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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 CALCB calcitonin-related polypeptide beta ISO CTD Direct Evidence: therapeutic CTD PMID:1115441 PMID:12637657 NCBI chr 2:44,043,135...44,048,651 JBrowse link
G CALCR calcitonin receptor ISO CTD Direct Evidence: therapeutic CTD PMID:18627265 NCBI chr 9:73,279,874...73,403,516
Ensembl chr 9:73,279,879...73,403,436 		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 chr13:138,279,785...138,364,934
Ensembl chr13:138,280,364...138,364,252 		JBrowse link
G CYP24A1 cytochrome P450 family 24 subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22337913 NCBI chr17:55,110,546...55,130,328
Ensembl chr17:55,110,590...55,130,363 		JBrowse link
G CYP27B1 cytochrome P450 family 27 subfamily B member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20427501 NCBI chr 5:23,053,129...23,058,865
Ensembl chr 5:23,053,892...23,058,470 		JBrowse link
G IL6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10638776 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G KL klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:17710231 NCBI chr11:9,427,236...9,479,251
Ensembl chr11:9,427,037...9,479,228 		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 chr 2:45,757,398...45,760,433
Ensembl chr 2:45,757,398...45,760,415 		JBrowse link
G PTH1R parathyroid hormone 1 receptor ISO protein:increased expression:odontoblast; associated with neoplasms RGD PMID:16036863 RGD:1599980 NCBI chr13:29,749,940...29,775,361
Ensembl chr13:29,753,326...29,775,348 		JBrowse link
G PTHLH parathyroid hormone like hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:3616618 PMID:10638776 PMID:11054717 PMID:12358896 NCBI chr 5:45,750,968...45,763,421
Ensembl chr 5:45,751,292...45,763,415 		JBrowse link
G SLC34A1 solute carrier family 34 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9560283 NCBI chr 2:80,548,208...80,563,380
Ensembl chr 2:80,548,232...80,563,321 		JBrowse link
G TNF tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10638776 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,416 		JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO CTD Direct Evidence: therapeutic CTD PMID:15845617 NCBI chr 4:19,850,212...19,879,132
Ensembl chr 4:19,850,350...19,879,125 		JBrowse link
G TNFSF11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15845617 NCBI chr11:24,468,011...24,505,421
Ensembl chr11:24,468,110...24,505,477 		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 chr13:136,965,746...137,133,795
Ensembl chr13:136,972,801...137,135,347 		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 chr13:138,279,785...138,364,934
Ensembl chr13:138,280,364...138,364,252 		JBrowse link
G CCDC14 coiled-coil domain containing 14 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:136,439,015...136,502,604
Ensembl chr13:136,438,967...136,486,496 		JBrowse link
G CD86 CD86 molecule ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:138,427,573...138,504,307
Ensembl chr13:138,427,533...138,504,310 		JBrowse link
G DTX3L deltex E3 ubiquitin ligase 3L ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:137,950,266...137,961,381
Ensembl chr13:137,950,272...137,961,343 		JBrowse link
G EAF2 ELL associated factor 2 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:138,632,541...138,681,607
Ensembl chr13:138,648,270...138,681,613 		JBrowse link
G FAM162A family with sequence similarity 162 member A ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:138,115,499...138,151,828
Ensembl chr13:138,115,509...138,151,738 		JBrowse link
G GRHPR glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:238,139,764...238,151,631
Ensembl chr 1:238,139,794...238,152,382 		JBrowse link
G HACD2 3-hydroxyacyl-CoA dehydratase 2 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:136,834,103...136,933,564
Ensembl chr13:136,834,115...136,933,549 		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 chr13:135,268,566...135,358,673
Ensembl chr13:135,298,377...135,358,670 		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:110,321,144...110,357,902
Ensembl chr  X:110,321,204...110,357,894 		JBrowse link
G HSPBAP1 HSPB1 associated protein 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:137,739,144...137,805,990
Ensembl chr13:137,740,396...137,809,527 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:138,530,905...138,575,483
Ensembl chr13:138,530,910...138,572,189 		JBrowse link
G IQCB1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:138,689,544...138,741,228
Ensembl chr13:138,681,740...138,741,367 		JBrowse link
G ITGB5 integrin subunit beta 5 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:135,468,111...135,587,483
Ensembl chr13:135,467,798...135,587,473 		JBrowse link
G KALRN kalirin RhoGEF kinase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:135,653,795...136,277,072 JBrowse link
G KPNA1 karyopherin subunit alpha 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:138,045,083...138,100,830
Ensembl chr13:138,018,407...138,103,838 		JBrowse link
G LOC396867 stefin A8 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:11807402 PMID:20798521 PMID:28492532 NCBI chr13:138,216,027...138,226,397
