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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:Hyperparathyroidism
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Accession:HP:0000843 term browser browse the term
Definition:Excessive production of parathyroid hormone (PTH) by the parathyroid glands.
Synonyms:exact_synonym: Elevated blood parathyroid hormone level
 xref: MSH:D006961;   SNOMEDCT_US:66999008;   UMLS:C0020502


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Hyperparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG2 actin gamma 2, smooth muscle IAGP ORPHA:2604 HPO NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865
JBrowse link
G CASR calcium sensing receptor IAGP OMIM:145980 HPO NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,683...122,291,629
Ensembl chr 3:122,183,683...122,291,629
JBrowse link
G CDC73 cell division cycle 73 IAGP OMIM:145001 OMIM:608266 HPO NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,958...193,254,815
Ensembl chr 1:193,121,958...193,254,815
JBrowse link
G CDKN1A cyclin dependent kinase inhibitor 1A IAGP ORPHA:652 HPO NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,339
Ensembl chr 6:36,676,460...36,687,339
JBrowse link
G CDKN1B cyclin dependent kinase inhibitor 1B IAGP ORPHA:276152 ORPHA:652 HPO NCBI chr12:12,717,368...12,722,369
Ensembl chr12:12,715,058...12,722,369
JBrowse link
G CDKN2B cyclin dependent kinase inhibitor 2B IAGP ORPHA:652 HPO 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 ORPHA:652 HPO NCBI chr 1:50,968,706...50,974,634
Ensembl chr 1:50,960,745...50,974,634
JBrowse link
G FOXI1 forkhead box I1 IAGP ORPHA:705 HPO NCBI chr 5:170,105,897...170,109,737
Ensembl chr 5:170,105,897...170,109,734
JBrowse link
G GNAS GNAS complex locus IAGP OMIM:174800 ORPHA:562 HPO NCBI chr20:58,839,681...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G HLA-B major histocompatibility complex, class I, B susceptibility IAGP DNA:polymorphism, haplotype:cds:HLA-B*5801 RGD PMID:12694583 RGD:7365098 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,269,491...31,357,188
JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP ORPHA:705 HPO NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,160
JBrowse link
G MEN1 menin 1 IAGP ORPHA:652 HPO NCBI chr11:64,803,514...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP ORPHA:534 HPO NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561
JBrowse link
G RET ret proto-oncogene IAGP OMIM:171400 HPO NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
G SLC12A1 solute carrier family 12 member 1 IAGP OMIM:601678 HPO NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078
JBrowse link
G SLC26A4 solute carrier family 26 member 4 IAGP ORPHA:705 HPO NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809
JBrowse link
G VDR vitamin D receptor IAGP ORPHA:93160
associated with Hereditary Vitamin D-Resistant Rickets; DNA:missense mutations,nonsense mutation:exon,splice junction:
HPO PMID:24246681 RGD:13210778 NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link
Primary hyperparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP2S1 adaptor related protein complex 2 subunit sigma 1 IAGP OMIM:600740 HPO NCBI chr19:46,838,167...46,850,846
Ensembl chr19:46,838,136...46,850,992
Ensembl chr19:46,838,136...46,850,992
JBrowse link
G CASR calcium sensing receptor IAGP OMIM:239200 HPO NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,683...122,291,629
Ensembl chr 3:122,183,683...122,291,629
JBrowse link
G CDC73 cell division cycle 73 IAGP OMIM:145000 ORPHA:143 ORPHA:99879 ORPHA:99880 HPO NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,958...193,254,815
Ensembl chr 1:193,121,958...193,254,815
JBrowse link
G GCM2 glial cells missing transcription factor 2 IAGP OMIM:617343 ORPHA:99879 HPO NCBI chr 6:10,873,223...10,882,041
Ensembl 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 OMIM:145981 HPO NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999
JBrowse link
G MEN1 menin 1 IAGP ORPHA:97279 ORPHA:99879 HPO NCBI chr11:64,803,514...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
Secondary hyperparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 IAGP OMIM:264700 ORPHA:289157 HPO NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986
JBrowse link
G CYP2R1 cytochrome P450 family 2 subfamily R member 1 IAGP ORPHA:289157 HPO NCBI chr11:14,877,440...14,898,915
Ensembl chr11:14,877,440...14,892,252
JBrowse link
G DMPK DM1 protein kinase IAGP ORPHA:273 HPO NCBI chr19:45,769,709...45,782,490
Ensembl chr19:45,769,717...45,782,552
Ensembl chr19:45,769,717...45,782,552
JBrowse link
G VDR vitamin D receptor IAGP OMIM:277440 HPO NCBI chr12:47,841,537...47,905,022
Ensembl chr12:47,841,537...47,943,048
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 6131
    Phenotypic abnormality 6127
      Abnormality of the endocrine system 1195
        Abnormality of the parathyroid gland 83
          Abnormality of the parathyroid physiology 72
            Hyperparathyroidism 23
              Primary hyperparathyroidism 6
              Secondary hyperparathyroidism 4
              Tertiary hyperparathyroidism 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.