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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:HELIX syndrome
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Accession:DOID:9007180 term browser browse the term
Synonyms:exact_synonym: HELIX;   hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia
 primary_id: OMIM:617671


show annotations for term's descendants           Sort by:
HELIX syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn10 claudin 10 ISO ClinVar Annotator: match by term: HELIX syndrome OMIM
ClinVar		 PMID:25741868 PMID:25741903 PMID:28686597 PMID:28771254 PMID:32860008 NCBI chr15:95,862,785...95,954,526
Ensembl chr15:95,862,760...95,954,526 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      HELIX syndrome 1
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      nervous system disease 13996
        Neurologic Manifestations 9941
          sensory system disease 6836
            skin disease 3901
              Skin Abnormalities 1294
                trichothiodystrophy 11
                  HELIX syndrome 1
paths to the root