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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:Pseudohypoparathyroidism
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Accession:HP:0000852 term browser browse the term
Definition:A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone.
Synonyms:xref: SNOMEDCT_US:58976002;   UMLS:C0033806


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Pseudohypoparathyroidism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAS GNAS complex locus IAGP ClinVar Annotator: match by term: Pseudohypoparathyroidism ClinVar
HPO		 PMID:219790 PMID:1505964 PMID:2109828 PMID:2122458 PMID:8388883 More... MIM:103580 MIM:603233 MIM:612462 MIM:612463 ORPHA:79443 ORPHA:79444 ORPHA:94089 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G GNAS-AS1 GNAS antisense RNA 1 IAGP HPO MIM:603233 NCBI chr20:58,818,918...58,850,902
Ensembl chr20:58,818,893...58,855,296 		JBrowse link
G PRMT7 protein arginine methyltransferase 7 IAGP HPO MIM:617157 ORPHA:464288 NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852 		JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP ClinVar Annotator: match by term: Pseudohypoparathyroidism ClinVar PMID:25741868 PMID:35846276 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G STX16 syntaxin 16 IAGP HPO MIM:603233 ORPHA:94089 NCBI chr20:58,651,283...58,679,526
Ensembl chr20:58,651,272...58,679,526 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Abnormality of the endocrine system 3115
        Abnormality of the parathyroid gland 1101
          Abnormality of the parathyroid physiology 87
            Pseudohypoparathyroidism 5
paths to the root