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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
 alt_id: RDO:9000459
 xref: ORDO:3197
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:614618
ClinVar Annotator: match by term: Hyperekplexia 3
OMIM
ClinVar
PMID:14622583 PMID:16199547 PMID:16751771 PMID:16884688 PMID:22700964 More... NCBI chr 1:99,645,389...99,697,016
Ensembl chr 1:99,645,389...99,697,010
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          hyperekplexia 8
            hyperekplexia 3 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        peripheral nervous system disease 2533
          neuropathy 2330
            neuromuscular disease 1835
              muscular disease 1236
                Muscle Rigidity 15
                  hyperekplexia 8
                    hyperekplexia 3 1
paths to the root