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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
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Accession:DOID:0060695 term browser browse the term
Definition:A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia. (DO)
Synonyms:exact_synonym: Kok disease;   STHE;   congenital stiff man syndrome;   exagerrated startle reflex;   exaggerated startle reaction;   hyperekplexias;   startle disease
 primary_id: MESH:D000071017
 alt_id: OMIA:001594
 xref: GARD:3129;   OMIM:PS149400


show annotations for term's descendants           Sort by:
hyperekplexia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Kok disease ClinVar PMID:10192393 PMID:10391090 PMID:25157968 PMID:26619011 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G GLRA1 glycine receptor alpha 1 IAGP
ISS		 ClinVar Annotator: match by term: Hyperekplexia ClinVar
MouseDO		 NCBI chr 5:151,822,513...151,924,851
Ensembl chr 5:151,822,513...151,924,851 		JBrowse link
G GLRB glycine receptor beta IAGP ClinVar Annotator: match by term: Hyperekplexia ClinVar NCBI chr 4:157,076,150...157,172,090
Ensembl chr 4:157,076,125...157,172,090 		JBrowse link
G GPHN gephyrin IAGP ClinVar Annotator: match by term: Kok disease ClinVar PMID:12684523 PMID:25741868 PMID:28492532 PMID:29948376 NCBI chr14:66,508,147...67,735,355
Ensembl chr14:66,507,407...67,181,803 		JBrowse link
G LOC126806658 BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 IAGP ClinVar Annotator: match by term: Kok disease ClinVar PMID:10192393 PMID:10391090 PMID:25157968 PMID:26619011 NCBI chr 3:41,224,408...41,225,607 JBrowse link
G SLC6A5 solute carrier family 6 member 5 IAGP ClinVar Annotator: match by term: Hyperekplexia ClinVar PMID:16884688 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:20,599,608...20,659,285
Ensembl chr11:20,599,594...20,659,285 		JBrowse link
developmental and epileptic encephalopathy 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMER1 APC membrane recruitment protein 1 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 ClinVar PMID:28492532 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G ARHGEF9 Cdc42 guanine nucleotide exchange factor 9 IAGP
EXP		 ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:15215304 PMID:16199547 PMID:16616186 PMID:17576681 More... NCBI chr  X:63,634,967...63,785,214
Ensembl chr  X:63,634,967...63,809,274 		JBrowse link
G ASB12 ankyrin repeat and SOCS box containing 12 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 ClinVar PMID:28492532 NCBI chr  X:64,224,194...64,230,607
Ensembl chr  X:64,224,194...64,230,607 		JBrowse link
G MTMR8 myotubularin related protein 8 IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 ClinVar PMID:28492532 NCBI chr  X:64,268,081...64,395,452
Ensembl chr  X:64,268,081...64,395,452 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 ClinVar PMID:28492532 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
hyperekplexia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Hyperekplexia 1 ClinVar PMID:10192393 PMID:10391090 PMID:25157968 PMID:26619011 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G GLRA1 glycine receptor alpha 1 IAGP
ISS		 ClinVar Annotator: match by term: Hyperekplexia 1
ClinVar Annotator: match by term: GLRA1-related condition
ClinVar Annotator: match by term: GLRA1-related condition | ClinVar Annotator: match by term: Hyperekplexia 1
OMIM:149400		 OMIM
ClinVar
MouseDO		 PMID:1334371 PMID:7518444 PMID:7611730 PMID:7874121 PMID:7881416 More... NCBI chr 5:151,822,513...151,924,851
Ensembl chr 5:151,822,513...151,924,851 		JBrowse link
G GPHN gephyrin IAGP ClinVar Annotator: match by term: Hyperekplexia 1 ClinVar PMID:12684523 PMID:25741868 PMID:28492532 PMID:29948376 NCBI chr14:66,508,147...67,735,355
Ensembl chr14:66,507,407...67,181,803 		JBrowse link
G LOC123575602 Sharpr-MPRA regulatory region 1877 IAGP ClinVar Annotator: match by term: Hyperekplexia 1 ClinVar PMID:28492532 NCBI chr 5:151,905,668...151,905,962 JBrowse link
