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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:hypercalcemia
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Accession:DOID:12678 term browser browse the term
Definition:Abnormally high level of calcium in the blood.
Synonyms:exact_synonym: Milk Alkali Syndrome;   hypercalcemia disease;   hypercalcemias
 primary_id: MESH:D006934
 xref: EFO:0005563;   ICD10CM:E83.52;   ICD9CM:275.42;   MIM:PS143880;   MONDO:0001566;   NCI:C3112
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
hypercalcemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CALCA calcitonin related polypeptide alpha ISO CTD Direct Evidence: therapeutic CTD PMID:1115441 PMID:12637657 NCBI chr11:15,055,897...15,061,539
Ensembl chr11:14,745,588...14,751,267 		JBrowse link
G CALCR calcitonin receptor ISO CTD Direct Evidence: therapeutic CTD PMID:18627265 NCBI chr 7:85,382,167...85,532,562
Ensembl chr 7:98,975,906...99,047,162 		JBrowse link
G CASR calcium sensing receptor ISO ClinVar Annotator: match by term: Hypercalcemia ClinVar PMID:8675635 PMID:8878438 PMID:15591042 PMID:17284438 PMID:19389809 More... NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chr20:50,500,103...50,520,487
Ensembl chr20:51,721,685...51,742,716 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20427501 NCBI chr12:31,158,814...31,164,462
Ensembl chr12:31,419,773...31,424,822 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10638776 NCBI chr 7:23,415,922...23,420,767 JBrowse link
G KL klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr13:14,272,463...14,321,122
Ensembl chr13:32,702,336...32,751,458 		JBrowse link
G PTH parathyroid hormone ISO associated with Kidney Failure, Chronic
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:4004906 PMID:7891547 PMID:9382671 PMID:10638776 PMID:12399635 More... RGD:7242689 NCBI chr11:13,653,777...13,657,901
Ensembl chr11:13,347,838...13,351,802 		JBrowse link
G PTH1R parathyroid hormone 1 receptor ISO protein:increased expression:odontoblast; associated with neoplasms RGD PMID:16036863 RGD:1599980 NCBI chr 3:46,777,945...46,804,039
Ensembl chr 3:47,894,901...47,905,431 		JBrowse link
G PTHLH parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:3616618 PMID:10638776 PMID:11054717 PMID:12358896 NCBI chr12:58,341,361...58,355,804
Ensembl chr12:60,960,071...60,973,750 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9560283 NCBI chr 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10638776 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO CTD Direct Evidence: therapeutic CTD PMID:15845617 NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422 		JBrowse link
G TNFSF11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15845617 NCBI chr13:23,750,835...23,784,740 JBrowse link
familial hypocalciuric hypercalcemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:120,380,094...120,545,725
Ensembl chr 3:127,283,921...127,446,508 		JBrowse link
G CASR calcium sensing receptor ISO ClinVar Annotator: match by term: Familial benign hypercalcemia | ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2476381 More... NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268 		JBrowse link
G CCDC14 coiled-coil domain containing 14 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:121,018,879...121,066,563
Ensembl chr 3:127,918,294...127,965,906 		JBrowse link
G CD86 CD86 molecule ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:119,151,884...119,217,641
Ensembl chr 3:126,059,008...126,124,339 		JBrowse link
G CSTA cystatin A ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:11807402 PMID:20798521 PMID:28492532 NCBI chr 3:119,417,489...119,432,244
Ensembl chr 3:126,323,901...126,338,430 		JBrowse link
G DTX3L deltex E3 ubiquitin ligase 3L ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:119,654,019...119,664,918
Ensembl chr 3:126,558,924...126,569,807 		JBrowse link
G EAF2 ELL associated factor 2 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:118,936,685...118,996,051
Ensembl chr 3:125,844,338...125,895,416 		JBrowse link
G FAM162A family with sequence similarity 162 member A ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:119,474,737...119,500,668
Ensembl chr 3:126,380,525...126,406,366 		JBrowse link
G GRHPR glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:37,267,918...37,282,253
Ensembl chr 9:38,192,149...38,206,478 		JBrowse link
