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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:primary hyperparathyroidism
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Accession:DOID:11202 term browser browse the term
Definition:A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood. (DO)
Synonyms:exact_synonym: familial benign hypercalcemia;   familial primary hyperparathyroidism;   primary hyperparathyroidisms
 primary_id: MESH:D049950
 xref: EFO:0002620;   EFO:0008519;   GARD:8612;   ICD10CM:E21.0;   ICD9CM:252.01;   NCI:C48280;   ORDO:99878
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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: Familial benign hypercalcemia ClinVar PMID:791660 PMID:1302026 PMID:1706284 PMID:7054696 PMID:7726161 More... NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811 		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:26989398 More... NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982 		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 More... NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871 		JBrowse link
G Mir30e microRNA 30e susceptibility ISO DNA:SNPs: (ss178077483, rs7556088) (human) RGD PMID:31280217 RGD:401827155 NCBI chr 5:134,352,232...134,352,323
Ensembl chr 5:134,352,232...134,352,323 		JBrowse link
G Pth parathyroid hormone ISO protein:increased expression:serum (human)
ClinVar Annotator: match by term: Primary hyperparathyroidism		 ClinVar
RGD		 PMID:1425431 PMID:18784115 PMID:25741868 PMID:23447517 RGD:7242421 NCBI chr 1:167,508,121...167,511,530
Ensembl chr 1:167,508,598...167,511,530 		JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs,haplotype: :(rs1544410),(rs7975232),(rs731236)(human) RGD PMID:9070272 RGD:13432057 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		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 chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656 		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:25741868 PMID:28774260 NCBI chr13:55,389,406...55,398,419
Ensembl chr13:55,389,406...55,398,419 		JBrowse link
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 More... NCBI chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656 		JBrowse link
G Glrx2 glutaredoxin 2 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr13:55,481,875...55,504,737
Ensembl chr13:55,482,694...55,492,831 		JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Familial isolated hyperparathyroidism | ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:9536098 PMID:9683585 PMID:15254225 PMID:15292357 PMID:17576681 More... NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871 		JBrowse link
G Rgs1 regulator of G-protein signaling 1 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr13:56,018,546...56,022,889
Ensembl chr13:56,018,554...56,022,984 		JBrowse link
G Rgs13 regulator of G-protein signaling 13 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr13:55,922,290...55,955,753
Ensembl chr13:55,922,395...55,955,648 		JBrowse link
G Rgs18 regulator of G-protein signaling 18 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr13:56,493,134...56,516,045
Ensembl chr13:56,494,010...56,516,098 		JBrowse link
G Rgs2 regulator of G-protein signaling 2 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr13:55,799,749...55,802,354
Ensembl chr13:55,798,829...55,802,385 		JBrowse link
G Rgs21 regulator of G-protein signaling 21 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr13:56,239,448...56,289,290
Ensembl chr13:56,240,735...56,266,573 		JBrowse link
G Ro60 Ro60, Y RNA binding protein ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr13:55,499,514...55,520,504
Ensembl chr13:55,499,534...55,520,504 		JBrowse link
G Scarna18b small Cajal body-specific RNA 18B ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr13:55,522,359...55,522,493
Ensembl chr13:55,522,359...55,522,493 		JBrowse link
G Uchl5 ubiquitin C-terminal hydrolase L5 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1 ClinVar PMID:21681106 PMID:28774260 NCBI chr13:55,520,722...55,556,503
Ensembl chr13:55,520,729...55,556,502 		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 with jaw tumors ClinVar PMID:25637381 NCBI chr13:55,389,406...55,398,419
Ensembl chr13:55,389,406...55,398,419 		JBrowse link
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 More... NCBI chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656 		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:17623761 PMID:25741868 PMID:28492532 NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871 		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 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neonatal severe hyperparathyroidism | ClinVar Annotator: match by term: Neonatal severe primary hyperparathyroidism		 CTD
OMIM
ClinVar		 PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2211966 More... NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      endocrine system disease 6819
        parathyroid gland disease 1039
          hyperparathyroidism 33
            primary hyperparathyroidism 17
              Familial Cystic Parathyroid Adenomatosis 1
              Hyperparathyroidism 1 12
              Hyperparathyroidism 2 2
              Hyperparathyroidism 3 1
              Hyperparathyroidism, Neonatal Severe Primary 1
              Hypophosphatemic Rickets and Hyperparathyroidism 0
              Neonatal Self-Limited Primary Hyperparathyroidism with Hypercalciuria 0
              Primary Hyperparathyroidism, caused by Water Clear Cell Hyperplasia 0
paths to the root