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ONTOLOGY REPORT - ANNOTATIONS


Term:Malabsorption Syndromes
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Accession:DOID:9002984 term browser browse the term
Definition:General term for a group of MALNUTRITION syndromes caused by failure of normal INTESTINAL ABSORPTION of nutrients.
Synonyms:exact_synonym: Malabsorption Syndrome
 primary_id: MESH:D008286;   RDO:0000585
For additional species annotation, visit the Alliance of Genome Resources.


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Malabsorption Syndromes term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc46a1 solute carrier family 46 member 1 JBrowse link 10 65,728,508 65,741,708 RGD:11554173
G Slc5a1 solute carrier family 5 member 1 JBrowse link 14 82,910,448 82,975,303 RGD:1624257
Bile Acid Malabsorption, Primary term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc10a2 solute carrier family 10 member 2 JBrowse link 16 90,324,420 90,350,254 RGD:7240710
celiac disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bach2 BTB domain and CNC homolog 2 JBrowse link 5 47,458,891 47,807,176 RGD:11554173
G Ccr4 C-C motif chemokine receptor 4 JBrowse link 8 122,530,152 122,535,959 RGD:11554173
G Cd14 CD14 molecule JBrowse link 18 29,560,341 29,562,290 RGD:2314152
G Cd80 Cd80 molecule JBrowse link 11 64,815,201 64,855,293 RGD:11554173
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 JBrowse link 9 67,699,397 67,706,068 RGD:1300387
RGD:8554872
RGD:11344917
RGD:7240710
G Ets1 ETS proto-oncogene 1, transcription factor JBrowse link 8 33,756,634 33,879,625 RGD:11554173
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:7387257
G Icos inducible T-cell co-stimulator JBrowse link 9 67,748,157 67,786,808 RGD:11344917
G Icoslg inducible T-cell co-stimulator ligand JBrowse link 20 11,330,000 11,340,307 RGD:11554173
G Il15 interleukin 15 JBrowse link 19 23,542,606 23,624,366 RGD:11554173
G Il21 interleukin 21 JBrowse link 2 123,965,021 123,972,356 RGD:11554173
G Il23r interleukin 23 receptor JBrowse link 4 98,203,788 98,306,729 RGD:8549604
RGD:8549631
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:2307292
G Myo9b myosin IXb JBrowse link 16 19,669,373 19,754,065 RGD:7240710
RGD:8554872
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:5509924
G Pon3 paraoxonase 3 JBrowse link 4 30,311,981 30,338,679 RGD:5509924
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:2301813
RGD:7240710
RGD:5147854
RGD:5147808
RGD:5147791
RGD:5147789
RGD:5147625
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:5147625
RGD:7240710
RGD:5147854
RGD:5147808
RGD:5147791
RGD:5147789
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:5147803
G Runx3 runt-related transcription factor 3 JBrowse link 5 153,507,093 153,531,137 RGD:11554173
G Tfrc transferrin receptor JBrowse link 11 71,397,423 71,419,263 RGD:11062102
G Tgm2 transglutaminase 2 JBrowse link 3 154,597,165 154,627,257 RGD:11554173
G Themis thymocyte selection associated JBrowse link 1 17,152,973 17,378,225 RGD:11554173
G Tnfrsf14 TNF receptor superfamily member 14 JBrowse link 5 172,328,259 172,337,221 RGD:11554173
G Zmiz1 zinc finger, MIZ-type containing 1 JBrowse link 16 1,749,191 1,954,633 RGD:11554173
chylomicron retention disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitpna phosphatidylinositol transfer protein, alpha JBrowse link 10 63,731,767 63,772,049 RGD:13592920
G Sar1b secretion associated, Ras related GTPase 1B JBrowse link 10 37,215,989 37,245,603 RGD:7240710
RGD:8554872
congenital diarrhea 5 with tufting enteropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epcam epithelial cell adhesion molecule JBrowse link 6 11,282,194 11,308,870 RGD:7240710
RGD:8554872
congenital malabsorptive diarrhea 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Neurog3 neurogenin 3 JBrowse link 20 31,761,419 31,762,893 RGD:7240710
RGD:8554872
cystathioninuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cth cystathionine gamma-lyase JBrowse link 2 264,266,959 264,293,040 RGD:7240710
RGD:8554872
Folate Malabsorption, Hereditary term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sarm1 sterile alpha and TIR motif containing 1 JBrowse link 10 65,742,343 65,766,050 RGD:8554872
