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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:Abnormal circulating thyroid hormone concentration
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Accession:HP:0031508 term browser browse the term
Definition:Any deviation from the normal range of the hormones produced by the thyroid gland.
Comment:Thyroid hormones (TH) are involved in the regulation of metabolism, proliferation, and growth of most tissues. Serum TH levels are tightly controlled by the hypothalamic, pituitary, and thyroid (HPT) axis to deliver appropriate amounts of TH to target tissues. The two major THs (T3 and T4) are iodothyrosines synthesized by the thyroid gland under the control of thyrotropin/thyroid stimulating hormone (TSH), a glycoprotein heterodimer that is produced by the pituitary gland. TSH, in turn, is regulated by thyrotropin releasing hormone (TRH), a tripeptide generated by the hypothalamus that is released into its own portal system to reach the pituitary. Both the production of TRH and TSH are under negative feedback control determined by the circulating free TH concentrations.
Synonyms:exact_synonym: Abnormal thyroid hormone level

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Abnormal circulating thyroid hormone concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H DUOX2 dual oxidase 2 IAGP ClinVar Annotator: match by term: Abnormal circulating thyroid hormone concentration ClinVar PMID:25741868 PMID:28492532 NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172 		JBrowse link
G H FOCAD focadhesin IAGP HPO OMIM:619991 NCBI chr 9:20,655,625...20,995,950
Ensembl chr 9:20,658,309...20,995,955 		JBrowse link
G H USP9X ubiquitin specific peptidase 9 X-linked IAGP HPO ORPHA:480880 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579 		JBrowse link
Abnormal circulating free T3 concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H TRU-TCA1-1 tRNA-SeC (anticodon TCA) 1-1 IAGP HPO OMIM:620198 NCBI chr19:45,478,601...45,478,687 JBrowse link
Abnormal circulating free T4 concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ALB albumin IAGP HPO OMIM:615999 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482 		JBrowse link
G H TRU-TCA1-1 tRNA-SeC (anticodon TCA) 1-1 IAGP HPO OMIM:620198 NCBI chr19:45,478,601...45,478,687 JBrowse link
Decreased circulating free T3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H MADD MAP kinase activating death domain IAGP HPO OMIM:619004 NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031 		JBrowse link
G H NKX2-5 NK2 homeobox 5 IAGP HPO OMIM:225250 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G H POU1F1 POU class 1 homeobox 1 IAGP HPO OMIM:613038 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G H SECISBP2 SECIS binding protein 2 IAGP HPO OMIM:609698 ORPHA:171706 NCBI chr 9:89,318,500...89,367,117
Ensembl chr 9:89,318,500...89,359,663 		JBrowse link
G H TRHR thyrotropin releasing hormone receptor IAGP HPO ORPHA:99832 NCBI chr 8:109,086,585...109,121,565
Ensembl chr 8:109,086,585...109,121,565 		JBrowse link
Decreased circulating free T4 concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H CPE carboxypeptidase E IAGP HPO OMIM:619326 NCBI chr 4:165,379,008...165,498,547
Ensembl chr 4:165,361,194...165,498,547 		JBrowse link
G H IRS4 insulin receptor substrate 4 IAGP HPO OMIM:301035 NCBI chr  X:108,719,946...108,736,563
Ensembl chr  X:108,719,946...108,736,563 		JBrowse link
G H MADD MAP kinase activating death domain IAGP HPO OMIM:619004 NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031 		JBrowse link
G H NKX2-5 NK2 homeobox 5 IAGP HPO OMIM:225250 NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311 		JBrowse link
G H POU1F1 POU class 1 homeobox 1 IAGP HPO OMIM:613038 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G H TBL1X transducin beta like 1 X-linked IAGP HPO OMIM:301033 NCBI chr  X:9,463,295...9,719,740
Ensembl chr  X:9,463,320...9,741,037 		JBrowse link
