ONTOLOGY REPORT - ANNOTATIONS


Term:leukodystrophy
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Accession:DOID:10579 term browser browse the term
Definition:A cerebral degeneration characterized by dysfunction of the white matter of the brain. (DO)
Synonyms:primary_id: RDO:9002762
 xref: GARD:6895
For additional species annotation, visit the Alliance of Genome Resources.


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leukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aifm1 apoptosis inducing factor, mitochondria associated 1 JBrowse link X 135,304,063 135,343,062 RGD:8554872
G Arsa arylsulfatase A JBrowse link 7 130,446,644 130,452,632 RGD:8554872
G Clcn2 chloride voltage-gated channel 2 JBrowse link 11 82,862,664 82,876,165 RGD:13592920
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon JBrowse link 11 84,080,273 84,090,259 RGD:8554872
G Galc galactosylceramidase JBrowse link 6 122,177,195 122,239,411 RGD:8554872
G Men1 menin 1 JBrowse link 1 221,704,394 221,710,343 RGD:8554872
G Rab33a RAB33A, member RAS oncogene family JBrowse link X 135,348,799 135,360,204 RGD:8554872
G Rnf216 ring finger protein 216 JBrowse link 12 13,508,429 13,631,689 RGD:8554872
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-onset autosomal dominant demyelinating leukodystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmnb1 lamin B1 JBrowse link 18 51,785,111 51,822,264 RGD:10044243
RGD:8554872
RGD:7240710
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csf1r colony stimulating factor 1 receptor JBrowse link 18 56,414,493 56,458,300 RGD:8554872
RGD:7240710
Alexander Disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc103 coiled-coil domain containing 103 JBrowse link 10 90,984,213 90,987,829 RGD:8554872
G Gfap glial fibrillary acidic protein JBrowse link 10 90,990,762 90,999,435 RGD:7240710
RGD:8554872
CADASIL term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Htra1 HtrA serine peptidase 1 JBrowse link 1 201,499,067 201,548,508 RGD:11554173
G Notch3 notch receptor 3 JBrowse link 7 14,138,495 14,189,688 RGD:8554872
RGD:11554173
CADASIL 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Notch3 notch receptor 3 JBrowse link 7 14,138,495 14,189,688 RGD:7240710
RGD:8554872
CADASIL 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Htra1 HtrA serine peptidase 1 JBrowse link 1 201,499,067 201,548,508 RGD:8554872
RGD:7240710
Canavan disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aspa aspartoacylase JBrowse link 10 59,839,693 59,888,244 RGD:1599291
RGD:8554872
RGD:11554173
RGD:1599298
RGD:7240710
G Cspg4 chondroitin sulfate proteoglycan 4 JBrowse link 8 61,532,465 61,567,510 RGD:5686858
G Ctns cystinosin, lysosomal cystine transporter JBrowse link 10 59,749,250 59,772,475 RGD:8554872
G Emc6 ER membrane protein complex subunit 6 JBrowse link 10 59,741,772 59,743,338 RGD:8554872
G Glud1 glutamate dehydrogenase 1 JBrowse link 16 10,661,486 10,695,557 RGD:6484588
G Haspin histone H3 associated protein kinase JBrowse link 10 59,695,403 59,698,398 RGD:8554872
G Itgae integrin subunit alpha E JBrowse link 10 59,652,324 59,711,885 RGD:8554872
G P2rx5 purinergic receptor P2X 5 JBrowse link 10 59,725,438 59,737,126 RGD:8554872
G Shpk sedoheptulokinase JBrowse link 10 59,765,328 59,789,676 RGD:8554872
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:13592920
G Spata22 spermatogenesis associated 22 JBrowse link 10 59,893,064 59,910,769 RGD:8554872
G Tax1bp3 Tax1 binding protein 3 JBrowse link 10 59,743,356 59,748,063 RGD:8554872
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 JBrowse link 10 59,799,123 59,824,208 RGD:8554872
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 JBrowse link 10 59,829,755 59,863,780 RGD:8554872
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Htra1 HtrA serine peptidase 1 JBrowse link 1 201,499,067 201,548,508 RGD:7240710
RGD:8554872
hypomyelinating leukodystrophy 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pycr2 pyrroline-5-carboxylate reductase 2 JBrowse link 13 99,184,624 99,188,418 RGD:7240710
RGD:8554872
hypomyelinating leukodystrophy 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr1c RNA polymerase I and III subunit C JBrowse link 9 17,120,759 17,124,871 RGD:7240710
RGD:8554872
hypomyelinating leukodystrophy 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vps11 VPS11 core subunit of CORVET and HOPS complexes JBrowse link 8 48,677,492 48,692,295 RGD:8554872
RGD:7240710
hypomyelinating leukodystrophy 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hikeshi heat shock protein nuclear import factor JBrowse link 1 154,147,098 154,170,429 RGD:8554872
RGD:7240710
hypomyelinating leukodystrophy 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ufm1 ubiquitin-fold modifier 1 JBrowse link 2 143,096,268 143,104,412 RGD:8554872
RGD:7240710
Hypomyelinating Leukodystrophy 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eprs glutamyl-prolyl-tRNA synthetase JBrowse link 13 103,300,911 103,371,651 RGD:8554872
RGD:7240710
