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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.

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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 chrNW_004936528:3,800,801...3,806,000
Ensembl chrNW_004936528:3,800,577...3,805,004 		JBrowse link
G Calcr calcitonin receptor ISO CTD Direct Evidence: therapeutic CTD PMID:18627265 NCBI chrNW_004936803:423,558...466,762
Ensembl chrNW_004936803:422,890...466,730 		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 chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10638776 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Kl klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086 		JBrowse link
G LOC101957714 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chrNW_004936514:1,467,460...1,480,185
Ensembl chrNW_004936514:1,467,261...1,480,185 		JBrowse link
G LOC101978323 25-hydroxyvitamin D-1 alpha hydroxylase, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:20427501 NCBI chrNW_004936646:1,899,686...1,904,104
Ensembl chrNW_004936646:1,900,259...1,904,104 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism
associated with Kidney Failure, Chronic 		CTD
RGD		 PMID:4004906 PMID:7891547 PMID:9382671 PMID:10638776 PMID:12399635 More... RGD:7242689 NCBI chrNW_004936528:5,081,569...5,084,030
Ensembl chrNW_004936528:5,083,596...5,084,030 		JBrowse link
G Pth1r parathyroid hormone 1 receptor ISO protein:increased expression:odontoblast; associated with neoplasms RGD PMID:16036863 RGD:1599980 NCBI chrNW_004936596:674,088...693,191
Ensembl chrNW_004936596:674,088...693,213 		JBrowse link
G Pthlh parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:3616618 PMID:10638776 PMID:11054717 PMID:12358896 NCBI chrNW_004936760:197,525...209,212
Ensembl chrNW_004936760:197,525...209,518 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9560283 NCBI chrNW_004936597:1,667,700...1,684,533
Ensembl chrNW_004936597:1,667,569...1,684,539 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10638776 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b ISO CTD Direct Evidence: therapeutic CTD PMID:15845617 NCBI chrNW_004936470:27,571,263...27,598,725
Ensembl chrNW_004936470:27,571,270...27,599,089 		JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15845617 NCBI chrNW_004936747:1,255,803...1,288,252
Ensembl chrNW_004936747:1,255,803...1,288,252 		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 chrNW_004936725:1,751,272...1,897,937
Ensembl chrNW_004936725:1,751,266...1,897,946 		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 chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454 		JBrowse link
G Ccdc14 coiled-coil domain containing 14 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:1,273,984...1,331,096
Ensembl chrNW_004936725:1,273,946...1,331,109 		JBrowse link
G Cd86 CD86 molecule ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936536:8,414,491...8,481,712 JBrowse link
G Csta cystatin A ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:11807402 PMID:20798521 PMID:28492532 NCBI chrNW_004936536:8,649,890...8,662,472
Ensembl chrNW_004936536:8,649,703...8,662,490 		JBrowse link
G Dtx3l deltex E3 ubiquitin ligase 3L ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936536:8,844,778...8,853,442
Ensembl chrNW_004936536:8,844,575...8,851,146 		JBrowse link
G Eaf2 ELL associated factor 2 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936536:8,213,794...8,257,595
Ensembl chrNW_004936536:8,213,763...8,258,201 		JBrowse link
G Fam162a family with sequence similarity 162 member A ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936536:8,697,631...8,725,667
Ensembl chrNW_004936536:8,697,595...8,730,329 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936524:5,208,793...5,219,555
Ensembl chrNW_004936524:5,208,492...5,219,970 		JBrowse link
G Hacd2 3-hydroxyacyl-CoA dehydratase 2 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:1,614,637...1,705,111
Ensembl chrNW_004936725:1,614,622...1,705,132 		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 chrNW_004936725:261,809...336,390
Ensembl chrNW_004936725:261,712...336,414 		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 chrNW_004936691:650,753...694,362
Ensembl chrNW_004936691:652,769...694,463 		JBrowse link
G Hspbap1 HSPB1 associated protein 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936536:8,976,625...8,994,974 JBrowse link
G Ildr1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936536:8,351,394...8,383,857
Ensembl chrNW_004936536:8,351,359...8,383,907 		JBrowse link
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936536:8,164,120...8,213,690
Ensembl chrNW_004936536:8,163,554...8,213,708 		JBrowse link
G Itgb5 integrin subunit beta 5 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:417,824...530,993
Ensembl chrNW_004936725:417,433...532,760 		JBrowse link
G Kalrn kalirin RhoGEF kinase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:749,382...1,020,702
Ensembl chrNW_004936725:572,868...1,139,142 		JBrowse link
G Kpna1 karyopherin subunit alpha 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936536:8,735,159...8,801,385
Ensembl chrNW_004936536:8,737,488...8,801,428 		JBrowse link
