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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: 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:8636323 PMID:10023897 PMID:10217111 PMID:10912749 PMID:11161843 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 Gpr19 G protein-coupled receptor 19 ISO ClinVar Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:25741868 NCBI chr 4:167,710,944...167,739,232
Ensembl chr 4:167,710,666...167,741,036
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 Pth parathyroid hormone ISO protein:increased expression:serum (human)
ClinVar Annotator: match by term: Primary hyperparathyroidism
ClinVar
RGD
PMID:1425431 PMID:18784115 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 null
ClinVar Annotator: match by term: Hyperparathyroidism 1
ClinVar
OMIM
PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15531515 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 null
ClinVar Annotator: match by term: Familial isolated hyperparathyroidism
ClinVar PMID:15292357 PMID:25741868 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 chr13:56,018,529...56,022,939
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 chr13:56,494,236...56,515,862
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 chr13:56,242,533...56,266,573
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 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 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 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 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:25741868 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 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:1302026 PMID:1706284 PMID:2211966 PMID:5013415 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 17289
    disease of anatomical entity 16625
      endocrine system disease 5840
        parathyroid gland disease 1021
          hyperparathyroidism 32
            primary hyperparathyroidism 16
              Familial Cystic Parathyroid Adenomatosis 1
              Hyperparathyroidism 1 11
              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