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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 EXP CTD Direct Evidence: therapeutic CTD PMID:1115441 PMID:12637657 NCBI chr11:14,966,668...14,972,351
Ensembl chr11:14,966,622...14,972,354 		JBrowse link
G CALCR calcitonin receptor EXP CTD Direct Evidence: therapeutic CTD PMID:18627265 NCBI chr 7:93,424,486...93,574,724
Ensembl chr 7:93,424,486...93,574,730 		JBrowse link
G CASR calcium sensing receptor ISO
IAGP
EXP		 DNA:missense mutations:cds:p.R990G, p.E1011Q (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypercalcemia		 CTD
ClinVar
RGD		 PMID:8675635 PMID:8878438 PMID:9011580 PMID:15591042 PMID:17284438 More... RGD:734698, RGD:7205445 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20427501 NCBI chr12:57,762,334...57,767,078
Ensembl chr12:57,762,334...57,768,986 		JBrowse link
G IL6 interleukin 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:10638776 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G KL klotho EXP CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		JBrowse link
G PTH parathyroid hormone ISO
EXP		 associated with Kidney Failure, Chronic
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:4004906 PMID:7891547 PMID:9382671 PMID:10638776 PMID:12399635 More... RGD:7242689 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181 		JBrowse link
G PTH1R parathyroid hormone 1 receptor ISO protein:increased expression:odontoblast; associated with neoplasms RGD PMID:16036863 RGD:1599980 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799 		JBrowse link
G PTHLH parathyroid hormone like hormone EXP CTD Direct Evidence: marker/mechanism CTD PMID:3616618 PMID:10638776 PMID:11054717 PMID:12358896 NCBI chr12:27,958,084...27,972,733
Ensembl chr12:27,958,084...27,972,733 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9560283 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		JBrowse link
G TNF tumor necrosis factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:10638776 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b EXP CTD Direct Evidence: therapeutic CTD PMID:15845617 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885 		JBrowse link
G TNFSF11 TNF superfamily member 11 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15845617 NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013 		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 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:123,282,296...123,449,090
Ensembl chr 3:123,282,296...123,449,090 		JBrowse link
G CASR calcium sensing receptor IAGP ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia
ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
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 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		JBrowse link
G CCDC14 coiled-coil domain containing 14 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:123,885,176...123,961,229
Ensembl chr 3:123,897,305...123,961,408 		JBrowse link
G CD86 CD86 molecule IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,055,362...122,121,136
Ensembl chr 3:122,055,362...122,121,139 		JBrowse link
G CSTA cystatin A IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:11807402 PMID:20798521 PMID:28492532 NCBI chr 3:122,325,248...122,341,969
Ensembl chr 3:122,325,248...122,341,969 		JBrowse link
G DTX3L deltex E3 ubiquitin ligase 3L IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,564,338...122,575,203
Ensembl chr 3:122,564,338...122,575,203 		JBrowse link
G EAF2 ELL associated factor 2 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:121,835,209...121,886,526
Ensembl chr 3:121,835,183...121,886,526 		JBrowse link
G FAM162A family with sequence similarity 162 member A IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,384,182...122,412,334
Ensembl chr 3:122,384,161...122,412,334 		JBrowse link
G GRHPR glyoxylate and hydroxypyruvate reductase IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia | ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:37,422,435...37,439,494
Ensembl chr 9:37,422,666...37,436,990 		JBrowse link
G HACD2 3-hydroxyacyl-CoA dehydratase 2 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:123,491,554...123,585,053
Ensembl chr 3:123,490,820...123,585,053 		JBrowse link
G HEG1 heart development protein with EGF like domains 1 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:124,965,710...125,055,997
Ensembl chr 3:124,965,710...125,055,997 		JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 IAGP ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:11018746 PMID:23975452 PMID:25481104 PMID:28492532 NCBI chr  X:134,460,165...134,500,668
Ensembl chr  X:134,460,165...134,520,513 		JBrowse link
G HSPBAP1 HSPB1 associated protein 1 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,739,999...122,793,831
Ensembl chr 3:122,739,999...122,793,831 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:121,987,323...122,061,655
Ensembl chr 3:121,987,323...122,022,247 		JBrowse link
G IQCB1 IQ motif containing B1 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:121,769,761...121,835,060
Ensembl chr 3:121,769,761...121,835,079 		JBrowse link
G ITGB5 integrin subunit beta 5 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:124,761,948...124,901,418
Ensembl chr 3:124,761,948...124,901,418 		JBrowse link
G KALRN kalirin RhoGEF kinase IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:124,033,369...124,726,325
Ensembl chr 3:124,033,369...124,726,325 		JBrowse link
G KPNA1 karyopherin subunit alpha 1 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,421,902...122,514,939
Ensembl chr 3:122,421,902...122,514,945 		JBrowse link
G LOC113875008 Sharpr-MPRA regulatory region 13828 IAGP ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:129,540,092...129,540,472 JBrowse link
G MIX23 mitochondrial matrix import factor 23 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,359,591...122,383,231
Ensembl chr 3:122,359,591...122,383,231 		JBrowse link
G MUC13 mucin 13, cell surface associated IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:124,905,442...124,934,751
Ensembl chr 3:124,905,442...124,953,819 		JBrowse link
