ONTOLOGY REPORT - ANNOTATIONS


Term:peroxisomal disease
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Accession:DOID:906 term browser browse the term
Definition:A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.
Synonyms:exact_synonym: Adrenoleukodystrophy, Autosomal Neonatal Form;   General Peroxisomal Dysfunction;   General Peroxisomal Dysfunctions;   Hyperpipecolatemia;   Hyperpipecolic Acidemia;   Hyperpipecolic Acidemias;   Multiple Peroxisomal Dysfunction;   Multiple Peroxisomal Dysfunctions;   Neonatal Adrenoleukodystrophies;   Neonatal Adrenoleukodystrophy;   Peroxisomal Disorder;   Peroxisomal Disorders;   Single Peroxisomal Dysfunction;   Single Peroxisomal Dysfunctions
 primary_id: MESH:D018901;   RDO:0002308
For additional species annotation, visit the Alliance of Genome Resources.


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peroxisomal disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 44,810,462 44,897,677 RGD:11554173
G Pex10 peroxisomal biogenesis factor 10 JBrowse link 5 172,469,978 172,475,144 RGD:13207455
G Pex5 peroxisomal biogenesis factor 5 JBrowse link 4 156,983,914 157,009,675 RGD:13207458
G Pex6 peroxisomal biogenesis factor 6 JBrowse link 9 16,568,743 16,580,900 RGD:729462
G Phyh phytanoyl-CoA 2-hydroxylase JBrowse link 17 77,287,580 77,304,482 RGD:13831311
G Pipox pipecolic acid and sarcosine oxidase JBrowse link 10 64,951,986 64,964,865 RGD:11554173
acatalasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cat catalase JBrowse link 3 93,379,872 93,412,058 RGD:8554872
RGD:7240710
RGD:11554173
adrenoleukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcd1 ATP binding cassette subfamily D member 1 JBrowse link X 157,073,860 157,095,652 RGD:1598655
RGD:8554872
RGD:11554173
RGD:7240710
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 JBrowse link 8 59,184,111 59,240,133 RGD:11065111
G Hmox1 heme oxygenase 1 JBrowse link 19 14,508,634 14,515,455 RGD:11554173
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11554173
G Mmp10 matrix metallopeptidase 10 JBrowse link 8 5,734,348 5,742,243 RGD:13204814
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:13204814
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:13204814
G Pex13 peroxisomal biogenesis factor 13 JBrowse link 14 108,394,299 108,411,994 RGD:11554173
G Pex26 peroxisomal biogenesis factor 26 JBrowse link 4 153,747,715 153,760,446 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:13204814
Adult Refsum Disease, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex7 peroxisomal biogenesis factor 7 JBrowse link 1 15,311,768 15,374,702 RGD:8554872
G Phyh phytanoyl-CoA 2-hydroxylase JBrowse link 17 77,287,580 77,304,482 RGD:8554872
alpha-methylacyl-CoA racemase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amacr alpha-methylacyl-CoA racemase JBrowse link 2 60,949,276 60,961,342 RGD:7240710
RGD:8554872
G Slc45a2 solute carrier family 45, member 2 JBrowse link 2 60,966,671 60,999,398 RGD:8554872
Cerebrohepatorenal Syndrome, Variant Types term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex5 peroxisomal biogenesis factor 5 JBrowse link 4 156,983,914 157,009,675 RGD:8554872
Charcot-Marie-Tooth disease type 4D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ndrg1 N-myc downstream regulated 1 JBrowse link 7 107,734,326 107,775,701 RGD:8554872
RGD:7240710
congenital bile acid synthesis defect 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amacr alpha-methylacyl-CoA racemase JBrowse link 2 60,949,276 60,961,342 RGD:7240710
RGD:8554872
D-bifunctional protein deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 44,810,462 44,897,677 RGD:1599968
RGD:10411884
RGD:7240710
infantile Refsum disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gatad1 GATA zinc finger domain containing 1 JBrowse link 4 27,647,005 27,658,533 RGD:8554872
G Pex1 peroxisomal biogenesis factor 1 JBrowse link 4 27,659,376 27,698,037 RGD:7240710
RGD:8554872
G Pex12 peroxisomal biogenesis factor 12 JBrowse link 10 70,512,785 70,516,494 RGD:8554872
G Pex2 peroxisomal biogenesis factor 2 JBrowse link 2 98,251,756 98,269,185 RGD:11554173
G Pex26 peroxisomal biogenesis factor 26 JBrowse link 4 153,747,715 153,760,446 RGD:11554173
