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ONTOLOGY REPORT - ANNOTATIONS


Term:hyperphosphatemic familial tumoral calcinosis
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Accession:DOID:0111063 term browser browse the term
Definition:A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene. (DO)
Synonyms:exact_synonym: HFTC;   HHS;   HYPEROSTOSIS WITH HYPERPHOSPHATEMIA;   Hyperphosphatemia Hyperostosis;   Hyperphosphatemia Tumoral Calcinosis;   Lipocalcinogranulomatosis;   Morbus Teutschlaender;   PHPTC;   Primary Hyperphosphatemic Tumoral Calcinosis;   cortical hyperostosis with hyperphosphatemia;   familial Teutschlaender disease;   familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome;   hypercalcemic tumoral calcinosis;   hyperostosis-hyperphosphatemia syndrome;   hyperphosphatemic tumoral calcinosis;   tumoral calcinosis with hyperphosphatemia
 primary_id: MESH:C538381;   MESH:C566870
 alt_id: RDO:0004356;   RDO:0015087
 xref: GARD:10879;   ORDO:306661
For additional species annotation, visit the Alliance of Genome Resources.


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hyperphosphatemic familial tumoral calcinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A2ml1 alpha-2-macroglobulin-like 1 JBrowse link 4 161,863,609 161,907,897 RGD:8554872
G Acrbp acrosin binding protein JBrowse link 4 157,563,990 157,577,045 RGD:8554872
G Acsm4 acyl-CoA synthetase medium-chain family member 4 JBrowse link 1 189,432,604 189,458,799 RGD:8554872
G Adipor2 adiponectin receptor 2 JBrowse link 4 151,412,135 151,480,108 RGD:8554872
G Aicda activation-induced cytidine deaminase JBrowse link 4 155,359,909 155,371,104 RGD:8554872
G Akap3 A-kinase anchoring protein 3 JBrowse link 4 159,399,686 159,425,512 RGD:8554872
G Ano2 anoctamin 2 JBrowse link 4 158,222,650 158,577,595 RGD:8554872
G Apobec1 apolipoprotein B mRNA editing enzyme catalytic subunit 1 JBrowse link 4 155,386,367 155,414,034 RGD:8554872
G Atn1 atrophin 1 JBrowse link 4 157,267,394 157,281,199 RGD:8554872
G B4galnt3 beta-1,4-N-acetyl-galactosaminyl transferase 3 JBrowse link 4 152,736,036 152,835,521 RGD:8554872
G C1r complement C1r JBrowse link 4 157,126,060 157,136,825 RGD:8554872
G C1rl complement C1r subcomponent like JBrowse link 4 157,108,190 157,122,689 RGD:8554872
G C1s complement C1s JBrowse link 4 157,143,592 157,155,592 RGD:8554872
G C3ar1 complement C3a receptor 1 JBrowse link 4 155,681,767 155,691,240 RGD:8554872
G Cacna1c calcium voltage-gated channel subunit alpha1 C JBrowse link 4 150,635,808 151,270,790 RGD:8554872
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 JBrowse link 4 151,298,548 151,409,263 RGD:8554872
G Ccdc77 coiled-coil domain containing 77 JBrowse link 4 152,860,669 152,892,518 RGD:8554872
G Ccnd2 cyclin D2 JBrowse link 4 159,674,885 159,697,207 RGD:8554872
G Cd163 CD163 molecule JBrowse link 4 156,752,063 156,785,467 RGD:8554872
G Cd27 CD27 molecule JBrowse link 4 157,744,881 157,751,609 RGD:8554872
G Cd4 Cd4 molecule JBrowse link 4 157,381,862 157,408,357 RGD:8554872
G Cd9 CD9 molecule JBrowse link 4 157,977,163 158,010,091 RGD:8554872
G Cdca3 cell division cycle associated 3 JBrowse link 4 157,347,876 157,351,889 RGD:8554872
G Chd4 chromodomain helicase DNA binding protein 4 JBrowse link 4 157,612,531 157,645,660 RGD:8554872
G Clec4a1 C-type lectin domain family 4, member A1 JBrowse link 4 155,947,794 155,959,909 RGD:8554872
