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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;   SLC6A5-RELATED CONDITION
 primary_id: MIM: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
ISS 		OMIM:614618
ClinVar Annotator: match by term: Hyperekplexia 3 | ClinVar Annotator: match by term: SLC6A5-related condition 		OMIM
MouseDO
ClinVar		 PMID:9536098 PMID:14622583 PMID:16199547 PMID:16751771 PMID:16884688 More... NCBI chr 1:99,645,389...99,697,016
Ensembl chr 1:108,781,553...108,833,165 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          hyperekplexia 21
            hyperekplexia 3 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        peripheral nervous system disease 4409
          neuropathy 4194
            neuromuscular disease 3236
              muscular disease 2244
                Muscle Rigidity 26
                  hyperekplexia 21
                    hyperekplexia 3 1
paths to the root