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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:hyperparathyroidism
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Accession:DOID:13543 term browser browse the term
Definition:A condition of abnormally elevated output of PARATHYROID HORMONE (or PTH) triggering responses that increase blood CALCIUM. It is characterized by HYPERCALCEMIA and BONE RESORPTION, eventually leading to bone diseases. PRIMARY HYPERPARATHYROIDISM is caused by parathyroid HYPERPLASIA or PARATHYROID NEOPLASMS. SECONDARY HYPERPARATHYROIDISM is increased PTH secretion in response to HYPOCALCEMIA, usually caused by chronic KIDNEY DISEASES.
Synonyms:primary_id: MESH:D006961
 alt_id: RDO:0001981
 xref: ICD10CM:E21.3;   ICD9CM:252.0;   NCI:C48259;   OMIM:PS145000;   ORDO:99879
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hyperparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9011580, PMID:11589681, PMID:12671052 RGD:734698 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
G Ccnd1 cyclin D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21541686 NCBI chr 1:218,090,750...218,100,447
Ensembl chr 1:218,090,750...218,100,325
JBrowse link
G Cdc73 cell division cycle 73 ISO
ISS
Hyperparathyroidism-Jaw Tumor Syndrome, Hereditary, OMIM:145001
OMIM:145000 | OMIM:145001 | OMIM:610071
MouseDO PMID:12434154 RGD:1599666 NCBI chr13:60,403,771...60,496,511
Ensembl chr13:60,403,771...60,496,511
JBrowse link
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 ISO RGD PMID:11416220 RGD:734871 NCBI chr 7:70,333,150...70,340,006
Ensembl chr 7:70,335,061...70,340,005
JBrowse link
G Men1 menin 1 ISO
ISS
DNA:SNPs: :multiple
ClinVar Annotator: match by term: Hyperparathyroidism
OMIM:145000 | OMIM:145001 | OMIM:610071
ClinVar
MouseDO
PMID:9103196, PMID:9215689, PMID:9407947, PMID:9463336, PMID:9683585, PMID:9888389, PMID:9935177, PMID:10090472, PMID:10634422, PMID:10647896, PMID:10759881, PMID:10843194, PMID:10918183, PMID:11807402, PMID:12652570, PMID:15670192, PMID:16322378, PMID:16563611, PMID:17590169, PMID:17623761, PMID:17879353, PMID:17953629, PMID:20833329, PMID:21819486, PMID:22187299, PMID:22703879, PMID:23321498, PMID:23933118, PMID:24033266, PMID:24728327, PMID:24997771, PMID:25309785, PMID:25637381, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30630164, PMID:30820182, PMID:16563611 RGD:2317347 NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO mRNA:increased expression:parathyroid gland (human) RGD PMID:17047023 RGD:7207778 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240
JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11014383 NCBI chr 8:118,984,531...119,012,803
Ensembl chr 8:118,988,053...119,012,671
JBrowse link
G Trpv6 transient receptor potential cation channel, subfamily V, member 6 ISO ClinVar Annotator: match by term: Hyperparathyroidism ClinVar PMID:25741868, PMID:30144375 NCBI chr 4:70,918,631...70,934,291
Ensembl chr 4:70,918,632...70,934,295
JBrowse link
Familial Cystic Parathyroid Adenomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by term: Cystic parathyroid adenoma ClinVar PMID:12434154 NCBI chr13:60,403,771...60,496,511
Ensembl chr13:60,403,771...60,496,511
JBrowse link
Hyperparathyroidism 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt2 Beta-1,3-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr13:60,435,946...60,444,957
Ensembl chr13:60,435,946...60,444,957
JBrowse link
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Hyperparathyroidism 1
ClinVar
OMIM
PMID:12434154, PMID:12960210, PMID:14585940, PMID:14715834, PMID:15531515, PMID:16061557, PMID:17065424, PMID:20052758, PMID:21681106, PMID:25741868, PMID:28492532, PMID:28774260 NCBI chr13:60,403,771...60,496,511
Ensembl chr13:60,403,771...60,496,511
JBrowse link
G Glrx2 glutaredoxin 2 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr13:60,529,057...60,552,115
Ensembl chr13:60,529,932...60,537,916
JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Familial isolated hyperparathyroidism
ClinVar PMID:15292357, PMID:25741868 NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
G Rgs1 regulator of G-protein signaling 1 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr13:61,066,196...61,070,772
Ensembl chr13:61,066,153...61,070,599
JBrowse link
G Rgs13 regulator of G-protein signaling 13 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr13:60,970,172...61,004,260
Ensembl chr13:60,970,247...61,003,744
JBrowse link
G Rgs18 regulator of G-protein signaling 18 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr13:61,564,381...61,591,139
Ensembl chr13:61,565,483...61,591,139
JBrowse link
