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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: HKPX1;   hereditary hyperekplexia 1
 primary_id: OMIM:149400
 alt_id: RDO:9003165
For additional species annotation, visit the Alliance of Genome Resources.

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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 ClinVar Annotator: match by term: Hyperekplexia 1 OMIM
ClinVar		 PMID:1334371, PMID:7518444, PMID:7611730, PMID:7874121, PMID:7881416, PMID:7981700, PMID:8298642, PMID:8571969, PMID:8651283, PMID:8733061, PMID:9009272, PMID:9067762, PMID:9920650, PMID:10514101, PMID:10817489, PMID:11389164, PMID:11702206, PMID:11781706, PMID:11973623, PMID:12169101, PMID:15365143, PMID:15771552, PMID:16078201, PMID:16236274, PMID:16832093, PMID:17536053, PMID:18043720, PMID:19732286, PMID:20631190, PMID:22264702, PMID:24033266, PMID:24108130, PMID:25036534, PMID:25333069, PMID:25568133, PMID:25741868, PMID:26733802, PMID:27391121, PMID:27435318, PMID:28122427, PMID:28138086, PMID:28174298, PMID:28492532, PMID:28617419, PMID:28879899, PMID:28985719, PMID:30078784, PMID:30182260, PMID:30311386 NCBI chr10:40,851,955...40,954,364
Ensembl chr10:40,855,559...40,953,651 		JBrowse link
G Gphn gephyrin ISS
ISO		 OMIM:149400
ClinVar Annotator: match by term: Hyperekplexia 1		 MouseDO
ClinVar		 PMID:12684523, PMID:28492532 NCBI chr 6:101,327,874...101,859,169
Ensembl chr 6:101,532,518...101,859,164 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          hyperekplexia 8
            hyperekplexia 1 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            neuromuscular disease 1777
              muscular disease 1199
                Muscle Rigidity 22
                  hyperekplexia 8
                    hyperekplexia 1 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.