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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 Annotator: match by term: Primary hyperparathyroidism ClinVar PMID:791660 PMID:1302026 PMID:1706284 PMID:7054696 PMID:7726161 More... NCBI chr11:77,738,398...77,813,639
Ensembl chr11:77,740,614...77,810,167 		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 4:169,491,273...169,496,500
Ensembl chr 4:169,490,876...169,496,498 		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 1:213,068,166...213,074,132
Ensembl chr 1:213,068,166...213,074,120 		JBrowse link
G Mir30e microRNA 30e susceptibility ISO DNA:SNPs: (ss178077483, rs7556088) (human) RGD PMID:31280217 RGD:401827155 NCBI chr 5:139,637,450...139,637,541
Ensembl chr 5:139,637,450...139,637,541 		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 1:176,942,901...176,946,034
Ensembl chr 1:176,943,102...176,946,034 		JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs,haplotype: :(rs1544410),(rs7975232),(rs731236)(human) RGD PMID:9070272 RGD:13432057 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757 		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 chr13:57,897,924...58,000,031
Ensembl chr13:57,883,983...57,999,978 		JBrowse link
Familial Isolated Hyperparathyroidism 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 1:213,068,166...213,074,132
Ensembl chr 1:213,068,166...213,074,120 		JBrowse link
Hyperparathyroidism 1 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: Hyperparathyroidism 1
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 More... NCBI chr13:57,897,924...58,000,031
Ensembl chr13:57,883,983...57,999,978 		JBrowse link
G Men1 menin 1 ISO ClinVar Annotator: match by term: Hyperparathyroidism 1
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:9536098 PMID:9683585 PMID:15254225 PMID:15292357 PMID:17576681 More... NCBI chr 1:213,068,166...213,074,132
Ensembl chr 1:213,068,166...213,074,120 		JBrowse link
Hyperparathyroidism 2 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: HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY | 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 chr13:57,897,924...58,000,031
Ensembl chr13:57,883,983...57,999,978 		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: GCM2-related condition | ClinVar Annotator: match by term: Hyperparathyroidism 4 OMIM
ClinVar		 PMID:15728199 PMID:15863676 PMID:18182452 PMID:18712808 PMID:19940031 More... NCBI chr17:23,858,379...23,867,495
Ensembl chr17:23,858,379...23,867,495 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neonatal severe primary hyperparathyroidism 		CTD
ClinVar
OMIM		 PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2211966 More... NCBI chr11:77,738,398...77,813,639
Ensembl chr11:77,740,614...77,810,167 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      endocrine system disease 5302
        parathyroid gland disease 57
          hyperparathyroidism 23
            primary hyperparathyroidism 8
              Familial Cystic Parathyroid Adenomatosis 1
              Familial Isolated Hyperparathyroidism + 3
              Hyperparathyroidism 2 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