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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:Activating thyroid-stimulating hormone receptor defect
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Accession:HP:0011790 term browser browse the term
Definition:Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect.
Synonyms:exact_synonym: Activating TSHR defect
 xref: UMLS:C4023188

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Activating thyroid-stimulating hormone receptor defect term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H 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
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 stimulating hormone 1
              Activating thyroid-stimulating hormone receptor defect 1
paths to the root