G MYLK myosin light chain kinase IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis
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:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561 		JBrowse link
G OSBPL11 oxysterol binding protein like 11 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:125,528,858...125,595,497
Ensembl chr 3:125,528,858...125,595,497 		JBrowse link
G PARP14 poly(ADP-ribose) polymerase family member 14 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,680,839...122,730,840
Ensembl chr 3:122,680,839...122,730,840 		JBrowse link
G PARP15 poly(ADP-ribose) polymerase family member 15 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,577,650...122,639,047
Ensembl chr 3:122,577,628...122,639,047 		JBrowse link
G PARP9 poly(ADP-ribose) polymerase family member 9 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,527,924...122,564,784
Ensembl chr 3:122,527,924...122,564,577 		JBrowse link
G PDIA5 protein disulfide isomerase family A member 5 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:123,067,025...123,162,104
Ensembl chr 3:123,067,025...123,225,227 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993 		JBrowse link
G ROPN1 rhophilin associated tail protein 1 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:123,969,015...123,992,124
Ensembl chr 3:123,968,521...123,992,178 		JBrowse link
G SEC22A SEC22 homolog A, vesicle trafficking protein IAGP ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:28492532 NCBI chr 3:123,201,943...123,274,136
Ensembl chr 3:123,201,927...123,274,136 		JBrowse link
G SEMA5B semaphorin 5B IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,909,082...123,028,605
Ensembl chr 3:122,909,082...123,028,605 		JBrowse link
G SLC12A8 solute carrier family 12 member 8 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:125,082,644...125,212,748
Ensembl chr 3:125,082,636...125,212,864 		JBrowse link
G SLC15A2 solute carrier family 15 member 2 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:121,894,401...121,944,188
Ensembl chr 3:121,894,401...121,944,188 		JBrowse link
G SLC49A4 solute carrier family 49 member 4 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:122,795,069...122,881,139
Ensembl chr 3:122,795,069...122,881,139 		JBrowse link
G SNX4 sorting nexin 4 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:125,446,650...125,520,202
Ensembl chr 3:125,446,650...125,520,202 		JBrowse link
G UMPS uridine monophosphate synthetase IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:124,730,452...124,749,273
Ensembl chr 3:124,730,433...124,749,273 		JBrowse link
G WDR5B WD repeat domain 5B IAGP ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:28492532 NCBI chr 3:122,411,846...122,416,062
Ensembl chr 3:122,411,846...122,416,062 		JBrowse link
G ZNF148 zinc finger protein 148 IAGP ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr 3:125,225,669...125,375,354
Ensembl chr 3:125,225,669...125,375,325 		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
IAGP
ISS
EXP		 ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 1 | ClinVar Annotator: match by term: Hypercalcemia, familial benign type 1
OMIM:145980
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.A213E (human)
DNA:missense mutations:cds:multiple (human)
DNA:missense mutations:cds:p.R186E, p.E298K, p.R796W (human)		 ClinVar
OMIM
MouseDO
CTD
RGD		 PMID:791660 PMID:1302026 PMID:1706284 PMID:1889203 PMID:2211966 More... RGD:7205436, RGD:7205499, RGD:7205440, RGD:1600616 NCBI chr 3:122,183,668...122,291,629
Ensembl chr 3:122,183,668...122,291,629 		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 IAGP
EXP		 ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 2 | ClinVar Annotator: match by term: Hypocalciuric hypercalcemia, type II
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:23802516 PMID:23802536 PMID:25741868 More... NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999 		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 IAGP
EXP		 ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia 3
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1524075 PMID:9536098 PMID:17576681 PMID:20133464 PMID:23222959 More... NCBI chr19:46,838,167...46,850,846
Ensembl chr19:46,838,136...46,850,846 		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 IAGP ClinVar Annotator: match by term: Hypercalcemia, infantile, 1 ClinVar
OMIM		 PMID:3490596 PMID:19961857 PMID:21675912 PMID:22047571 PMID:22100522 More... NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986 		JBrowse link
G KL klotho EXP CTD Direct Evidence: marker/mechanism CTD PMID:20394945 NCBI chr13:33,016,243...33,066,143
Ensembl chr13:33,016,423...33,066,143 		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 IAGP ClinVar Annotator: match by term: Hypercalcemia, infantile, 2 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:16688119 PMID:17576681 PMID:20466674 More... NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		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 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Infantile hypercalcemia		 CTD
ClinVar		 NCBI chr20:54,143,538...54,173,986
Ensembl chr20:54,153,446...54,173,986 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypercalcemia, infantile		 CTD
ClinVar		 PMID:24033266 PMID:25741868 NCBI chr 5:177,384,434...177,398,848
Ensembl chr 5:177,379,235...177,398,848 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: SHORT syndrome
OMIM:269880
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:269880 PMID:6407320 PMID:7705412 PMID:8574420 PMID:9536098 More... NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97543
    Nutritional and Metabolic Diseases 13674
      disease of metabolism 13674
        Water-Electrolyte Imbalance 117
          hypercalcemia 55
            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 + 41
Path 2
Term Annotations click to browse term
  disease 97543
    Nutritional and Metabolic Diseases 13674
      disease of metabolism 13674
        acquired metabolic disease 4232
          mineral metabolism disease 1896
            calcium metabolism disease 1494
              hypercalcemia 55
                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 + 41
paths to the root