G Clec4a3 C-type lectin domain family 4, member A3 JBrowse link 4 155,913,366 155,923,079 RGD:8554872
G Clec4b2 C-type lectin domain family 4, member B2 JBrowse link 4 156,107,720 156,131,226 RGD:8554872
G Clec4d C-type lectin domain family 4, member D JBrowse link 4 156,253,084 156,264,766 RGD:8554872
G Clec4e C-type lectin domain family 4, member E JBrowse link 4 156,271,087 156,276,243 RGD:8554872
G Clstn3 calsyntenin 3 JBrowse link 4 157,044,736 157,078,013 RGD:8554872
G Cops7a COP9 signalosome subunit 7A JBrowse link 4 157,479,549 157,486,944 RGD:8554872
G Cracr2a calcium release activated channel regulator 2A JBrowse link 4 160,143,160 160,238,744 RGD:8554872
G Dcp1b decapping mRNA 1B JBrowse link 4 151,249,654 151,287,018 RGD:8554872
G Dppa3 developmental pluripotency-associated 3 JBrowse link 4 155,437,675 155,441,059 RGD:8554872
G Dyrk4 dual specificity tyrosine phosphorylation regulated kinase 4 JBrowse link 4 159,426,447 159,467,973 RGD:8554872
G Emg1 EMG1 N1-specific pseudouridine methyltransferase JBrowse link 4 157,222,366 157,230,647 RGD:8554872
G Eno2 enolase 2 JBrowse link 4 157,285,192 157,294,090 RGD:8554872
G Erc1 ELKS/RAB6-interacting/CAST family member 1 JBrowse link 4 152,087,393 152,380,023 RGD:8554872
G Fam90a1 family with sequence similarity 90, member A1 JBrowse link 16 75,001,033 75,016,173 RGD:8554872
G Fbxl14 F-box and leucine-rich repeat protein 14 JBrowse link 4 151,986,890 151,990,706 RGD:8554872
G Fgf23 fibroblast growth factor 23 JBrowse link 4 159,622,404 159,630,082 RGD:8554872
G Fgf6 fibroblast growth factor 6 JBrowse link 4 159,563,798 159,572,333 RGD:8554872
G Fkbp4 FKBP prolyl isomerase 4 JBrowse link 4 161,748,993 161,757,447 RGD:8554872
G Foxj2 forkhead box J2 JBrowse link 4 155,653,446 155,679,815 RGD:8554872
G Foxm1 forkhead box M1 JBrowse link 4 161,685,236 161,697,633 RGD:8554872
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 JBrowse link 3 52,174,469 52,212,395 RGD:8554872
RGD:11554173
G Galnt8 polypeptide N-acetylgalactosaminyltransferase 8 JBrowse link 4 159,340,750 159,362,350 RGD:8554872
G Gapdh glyceraldehyde-3-phosphate dehydrogenase JBrowse link 4 157,676,336 157,680,322 RGD:8554872
G Gdf3 growth differentiation factor 3 JBrowse link 4 155,417,667 155,422,014 RGD:8554872
G Gnb3 G protein subunit beta 3 JBrowse link 4 157,352,558 157,359,237 RGD:8554872
G Gpr162 G protein-coupled receptor 162 JBrowse link 4 157,375,184 157,381,780 RGD:8554872
G Grcc10 gene rich cluster, C10 gene JBrowse link 4 157,264,383 157,266,042 RGD:8554872
G Iffo1 intermediate filament family orphan 1 JBrowse link 4 157,659,115 157,676,335 RGD:8554872
G Ing4 inhibitor of growth family, member 4 JBrowse link 4 157,554,729 157,563,353 RGD:8554872
G Iqsec3 IQ motif and Sec7 domain ArfGEF 3 JBrowse link 4 153,948,052 154,044,493 RGD:8554872
G Itfg2 integrin alpha FG-GAP repeat containing 2 JBrowse link 4 161,730,643 161,744,281 RGD:8554872
G Kcna1 potassium voltage-gated channel subfamily A member 1 JBrowse link 4 159,190,781 159,192,526 RGD:8554872
G Kcna5 potassium voltage-gated channel subfamily A member 5 JBrowse link 4 159,077,195 159,079,003 RGD:8554872
G Kcna6 potassium voltage-gated channel subfamily A member 6 JBrowse link 4 159,253,934 159,287,193 RGD:8554872
G Kdm5a lysine demethylase 5A JBrowse link 4 152,892,388 152,972,196 RGD:8554872