Ensembl chr13:138,181,723...138,236,860 		JBrowse link
G MIX23 mitochondrial matrix import factor 23 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:138,152,426...138,178,458
Ensembl chr13:138,152,491...138,178,444 		JBrowse link
G MUC13 mucin 13, cell surface associated ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:135,416,709...135,446,337
Ensembl chr13:135,412,425...135,442,691 		JBrowse link
G MYLK myosin light chain kinase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:136,509,878...136,809,674
Ensembl chr13:136,509,755...136,809,668 		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:106,124,991...106,188,066
Ensembl chr  X:106,135,431...106,190,110 		JBrowse link
G OSBPL11 oxysterol binding protein like 11 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:134,718,351...134,807,152
Ensembl chr13:134,718,450...134,807,146 		JBrowse link
G PARP14 poly(ADP-ribose) polymerase family member 14 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:137,809,499...137,865,383
Ensembl chr13:137,809,510...137,865,106 		JBrowse link
G PARP15 poly(ADP-ribose) polymerase family member 15 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:137,882,179...137,936,389 JBrowse link
G PARP9 poly(ADP-ribose) polymerase family member 9 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:137,960,987...138,000,862
Ensembl chr13:137,966,562...138,000,846 		JBrowse link
G PDIA5 protein disulfide isomerase family A member 5 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:137,300,086...137,398,465
Ensembl chr13:137,296,883...137,398,628 		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:88,074,861...88,101,925
Ensembl chr  X:88,074,965...88,101,910 		JBrowse link
G ROPN1 rhophilin associated tail protein 1 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:136,395,628...136,428,170 JBrowse link
G SEC22A SEC22 homolog A, vesicle trafficking protein ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:137,175,790...137,250,698
Ensembl chr13:137,170,961...137,250,550 		JBrowse link
G SEMA5B semaphorin 5B ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:137,443,982...137,586,962
Ensembl chr13:137,455,346...137,590,831 		JBrowse link
G SLC12A8 solute carrier family 12 member 8 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:135,105,723...135,249,124
Ensembl chr13:135,105,896...135,249,120 		JBrowse link
G SLC15A2 solute carrier family 15 member 2 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:138,595,942...138,634,473
Ensembl chr13:138,595,958...138,632,675 		JBrowse link
G SLC49A4 solute carrier family 49 member 4 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:137,633,471...137,739,114
Ensembl chr13:137,641,425...137,739,098 		JBrowse link
G SNX4 sorting nexin 4 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:134,824,028...134,903,765
Ensembl chr13:134,824,043...134,905,359 		JBrowse link
G UMPS uridine monophosphate synthetase ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:135,611,857...135,650,656
Ensembl chr13:135,610,058...135,650,603 		JBrowse link
G WDR5B WD repeat domain 5B ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:138,109,758...138,113,638
Ensembl chr13:138,109,848...138,113,646 		JBrowse link
G ZNF148 zinc finger protein 148 ISO ClinVar Annotator: match by term: Familial hypocalciuric hypercalcemia ClinVar PMID:28492532 NCBI chr13:134,968,774...135,093,828
Ensembl chr13:134,969,729...135,089,151 		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 chr13:138,279,785...138,364,934
Ensembl chr13:138,280,364...138,364,252 		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 chr 2:75,439,405...75,456,855
Ensembl chr 2:75,437,201...75,457,092 		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 chr 6:52,695,640...52,703,263
Ensembl chr 6:52,695,640...52,703,278 		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 chr17:55,110,546...55,130,328
Ensembl chr17:55,110,590...55,130,363 		JBrowse link
G KL klotho ISO CTD Direct Evidence: marker/mechanism CTD PMID:20394945 NCBI chr11:9,427,236...9,479,251
Ensembl chr11:9,427,037...9,479,228 		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 2:80,548,208...80,563,380
Ensembl chr 2:80,548,232...80,563,321 		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 chr17:55,110,546...55,130,328
Ensembl chr17:55,110,590...55,130,363 		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 2:80,548,208...80,563,380
Ensembl chr 2:80,548,232...80,563,321 		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 chr16:46,434,757...46,523,626
Ensembl chr16:46,511,521...46,523,609 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15386
    Nutritional and Metabolic Diseases 7362
      disease of metabolism 7362
        Water-Electrolyte Imbalance 98
          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 15386
    Nutritional and Metabolic Diseases 7362
      disease of metabolism 7362
        acquired metabolic disease 2254
          mineral metabolism disease 928
            calcium metabolism disease 603
              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