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ONTOLOGY REPORT - ANNOTATIONS


Term:peroxisomal biogenesis disorder
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Accession:DOID:0080377 term browser browse the term
Definition:A peroxisomal biogenesis disorder that has_material_basis_in defects in PEX genes. (DO)
Synonyms:exact_synonym: peroxisome biogenesis disorders
 primary_id: MESH:C536664
 xref: OMIM:PS214100
For additional species annotation, visit the Alliance of Genome Resources.


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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
Heimler syndrome 1 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
RGD:7240710
G Pex6 peroxisomal biogenesis factor 6 JBrowse link 9 16,568,743 16,580,900 RGD:11554173
Heimler syndrome 2 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
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
G Pex5 peroxisomal biogenesis factor 5 JBrowse link 4 156,983,914 157,009,675 RGD:8554872
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 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 Pex10 peroxisomal biogenesis factor 10 JBrowse link 5 172,469,978 172,475,144 RGD:8554872
G Pex12 peroxisomal biogenesis factor 12 JBrowse link 10 70,512,785 70,516,494 RGD:8554872
G Pex13 peroxisomal biogenesis factor 13 JBrowse link 14 108,394,299 108,411,994 RGD:8554872
G Pex14 peroxisomal biogenesis factor 14 JBrowse link 5 165,782,895 165,918,445 RGD:8554872
G Pex16 peroxisomal biogenesis factor 16 JBrowse link 3 81,283,137 81,292,575 RGD:8554872
G Pex19 peroxisomal biogenesis factor 19 JBrowse link 13 90,514,324 90,530,825 RGD:8554872
G Pex2 peroxisomal biogenesis factor 2 JBrowse link 2 98,251,756 98,269,185 RGD:8554872
G Pex26 peroxisomal biogenesis factor 26 JBrowse link 4 153,747,715 153,760,446 RGD:8554872
G Pex3 peroxisomal biogenesis factor 3 JBrowse link 1 7,685,209 7,726,238 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:8554872
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
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
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 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
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 Il2 interleukin 2 JBrowse link 2 123,847,150 123,851,854 RGD:14747040
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 15609
    Nutritional and Metabolic Diseases 4391
      disease of metabolism 4391
        inherited metabolic disorder 1909
          peroxisomal disease 85
            peroxisomal biogenesis disorder 25
              Heimler syndrome 1 3
              Heimler syndrome 2 1
              Peroxisome Biogenesis Disorder 10B 1
              Peroxisome Biogenesis Disorder 11B 3
              Peroxisome Biogenesis Disorder 3B 1
              Peroxisome Biogenesis Disorder 4B 1
              Peroxisome Biogenesis Disorder 5B 1
              Peroxisome Biogenesis Disorder 6B 2
              Peroxisome Biogenesis Disorder 7B 1
              Peroxisome Biogenesis Disorder 8B 1
              Peroxisome Biogenesis Disorder, Complementation Group 1 + 6
              Peroxisome Biogenesis Disorder, Complementation Group 11 0
              Peroxisome Biogenesis Disorder, Complementation Group 12 0
              Peroxisome Biogenesis Disorder, Complementation Group 13 0
              Peroxisome Biogenesis Disorder, Complementation Group 14 + 1
              Peroxisome Biogenesis Disorder, Complementation Group 7 1
              Peroxisome Biogenesis Disorder, Complementation Group 9 + 1
              Peroxisome Biogenesis Disorder, Complementation Group D 0
              Peroxisome Biogenesis Disorder, Complementation Group E 0
              Peroxisome Biogenesis Disorder, Complementation Group G 0
              Peroxisome Biogenesis Disorder, Complementation Group H 0
              Peroxisome Biogenesis Disorder, Complementation Group J 0
              Peroxisome Biogenesis Disorder, Complementation Group K 1
              Peroxisome Biogenesis Disorder, Complementation Group R 0
              Zellweger syndrome + 24
              peroxisome biogenesis disorder 10A 1
              peroxisome biogenesis disorder 11A 4
              peroxisome biogenesis disorder 12A 1
              peroxisome biogenesis disorder 13A 1
              peroxisome biogenesis disorder 1A 16
              peroxisome biogenesis disorder 2A 1
              peroxisome biogenesis disorder 2B 1
              peroxisome biogenesis disorder 3A 1
              peroxisome biogenesis disorder 4A 1
              peroxisome biogenesis disorder 5A 1
              peroxisome biogenesis disorder 6A 2
              peroxisome biogenesis disorder 7A 1
              peroxisome biogenesis disorder 8A 1
Path 2
Term Annotations click to browse term
  disease 15609
    Developmental Diseases 8986
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7802
        genetic disease 7293
          inherited metabolic disorder 1909
            peroxisomal disease 85
              peroxisomal biogenesis disorder 25
                Heimler syndrome 1 3
                Heimler syndrome 2 1
                Peroxisome Biogenesis Disorder 10B 1
                Peroxisome Biogenesis Disorder 11B 3
                Peroxisome Biogenesis Disorder 3B 1
                Peroxisome Biogenesis Disorder 4B 1
                Peroxisome Biogenesis Disorder 5B 1
                Peroxisome Biogenesis Disorder 6B 2
                Peroxisome Biogenesis Disorder 7B 1
                Peroxisome Biogenesis Disorder 8B 1
                Peroxisome Biogenesis Disorder, Complementation Group 1 + 6
                Peroxisome Biogenesis Disorder, Complementation Group 11 0
                Peroxisome Biogenesis Disorder, Complementation Group 12 0
                Peroxisome Biogenesis Disorder, Complementation Group 13 0
                Peroxisome Biogenesis Disorder, Complementation Group 14 + 1
                Peroxisome Biogenesis Disorder, Complementation Group 7 1
                Peroxisome Biogenesis Disorder, Complementation Group 9 + 1
                Peroxisome Biogenesis Disorder, Complementation Group D 0
                Peroxisome Biogenesis Disorder, Complementation Group E 0
                Peroxisome Biogenesis Disorder, Complementation Group G 0
                Peroxisome Biogenesis Disorder, Complementation Group H 0
                Peroxisome Biogenesis Disorder, Complementation Group J 0
                Peroxisome Biogenesis Disorder, Complementation Group K 1
                Peroxisome Biogenesis Disorder, Complementation Group R 0
                Zellweger syndrome + 24
                peroxisome biogenesis disorder 10A 1
                peroxisome biogenesis disorder 11A 4
                peroxisome biogenesis disorder 12A 1
                peroxisome biogenesis disorder 13A 1
                peroxisome biogenesis disorder 1A 16
                peroxisome biogenesis disorder 2A 1
                peroxisome biogenesis disorder 2B 1
                peroxisome biogenesis disorder 3A 1
                peroxisome biogenesis disorder 4A 1
                peroxisome biogenesis disorder 5A 1
                peroxisome biogenesis disorder 6A 2
                peroxisome biogenesis disorder 7A 1
                peroxisome biogenesis disorder 8A 1
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.