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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Hyperthyroidism
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Accession:HP:0000836 term browser browse the term
Definition:An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).
Synonyms:exact_synonym: Overactive thyroid
 alt_id: HP:0008241
 xref: EFO:0009189;   MESH:D006980;   SNOMEDCT_US:34486009;   UMLS:C0020550



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Hyperthyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 IAGP HPO OMIM:615109 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751
JBrowse link
G ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
JBrowse link
G BTNL2 butyrophilin like 2 IAGP HPO ORPHA:797 NCBI chr 6:32,393,339...32,407,181
Ensembl chr 6:32,393,339...32,407,181
JBrowse link
G CACNA1S calcium voltage-gated channel subunit alpha1 S IAGP HPO OMIM:188580 ORPHA:79102 NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451
JBrowse link
G CDH23 cadherin related 23 IAGP HPO ORPHA:91347 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G COMT catechol-O-methyltransferase IAGP HPO ORPHA:567 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G CTLA4 cytotoxic T-lymphocyte associated protein 4 IAGP associated with Graves Disease;DNA:polymorphism:exon:49G>A(human) RGD PMID:10404810 RGD:11352245 NCBI chr 2:203,867,771...203,873,965
Ensembl chr 2:203,853,888...203,873,965
JBrowse link
G DICER1 dicer 1, ribonuclease III IAGP HPO ORPHA:276399 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010
JBrowse link
G FMR1 fragile X messenger ribonucleoprotein 1 IAGP HPO ORPHA:449291 NCBI chr  X:147,911,919...147,951,125
Ensembl chr  X:147,911,919...147,951,125
JBrowse link
G FOXP3 forkhead box P3 IAGP HPO ORPHA:37042 NCBI chr  X:49,250,438...49,264,710
Ensembl chr  X:49,250,438...49,264,800
JBrowse link
G GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 IAGP HPO ORPHA:79102 NCBI chr  X:152,166,234...152,451,315
Ensembl chr  X:152,166,234...152,451,315
JBrowse link
G GNAS GNAS complex locus IAGP HPO OMIM:174800 ORPHA:562 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:567 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
JBrowse link
G HIRA histone cell cycle regulator IAGP HPO ORPHA:567 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
JBrowse link
G HLA-B major histocompatibility complex, class I, B onset
susceptibility
IAGP DNA:polymorphism:cds:HLA-B39
DNA:polymorphism:cds:HLA-B8
DNA:polymorphism, haplotype:cds:HLA-B8
RGD PMID:8894996 PMID:2401095 PMID:8096501 RGD:7365110, RGD:7365118, RGD:7365112 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G HLA-DRB1 major histocompatibility complex, class II, DR beta 1 IAGP HPO ORPHA:797 NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
JBrowse link
G IL17A interleukin 17A susceptibility IAGP DNA:snp:intron:IVS1+18G>A (rs3819025) RGD PMID:22816799 RGD:9068423 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
JBrowse link
G KCNJ18 potassium inwardly rectifying channel subfamily J member 18 IAGP HPO OMIM:613239 ORPHA:79102 NCBI chr17:21,692,523...21,704,612
Ensembl chr17:21,692,523...21,704,612
JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO OMIM:170390 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
JBrowse link
G KEAP1 kelch like ECH associated protein 1 IAGP HPO ORPHA:276399 NCBI chr19:10,486,125...10,503,356
Ensembl chr19:10,486,125...10,503,558
JBrowse link
G MSTO1 misato mitochondrial distribution and morphology regulator 1 IAGP HPO OMIM:617675 ORPHA:502423 NCBI chr 1:155,563,246...155,614,967
Ensembl chr 1:155,563,235...155,614,951
JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha IAGP HPO OMIM:615108 NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP HPO ORPHA:254892 NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861
JBrowse link
G POLG2 DNA polymerase gamma 2, accessory subunit IAGP HPO ORPHA:254892 NCBI chr17:64,477,785...64,497,054
Ensembl chr17:64,477,785...64,497,054
JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO ORPHA:3455 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522
JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO OMIM:158350 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP HPO ORPHA:567 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP HPO ORPHA:254892 NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961
JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP HPO ORPHA:567 NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161
JBrowse link
G SLC25A4 solute carrier family 25 member 4 IAGP HPO ORPHA:254892 NCBI chr 4:185,143,266...185,150,382