Decreased circulating T4 concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ALG8 ALG8 alpha-1,3-glucosyltransferase IAGP HPO OMIM:608104 NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660 		JBrowse link
G H ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166 		JBrowse link
G H DUOX2 dual oxidase 2 IAGP HPO ORPHA:226316 ORPHA:95716 NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172 		JBrowse link
G H DUOXA2 dual oxidase maturation factor 2 IAGP HPO ORPHA:95716 NCBI chr15:45,114,326...45,118,421
Ensembl chr15:45,114,326...45,118,421 		JBrowse link
G H GLIS3 GLIS family zinc finger 3 IAGP HPO OMIM:610199 NCBI chr 9:3,824,127...4,490,465
Ensembl chr 9:3,824,127...4,348,392 		JBrowse link
G H HESX1 HESX homeobox 1 IAGP HPO ORPHA:226307 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G H IYD iodotyrosine deiodinase IAGP HPO ORPHA:95716 NCBI chr 6:150,369,012...150,405,969
Ensembl chr 6:150,368,892...150,405,969 		JBrowse link
G H LHX3 LIM homeobox 3 IAGP HPO ORPHA:226307 NCBI chr 9:136,196,250...136,205,128
Ensembl chr 9:136,196,250...136,205,128 		JBrowse link
G H LHX4 LIM homeobox 4 IAGP HPO ORPHA:226307 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984 		JBrowse link
G H MAGEL2 MAGE family member L2 IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867 		JBrowse link
G H NDN necdin, MAGE family member IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:23,685,400...23,687,305
Ensembl chr15:23,685,400...23,687,305 		JBrowse link
G H OCA2 OCA2 melanosomal transmembrane protein IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:27,719,008...28,099,315
Ensembl chr15:27,754,875...28,099,315 		JBrowse link
G H PAX8 paired box 8 IAGP HPO OMIM:218700 NCBI chr 2:113,215,997...113,278,921
Ensembl chr 2:113,215,997...113,278,921 		JBrowse link
G H POU1F1 POU class 1 homeobox 1 IAGP HPO ORPHA:226307 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G H PROP1 PROP paired-like homeobox 1 IAGP HPO ORPHA:226307 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		JBrowse link
G H SLC5A5 solute carrier family 5 member 5 IAGP HPO ORPHA:95716 NCBI chr19:17,871,945...17,895,174
Ensembl chr19:17,871,945...17,895,174 		JBrowse link
G H SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO ORPHA:177901 ORPHA:177904 ORPHA:98754 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723 		JBrowse link
G H TG thyroglobulin IAGP HPO ORPHA:95716 NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
G H TPO thyroid peroxidase IAGP HPO OMIM:274500 ORPHA:95716 NCBI chr 2:1,374,047...1,543,673
Ensembl chr 2:1,374,066...1,543,711 		JBrowse link
G H TRHR thyrotropin releasing hormone receptor IAGP HPO OMIM:618573 ORPHA:99832 NCBI chr 8:109,086,585...109,121,565
Ensembl chr 8:109,086,585...109,121,565 		JBrowse link
G H TSHB thyroid stimulating hormone subunit beta IAGP HPO OMIM:275100 ORPHA:90674 NCBI chr 1:115,029,826...115,034,309
Ensembl chr 1:115,029,826...115,034,302 		JBrowse link
G H TSHR thyroid stimulating hormone receptor IAGP HPO ORPHA:90673 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
Elevated circulating reverse T3 concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H DIO1 iodothyronine deiodinase 1 IAGP HPO OMIM:619855 NCBI chr 1:53,894,187...53,911,086
Ensembl chr 1:53,891,239...53,911,086 		JBrowse link
G H TRU-TCA1-1 tRNA-SeC (anticodon TCA) 1-1 IAGP HPO OMIM:620198 NCBI chr19:45,478,601...45,478,687 JBrowse link
Elevated circulating rT3/T3 ratio term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H DIO1 iodothyronine deiodinase 1 IAGP HPO OMIM:619855 NCBI chr 1:53,894,187...53,911,086
Ensembl chr 1:53,891,239...53,911,086 		JBrowse link
Increased circulating free T3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ABCB1 ATP binding cassette subfamily B member 1 IAGP associated with Hyperthyroidism RGD PMID:17891478 RGD:8657095 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323 		JBrowse link
G H HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:polymorphism, haplotype:cds:HLA-DQB1*0602
DNA:polymorphism:cds:HLA-DQB1*0602