G Kl Klotho JBrowse link 12 942,974 987,206 RGD:8554872
RGD:13592920
G Klrg1 killer cell lectin like receptor G1 JBrowse link 4 155,038,936 155,051,449 RGD:8554872
G Lag3 lymphocyte activating 3 JBrowse link 4 157,425,644 157,433,700 RGD:8554872
G Lpar5 lysophosphatidic acid receptor 5 JBrowse link 4 157,581,000 157,596,454 RGD:8554872
G Lpcat3 lysophosphatidylcholine acyltransferase 3 JBrowse link 4 157,181,722 157,222,997 RGD:8554872
G Lrrc23 leucine rich repeat containing 23 JBrowse link 4 157,294,386 157,304,590 RGD:8554872
G Lrtm2 leucine-rich repeats and transmembrane domains 2 JBrowse link 4 151,375,568 151,397,485 RGD:8554872
G Ltbr lymphotoxin beta receptor JBrowse link 4 157,822,838 157,829,291 RGD:8554872
G M6pr mannose-6-phosphate receptor, cation dependent JBrowse link 4 155,084,755 155,093,896 RGD:8554872
G Mfap5 microfibril associated protein 5 JBrowse link 4 155,313,671 155,336,228 RGD:8554872
G Mir141 microRNA 141 JBrowse link 4 157,236,346 157,236,439 RGD:8554872
G Mir200c microRNA 200c JBrowse link 4 157,236,786 157,236,854 RGD:8554872
G Mlf2 myeloid leukemia factor 2 JBrowse link 4 157,452,578 157,457,254 RGD:8554872
G Mrpl51 mitochondrial ribosomal protein L51 JBrowse link 4 157,705,790 157,709,452 RGD:8554872
G Nanog Nanog homeobox JBrowse link 4 155,531,906 155,539,268 RGD:8554872
G Ncapd2 non-SMC condensin I complex, subunit D2 JBrowse link 4 157,682,855 157,705,903 RGD:8554872
G Ndufa9 NADH:ubiquinone oxidoreductase subunit A9 JBrowse link 4 159,371,263 159,399,636 RGD:8554872
G Necap1 NECAP endocytosis associated 1 JBrowse link 4 155,709,712 155,724,801 RGD:8554872
G Ninj2 ninjurin 2 JBrowse link 4 152,630,464 152,733,631 RGD:8554872
G Nop2 NOP2 nucleolar protein JBrowse link 4 157,646,759 157,658,502 RGD:8554872
G Nrip2 nuclear receptor interacting protein 2 JBrowse link 4 161,719,434 161,729,673 RGD:8554872
G Ntf3 neurotrophin 3 JBrowse link 4 158,636,883 158,705,886 RGD:8554872
G P3h3 prolyl 3-hydroxylase 3 JBrowse link 4 157,359,331 157,375,186 RGD:8554872
G Parp11 poly (ADP-ribose) polymerase family, member 11 JBrowse link 4 160,013,968 160,059,981 RGD:8554872
G Pex5 peroxisomal biogenesis factor 5 JBrowse link 4 156,983,914 157,009,675 RGD:8554872
G Phb2 prohibitin 2 JBrowse link 4 157,230,769 157,235,375 RGD:8554872
G Phc1 polyhomeotic homolog 1 JBrowse link 4 155,093,947 155,118,838 RGD:8554872
G Pianp PILR alpha associated neural protein JBrowse link 4 157,508,862 157,517,676 RGD:8554872
G Plekhg6 pleckstrin homology and RhoGEF domain containing G6 JBrowse link 4 157,877,725 157,897,167 RGD:8554872
G Prmt8 protein arginine methyltransferase 8 JBrowse link 4 160,253,409 160,334,647 RGD:8554872
G Ptms parathymosin JBrowse link 4 157,435,371 157,439,507 RGD:8554872
G Ptpn6 protein tyrosine phosphatase, non-receptor type 6 JBrowse link 4 157,239,141 157,263,890 RGD:8554872
G Rad51ap1 RAD51 associated protein 1 JBrowse link 4 159,469,803 159,482,869 RGD:8554872
G Rad52 RAD52 homolog, DNA repair protein JBrowse link 4 152,429,826 152,451,875 RGD:8554872
G RGD1311164 similar to DNA segment, Chr 6, Wayne State University 163, expressed JBrowse link 4 159,483,089 159,518,387 RGD:8554872
G Rhno1 RAD9-HUS1-RAD1 interacting nuclear orphan 1 JBrowse link 4 161,679,674 161,685,060 RGD:8554872
G Rimklb ribosomal modification protein rimK-like family member B JBrowse link 4 155,258,241 155,292,809 RGD:8554872
