Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:familial hemiplegic migraine
go back to main search page
Accession:DOID:0060178 term browser browse the term
Definition:A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. (DO)
Synonyms:exact_synonym: familial hemiplegic migraines
 xref: GARD:10975;   ICD10CM:G43.8;   ICD9CM:346.8;   OMIM:PS141500;   ORDO:569


show annotations for term's descendants           Sort by:
familial hemiplegic migraine term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:9536098 PMID:11439943 PMID:12023326 PMID:12539047 PMID:14667076 More... NCBI chr 4:90,341,316...90,371,040
Ensembl chr 4:90,341,322...90,370,996 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:8734765 PMID:8898206 PMID:9488686 PMID:9566402 PMID:9915947 More... NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182 		JBrowse link
G CASQ1 calsequestrin 1 ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:28492532 NCBI chr 4:90,276,752...90,288,990
Ensembl chr 4:90,276,757...90,288,250 		JBrowse link
G COPA COPI coat complex subunit alpha ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:28492532 NCBI chr 4:90,142,629...90,191,743
Ensembl chr 4:90,141,216...90,193,389 		JBrowse link
G DCAF8 DDB1 and CUL4 associated factor 8 ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:28492532 NCBI chr 4:90,214,916...90,263,259
Ensembl chr 4:90,214,973...90,261,737 		JBrowse link
G IGSF8 immunoglobulin superfamily member 8 ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:28492532 NCBI chr 4:90,393,614...90,401,380
Ensembl chr 4:90,393,624...90,401,369 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:28492532 NCBI chr 4:90,421,956...90,457,406
Ensembl chr 4:90,422,025...90,457,406 		JBrowse link
G KCNJ9 potassium inwardly rectifying channel subfamily J member 9 ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:28492532 NCBI chr 4:90,402,042...90,412,426
Ensembl chr 4:90,397,850...90,412,373 		JBrowse link
G NCSTN nicastrin ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:28492532 NCBI chr 4:90,121,209...90,142,934
Ensembl chr 4:90,119,002...90,142,890 		JBrowse link
G PEA15 proliferation and apoptosis adaptor protein 15 ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:28492532 NCBI chr 4:90,263,600...90,276,142
Ensembl chr 4:90,263,604...90,276,147 		JBrowse link
G PEX19 peroxisomal biogenesis factor 19 ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:28492532 NCBI chr 4:90,196,986...90,213,308
Ensembl chr 4:90,195,852...90,205,215 		JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:18621678 PMID:19220312 PMID:20301562 PMID:25741868 PMID:26467025 More... NCBI chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,066 		JBrowse link
familial hemiplegic migraine 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Migraine, familial hemiplegic 1, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1 | ClinVar Annotator: match by term: Migraine, sporadic hemiplegic, with progressive cerebellar ataxia | ClinVar Annotator: match by term: Sporadic hemiplegic migraine OMIM
ClinVar		 PMID:7537420 PMID:8734765 PMID:8898206 PMID:9329229 PMID:9488686 More... NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182 		JBrowse link
G WDR45 WD repeat domain 45 ISO ClinVar Annotator: match by term: Migraine, familial hemiplegic, 1 ClinVar PMID:25741868 NCBI chr  X:43,150,691...43,155,981
Ensembl chr  X:43,147,477...43,156,234 		JBrowse link
familial hemiplegic migraine 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Migraine, familial hemiplegic, 2 OMIM
ClinVar		 PMID:9536098 PMID:9579893 PMID:11439943 PMID:12023326 PMID:12539047 More... NCBI chr 4:90,341,316...90,371,040
Ensembl chr 4:90,341,322...90,370,996 		JBrowse link
familial hemiplegic migraine 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCN1A sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Migraine, familial hemiplegic, 3 OMIM
ClinVar		 PMID:1893099 PMID:9536098 PMID:11254444 PMID:11254445 PMID:11359211 More... NCBI chr15:72,529,866...72,696,715
Ensembl chr15:72,529,875...72,678,066 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14875
      nervous system disease 12962
        central nervous system disease 11610
          brain disease 10900
            Headache Disorders 64
              Primary Headache Disorders 64
                migraine 63
                  migraine with aura 20
                    familial hemiplegic migraine 13
                      Familial Hemiplegic Migraine 4 0
                      familial hemiplegic migraine 1 2
                      familial hemiplegic migraine 2 1
                      familial hemiplegic migraine 3 1
paths to the root