G Slc46a1 solute carrier family 46 member 1 JBrowse link 10 65,728,508 65,741,708 RGD:7240710
RGD:8554872
Glucose-Galactose Malabsorption term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc5a1 solute carrier family 5 member 1 JBrowse link 14 82,910,448 82,975,303 RGD:7240710
RGD:8554872
homocystinuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:1600622
RGD:8554872
RGD:7240710
G Fcrl2 Fc receptor-like 2 JBrowse link 2 186,594,442 186,605,115 RGD:1601421
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:1601421
RGD:13592920
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:5508189
RGD:11554173
G Pkhd1 PKHD1, fibrocystin/polyductin JBrowse link 9 26,164,969 26,736,704 RGD:8554872
Homocystinuria, Pyridoxine-Responsive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:8554872
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:7240710
RGD:8554872
hyperhomocysteinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahcy adenosylhomocysteinase JBrowse link 3 150,587,833 150,603,057 RGD:1598896
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:6903856
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 JBrowse link 2 204,003,742 204,032,023 RGD:11576285
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 JBrowse link 13 90,651,682 90,676,629 RGD:11576285
G Bche butyrylcholinesterase JBrowse link 2 171,104,476 171,196,186 RGD:1599454
G Casp1 caspase 1 JBrowse link 8 2,605,743 2,614,637 RGD:11554173
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:1600624
RGD:11554173
G Ccl2 C-C motif chemokine ligand 2 JBrowse link 10 69,412,065 69,413,863 RGD:8549578
G Cth cystathionine gamma-lyase JBrowse link 2 264,266,959 264,293,040 RGD:8554872
G Cxcl1 C-X-C motif chemokine ligand 1 JBrowse link 14 18,743,678 18,745,457 RGD:5135249
G Cxcl6 C-X-C motif chemokine ligand 6 JBrowse link 14 18,860,201 18,920,839 RGD:5135249
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:11554173
G Ece1 endothelin converting enzyme 1 JBrowse link 5 156,215,469 156,318,652 RGD:4892572
G Ednra endothelin receptor type A JBrowse link 19 33,928,356 33,991,703 RGD:4892572
G F10 coagulation factor X JBrowse link 16 81,803,169 81,822,476 RGD:1601105
G F12 coagulation factor XII JBrowse link 17 9,736,577 9,744,420 RGD:1601105
G F2 coagulation factor II JBrowse link 3 80,529,468 80,542,993 RGD:1601105
G F8 coagulation factor VIII JBrowse link 18 367,862 399,242 RGD:1601105
G Fcrl2 Fc receptor-like 2 JBrowse link 2 186,594,442 186,605,115 RGD:1601421
G G6pd glucose-6-phosphate dehydrogenase JBrowse link X 156,274,800 156,293,935 RGD:10449171
G Gnmt glycine N-methyltransferase JBrowse link 9 16,565,274 16,568,626 RGD:11554173
G Gpx1 glutathione peroxidase 1 JBrowse link 8 117,117,430 117,118,528 RGD:11035307
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 JBrowse link 10 42,441,723 42,760,200 RGD:13792697
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A JBrowse link 10 5,707,806 6,123,568 RGD:13792697
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:13792697
G Icam1 intercellular adhesion molecule 1 JBrowse link 8 22,035,287 22,047,049 RGD:4144131
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:7175168
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204791
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:1601421
RGD:11554173
RGD:10449400
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:1601425
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase JBrowse link 1 37,743,089 37,774,485 RGD:11554173
G Ngf nerve growth factor JBrowse link 2 204,886,158 204,939,523 RGD:5144149
G Nphs1 NPHS1 nephrin JBrowse link 1 88,922,346 88,950,560 RGD:11554173
G Nppb natriuretic peptide B JBrowse link 5 164,796,176 164,797,538 RGD:1642265
G Pon1 paraoxonase 1 JBrowse link 4 30,249,749 30,276,297 RGD:11554173
G Pycard PYD and CARD domain containing JBrowse link 1 199,438,029 199,439,062 RGD:11554173
G Slc46a1 solute carrier family 46 member 1 JBrowse link 10 65,728,508 65,741,708 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11035307
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:13204791