DNA:polymorphisms:cds:HLA-DQB1*0303, HLA-DQB1*201		 RGD PMID:17194971 PMID:11272094 PMID:10468909 RGD:7421571, RGD:7483568, RGD:7421572 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G H THRB thyroid hormone receptor beta IAGP HPO OMIM:188570 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756 		JBrowse link
G H TRU-TCA1-1 tRNA-SeC (anticodon TCA) 1-1 IAGP HPO OMIM:620198 NCBI chr19:45,478,601...45,478,687 JBrowse link
G H TSHR thyroid stimulating hormone receptor IAGP HPO OMIM:609152 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
Increased circulating free T4 concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ALB albumin IAGP HPO OMIM:615999 NCBI chr 4:73,404,287...73,421,482
Ensembl chr 4:73,397,114...73,421,482 		JBrowse link
G H KCNJ18 potassium inwardly rectifying channel subfamily J member 18 IAGP HPO OMIM:613239 NCBI chr17:21,692,523...21,704,612
Ensembl chr17:21,692,523...21,704,612 		JBrowse link
G H SECISBP2 SECIS binding protein 2 IAGP HPO OMIM:609698 NCBI chr 9:89,318,500...89,367,117
Ensembl chr 9:89,318,500...89,359,663 		JBrowse link
G H THRB thyroid hormone receptor beta IAGP HPO OMIM:188570 OMIM:274300 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756 		JBrowse link
G H TRU-TCA1-1 tRNA-SeC (anticodon TCA) 1-1 IAGP HPO OMIM:620198 NCBI chr19:45,478,601...45,478,687 JBrowse link
Increased circulating T4 concentration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H ESR2 estrogen receptor 2 susceptibility IAGP DNA:snp:intron:IVS8G>A (rs4986938) RGD PMID:17941906 RGD:8693348 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		JBrowse link
G H HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 susceptibility IAGP DNA:polymorphism, haplotype:cds:HLA-DQB1*0602
DNA:polymorphisms:cds:HLA-DQB1*0303, HLA-DQB1*201
DNA:polymorphism:cds:HLA-DQB1*0602 		RGD PMID:17194971 PMID:10468909 PMID:11272094 RGD:7421571, RGD:7421572, RGD:7483568 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G H KCNJ18 potassium inwardly rectifying channel subfamily J member 18 IAGP HPO OMIM:613239 NCBI chr17:21,692,523...21,704,612
Ensembl chr17:21,692,523...21,704,612 		JBrowse link
G H SECISBP2 SECIS binding protein 2 IAGP HPO OMIM:609698 ORPHA:171706 NCBI chr 9:89,318,500...89,367,117
Ensembl chr 9:89,318,500...89,359,663 		JBrowse link
G H THRB thyroid hormone receptor beta IAGP HPO OMIM:274300 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756 		JBrowse link
G H TSHR thyroid stimulating hormone receptor IAGP HPO OMIM:603373 OMIM:609152 NCBI chr14:80,955,621...81,146,306
Ensembl chr14:80,954,989...81,146,306 		JBrowse link
Increased T3/T4 ratio term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H TG thyroglobulin IAGP HPO OMIM:274700 NCBI chr 8:132,866,958...133,134,899
Ensembl chr 8:132,866,958...133,134,903 		JBrowse link
G H THRA thyroid hormone receptor alpha IAGP HPO OMIM:614450 NCBI chr17:40,062,193...40,093,867
Ensembl chr17:40,058,290...40,093,867 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of the endocrine system 2652
        Abnormal circulating hormone concentration 551
          Abnormal circulating thyroid hormone concentration 39
            Abnormal T3/T4 ratio + 2
            Abnormal circulating T4 concentration + 27
            Abnormal circulating free T3 concentration + 10
            Abnormal circulating free T4 concentration + 11
            Elevated circulating rT3/T3 ratio 1
            Elevated circulating reverse T3 concentration 2
Path 2
Term Annotations click to browse term
  Human phenotype 21568
    Phenotypic abnormality 21558
      Abnormality of the endocrine system 2652
        Abnormality of the thyroid gland 561
          Abnormality of thyroid physiology 430
            Abnormal circulating thyroid hormone concentration 39
              Abnormal T3/T4 ratio + 2
              Abnormal circulating T4 concentration + 27
              Abnormal circulating free T3 concentration + 10
              Abnormal circulating free T4 concentration + 11
              Elevated circulating rT3/T3 ratio 1
              Elevated circulating reverse T3 concentration 2
paths to the root