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
Accession: DOID:0060695
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: OMIM:PS149400
For additional species annotation, visit the
Alliance of Genome Resources .
G
Glra1
glycine receptor, alpha 1
ISO ISS
ClinVar Annotator: match by term: Hyperekplexia
ClinVar MouseDO
NCBI chr10:39,625,853...39,727,897
Ensembl chr10:39,629,459...39,727,162
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Glrb
glycine receptor, beta
ISO
ClinVar Annotator: match by term: Hyperekplexia
ClinVar
NCBI chr 2:166,134,624...166,207,509
Ensembl chr 2:166,134,626...166,207,489
G
Gphn
gephyrin
ISO
ClinVar Annotator: match by term: Kok disease
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
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 1:99,645,389...99,697,016
Ensembl chr 1:99,645,389...99,697,010
G
Arhgef9
Cdc42 guanine nucleotide exchange factor 9
ISO
ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8
OMIM ClinVar
PMID:9536098 PMID:15215304 PMID:17576681 PMID:17893116 PMID:18414213 PMID:18615734 PMID:21633362 PMID:21731583 PMID:23033978 PMID:25678704 PMID:25741868 PMID:26467025 PMID:26834553 PMID:27238888 PMID:28492532 PMID:28589176 PMID:28708303 PMID:29130122 PMID:30914922 PMID:32005694 PMID:32860008 More...
NCBI chr X:59,919,560...60,077,538
Ensembl chr X:59,920,870...60,077,513
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:10817489 PMID:11702206 PMID:11781706 PMID:11973623 PMID:12746425 PMID:15771552 PMID:16832093 PMID:17536053 PMID:18043720 PMID:20631190 PMID:22264702 PMID:24033266 PMID:24108130 PMID:25333069 PMID:25568133 PMID:25741868 PMID:26733802 PMID:28138086 PMID:28492532 PMID:28617419 PMID:28879899 PMID:28985719 More...
NCBI chr10:39,625,853...39,727,897
Ensembl chr10:39,629,459...39,727,162
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
G
Glrb
glycine receptor, beta
ISO
ClinVar Annotator: match by term: Hyperekplexia 2
OMIM ClinVar
PMID:9536098 PMID:11929858 PMID:16199547 PMID:17576681 PMID:21391991 PMID:23182654 PMID:23184146 PMID:25741868 PMID:28492532 PMID:32911248 PMID:33323420 More...
NCBI chr 2:166,134,624...166,207,509
Ensembl chr 2:166,134,626...166,207,489
G
Slc6a5
solute carrier family 6 member 5
ISO
ClinVar Annotator: match by term: Hyperekplexia 3
OMIM ClinVar
PMID:9536098 PMID:14622583 PMID:16199547 PMID:16751771 PMID:16884688 PMID:17576681 PMID:18707791 PMID:20301437 PMID:21515498 PMID:22114948 PMID:22700964 PMID:22753417 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29859229 PMID:31604777 PMID:32714574 PMID:33310157 More...
NCBI chr 1:99,645,389...99,697,016
Ensembl chr 1:99,645,389...99,697,010
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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
NCBI chr 1:230,544,227...230,610,524
Ensembl chr 1:230,544,047...230,596,548
G
Glra1
glycine receptor, alpha 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary hyperekplexia
CTD ClinVar
PMID:1334371 PMID:7518444 PMID:7611730 PMID:7881416 PMID:7981700 PMID:8298642 PMID:8733061 PMID:9009272 PMID:9536098 PMID:9927632 PMID:10514101 PMID:10817489 PMID:11702206 PMID:12169101 PMID:12746425 PMID:15365143 PMID:16199547 PMID:17536053 PMID:17576681 PMID:18175347 PMID:19732286 PMID:20631190 PMID:22532536 PMID:24033266 PMID:24108130 PMID:25036534 PMID:25333069 PMID:25568133 PMID:25741868 PMID:26733802 PMID:28138086 PMID:28174298 PMID:28492532 PMID:28617419 PMID:28985719 PMID:30182260 PMID:30866851 More...
NCBI chr10:39,625,853...39,727,897
Ensembl chr10:39,629,459...39,727,162
G
Glrb
glycine receptor, beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 2:166,134,624...166,207,509
Ensembl chr 2:166,134,626...166,207,489
G
Gphn
gephyrin
ISO
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 chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612
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Hsd17b4
hydroxysteroid (17-beta) dehydrogenase 4
ISO
RGD
PMID:12225901
RGD:10411898
NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952
G
Slc6a5
solute carrier family 6 member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25480793
NCBI chr 1:99,645,389...99,697,016
Ensembl chr 1:99,645,389...99,697,010
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Trak1
trafficking kinesin protein 1
ISS
OMIM:184850
MouseDO
NCBI chr 8:120,984,445...121,139,357
Ensembl chr 8:120,984,431...121,139,367
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