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
Imerslund-Grasbeck Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amn amnion associated transmembrane protein JBrowse link 6 135,724,455 135,731,896 RGD:7240710
RGD:8554872
RGD:11071839
G Cblif cobalamin binding intrinsic factor JBrowse link 1 228,118,048 228,132,296 RGD:11049583
RGD:11049586
G Cubn cubilin JBrowse link 17 80,584,921 80,807,181 RGD:61796
RGD:8554872
RGD:7240710
G Traf3 Tnf receptor-associated factor 3 JBrowse link 6 135,610,698 135,720,247 RGD:8554872
lactose intolerance term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lct lactase JBrowse link 13 44,998,414 45,040,593 RGD:8554872
G Mcm6 minichromosome maintenance complex component 6 JBrowse link 13 45,042,882 45,068,073 RGD:13592920
Lactose Intolerance, Adult Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mcm6 minichromosome maintenance complex component 6 JBrowse link 13 45,042,882 45,068,073 RGD:7240710
RGD:8554872
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:7240710
RGD:8554872
methylmalonic aciduria and homocystinuria type cblC term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mfn2 mitofusin 2 JBrowse link 5 164,684,244 164,715,414 RGD:8554872
G Mmachc metabolism of cobalamin associated C JBrowse link 5 135,555,587 135,561,723 RGD:7240710
RGD:8554872
G Msh6 mutS homolog 6 JBrowse link 6 11,644,565 11,662,389 RGD:8554872
G Nod2 nucleotide-binding oligomerization domain containing 2 JBrowse link 19 19,342,061 19,389,366 RGD:8554872
G Prdx1 peroxiredoxin 1 JBrowse link 5 135,536,413 135,551,986 RGD:11554173
RGD:7240710
RGD:8554872
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Ryr2 ryanodine receptor 2 JBrowse link 17 65,533,998 65,955,606 RGD:8554872
Methylmalonic Aciduria and Homocystinuria, cblJ Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcd4 ATP binding cassette subfamily D member 4 JBrowse link 6 108,315,026 108,329,550 RGD:7240710
RGD:8554872
microvillus inclusion disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdc42 cell division cycle 42 JBrowse link 5 155,690,267 155,728,385 RGD:13592920
G Myo5b myosin Vb JBrowse link 18 70,426,865 70,729,985 RGD:7240710
RGD:8554872
Mthfr Deficiency, Thermolabile Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:8554872
short bowel syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Insr insulin receptor JBrowse link 12 1,682,527 1,816,414 RGD:10403044
G Lep leptin JBrowse link 4 56,337,695 56,351,818 RGD:5128624
G Lepr leptin receptor JBrowse link 5 120,503,475 120,682,281 RGD:5128624

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Malabsorption Syndromes 90
        Collagenous Sprue 0
        Folate Malabsorption, Hereditary 2
        Glucose-Galactose Malabsorption 1
        Imerslund-Grasbeck Syndrome 4
        Lysine Malabsorption Syndrome 0
        Whipple disease + 0
        blind loop syndrome 0
        celiac disease 25
        chylomicron retention disease 2
        congenital diarrhea 5 with tufting enteropathy 1
        congenital malabsorptive diarrhea 4 1
        hyperhomocysteinemia + 49
        lactose intolerance + 2
        microvillus inclusion disease 2
        short bowel syndrome 3
        steatorrhea + 1
        tropical sprue 0
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      gastrointestinal system disease 4240
        Gastrointestinal Diseases 2343
          intestinal disease 1302
            Malabsorption Syndromes 90
              Collagenous Sprue 0
              Folate Malabsorption, Hereditary 2
              Glucose-Galactose Malabsorption 1
              Imerslund-Grasbeck Syndrome 4
              Lysine Malabsorption Syndrome 0
              Whipple disease + 0
              blind loop syndrome 0
              celiac disease 25
              chylomicron retention disease 2
              congenital diarrhea 5 with tufting enteropathy 1
              congenital malabsorptive diarrhea 4 1
              hyperhomocysteinemia + 49
              lactose intolerance + 2
              microvillus inclusion disease 2
              short bowel syndrome 3
              steatorrhea + 1
              tropical sprue 0
paths to the root