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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;   MIM: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 ISO ClinVar Annotator: match by term: Stiff-man syndrome, congenital ClinVar PMID:10192393 PMID:10391090 PMID:25157968 PMID:26619011 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662 		JBrowse link
G Glra1 glycine receptor, alpha 1 ISS
ISO 		ClinVar Annotator: match by term: EXAGGERATED STARTLE REACTION | ClinVar Annotator: match by term: Hyperekplexia | ClinVar Annotator: match by term: STIFF-MAN SYNDROME, CONGENITAL MouseDO
ClinVar		 PMID:10817489 PMID:11702206 PMID:11781706 PMID:16078201 PMID:20631190 More... NCBI chr10:40,128,284...40,228,612
Ensembl chr10:40,130,121...40,227,815 		JBrowse link
G Glrb glycine receptor, beta ISO ClinVar Annotator: match by term: Hyperekplexia ClinVar NCBI chr 2:168,432,736...168,505,614
Ensembl chr 2:168,432,736...168,505,614 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: EXAGGERATED STARTLE REACTION | ClinVar Annotator: match by term: Hyperekplexia ClinVar PMID:12684523 PMID:25741868 PMID:28492532 NCBI chr 6:102,687,405...103,216,679
Ensembl chr 6:102,687,423...103,216,674 		JBrowse link
G Slc6a5 solute carrier family 6 member 5 ISO ClinVar Annotator: match by term: Hyperekplexia ClinVar PMID:16884688 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:108,767,245...108,833,173
Ensembl chr 1:108,781,553...108,833,165 		JBrowse link
developmental and epileptic encephalopathy 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO
ISS 		OMIM:300607
ClinVar Annotator: match by term: ARHGEF9-related condition | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8
CTD Direct Evidence: marker/mechanism 		OMIM
MouseDO
ClinVar
CTD		 PMID:9536098 PMID:15215304 PMID:16199547 PMID:16616186 PMID:17576681 More... NCBI chr  X:63,929,168...64,087,267
Ensembl chr  X:63,929,176...64,087,104 		JBrowse link
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 		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 chr10:40,128,284...40,228,612
Ensembl chr10:40,130,121...40,227,815 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Hyperekplexia 1 ClinVar PMID:12684523 PMID:25741868 PMID:28492532 PMID:29948376 NCBI chr 6:102,687,405...103,216,679
Ensembl chr 6:102,687,423...103,216,674 		JBrowse link
hyperekplexia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrb glycine receptor, beta ISO
ISS 		ClinVar Annotator: match by term: Hyperekplexia 2
OMIM:614619 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11929858 PMID:16199547 PMID:17576681 PMID:21391991 More... NCBI chr 2:168,432,736...168,505,614
Ensembl chr 2:168,432,736...168,505,614 		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 ISO
ISS 		ClinVar Annotator: match by term: Hyperekplexia 3 | ClinVar Annotator: match by term: SLC6A5-related condition
OMIM:614618 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:14622583 PMID:16199547 PMID:16751771 PMID:16884688 More... NCBI chr 1:108,767,245...108,833,173
Ensembl chr 1:108,781,553...108,833,165 		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 ISO ClinVar Annotator: match by term: Hyperekplexia 4 OMIM
ClinVar		 PMID:25741868 PMID:28180185 PMID:28492532 PMID:29390050 PMID:29659736 More... NCBI chr 1:239,957,329...240,023,792
Ensembl chr 1:239,957,882...240,009,822 		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 ISO ClinVar Annotator: match by term: Stiff-man syndrome, congenital ClinVar PMID:10192393 PMID:10391090 PMID:25157968 PMID:26619011 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662 		JBrowse link
G Glra1 glycine receptor, alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary hyperekplexia | ClinVar Annotator: match by term: Stiff-person syndrome, congenital 		CTD
ClinVar		 PMID:1334371 PMID:7518444 PMID:7611730 PMID:7874121 PMID:7881416 More... NCBI chr10:40,128,284...40,228,612
Ensembl chr10:40,130,121...40,227,815 		JBrowse link
G Glrb glycine receptor, beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:168,432,736...168,505,614
Ensembl chr 2:168,432,736...168,505,614 		JBrowse link
G Gphn gephyrin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stiff-person syndrome, congenital 		CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 6:102,687,405...103,216,679
Ensembl chr 6:102,687,423...103,216,674 		JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO RGD PMID:12225901 RGD:10411898 NCBI chr18:45,515,427...45,604,467
Ensembl chr18:45,515,373...45,604,467 		JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Stiff-person syndrome, congenital ClinVar PMID:24225367 PMID:25741868 PMID:28492532 NCBI chr 1:19,492,126...20,140,056
Ensembl chr 1:19,244,599...20,140,056 		JBrowse link
G Slc6a5 solute carrier family 6 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25480793 NCBI chr 1:108,767,245...108,833,173
Ensembl chr 1:108,781,553...108,833,165 		JBrowse link
G Trak1 trafficking kinesin protein 1 ISS OMIM:184850 MouseDO NCBI chr 8:129,861,967...130,016,870
Ensembl chr 8:129,861,977...130,016,870 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        central nervous system disease 6393
          hyperekplexia 10
            Stiff-Person syndrome 8
            developmental and epileptic encephalopathy 8 1
            hyperekplexia 1 2
            hyperekplexia 2 1
            hyperekplexia 3 1
            hyperekplexia 4 1
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        peripheral nervous system disease 2242
          neuropathy 2032
            neuromuscular disease 1464
              muscular disease 1132
                Muscle Rigidity 15
                  hyperekplexia 10
                    Stiff-Person syndrome 8
                    developmental and epileptic encephalopathy 8 1
                    hyperekplexia 1 2
                    hyperekplexia 2 1
                    hyperekplexia 3 1
                    hyperekplexia 4 1
paths to the root