G HACD2 3-hydroxyacyl-CoA dehydratase 2 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:120,588,195...120,684,177 JBrowse link
G HEG1 heart development protein with EGF like domains 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,091,832...122,204,436
Ensembl chr 3:128,969,817...129,028,317 		JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:11018746 PMID:23975452 PMID:25481104 PMID:28492532 NCBI chr  X:123,609,248...123,650,102
Ensembl chr  X:133,916,681...133,948,197 		JBrowse link
G HSPBAP1 HSPB1 associated protein 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:119,832,903...119,883,383
Ensembl chr 3:126,737,419...126,786,484 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:119,088,855...119,124,831
Ensembl chr 3:125,996,018...126,032,041 		JBrowse link
G IQCB1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:118,871,589...118,936,591
Ensembl chr 3:125,779,453...125,844,242 		JBrowse link
G ITGB5 integrin subunit beta 5 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:121,863,676...122,013,438
Ensembl chr 3:128,762,200...128,877,172 		JBrowse link
G KALRN kalirin RhoGEF kinase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:121,138,136...121,828,723
Ensembl chr 3:128,225,413...128,720,441 		JBrowse link
G KPNA1 karyopherin subunit alpha 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:119,513,919...119,604,737
Ensembl chr 3:126,421,700...126,510,325 		JBrowse link
G MIX23 mitochondrial matrix import factor 23 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:119,447,990...119,473,899
Ensembl chr 3:126,356,033...126,379,627 		JBrowse link
G MUC13 mucin 13, cell surface associated ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,032,535...122,060,974
Ensembl chr 3:128,907,662...128,934,426 		JBrowse link
G MYLK myosin light chain kinase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:120,711,705...120,983,432
Ensembl chr 3:127,614,173...127,793,261 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:19390221 PMID:21031565 PMID:22381590 PMID:23047739 PMID:25326635 More... NCBI chr  X:118,670,612...118,721,108
Ensembl chr  X:128,968,760...129,018,157 		JBrowse link
G OSBPL11 oxysterol binding protein like 11 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,662,013...122,731,769
Ensembl chr 3:129,525,882...129,594,899 		JBrowse link
G PARP14 poly(ADP-ribose) polymerase family member 14 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:119,773,334...119,823,732
Ensembl chr 3:126,677,868...126,728,256 		JBrowse link
G PARP15 poly(ADP-ribose) polymerase family member 15 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:119,665,014...119,730,198
Ensembl chr 3:126,601,919...126,634,842 		JBrowse link
G PARP9 poly(ADP-ribose) polymerase family member 9 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:119,617,722...119,655,039
Ensembl chr 3:126,522,859...126,559,647 		JBrowse link
G PDIA5 protein disulfide isomerase family A member 5 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:120,155,981...120,250,961
Ensembl chr 3:127,059,751...127,154,451 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:96,720,988...96,743,594
Ensembl chr  X:107,094,898...107,117,117 		JBrowse link
G ROPN1 rhophilin associated tail protein 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:121,074,182...121,097,320
Ensembl chr 3:127,973,536...127,996,694 		JBrowse link
G SEC22A SEC22 homolog A, vesicle trafficking protein ISO ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:28492532 NCBI chr 3:120,299,636...120,370,517
Ensembl chr 3:127,203,060...127,271,841 		JBrowse link
G SEMA5B semaphorin 5B ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:119,996,933...120,116,899
Ensembl chr 3:126,900,966...126,986,186 		JBrowse link
G SLC12A8 solute carrier family 12 member 8 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,214,558...122,344,797
Ensembl chr 3:129,080,749...129,210,872 		JBrowse link
G SLC15A2 solute carrier family 15 member 2 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:118,996,023...119,044,423
Ensembl chr 3:125,902,978...125,951,963 		JBrowse link
G SLC49A4 solute carrier family 49 member 4 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:119,883,252...119,968,881
Ensembl chr 3:126,782,782...126,872,936 		JBrowse link
G SNX4 sorting nexin 4 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,578,527...122,652,007