mevalonic aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crp C-reactive protein JBrowse link 13 91,080,448 91,081,358 RGD:9585642
G Mmab metabolism of cobalamin associated B JBrowse link 12 47,920,712 47,935,438 RGD:8554872
G Mvk mevalonate kinase JBrowse link 12 47,904,266 47,920,457 RGD:7240710
RGD:8554872
RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:9585642
peroxisomal acyl-CoA oxidase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acox1 acyl-CoA oxidase 1 JBrowse link 10 104,724,534 104,748,003 RGD:7240710
RGD:8554872
G Ten1 TEN1 subunit of CST complex JBrowse link 10 105,073,077 105,095,094 RGD:8554872
peroxisomal biogenesis disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex1 peroxisomal biogenesis factor 1 JBrowse link 4 27,659,376 27,698,037 RGD:11554173
G Pex10 peroxisomal biogenesis factor 10 JBrowse link 5 172,469,978 172,475,144 RGD:11554173
G Pex12 peroxisomal biogenesis factor 12 JBrowse link 10 70,512,785 70,516,494 RGD:11554173
G Pex13 peroxisomal biogenesis factor 13 JBrowse link 14 108,394,299 108,411,994 RGD:11554173
G Pex14 peroxisomal biogenesis factor 14 JBrowse link 5 165,782,895 165,918,445 RGD:11554173
G Pex16 peroxisomal biogenesis factor 16 JBrowse link 3 81,283,137 81,292,575 RGD:11554173
G Pex19 peroxisomal biogenesis factor 19 JBrowse link 13 90,514,324 90,530,825 RGD:11554173
G Pex2 peroxisomal biogenesis factor 2 JBrowse link 2 98,251,756 98,269,185 RGD:11554173
G Pex26 peroxisomal biogenesis factor 26 JBrowse link 4 153,747,715 153,760,446 RGD:11554173
G Pex3 peroxisomal biogenesis factor 3 JBrowse link 1 7,685,209 7,726,238 RGD:11554173
G Pex6 peroxisomal biogenesis factor 6 JBrowse link 9 16,568,743 16,580,900 RGD:11554173
peroxisome biogenesis disorder 10A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex3 peroxisomal biogenesis factor 3 JBrowse link 1 7,685,209 7,726,238 RGD:7240710
RGD:8554872
PEROXISOME BIOGENESIS DISORDER 10B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex3 peroxisomal biogenesis factor 3 JBrowse link 1 7,685,209 7,726,238 RGD:8554872
RGD:7240710
peroxisome biogenesis disorder 11A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gatad1 GATA zinc finger domain containing 1 JBrowse link 4 27,647,005 27,658,533 RGD:8554872
G Pex1 peroxisomal biogenesis factor 1 JBrowse link 4 27,659,376 27,698,037 RGD:8554872
G Pex13 peroxisomal biogenesis factor 13 JBrowse link 14 108,394,299 108,411,994 RGD:7240710
RGD:8554872
G Pus10 pseudouridine synthase 10 JBrowse link 14 108,411,941 108,479,696 RGD:8554872
Peroxisome Biogenesis Disorder 11B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gatad1 GATA zinc finger domain containing 1 JBrowse link 4 27,647,005 27,658,533 RGD:8554872
G Pex1 peroxisomal biogenesis factor 1 JBrowse link 4 27,659,376 27,698,037 RGD:8554872
G Pex13 peroxisomal biogenesis factor 13 JBrowse link 14 108,394,299 108,411,994 RGD:7240710
RGD:8554872
peroxisome biogenesis disorder 12A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex19 peroxisomal biogenesis factor 19 JBrowse link 13 90,514,324 90,530,825 RGD:7240710
RGD:8554872
peroxisome biogenesis disorder 13A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex14 peroxisomal biogenesis factor 14 JBrowse link 5 165,782,895 165,918,445 RGD:7240710
RGD:8554872
Peroxisome Biogenesis Disorder 14B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex11b peroxisomal biogenesis factor 11 beta JBrowse link 2 198,762,138 198,771,040 RGD:7240710
RGD:8554872
peroxisome biogenesis disorder 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex1 peroxisomal biogenesis factor 1 JBrowse link 4 27,659,376 27,698,037 RGD:7240710
G Pex5 peroxisomal biogenesis factor 5 JBrowse link 4 156,983,914 157,009,675 RGD:8554872
G Pex6 peroxisomal biogenesis factor 6 JBrowse link 9 16,568,743 16,580,900 RGD:8554872
peroxisome biogenesis disorder 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex5 peroxisomal biogenesis factor 5 JBrowse link 4 156,983,914 157,009,675 RGD:7240710
RGD:8554872
Peroxisome Biogenesis Disorder 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex5 peroxisomal biogenesis factor 5 JBrowse link 4 156,983,914 157,009,675 RGD:7240710
RGD:8554872
peroxisome biogenesis disorder 3A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex12 peroxisomal biogenesis factor 12 JBrowse link 10 70,512,785 70,516,494 RGD:7240710