G LOC101962583 protein mono-ADP-ribosyltransferase PARP14 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936536:8,923,398...8,976,583
Ensembl chrNW_004936536:8,923,411...8,974,283 		JBrowse link
G Mix23 mitochondrial matrix import factor 23 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936536:8,671,244...8,696,754
Ensembl chrNW_004936536:8,671,172...8,696,886 		JBrowse link
G Muc13 mucin 13, cell surface associated ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:381,006...400,333 JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:1,418,930...1,594,697
Ensembl chrNW_004936725:1,424,130...1,592,840 		JBrowse link
G Ocrl OCRL inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:19390221 PMID:21031565 PMID:22381590 PMID:23047739 PMID:25326635 More... NCBI chrNW_004936479:1,955,362...2,011,608
Ensembl chrNW_004936479:1,953,488...2,012,018 		JBrowse link
G Parp9 poly(ADP-ribose) polymerase family member 9 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936536:8,806,824...8,845,099
Ensembl chrNW_004936536:8,806,818...8,840,746 		JBrowse link
G Pdia5 protein disulfide isomerase family A member 5 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:2,024,646...2,114,530
Ensembl chrNW_004936725:2,024,643...2,114,560 		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 chrNW_004936499:7,114,838...7,136,468
Ensembl chrNW_004936499:7,115,780...7,136,449 		JBrowse link
G Ropn1 rhophilin associated tail protein 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:1,254,973...1,267,143 JBrowse link
G Sec22a SEC22 homolog A, vesicle trafficking protein ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:1,906,304...1,982,413
Ensembl chrNW_004936725:1,906,362...1,975,567 		JBrowse link
G Sema5b semaphorin 5B ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:2,229,772...2,270,458
Ensembl chrNW_004936725:2,229,764...2,268,894 		JBrowse link
G Slc12a8 solute carrier family 12 member 8 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:100,780...237,525
Ensembl chrNW_004936725:100,823...237,223 		JBrowse link
G Slc15a2 solute carrier family 15 member 2 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936536:8,280,537...8,316,011
Ensembl chrNW_004936536:8,280,448...8,316,064 		JBrowse link
G Slc49a4 solute carrier family 49 member 4 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004937358:39,940...86,612 JBrowse link
G Snx4 sorting nexin 4 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004937215:127,074...137,281 JBrowse link
G Umps uridine monophosphate synthetase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:553,278...564,846
Ensembl chrNW_004936725:549,804...565,141 		JBrowse link
G Wdr5b WD repeat domain 5B ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936536:8,727,881...8,731,067
Ensembl chrNW_004936536:8,728,735...8,730,367 		JBrowse link
G Znf148 zinc finger protein 148 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chrNW_004936725:6,968...89,762
Ensembl chrNW_004936725:6,962...83,034 		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 chrNW_004936536:8,574,064...8,599,446
Ensembl chrNW_004936536:8,574,064...8,599,454 		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 chrNW_004936588:1,770,777...1,789,143
Ensembl chrNW_004936588:1,770,771...1,789,170 		JBrowse link
Hypercalcemia, Infantile, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kl klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:20394945 NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086 		JBrowse link
G LOC101957714 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial ISO ClinVar Annotator: match by term: Hypercalcemia, infantile, 1 OMIM
ClinVar		 PMID:3490596 PMID:19961857 PMID:21675912 PMID:22047571 PMID:22100522 More... NCBI chrNW_004936514:1,467,460...1,480,185
Ensembl chrNW_004936514:1,467,261...1,480,185 		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 chrNW_004936597:1,667,700...1,684,533
Ensembl chrNW_004936597:1,667,569...1,684,539 		JBrowse link
Infantile Hypercalcemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101957714 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial ISO ClinVar Annotator: match by term: Infantile hypercalcemia ClinVar NCBI chrNW_004936514:1,467,460...1,480,185
Ensembl chrNW_004936514:1,467,261...1,480,185 		JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO ClinVar Annotator: match by term: Hypercalcemia, infantile ClinVar PMID:24033266 PMID:25741868 NCBI chrNW_004936597:1,667,700...1,684,533
Ensembl chrNW_004936597:1,667,569...1,684,539 		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 chrNW_004936480:1,188,408...1,273,210
Ensembl chrNW_004936480:1,188,183...1,273,537 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14590
    Nutritional and Metabolic Diseases 7048
      disease of metabolism 7048
        Water-Electrolyte Imbalance 94
          hypercalcemia 51
            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 + 37
Path 2
Term Annotations click to browse term
  disease 14590
    Nutritional and Metabolic Diseases 7048
      disease of metabolism 7048
        acquired metabolic disease 2135
          mineral metabolism disease 903
            calcium metabolism disease 591
              hypercalcemia 51
                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 + 37
paths to the root