G Rgs2 regulator of G-protein signaling 2 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr13:60,846,458...60,849,061
Ensembl chr13:60,846,308...60,849,094
JBrowse link
G Rgs21 regulator of G-protein signaling 21 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr13:61,286,425...61,310,742
Ensembl chr13:61,286,425...61,306,939
JBrowse link
G Ro60 Ro60, Y RNA binding protein ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr13:60,546,892...60,567,882
Ensembl chr13:60,546,912...60,567,882
JBrowse link
G Uchl5 ubiquitin C-terminal hydrolase L5 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106, PMID:28774260 NCBI chr13:60,568,102...60,603,812
Ensembl chr13:60,545,635...60,603,811
JBrowse link
Hyperparathyroidism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt2 Beta-1,3-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Hyperparathyroidism 2 ClinVar PMID:25637381 NCBI chr13:60,435,946...60,444,957
Ensembl chr13:60,435,946...60,444,957
JBrowse link
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Hyperparathyroidism 2
ClinVar Annotator: match by term: HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY
ClinVar
OMIM
PMID:12434154, PMID:12960210, PMID:14585940, PMID:14715834, PMID:15070940, PMID:15613436, PMID:17065424, PMID:20052758, PMID:25637381, PMID:25741868, PMID:28492532 NCBI chr13:60,403,771...60,496,511
Ensembl chr13:60,403,771...60,496,511
JBrowse link
Hyperparathyroidism 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Men1 menin 1 ISO ClinVar Annotator: match by term: Familial isolated hyperparathyroidism ClinVar PMID:25741868 NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
Hyperparathyroidism 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gcm2 glial cells missing transcription factor 2 ISO ClinVar Annotator: match by term: Hyperparathyroidism 4 ClinVar
OMIM
PMID:27745835 NCBI chr17:21,490,402...21,499,516
Ensembl chr17:21,490,402...21,499,516
JBrowse link
Hyperparathyroidism, Neonatal Severe Primary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Neonatal severe hyperparathyroidism
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY
OMIM
ClinVar
CTD
PMID:791660, PMID:1706284, PMID:2211966, PMID:5013415, PMID:6543841, PMID:7054696, PMID:7717399, PMID:7791841, PMID:7916660, PMID:8636323, PMID:8675635, PMID:8702647, PMID:9011580, PMID:9109436, PMID:9253359, PMID:10023897, PMID:10217111, PMID:10912749, PMID:11161843, PMID:11231970, PMID:11248745, PMID:11580999, PMID:11733622, PMID:11807402, PMID:12018449, PMID:12040821, PMID:12052452, PMID:12095982, PMID:12114500, PMID:12239240, PMID:12469911, PMID:12574201, PMID:14508624, PMID:14997007, PMID:15292296, PMID:15531522, PMID:15572418, PMID:15598778, PMID:15751724, PMID:15864123, PMID:15879434, PMID:16497624, PMID:16642557, PMID:17018660, PMID:17117288, PMID:17284438, PMID:17309124, PMID:17320849, PMID:17332735, PMID:17555508, PMID:17698911, PMID:18219222, PMID:18328986, PMID:18680227, PMID:18751724, PMID:18756473, PMID:19423559, PMID:19694204, PMID:19759318, PMID:20164288, PMID:20290361, PMID:20602573, PMID:21289269, PMID:21414629, PMID:21521328, PMID:21645025, PMID:22024717, PMID:22192860, PMID:22422767, PMID:22798347, PMID:23077345, PMID:23764372, PMID:23966241, PMID:24033266, PMID:24133354, PMID:24203066, PMID:24854525, PMID:25091521, PMID:25292184, PMID:25705702, PMID:25741868, PMID:26107257, PMID:26161261, PMID:26166472, PMID:26467025, PMID:26646938, PMID:27157104, PMID:27434672, PMID:27957351, PMID:28492532, PMID:29846619 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
primary hyperparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:7874174, PMID:7916660, PMID:9422777, PMID:10077597, PMID:10912782, PMID:11102444, PMID:11889203, PMID:12095982, PMID:12114500, PMID:17284438, PMID:19389809, PMID:21239511, PMID:23077345, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:22187299, PMID:23293331, PMID:25959515, PMID:28492532, PMID:30311386 NCBI chr13:60,403,771...60,496,511
Ensembl chr13:60,403,771...60,496,511
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:3328816, PMID:21289244, PMID:25741868, PMID:26762354, PMID:27038812, PMID:27153395, PMID:28492532 NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
JBrowse link
G Gpr19 G protein-coupled receptor 19 ISO ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:25741868 NCBI chr 4:168,639,930...168,668,345
Ensembl chr 4:168,639,940...168,656,673
JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:564891, PMID:9215689, PMID:18775714, PMID:22703879, PMID:24997771, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 1:221,704,394...221,710,343
Ensembl chr 1:221,704,493...221,710,331
JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:30311386 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
JBrowse link
G Pth parathyroid hormone ISO protein:increased expression:serum (human)
ClinVar Annotator: match by term: Primary hyperparathyroidism
ClinVar PMID:1425431, PMID:18784115, PMID:23447517 RGD:7242421 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs,haplotype: :(rs1544410),(rs7975232),(rs731236)(human) RGD PMID:9070272 RGD:13432057 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
renal osteodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pth parathyroid hormone ISO associated with Kidney Failure, Chronic; protein:decreased expression:serum (human) RGD PMID:18480316 RGD:7242687 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
secondary hyperparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg2 ATP binding cassette subfamily G member 2 treatment IEP RGD PMID:27988213 RGD:13450940 NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
JBrowse link
G Acp5 acid phosphatase 5, tartrate resistant ISO CTD Direct Evidence: marker/mechanism CTD PMID:21985997, PMID:22373954 NCBI chr 8:23,142,733...23,149,067
Ensembl chr 8:23,142,734...23,148,396
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:22373954 NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
JBrowse link
G Casr calcium-sensing receptor severity ISO associated with Kidney Failure, Chronic;DNA:missense mutations:cds:p.R990G, p.Q1011E (human)
protein:decreased expression:parathyroid gland (human)
RGD PMID:19640368, PMID:11044218 RGD:7205505, RGD:7205664 NCBI chr11:67,188,204...67,262,261
Ensembl chr11:67,188,630...67,258,771
JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:21350317 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Eng endoglin ISO associated with Renal Insufficiency, Chronic; protein:increased expression:parathyroid gland, vasculature (human) RGD PMID:18398016 RGD:7248778 NCBI chr 3:11,679,530...11,717,486
Ensembl chr 3:11,679,530...11,717,485
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21350317 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Kl Klotho IEP associated with Uremia;mRNA,protein:increased expression:parathyroid gland: RGD PMID:20631679 RGD:10403078 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
G Pin1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1 IDA associated with Kidney Failure, Chronic RGD PMID:19770516 RGD:8693427 NCBI chr 8:21,669,236...21,680,615
Ensembl chr 8:21,669,236...21,680,615
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP
ISO
associated with Uremia
associated with kidney failure, chronic: protein:increased expression:parathyroid gland
RGD PMID:21335517, PMID:21335517 RGD:5135046, RGD:5135046 NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
JBrowse link
G Pth parathyroid hormone treatment IEP
ISO
IDA
associated with Uremia
CTD Direct Evidence: marker/mechanism
associated with Renal Insufficiency, Chronic; DNA:snp:exon:g.350C>A (rs6256) (human)
associated with Renal Insufficiency, Chronic; protein:increased expression:serum (human)
associated with Kidney Failure, Chronic
CTD PMID:21350317, PMID:22118402, PMID:22373954, PMID:21335517, PMID:12046039, PMID:23121374, PMID:23499504, PMID:23529273 RGD:5135046, RGD:7242750, RGD:7242728, RGD:7242414, RGD:7242411 NCBI chr 1:178,215,829...178,218,761
Ensembl chr 1:178,215,829...178,218,761
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B treatment ISO associated with Kidney Failure, Chronic RGD PMID:22156488 RGD:7205487 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
JBrowse link
G Vdr vitamin D receptor treatment IEP associated with Kidney Failure, Chronic RGD PMID:8807569 RGD:8158085 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
Transient Neonatal Hyperparathyroidism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpv6 transient receptor potential cation channel, subfamily V, member 6 ISO ClinVar Annotator: match by term: HYPERPARATHYROIDISM, TRANSIENT NEONATAL ClinVar
OMIM
PMID:25741868, PMID:27296226, PMID:28878326, PMID:29258289, PMID:29861107, PMID:30820485 NCBI chr 4:70,918,631...70,934,291
Ensembl chr 4:70,918,632...70,934,295
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      endocrine system disease 4997
        parathyroid gland disease 189
          hyperparathyroidism 33
            Hyperparathyroidism 4 1
            Nephropathy Deafness Hyperparathyroidism 0
            Transient Neonatal Hyperparathyroidism 1
            primary hyperparathyroidism + 17
            secondary hyperparathyroidism + 13
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.