RGD:8554872
Peroxisome Biogenesis Disorder 3B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex12 peroxisomal biogenesis factor 12 JBrowse link 10 70,512,785 70,516,494 RGD:7240710
RGD:8554872
peroxisome biogenesis disorder 4A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex6 peroxisomal biogenesis factor 6 JBrowse link 9 16,568,743 16,580,900 RGD:7240710
RGD:8554872
Peroxisome Biogenesis Disorder 4B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex6 peroxisomal biogenesis factor 6 JBrowse link 9 16,568,743 16,580,900 RGD:7240710
RGD:8554872
Peroxisome Biogenesis Disorder 4C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex6 peroxisomal biogenesis factor 6 JBrowse link 9 16,568,743 16,580,900 RGD:7240710
RGD:8554872
peroxisome biogenesis disorder 5A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex2 peroxisomal biogenesis factor 2 JBrowse link 2 98,251,756 98,269,185 RGD:7240710
RGD:8554872
Peroxisome Biogenesis Disorder 5B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex2 peroxisomal biogenesis factor 2 JBrowse link 2 98,251,756 98,269,185 RGD:7240710
RGD:8554872
peroxisome biogenesis disorder 6A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex10 peroxisomal biogenesis factor 10 JBrowse link 5 172,469,978 172,475,144 RGD:7240710
RGD:8554872
G Plch2 phospholipase C, eta 2 JBrowse link 5 172,386,400 172,455,965 RGD:8554872
Peroxisome Biogenesis Disorder 6B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex10 peroxisomal biogenesis factor 10 JBrowse link 5 172,469,978 172,475,144 RGD:7240710
RGD:8554872
G Plch2 phospholipase C, eta 2 JBrowse link 5 172,386,400 172,455,965 RGD:8554872
peroxisome biogenesis disorder 7A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex26 peroxisomal biogenesis factor 26 JBrowse link 4 153,747,715 153,760,446 RGD:7240710
RGD:8554872
Peroxisome Biogenesis Disorder 7B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex26 peroxisomal biogenesis factor 26 JBrowse link 4 153,747,715 153,760,446 RGD:7240710
RGD:8554872
peroxisome biogenesis disorder 8A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex16 peroxisomal biogenesis factor 16 JBrowse link 3 81,283,137 81,292,575 RGD:7240710
RGD:8554872
Peroxisome Biogenesis Disorder 8B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex16 peroxisomal biogenesis factor 16 JBrowse link 3 81,283,137 81,292,575 RGD:7240710
RGD:8554872
PEROXISOME BIOGENESIS DISORDER 9B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex7 peroxisomal biogenesis factor 7 JBrowse link 1 15,311,768 15,374,702 RGD:7240710
RGD:8554872
Peroxisome Biogenesis Disorder, Complementation Group 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex10 peroxisomal biogenesis factor 10 JBrowse link 5 172,469,978 172,475,144 RGD:8554872
Peroxisome Biogenesis Disorder, Complementation Group K term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex14 peroxisomal biogenesis factor 14 JBrowse link 5 165,782,895 165,918,445 RGD:8554872
Refsum disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex7 peroxisomal biogenesis factor 7 JBrowse link 1 15,311,768 15,374,702 RGD:8554872
RGD:11554173
G Phyh phytanoyl-CoA 2-hydroxylase JBrowse link 17 77,287,580 77,304,482 RGD:7240710
RGD:8554872
RGD:13831337
RGD:13831313
RGD:11554173
rhizomelic chondrodysplasia punctata term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agps alkylglycerone phosphate synthase JBrowse link 3 62,648,352 62,749,250 RGD:1300366
RGD:8554872
G Gnpat glyceronephosphate O-acyltransferase JBrowse link 19 57,614,813 57,640,524 RGD:8554872
G Pex5 peroxisomal biogenesis factor 5 JBrowse link 4 156,983,914 157,009,675 RGD:8554872
G Pex7 peroxisomal biogenesis factor 7 JBrowse link 1 15,311,768 15,374,702 RGD:11554173
RGD:8554872
rhizomelic chondrodysplasia punctata type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex7 peroxisomal biogenesis factor 7 JBrowse link 1 15,311,768 15,374,702 RGD:7240710
RGD:8554872
RGD:13208515
RGD:11554173
rhizomelic chondrodysplasia punctata type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gnpat glyceronephosphate O-acyltransferase JBrowse link 19 57,614,813 57,640,524 RGD:7240710
RGD:8554872
