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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:Impaired sensitivity to thyroid hormone
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Accession:HP:0002930 term browser browse the term
Definition:Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone.
Comment:Impaired sensitivity to thyroid hormone may be accompanied by goiter and no clear symptoms and signs of thyrotoxicosis. The etiologies of this feature include defects in the thyroid hormone receptor, reduced cellular access of the biologically active thyroid hormone, T3 related to defects of thyroid hormone cell membrane transport, and a defect reducing the intracellular metabolism generating T3 from T4.
Synonyms:exact_synonym: Elevated serum levels of free thyroid hormone with nonsuppressed TSH;   End-organ unresponsiveness to thyroid hormone;   Resistance to thyroid hormone;   Thyroid hormone receptor defect;   Thyroid hormone resistance
 alt_id: HP:0008215;   HP:0008243;   HP:0008262
 xref: MESH:D018382;   SNOMEDCT_US:111567006;   SNOMEDCT_US:237559000;   SNOMEDCT_US:237560005;   SNOMEDCT_US:50375007;   UMLS:C2940786

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Impaired sensitivity to thyroid hormone term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
G H THRB thyroid hormone receptor beta IAGP ClinVar Annotator: match by term: Impaired sensitivity to thyroid hormone ClinVar
HPO		 PMID:1400869 PMID:1548332 PMID:8013151 PMID:20808683 OMIM:145650 OMIM:188570 OMIM:274300 NCBI chr 3:24,117,153...24,495,708
Ensembl chr 3:24,117,153...24,495,756 		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
        Abnormality of the thyroid gland 561
          Abnormality of thyroid physiology 430
            Impaired sensitivity to thyroid hormone 2
paths to the root