrome 8166
      HID Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          Otorhinolaryngologic Diseases 1349
            auditory system disease 913
              Hearing Disorders 741
                Hearing Loss 737
                  sensorineural hearing loss 609
                    HID Syndrome 1
paths to the root