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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:Primary hyperparathyroidism
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Accession:HP:0008200 term browser browse the term
Definition:A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia.
Synonyms:alt_id: HP:0008254
 xref: MESH:D049950;   SNOMEDCT_US:36348003;   UMLS:C0221002


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Primary hyperparathyroidism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP2S1 adaptor related protein complex 2 subunit sigma 1 IAGP HPO OMIM:600740 NCBI chr19:46,838,167...46,850,846
Ensembl chr19:46,838,136...46,850,846 		JBrowse link
G ARMC5 armadillo repeat containing 5 IAGP HPO ORPHA:189427 NCBI chr16:31,458,304...31,467,167
Ensembl chr16:31,458,080...31,467,166 		JBrowse link
G CASR calcium sensing receptor IAGP HPO OMIM:239200 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CDC73 cell division cycle 73 IAGP HPO OMIM:145000 ORPHA:143 ORPHA:99879 ORPHA:99880 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815 		JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP HPO ORPHA:652 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,337 		JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar
HPO		 PMID:3328816 PMID:21289244 PMID:25741868 PMID:26762354 PMID:26989398 More... OMIM:610755 ORPHA:652 NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,685,498...12,722,369 		JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP HPO ORPHA:652 NCBI chr 9:22,002,903...22,009,313
Ensembl chr 9:22,002,903...22,009,305 		JBrowse link
G CDKN2C cyclin dependent kinase inhibitor 2C IAGP HPO ORPHA:652 NCBI chr 1:50,968,706...50,974,634
Ensembl chr 1:50,960,745...50,974,634 		JBrowse link
G GCM2 glial cells missing transcription factor 2 IAGP HPO OMIM:617343 ORPHA:99879 NCBI chr 6:10,873,223...10,882,041
Ensembl chr 6:10,873,223...10,882,041 		JBrowse link
G GNA11 G protein subunit alpha 11 IAGP HPO OMIM:145981 NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999 		JBrowse link
G GNAS GNAS complex locus IAGP HPO ORPHA:189427 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G MEN1 menin 1 IAGP ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar
HPO		 PMID:564891 PMID:9215689 PMID:18775714 PMID:22703879 PMID:24997771 More... ORPHA:652 ORPHA:97279 ORPHA:99879 NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294 		JBrowse link
G PTH parathyroid hormone IAGP ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:1425431 PMID:18784115 PMID:25741868 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		JBrowse link
G YY1 YY1 transcription factor IAGP HPO ORPHA:97279 NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21554
    Phenotypic abnormality 21544
      Abnormality of the endocrine system 2645
        Abnormality of the parathyroid gland 1091
          Abnormality of the parathyroid physiology 78
            Hyperparathyroidism 31
              Primary hyperparathyroidism 14
paths to the root