G Scnn1a sodium channel epithelial 1 alpha subunit JBrowse link 4 157,834,339 157,860,472 RGD:8554872
G Slc2a3 solute carrier family 2 member 3 JBrowse link 4 155,549,991 155,626,018 RGD:8554872
G Slc6a12 solute carrier family 6 member 12 JBrowse link 4 153,921,199 153,941,333 RGD:8554872
G Slc6a13 solute carrier family 6 member 13 JBrowse link 4 153,874,942 153,912,185 RGD:8554872
G Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 JBrowse link 4 157,325,980 157,328,380 RGD:8554872
G Tapbpl TAP binding protein-like JBrowse link 4 157,735,748 157,743,199 RGD:8554872
G Tead4 TEA domain transcription factor 4 JBrowse link 4 161,542,566 161,619,848 RGD:8554872
G Tex52 testis expressed 52 JBrowse link 4 161,696,884 161,708,793 RGD:8554872
G Tigar TP53 induced glycolysis regulatory phosphatase JBrowse link 4 159,635,145 159,654,108 RGD:8554872
G Tnfrsf1a TNF receptor superfamily member 1A JBrowse link 4 157,864,905 157,877,634 RGD:8554872
G Tpi1 triosephosphate isomerase 1 JBrowse link 4 157,328,375 157,331,905 RGD:8554872
G Tspan9 tetraspanin 9 JBrowse link 4 160,530,726 160,725,056 RGD:8554872
G Tulp3 TUB like protein 3 JBrowse link 4 161,636,084 161,677,807 RGD:8554872
G Usp5 ubiquitin specific peptidase 5 JBrowse link 4 157,332,735 157,347,803 RGD:8554872
G Vamp1 vesicle-associated membrane protein 1 JBrowse link 4 157,726,941 157,733,644 RGD:8554872
G Vwf von Willebrand factor JBrowse link 4 158,085,059 158,219,525 RGD:8554872
G Wnk1 WNK lysine deficient protein kinase 1 JBrowse link 4 152,452,211 152,578,469 RGD:8554872
G Wnt5b Wnt family member 5B JBrowse link 4 151,500,962 151,516,894 RGD:8554872
G Zfp384 zinc finger protein 384 JBrowse link 4 157,523,083 157,552,606 RGD:8554872
Hyperphosphatemic Familial Tumoral Calcinosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf23 fibroblast growth factor 23 JBrowse link 4 159,622,404 159,630,082 RGD:8554872
G Galnt3 polypeptide N-acetylgalactosaminyltransferase 3 JBrowse link 3 52,174,469 52,212,395 RGD:7240710
Hyperphosphatemic Familial Tumoral Calcinosis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf23 fibroblast growth factor 23 JBrowse link 4 159,622,404 159,630,082 RGD:8554872
RGD:7240710
Hyperphosphatemic Familial Tumoral Calcinosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kl Klotho JBrowse link 12 942,974 987,206 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    Nutritional and Metabolic Diseases 4361
      disease of metabolism 4361
        phosphorus metabolism disease 183
          hyperphosphatemia 118
            hyperphosphatemic familial tumoral calcinosis 116
              Hyperphosphatemic Familial Tumoral Calcinosis 1 2
              Hyperphosphatemic Familial Tumoral Calcinosis 2 1
              Hyperphosphatemic Familial Tumoral Calcinosis 3 1
Path 2
Term Annotations click to browse term
  disease 15590
    Nutritional and Metabolic Diseases 4361
      disease of metabolism 4361
        acquired metabolic disease 2693
          mineral metabolism disease 411
            phosphorus metabolism disease 183
              hyperphosphatemia 118
                hyperphosphatemic familial tumoral calcinosis 116
                  Hyperphosphatemic Familial Tumoral Calcinosis 1 2
                  Hyperphosphatemic Familial Tumoral Calcinosis 2 1
                  Hyperphosphatemic Familial Tumoral Calcinosis 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.