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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 1
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Accession:DOID:0060696 term browser browse the term
Definition:A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. (DO)
Synonyms:exact_synonym: GLRA1-RELATED CONDITION;   HKPX1;   hereditary hyperekplexia 1
 primary_id: OMIM:149400


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hyperekplexia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glra1 glycine receptor, alpha 1 ISO
ISS		 OMIM:149400
ClinVar Annotator: match by term: GLRA1-related condition | ClinVar Annotator: match by term: Hyperekplexia 1		 OMIM
MouseDO
ClinVar		 PMID:1334371 PMID:7518444 PMID:7611730 PMID:7874121 PMID:7881416 More... NCBI chr10:39,625,853...39,727,897
Ensembl chr10:39,629,459...39,727,162 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Hyperekplexia 1 ClinVar PMID:12684523 PMID:25741868 PMID:28492532 PMID:29948376 NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          hyperekplexia 12
            hyperekplexia 1 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          neuropathy 3907
            neuromuscular disease 3059
              muscular disease 2148
                Muscle Rigidity 17
                  hyperekplexia 12
                    hyperekplexia 1 2
paths to the root