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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:migraine with aura
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Accession:DOID:10024 term browser browse the term
Definition:A subtype of migraine disorder, characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred VISION; HALLUCINATIONS; VERTIGO; NUMBNESS; and difficulty in concentrating and speaking. Aura is usually followed by features of the COMMON MIGRAINE, such as PHOTOPHOBIA; PHONOPHOBIA; and NAUSEA. (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)
Synonyms:exact_synonym: Basilar Migraine;   Basilar Type Migraine;   Classic Migraine;   Classical Migraine;   Complicated Migraine;   Hemiplegic-Ophthalmoplegic Migraine;   Migraine Aura without Headache;   Migraine with Acute Onset Aura;   Migraine with Auras;   Migraine with Prolonged Aura;   acute onset aura migraine;   basilar artery migraine;   basilar migraines;   migraine with typical aura;   prolonged aura migraine;   typical aura without headache
 related_synonym: MGR13;   MGR7;   MGR9;   migraine with aura, susceptibility to, 7;   migraine with aura, susceptibility to, 9;   migraine with or without aura, susceptibility to, 13
 primary_id: MESH:D020325
 alt_id: OMIM:609179;   OMIM:609670;   OMIM:613656
 xref: ICD10CM:G43.1;   ICD10CM:G43.109;   ICD9CM:346.0;   NCI:C117005
For additional species annotation, visit the Alliance of Genome Resources.


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migraine with aura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO RGD PMID:12953268 RGD:1358436 NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO DNA:mutation:cds:P.V1457L(human) RGD PMID:10408532 RGD:10054422 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Dbh dopamine beta-hydroxylase ISO DNA:insertion, deletion:5' utr:g.-4767+?--4688-? (human) RGD PMID:17095019 RGD:1625569 NCBI chr 3:5,709,236...5,731,895
Ensembl chr 3:5,709,236...5,731,898
JBrowse link
G Drd2 dopamine receptor D2 ISO DNA:snp:cds:p.H313H (human) RGD PMID:9513185 RGD:1358603 NCBI chr 8:53,678,777...53,743,643
Ensembl chr 8:53,678,777...53,743,642
JBrowse link
G Kcnk18 potassium two pore domain channel subfamily K member 18 susceptibility ISO ClinVar Annotator: match by term: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:20871611, PMID:25741868, PMID:28492532 NCBI chr 1:280,383,579...280,397,784
Ensembl chr 1:280,383,579...280,397,784
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T(human) RGD PMID:21635773 RGD:7387244 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Migraine with aura ClinVar PMID:30311386, PMID:32581362 NCBI chr 7:14,138,495...14,189,688
Ensembl chr 7:14,138,495...14,189,688
JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO DNA:snp:intron:g.36670T>C rs7217270 (human) RGD PMID:22162417 RGD:7175557 NCBI chr10:59,829,755...59,863,780
Ensembl chr10:59,831,241...59,860,987
JBrowse link
familial hemiplegic migraine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO
ISS
ClinVar Annotator: match by term: Familial hemiplegic migraine
OMIM:141500 | OMIM:300125 | OMIM:602481 | OMIM:607516 | OMIM:609634
ClinVar
MouseDO
PMID:1361034, PMID:11439943, PMID:12023326, PMID:14667076, PMID:15159495, PMID:15174025, PMID:15286158, PMID:16088919, PMID:16344534, PMID:16538223, PMID:17473835, PMID:17877748, PMID:17952365, PMID:18056581, PMID:18414213, PMID:18513263, PMID:18728015, PMID:18957371, PMID:19458722, PMID:19874388, PMID:20837964, PMID:21352219, PMID:21533730, PMID:22117059, PMID:23918834, PMID:23954377, PMID:24396618, PMID:24921013, PMID:25138102, PMID:25741868, PMID:26467025, PMID:27226003, PMID:27864847, PMID:28492532, PMID:28811059, PMID:29062094, PMID:29655203, PMID:29778030, PMID:29956301, PMID:30311386 NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISS OMIM:141500 | OMIM:300125 | OMIM:602481 | OMIM:607516 | OMIM:609634 MouseDO NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
G Igsf8 immunoglobulin superfamily, member 8 ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:28492532 NCBI chr13:90,692,590...90,703,262
Ensembl chr13:90,692,666...90,700,789
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 chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
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 chr13:90,703,046...90,710,148
Ensembl chr13:90,703,036...90,710,287
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
familial hemiplegic migraine 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by OMIM:141500
ClinVar Annotator: match by term: Familial hemiplegic migraine type 1