Ensembl chr 4:185,143,266...185,150,382
JBrowse link
G SUGCT succinyl-CoA:glutarate-CoA transferase IAGP HPO OMIM:231690 NCBI chr 7:40,135,005...41,038,816
Ensembl chr 7:40,135,005...40,860,763
JBrowse link
G TBCK TBC1 domain containing kinase IAGP HPO ORPHA:488632 NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683
JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO ORPHA:567 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
JBrowse link
G THRB thyroid hormone receptor beta IAGP HPO OMIM:145650 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756
JBrowse link
G TSHR thyroid stimulating hormone receptor IAGP HPO OMIM:603373 OMIM:609152 ORPHA:424 ORPHA:99819 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306
JBrowse link
G TWNK twinkle mtDNA helicase IAGP HPO ORPHA:254892 NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403
JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP HPO ORPHA:567 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
JBrowse link
Graves disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1S calcium voltage-gated channel subunit alpha1 S IAGP HPO ORPHA:79102 NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451
JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP HPO ORPHA:358 NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311
JBrowse link
G GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 IAGP HPO ORPHA:79102 NCBI chr  X:152,166,234...152,451,315
Ensembl chr  X:152,166,234...152,451,315
JBrowse link
G KCNJ18 potassium inwardly rectifying channel subfamily J member 18 IAGP HPO ORPHA:79102 NCBI chr17:21,692,523...21,704,612
Ensembl chr17:21,692,523...21,704,612
JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP HPO ORPHA:358 NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850
JBrowse link
Thyroid crisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH23 cadherin related 23 IAGP HPO ORPHA:91347 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
Thyrotoxicosis with diffuse goiter term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1S calcium voltage-gated channel subunit alpha1 S IAGP HPO ORPHA:79102 NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451
JBrowse link
G GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 IAGP HPO ORPHA:79102 NCBI chr  X:152,166,234...152,451,315
Ensembl chr  X:152,166,234...152,451,315
JBrowse link
G HLA-B major histocompatibility complex, class I, B susceptibility IAGP DNA:polymorphism:cds:HLA-B*46 RGD PMID:23329888 RGD:7365094 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067
JBrowse link
G KCNJ18 potassium inwardly rectifying channel subfamily J member 18 IAGP HPO ORPHA:79102 NCBI chr17:21,692,523...21,704,612
Ensembl chr17:21,692,523...21,704,612
JBrowse link
G TSHR thyroid stimulating hormone receptor IAGP HPO ORPHA:424 ORPHA:99819 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306
JBrowse link
Thyrotoxicosis with toxic multinodular goiter term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1S calcium voltage-gated channel subunit alpha1 S IAGP HPO ORPHA:79102 NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451
JBrowse link
G GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 IAGP HPO ORPHA:79102 NCBI chr  X:152,166,234...152,451,315
Ensembl chr  X:152,166,234...152,451,315
JBrowse link
G KCNJ18 potassium inwardly rectifying channel subfamily J member 18 IAGP HPO ORPHA:79102 NCBI chr17:21,692,523...21,704,612
Ensembl chr17:21,692,523...21,704,612
JBrowse link
Thyrotoxicosis with toxic single thyroid nodule term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1S calcium voltage-gated channel subunit alpha1 S IAGP HPO ORPHA:79102 NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451
JBrowse link
G GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 IAGP HPO ORPHA:79102 NCBI chr  X:152,166,234...152,451,315
Ensembl chr  X:152,166,234...152,451,315
JBrowse link
G KCNJ18 potassium inwardly rectifying channel subfamily J member 18 IAGP HPO ORPHA:79102 NCBI chr17:21,692,523...21,704,612
Ensembl chr17:21,692,523...21,704,612
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21508
    Phenotypic abnormality 21499
      Abnormality of the endocrine system 2633
        Abnormality of the thyroid gland 560
          Abnormality of thyroid physiology 429
            Hyperthyroidism 40
              Thyroid crisis 1
              Thyrotoxicosis from ectopic thyroid tissue 0
              Thyrotoxicosis with diffuse goiter + 7
              Thyrotoxicosis with toxic multinodular goiter 3
              Thyrotoxicosis with toxic single thyroid nodule 3
paths to the root