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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:Headache Disorders
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Accession:DOID:9007953 term browser browse the term
Definition:Various conditions with the symptom of HEADACHE. Headache disorders are classified into major groups, such as PRIMARY HEADACHE DISORDERS (based on characteristics of their headache symptoms) and SECONDARY HEADACHE DISORDERS (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)
Synonyms:exact_synonym: Cephalgia Syndrome;   Cephalgia Syndromes;   Chronic Daily Headache;   Chronic Daily Headaches;   Chronic Headache;   Chronic Headaches;   Headache Disorder;   Headache Syndrome;   Headache Syndromes;   Intractable Headache;   Intractable Headaches
 primary_id: MESH:D020773;   RDO:0007428
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Familial Basilar 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 ClinVar Annotator: match by null ClinVar PMID:16344534 NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		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 ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:9536098 PMID:11439943 PMID:12023326 PMID:12539047 PMID:14667076 More... NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISS
ISO		 OMIM:141500 | OMIM:300125 | OMIM:602481 | OMIM:607516 | OMIM:609634
ClinVar Annotator: match by term: Familial hemiplegic migraine		 MouseDO
ClinVar		 PMID:8734765 PMID:8898206 PMID:9488686 PMID:9566402 PMID:9915947 More... NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Igsf8 immunoglobulin superfamily, member 8 ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:28492532 NCBI chr13:84,770,348...84,781,534
Ensembl chr13:84,770,279...84,778,576 		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 chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461 		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 chr13:84,780,826...84,787,928
Ensembl chr13:84,779,741...84,787,928 		JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Familial hemiplegic migraine ClinVar PMID:20301562 PMID:25741868 PMID:26467025 PMID:28012175 PMID:28492532 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		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 term: Migraine, sporadic hemiplegic
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 Annotator: match by OMIM:141500		 OMIM
ClinVar
CTD		 PMID:7537420 PMID:8734765 PMID:8898206 PMID:9488686 PMID:9566402 More... NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		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:9536098 PMID:9579893 PMID:12539047 PMID:12953268 PMID:15133718 More... NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		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 More... NCBI chr 3:50,952,790...51,071,804
Ensembl chr 3:50,952,791...51,071,699 		JBrowse link
migraine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Migraine ClinVar PMID:15070707 PMID:16030099 PMID:16758124 PMID:17020472 PMID:18783588 More... NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO DNA:missense mutation:cds:p.E1015K(human)
ClinVar Annotator: match by term: Migraine		 ClinVar
RGD		 PMID:22249839 PMID:25741868 PMID:27959697 PMID:28007337 PMID:28492532 More... RGD:10054426 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Calca calcitonin-related polypeptide alpha no_association ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:12574409 PMID:17635592 PMID:21195698 PMID:20959432 RGD:5684017, RGD:5684020 NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105 		JBrowse link
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Migraine headaches ClinVar PMID:7720071 PMID:9266733 PMID:10330340 PMID:10679950 PMID:14578192 More... NCBI chr 3:107,407,518...107,457,858
Ensembl chr 3:107,407,850...107,457,858 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum RGD PMID:21331754 RGD:5490597 NCBI chr  X:135,127,119...135,138,302
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Clcn1 chloride voltage-gated channel 1 ISO ClinVar Annotator: match by term: Migraine ClinVar PMID:8533761 PMID:8845168 PMID:10737121 PMID:12163078 PMID:25741868 More... NCBI chr 4:71,171,949...71,201,483
Ensembl chr 4:71,172,547...71,199,984 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Migraine Disorders ClinVar PMID:21606396 PMID:23292937 PMID:23861362 PMID:24033266 PMID:24503780 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		JBrowse link
G Ednra endothelin receptor type A susceptibility ISO DNA:polymorphism:-231A>G
ClinVar Annotator: match by term: Migraine, resistance to
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:11376172 PMID:23058564 PMID:11376172 RGD:734916 NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049 		JBrowse link
G Esr1 estrogen receptor 1 susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 PMID:15133719 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Fhl5 four and a half LIM domains 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23793025 NCBI chr 5:38,907,941...38,956,759
Ensembl chr 5:38,907,946...38,956,552 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:12482207 NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928 		JBrowse link
G Htr7 5-hydroxytryptamine receptor 7 IMP RGD PMID:20236348 RGD:6482182 NCBI chr 1:233,636,442...233,761,063
Ensembl chr 1:233,636,452...233,760,626 		JBrowse link
G Lrp1 LDL receptor related protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21666692 NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910 		JBrowse link
G Maoa monoamine oxidase A no_association ISO RGD PMID:15088153 RGD:1600725 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Migraine ClinVar PMID:25741868 NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243 		JBrowse link
G Mfn1 mitofusin 1 IEP protein:decreased expression:trigeminal ganglion (rat) RGD PMID:27984195 RGD:12910755 NCBI chr 2:115,313,380...115,359,651
Ensembl chr 2:115,313,401...115,359,640 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T(human) RGD PMID:21635773 RGD:7387244 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO associated with Glaucoma;DNA:snp, haplotype:promoter:g.-786T>C (human) RGD PMID:16123422 RGD:7771539 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Migraine ClinVar PMID:25741868 NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		JBrowse link
