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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:Increased circulating T4 concentration
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Accession:HP:0031506 term browser browse the term
Definition:An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).
Synonyms:exact_synonym: Increased circulating T4 level;   Increased circulating thyroxine level


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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

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 circulating T4 concentration 27
              Increased circulating T4 concentration 6
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 circulating T4 concentration 27
                Increased circulating T4 concentration 6
paths to the root