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: Stiff-Person syndrome
Accession: DOID:13366
browse the term
Definition: A movement disease that is of unknown etiology characterized by progressive rigidity. (DO)
Synonyms: exact_synonym: Moersch Woltmann Syndrome; SPS; Startle Syndrome; Startle Syndromes; congenital stiff-man syndrome; congenital stiff-man syndromes; congenital stiff-person syndrome; congenital stiff-person syndromes; familial startle disease; hereditary hyperekplexia; stiff man syndrome; stiff-baby syndrome; stiff-baby syndromes; stiff-trunk syndrome; stiff-trunk syndromes; stiffman syndrome
narrow_synonym: PER; PERM; progressive encephalomyelitis with rigidity
primary_id: MESH:D016750
alt_id: MESH:C538136 ; MIM:184850
xref: EFO:0007498 ; GARD:5023 ; ICD10CM:G25.82 ; ICD9CM:333.91 ; NCI:C85170
For additional species annotation, visit the
Alliance of Genome Resources .
G
ATOX1
antioxidant 1 copper chaperone
ISO
ClinVar Annotator: match by term: Hereditary hyperekplexia
ClinVar
PMID:28492532
NCBI chr16:71,299,321...71,314,598
Ensembl chr16:71,299,321...71,314,597
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CTNNB1
catenin beta 1
ISO
ClinVar Annotator: match by term: Stiff-man syndrome, congenital
ClinVar
PMID:10192393 PMID:10391090 PMID:25157968 PMID:26619011
NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,164,277...25,208,311
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FAT2
FAT atypical cadherin 2
ISO
ClinVar Annotator: match by term: Hereditary hyperekplexia
ClinVar
PMID:28492532
NCBI chr16:71,448,491...71,531,664
Ensembl chr16:71,469,847...71,530,501
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G3BP1
G3BP stress granule assembly factor 1
ISO
ClinVar Annotator: match by term: Hereditary hyperekplexia
ClinVar
PMID:28492532
NCBI chr16:71,236,025...71,276,111
Ensembl chr16:71,236,339...71,276,078
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GLRA1
glycine receptor alpha 1
ISO
ClinVar Annotator: match by term: Hereditary hyperekplexia | ClinVar Annotator: match by term: Stiff-person syndrome, congenital
ClinVar
PMID:1334371 PMID:7518444 PMID:7611730 PMID:7881416 PMID:7981700 PMID:8298642 PMID:8733061 PMID:9009272 PMID:9536098 PMID:10514101 PMID:10817489 PMID:11389164 PMID:11702206 PMID:11781706 PMID:12169101 PMID:12746425 PMID:14673895 PMID:15365143 PMID:15771552 PMID:16078201 PMID:16199547 PMID:16236274 PMID:16941485 PMID:17536053 PMID:17576681 PMID:19073849 PMID:19732286 PMID:20631190 PMID:22532536 PMID:24033266 PMID:24108130 PMID:25036534 PMID:25333069 PMID:25356525 PMID:25568133 PMID:25741868 PMID:26733802 PMID:28122427 PMID:28138086 PMID:28174298 PMID:28348128 PMID:28492532 PMID:28617419 PMID:28985719 PMID:30078784 PMID:30109271 PMID:30182260 PMID:30866851 PMID:32319239 PMID:32695065 More...
NCBI chr16:71,140,751...71,236,867
Ensembl chr16:71,142,198...71,230,344
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GLRB
glycine receptor beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 8:45,912,869...46,034,455
Ensembl chr 8:45,912,938...46,034,448
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GM2A
ganglioside GM2 activator
ISO
ClinVar Annotator: match by term: Hereditary hyperekplexia
ClinVar
PMID:28492532
NCBI chr16:71,742,090...71,767,872
Ensembl chr16:71,742,090...71,754,884
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GPHN
gephyrin
ISO
ClinVar Annotator: match by term: Stiff-person syndrome, congenital
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:90,345,726...90,913,625
Ensembl chr 7:90,346,714...90,916,455
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HSD17B4
hydroxysteroid 17-beta dehydrogenase 4
ISO
RGD
PMID:12225901
RGD:10411898
NCBI chr 2:123,313,445...123,401,386
Ensembl chr 2:123,313,448...123,402,709
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LAMA2
laminin subunit alpha 2
ISO
ClinVar Annotator: match by term: Stiff-person syndrome, congenital ClinVar Annotator: match by term: STIFF-PERSON SYNDROME, CONGENITAL
ClinVar
PMID:11938437 PMID:18700894 PMID:22675738 PMID:24225367 PMID:25741868 PMID:28492532 PMID:32904964 More...
NCBI chr 1:33,765,412...34,359,741
Ensembl chr 1:33,866,850...34,359,698
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SLC36A1
solute carrier family 36 member 1
ISO
ClinVar Annotator: match by term: Hereditary hyperekplexia
ClinVar
PMID:28492532
NCBI chr16:71,540,646...71,589,532
Ensembl chr16:71,538,296...71,589,456
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SLC36A2
solute carrier family 36 member 2
ISO
ClinVar Annotator: match by term: Hereditary hyperekplexia
ClinVar
PMID:28492532
NCBI chr16:71,661,946...71,689,464
Ensembl chr16:71,618,797...71,689,218
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SLC36A3
solute carrier family 36 member 3
ISO
ClinVar Annotator: match by term: Hereditary hyperekplexia
ClinVar
PMID:28492532
NCBI chr16:71,689,211...71,732,634
Ensembl chr16:71,689,245...71,731,418
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SLC6A5
solute carrier family 6 member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25480793
NCBI chr 2:38,767,447...38,826,891
Ensembl chr 2:38,767,501...38,826,783
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SPARC
secreted protein acidic and cysteine rich
ISO
ClinVar Annotator: match by term: Hereditary hyperekplexia
ClinVar
PMID:28492532
NCBI chr16:71,368,164...71,380,972
Ensembl chr16:71,357,586...71,381,161
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TRAK1
trafficking kinesin protein 1
ISO
OMIM:184850
MouseDO
NCBI chr13:25,773,345...25,934,770
Ensembl chr13:25,774,250...25,935,828
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