G Nppb natriuretic peptide B ISO protein:increased expression:serum RGD PMID:22165670 RGD:5685652 NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168 		JBrowse link
G Ppox protoporphyrinogen oxidase ISO ClinVar Annotator: match by term: Migraine ClinVar PMID:25741868 NCBI chr13:83,697,661...83,701,998
Ensembl chr13:83,664,891...83,701,805 		JBrowse link
G Prdm16 PR/SET domain 16 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21666692 NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Migraine Disorders ClinVar PMID:11804990 PMID:19056759 PMID:22581653 PMID:24033266 PMID:25741868 More... NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769 		JBrowse link
G Slc2a1 solute carrier family 2 member 1 ISO ClinVar Annotator: match by term: Migraine ClinVar PMID:25741868 NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416 		JBrowse link
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Migraine ClinVar PMID:25741868 NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363 		JBrowse link
G Sugct succinylCoA:glutarate-CoA transferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:23793025 NCBI chr17:47,376,392...48,234,362
Ensembl chr17:47,376,521...48,234,376 		JBrowse link
G Tab2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 ISO ClinVar Annotator: match by term: Migraine ClinVar PMID:25741868 NCBI chr 1:2,375,026...2,424,759
Ensembl chr 1:2,375,490...2,424,756 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16885183 NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		JBrowse link
G Tnf tumor necrosis factor susceptibility ISO CTD Direct Evidence: marker/mechanism CTD
OMIM		 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Trpm8 transient receptor potential cation channel, subfamily M, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21666692 NCBI chr 9:88,897,039...88,990,167
Ensembl chr 9:88,903,880...88,988,552 		JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO DNA:snp:intron:g.IVS2+2841C>T rs222741 (human) RGD PMID:22162417 RGD:7175557 NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513 		JBrowse link
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 chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO DNA:mutation:cds:P.V1457L(human) RGD PMID:10408532 RGD:10054422 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Dbh dopamine beta-hydroxylase ISO DNA:insertion, deletion:5' utr:g.-4767+?--4688-? (human) RGD PMID:17095019 RGD:1625569 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248 		JBrowse link
G Drd2 dopamine receptor D2 ISO DNA:snp:cds:p.H313H (human) RGD PMID:9513185 RGD:1358603 NCBI chr 8:49,708,903...49,772,888
Ensembl chr 8:49,708,927...49,772,875 		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 1:258,374,671...258,388,945
Ensembl chr 1:258,374,671...258,388,945 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T(human) RGD PMID:21635773 RGD:7387244 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Migraine with aura ClinVar PMID:32581362 NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		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 chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296 		JBrowse link
migraine without aura term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Astn2 astrotactin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22683712 NCBI chr 5:78,758,142...79,744,021
Ensembl chr 5:78,758,142...79,748,273 		JBrowse link
G Calca calcitonin-related polypeptide alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:11304026 PMID:14659530 NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105 		JBrowse link
G Eno2 enolase 2 ISO protein:increased expression:serum RGD PMID:21293918 RGD:5508769 NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980 		JBrowse link
G Ldlr low density lipoprotein receptor ISO DNA:repeat:exon (human) RGD PMID:12873747 RGD:5490245 NCBI chr 8:20,270,020...20,292,981
Ensembl chr 8:20,270,041...20,294,580 		JBrowse link
G Lrp1 LDL receptor related protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22683712 NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910 		JBrowse link
G Mef2d myocyte enhancer factor 2D ISO CTD Direct Evidence: marker/mechanism CTD PMID:22683712 NCBI chr 2:173,606,054...173,635,620
Ensembl chr 2:173,606,490...173,634,457 		JBrowse link
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Migraine without aura ClinVar PMID:8878478 PMID:9388399 PMID:12754354 PMID:15229130 PMID:15857853 More... NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		JBrowse link
G Phactr1 phosphatase and actin regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22683712 NCBI chr17:21,560,364...22,040,166 JBrowse link
G S100b S100 calcium binding protein B ISO protein:increased expression:serum RGD PMID:21293918 RGD:5508769 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743 		JBrowse link
G Tac1 tachykinin, precursor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11304026 NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178 		JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:14718719 RGD:1580316 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Trpm8 transient receptor potential cation channel, subfamily M, member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22683712 NCBI chr 9:88,897,039...88,990,167
Ensembl chr 9:88,903,880...88,988,552 		JBrowse link
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpk1 alpha-kinase 1 ISO ClinVar Annotator: match by term: Splenomegaly, cytopenia, and vision loss OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30967659 PMID:31053777 PMID:31939038 NCBI chr 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157 		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 More... NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
Stormorken syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stim1 stromal interaction molecule 1 ISO ClinVar Annotator: match by term: Stormorken syndrome OMIM
ClinVar		 PMID:4085141 PMID:9536098 PMID:12623447 PMID:12745453 PMID:12944247 More... NCBI chr 1:156,656,246...156,818,777
Ensembl chr 1:156,656,013...156,818,363 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            Headache Disorders 48
              Headache Disorders, Secondary + 0
              Primary Headache Disorders + 48
paths to the root