G LOC126806658 BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 IAGP ClinVar Annotator: match by term: Hyperekplexia 1 ClinVar PMID:10192393 PMID:10391090 PMID:25157968 PMID:26619011 NCBI chr 3:41,224,408...41,225,607 JBrowse link
hyperekplexia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GLRB glycine receptor beta IAGP
ISS		 ClinVar Annotator: match by term: Hyperekplexia 2
OMIM:614619		 ClinVar
MouseDO
OMIM		 PMID:9536098 PMID:11929858 PMID:16199547 PMID:17576681 PMID:21391991 More... NCBI chr 4:157,076,150...157,172,090
Ensembl chr 4:157,076,125...157,172,090 		JBrowse link
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 IAGP
ISS		 ClinVar Annotator: match by term: Hyperekplexia 3
OMIM:614618		 OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:14622583 PMID:16199547 PMID:16751771 PMID:16884688 More... NCBI chr11:20,599,608...20,659,285
Ensembl chr11:20,599,594...20,659,285 		JBrowse link
hyperekplexia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATAD1 ATPase family AAA domain containing 1 IAGP ClinVar Annotator: match by term: Hyperekplexia 4 OMIM
ClinVar		 PMID:25741868 PMID:28180185 PMID:28492532 PMID:29390050 PMID:29659736 More... NCBI chr10:87,751,512...87,841,361
Ensembl chr10:87,751,512...87,841,361 		JBrowse link
Stiff-Person syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNNB1 catenin beta 1 IAGP ClinVar Annotator: match by term: Stiff-person syndrome, congenital ClinVar PMID:10192393 PMID:10391090 PMID:25157968 PMID:26619011 NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096 		JBrowse link
G GLRA1 glycine receptor alpha 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary hyperekplexia		 CTD
ClinVar		 PMID:1334371 PMID:7518444 PMID:7611730 PMID:7881416 PMID:7981700 More... NCBI chr 5:151,822,513...151,924,851
Ensembl chr 5:151,822,513...151,924,851 		JBrowse link
G GLRB glycine receptor beta EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:157,076,150...157,172,090
Ensembl chr 4:157,076,125...157,172,090 		JBrowse link
G GPHN gephyrin EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stiff-person syndrome, congenital		 CTD
ClinVar		 PMID:12684523 PMID:25741868 PMID:28492532 PMID:29948376 NCBI chr14:66,508,147...67,735,355
Ensembl chr14:66,507,407...67,181,803 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 IDA RGD PMID:12225901 RGD:10411898 NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199 		JBrowse link
G LOC123575602 Sharpr-MPRA regulatory region 1877 IAGP ClinVar Annotator: match by term: Hereditary hyperekplexia ClinVar PMID:28492532 NCBI chr 5:151,905,668...151,905,962 JBrowse link
G LOC126806658 BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 IAGP ClinVar Annotator: match by term: Stiff-person syndrome, congenital ClinVar PMID:10192393 PMID:10391090 PMID:25157968 PMID:26619011 NCBI chr 3:41,224,408...41,225,607 JBrowse link
G SLC6A5 solute carrier family 6 member 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25480793 NCBI chr11:20,599,608...20,659,285
Ensembl chr11:20,599,594...20,659,285 		JBrowse link
G TRAK1 trafficking kinesin protein 1 ISS OMIM:184850 MouseDO NCBI chr 3:42,013,093...42,225,890
Ensembl chr 3:42,013,802...42,225,890 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          hyperekplexia 15
            Stiff-Person syndrome 9
            developmental and epileptic encephalopathy 8 5
            hyperekplexia 1 5
            hyperekplexia 2 1
            hyperekplexia 3 1
            hyperekplexia 4 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        peripheral nervous system disease 5382
          neuropathy 5129
            neuromuscular disease 4041
              muscular disease 2807
                Muscle Rigidity 20
                  hyperekplexia 15
                    Stiff-Person syndrome 9
                    developmental and epileptic encephalopathy 8 5
                    hyperekplexia 1 5
                    hyperekplexia 2 1
                    hyperekplexia 3 1
                    hyperekplexia 4 1
paths to the root