rhizomelic chondrodysplasia punctata type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agps alkylglycerone phosphate synthase JBrowse link 3 62,648,352 62,749,250 RGD:7240710
RGD:8554872
rhizomelic chondrodysplasia punctata type 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pex5 peroxisomal biogenesis factor 5 JBrowse link 4 156,983,914 157,009,675 RGD:7240710
RGD:8554872
Zellweger syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcd3 ATP binding cassette subfamily D member 3 JBrowse link 2 225,335,708 225,389,120 RGD:1598658
RGD:11554173
G Cyp27a1 cytochrome P450, family 27, subfamily a, polypeptide 1 JBrowse link 9 81,968,285 81,998,213 RGD:13782195
G Gatad1 GATA zinc finger domain containing 1 JBrowse link 4 27,647,005 27,658,533 RGD:8554872
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 JBrowse link 18 44,810,462 44,897,677 RGD:11554173
G Nr5a1 nuclear receptor subfamily 5, group A, member 1 JBrowse link 3 22,998,900 23,020,441 RGD:11062374
G Pex1 peroxisomal biogenesis factor 1 JBrowse link 4 27,659,376 27,698,037 RGD:8554872
RGD:11554173
G Pex10 peroxisomal biogenesis factor 10 JBrowse link 5 172,469,978 172,475,144 RGD:11554173
RGD:8554872
G Pex11b peroxisomal biogenesis factor 11 beta JBrowse link 2 198,762,138 198,771,040 RGD:13592920
G Pex12 peroxisomal biogenesis factor 12 JBrowse link 10 70,512,785 70,516,494 RGD:11554173
RGD:8554872
G Pex13 peroxisomal biogenesis factor 13 JBrowse link 14 108,394,299 108,411,994 RGD:11554173
RGD:8554872
G Pex14 peroxisomal biogenesis factor 14 JBrowse link 5 165,782,895 165,918,445 RGD:11554173
RGD:8554872
G Pex16 peroxisomal biogenesis factor 16 JBrowse link 3 81,283,137 81,292,575 RGD:11554173
RGD:8554872
G Pex19 peroxisomal biogenesis factor 19 JBrowse link 13 90,514,324 90,530,825 RGD:11554173
RGD:8554872
G Pex2 peroxisomal biogenesis factor 2 JBrowse link 2 98,251,756 98,269,185 RGD:11554173
RGD:8554872
RGD:13207457
RGD:13207456
G Pex26 peroxisomal biogenesis factor 26 JBrowse link 4 153,747,715 153,760,446 RGD:11554173
RGD:8554872
G Pex3 peroxisomal biogenesis factor 3 JBrowse link 1 7,685,209 7,726,238 RGD:11554173
RGD:8554872
G Pex5 peroxisomal biogenesis factor 5 JBrowse link 4 156,983,914 157,009,675 RGD:8554872
G Pex6 peroxisomal biogenesis factor 6 JBrowse link 9 16,568,743 16,580,900 RGD:11554173
RGD:8554872
G Phyh phytanoyl-CoA 2-hydroxylase JBrowse link 17 77,287,580 77,304,482 RGD:13831312
RGD:13831337
G Plch2 phospholipase C, eta 2 JBrowse link 5 172,386,400 172,455,965 RGD:8554872
G Pus10 pseudouridine synthase 10 JBrowse link 14 108,411,941 108,479,696 RGD:8554872
G Rer1 retention in endoplasmic reticulum sorting receptor 1 JBrowse link 5 172,476,746 172,488,822 RGD:8554872
G Scp2 sterol carrier protein 2 JBrowse link 5 127,647,934 127,735,703 RGD:13782196
Zellweger Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcd3 ATP binding cassette subfamily D member 3 JBrowse link 2 225,335,708 225,389,120 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14919
    Nutritional and Metabolic Diseases 4263
      disease of metabolism 4263
        inherited metabolic disorder 1820
          peroxisomal disease 46
            D-bifunctional protein deficiency 1
            Refsum disease + 8
            acatalasia 1
            adrenoleukodystrophy + 14
            alpha-methylacyl-CoA racemase deficiency 2
            congenital bile acid synthesis defect 4 1
            mevalonic aciduria 4
            peroxisomal acyl-CoA oxidase deficiency 2
            peroxisomal biogenesis disorder + 24
            rhizomelic chondrodysplasia punctata + 4
Path 2
Term Annotations click to browse term
  disease 14919
    Developmental Diseases 7761
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7082
        genetic disease 6388
          inherited metabolic disorder 1820
            peroxisomal disease 46
              D-bifunctional protein deficiency 1
              Refsum disease + 8
              acatalasia 1
              adrenoleukodystrophy + 14
              alpha-methylacyl-CoA racemase deficiency 2
              congenital bile acid synthesis defect 4 1
              mevalonic aciduria 4
              peroxisomal acyl-CoA oxidase deficiency 2
              peroxisomal biogenesis disorder + 24
              rhizomelic chondrodysplasia punctata + 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.