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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:hyperekplexia 3
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Accession:DOID:0060698 term browser browse the term
Definition:A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15. (DO)
Synonyms:exact_synonym: HKPX3
 primary_id: OMIM:614618
 xref: ORDO:3197

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hyperekplexia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a5 solute carrier family 6 member 5 ISO ClinVar Annotator: match by term: Hyperekplexia 3 OMIM
ClinVar		 PMID:9536098 PMID:14622583 PMID:16199547 PMID:16751771 PMID:16884688 More... NCBI chrNW_004936654:1,525,843...1,576,220
Ensembl chrNW_004936654:1,525,843...1,576,220 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        central nervous system disease 11056
          hyperekplexia 13
            hyperekplexia 3 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        peripheral nervous system disease 3886
          neuropathy 3704
            neuromuscular disease 2899
              muscular disease 2043
                Muscle Rigidity 18
                  hyperekplexia 13
                    hyperekplexia 3 1
paths to the root