Ensembl chr 3:129,443,369...129,515,917 		JBrowse link
G UMPS uridine monophosphate synthetase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:121,832,758...121,851,707
Ensembl chr 3:128,731,355...128,745,029 		JBrowse link
G WDR5B WD repeat domain 5B ISO ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:28492532 NCBI chr 3:119,503,001...119,506,814
Ensembl chr 3:126,410,902...126,411,894 		JBrowse link
G ZNF148 zinc finger protein 148 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,357,670...122,507,142
Ensembl chr 3:129,229,690...129,320,554 		JBrowse link
familial hypocalciuric hypercalcemia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CASR calcium sensing receptor ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 | ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1 OMIM
ClinVar		 PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2211966 More... NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268 		JBrowse link
familial hypocalciuric hypercalcemia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNA11 G protein subunit alpha 11 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 | ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, type II OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23802516 PMID:23802536 PMID:25741868 More... NCBI chr19:2,120,398...2,149,161
Ensembl chr19:3,074,483...3,102,124 		JBrowse link
familial hypocalciuric hypercalcemia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP2S1 adaptor related protein complex 2 subunit sigma 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 3 OMIM
ClinVar		 PMID:1524075 PMID:9536098 PMID:17576681 PMID:20133464 PMID:23222959 More... NCBI chr19:43,827,907...43,840,682 JBrowse link
Hypercalcemia, Infantile, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 ISO ClinVar Annotator: match by term: Hypercalcemia, infantile, 1 OMIM
ClinVar		 PMID:3490596 PMID:19961857 PMID:21675912 PMID:22047571 PMID:22100522 More... NCBI chr20:50,500,103...50,520,487
Ensembl chr20:51,721,685...51,742,716 		JBrowse link
G KL klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:20394945 NCBI chr13:14,272,463...14,321,122
Ensembl chr13:32,702,336...32,751,458 		JBrowse link
Hypercalcemia, Infantile, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC34A1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hypercalcemia, infantile, 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16688119 PMID:17576681 PMID:20466674 More... NCBI chr 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975 		JBrowse link
Infantile Hypercalcemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 ISO ClinVar Annotator: match by term: Infantile hypercalcemia ClinVar NCBI chr20:50,500,103...50,520,487
Ensembl chr20:51,721,685...51,742,716 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hypercalcemia, infantile ClinVar PMID:24033266 PMID:25741868 NCBI chr 5:172,685,862...172,700,440
Ensembl chr 5:179,748,492...179,762,975 		JBrowse link
SHORT syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 ISO ClinVar Annotator: match by term: SHORT syndrome OMIM
ClinVar		 PMID:269880 PMID:6407320 PMID:7705412 PMID:8574420 PMID:9536098 More... NCBI chr 5:45,701,219...45,786,652
Ensembl chr 5:47,267,286...47,350,960 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15753
    Nutritional and Metabolic Diseases 7477
      disease of metabolism 7477
        Water-Electrolyte Imbalance 99
          hypercalcemia 54
            Blue Diaper Syndrome 0
            Humoral Hypercalcemia Of Malignancy 0
            Hypercalciuric Hypercalcemia 0
            Hypocalciuric Hypercalcemia, Acquired 0
            Infantile Hypercalcemia + 3
            SHORT syndrome 1
            familial hypocalciuric hypercalcemia + 40
Path 2
Term Annotations click to browse term
  disease 15753
    Nutritional and Metabolic Diseases 7477
      disease of metabolism 7477
        acquired metabolic disease 2237
          mineral metabolism disease 945
            calcium metabolism disease 621
              hypercalcemia 54
                Blue Diaper Syndrome 0
                Humoral Hypercalcemia Of Malignancy 0
                Hypercalciuric Hypercalcemia 0
                Hypocalciuric Hypercalcemia, Acquired 0
                Infantile Hypercalcemia + 3
                SHORT syndrome 1
                familial hypocalciuric hypercalcemia + 40
paths to the root