ClinVar Annotator: match by term: Migraine, sporadic hemiplegic, with progressive cerebellar ataxia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1564484, PMID:3358708, PMID:7537420, PMID:8734765, PMID:8898206, PMID:8988170, PMID:9005860, PMID:9302278, PMID:9403487, PMID:9436730, PMID:9488686, PMID:9559993, PMID:9879686, PMID:9915947, PMID:10024348, PMID:10408532, PMID:10408534, PMID:10734061, PMID:10987655, PMID:11061267, PMID:11176968, PMID:11179022, PMID:11409427, PMID:11439943, PMID:11564488, PMID:11723274, PMID:11814735, PMID:11960817, PMID:11971066, PMID:11985388, PMID:12056940, PMID:12111613, PMID:12707077, PMID:12756131, PMID:14718690, PMID:15032980, PMID:15240985, PMID:15300451, PMID:15452324, PMID:15483044, PMID:15710862, PMID:15795222, PMID:16043807, PMID:16325861, PMID:16595610, PMID:16866717, PMID:17142831, PMID:17495624, PMID:17575281, PMID:18056581, PMID:18313928, PMID:18400034, PMID:18498393, PMID:18541804, PMID:18644040, PMID:18940563, PMID:19484318, PMID:19586927, PMID:19811514, PMID:20097664, PMID:20129625, PMID:20156848, PMID:20204399, PMID:20233618, PMID:20682717, PMID:21183743, PMID:22000314, PMID:22190617, PMID:22249839, PMID:22527033, PMID:22784462, PMID:22969264, PMID:23441182, PMID:23771276, PMID:23831250, PMID:23934111, PMID:23961289, PMID:24270521, PMID:24486772, PMID:24498617, PMID:24849341, PMID:25266619, PMID:25274239, PMID:25326635, PMID:25735478, PMID:25741868, PMID:25758715, PMID:25969684, PMID:26467025, PMID:26814174, PMID:27066515, PMID:27290639, PMID:27476654, PMID:28007337, PMID:28169007, PMID:28492532, PMID:28742085, PMID:28978442, PMID:29056246, PMID:29100083, PMID:30063100, PMID:30283815, PMID:30311386, PMID:97053792 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link
familial hemiplegic migraine 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by OMIM:602481
ClinVar Annotator: match by term: Familial hemiplegic migraine type 2
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9579893, PMID:12539047, PMID:12953268, PMID:15133718, PMID:15159495, PMID:15174025, PMID:15308625, PMID:15459825, PMID:16037212, PMID:16088919, PMID:17435187, PMID:17473835, PMID:17877748, PMID:17952365, PMID:18056581, PMID:18414213, PMID:18728015, PMID:18957371, PMID:20720542, PMID:21533730, PMID:22117059, PMID:23954377, PMID:25138102, PMID:25326635, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr13:90,651,682...90,676,629
Ensembl chr13:90,651,686...90,676,629
JBrowse link
familial hemiplegic migraine 3 term browser
Symbol Object Name Qualifiers 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: Familial hemiplegic migraine type 3
ClinVar Annotator: match by OMIM:609634
OMIM
ClinVar
PMID:1893099, PMID:11254444, PMID:11254445, PMID:11359211, PMID:11940708, PMID:12083760, PMID:12566275, PMID:12610651, PMID:12821740, PMID:14504318, PMID:14738421, PMID:15277634, PMID:16054936, PMID:16458823, PMID:17054684, PMID:17347258, PMID:18021921, PMID:18056581, PMID:18076640, PMID:18413471, PMID:18414213, PMID:18804930, PMID:18930999, PMID:19200853, PMID:19236456, PMID:19332696, PMID:19359143, PMID:19522081, PMID:19589774, PMID:20522430, PMID:20600615, PMID:20729507, PMID:20879882, PMID:21248271, PMID:21396429, PMID:21713554, PMID:21719429, PMID:22011963, PMID:22050978, PMID:22071555, PMID:22150645, PMID:22409937, PMID:22550089, PMID:22612257, PMID:22780858, PMID:23195492, PMID:23398611, PMID:23884151, PMID:23895530, PMID:23934111, PMID:24066114, PMID:24136861, PMID:24168886, PMID:24337656, PMID:24464349, PMID:25243660, PMID:25326635, PMID:25348405, PMID:25401298, PMID:25741868, PMID:26096185, PMID:26169758, PMID:26467025, PMID:26544041, PMID:26699486, PMID:26845707, PMID:26990884, PMID:27231140, PMID:27236449, PMID:27864847, PMID:28079314, PMID:28148630, PMID:28202706, PMID:28492532, PMID:29100083, PMID:29358611, PMID:29852413, PMID:30311386, PMID:30619928, PMID:31791873, PMID:32581362 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
Sporadic Hemiplegic Migraine term browser
Symbol Object Name Qualifiers 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, sporadic hemiplegic ClinVar PMID:10408534, PMID:10734061, PMID:11176968, PMID:11439943, PMID:12056940, PMID:12707077, PMID:17142831, PMID:18056581, PMID:22527033, PMID:24486772, PMID:24498617, PMID:25969684, PMID:26467025 NCBI chr19:25,453,236...25,749,550
Ensembl chr19:25,526,751...25,749,550
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            Headache Disorders 52
              Primary Headache Disorders 52
                migraine 52
                  migraine with aura 12
                    Sporadic Hemiplegic Migraine 1
                    familial hemiplegic migraine + 6
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.