Hypomyelinating Leukodystrophy 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem106b transmembrane protein 106B JBrowse link 4 39,517,679 39,534,491 RGD:8554872
RGD:7240710
Hypomyelinating Leukodystrophy 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aimp2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 JBrowse link 12 12,738,784 12,748,345 RGD:8554872
RGD:7240710
Hypomyelinating Leukodystrophy 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Degs1 delta(4)-desaturase, sphingolipid 1 JBrowse link 13 100,665,265 100,672,731 RGD:7240710
hypomyelinating leukodystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjc2 gap junction protein, gamma 2 JBrowse link 10 45,526,740 45,535,520 RGD:7240710
RGD:8554872
RGD:13208581
RGD:13208580
RGD:13208533
RGD:13208526
RGD:13208525
RGD:11554173
G Snap29 synaptosome associated protein 29 JBrowse link 11 87,827,633 87,858,107 RGD:8554872
hypomyelinating leukodystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aimp1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 JBrowse link 2 237,727,782 237,751,327 RGD:7240710
RGD:8554872
hypomyelinating leukodystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspd1 heat shock protein family D (Hsp60) member 1 JBrowse link 9 61,680,529 61,691,202 RGD:7240710
RGD:8554872
RGD:12910473
RGD:11554173
G Polr3a RNA polymerase III subunit A JBrowse link 16 717,821 756,002 RGD:8554872
hypomyelinating leukodystrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam126a family with sequence similarity 126, member A JBrowse link 4 7,661,710 7,770,179 RGD:7240710
RGD:8554872
hypomyelinating leukodystrophy 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb4a tubulin, beta 4A class IVa JBrowse link 9 9,961,020 9,968,420 RGD:8554872
RGD:7240710
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Mylk myosin light chain kinase JBrowse link 11 69,013,060 69,260,039 RGD:8554872
G Polr3a RNA polymerase III subunit A JBrowse link 16 717,821 756,002 RGD:7240710
RGD:8554872
G Polr3b RNA polymerase III subunit B JBrowse link 7 24,745,051 24,851,227 RGD:8554872
RGD:11554173
G Rps24 ribosomal protein S24 JBrowse link 16 757,390 762,091 RGD:8554872
G Scn1a sodium voltage-gated channel alpha subunit 1 JBrowse link 3 52,388,811 52,533,365 RGD:8554872
G Ski SKI proto-oncogene JBrowse link 5 172,556,196 172,623,878 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med12 mediator complex subunit 12 JBrowse link X 71,174,653 71,197,812 RGD:8554872
G Polr3b RNA polymerase III subunit B JBrowse link 7 24,745,051 24,851,227 RGD:7240710
RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
hypomyelinating leukodystrophy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rars arginyl-tRNA synthetase JBrowse link 10 20,633,630 20,658,074 RGD:7240710
RGD:8554872
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 JBrowse link 1 85,386,492 85,399,699 RGD:8554872
RGD:7240710
leukoencephalopathy with vanishing white matter term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eif2b1 eukaryotic translation initiation factor 2B subunit alpha JBrowse link 12 37,444,136 37,452,391 RGD:7240710
RGD:8554872
G Eif2b2 eukaryotic translation initiation factor 2B subunit beta JBrowse link 6 109,044,830 109,051,254 RGD:734925
RGD:8554872
RGD:11554173
RGD:7240710
G Eif2b3 eukaryotic translation initiation factor 2B subunit gamma JBrowse link 5 135,882,946 135,949,276 RGD:7240710
RGD:8554872
G Eif2b4 eukaryotic translation initiation factor 2B subunit delta JBrowse link 6 26,546,917 26,552,474 RGD:7240710
RGD:8554872
RGD:11554173
G Eif2b5 eukaryotic translation initiation factor 2B subunit epsilon JBrowse link 11 84,080,273 84,090,259 RGD:734925
RGD:8554872
RGD:11554173
RGD:7240710
G Gtf2h3 general transcription factor IIH subunit 3 JBrowse link 12 37,427,556 37,444,027 RGD:8554872
G Mlh3 mutL homolog 3 JBrowse link 6 109,059,386 109,095,876 RGD:8554872
megalencephalic leukoencephalopathy with subcortical cysts term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hepacam hepatic and glial cell adhesion molecule JBrowse link 8 39,848,264 39,866,969 RGD:8554872
RGD:11554173
G Mlc1 modulator of VRAC current 1 JBrowse link 7 129,949,984 129,970,314 RGD:8554872
RGD:11554173
megalencephalic leukoencephalopathy with subcortical cysts 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hepacam hepatic and glial cell adhesion molecule JBrowse link 8 39,848,264 39,866,969 RGD:13592920
RGD:8554872
G Mlc1 modulator of VRAC current 1 JBrowse link 7 129,949,984 129,970,314 RGD:8554872
RGD:7240710
megalencephalic leukoencephalopathy with subcortical cysts 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hepacam hepatic and glial cell adhesion molecule JBrowse link 8 39,848,264 39,866,969 RGD:7240710
RGD:8554872
megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hepacam hepatic and glial cell adhesion molecule JBrowse link 8 39,848,264 39,866,969 RGD:7240710
RGD:8554872
Pelizaeus-Merzbacher disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gjc2 gap junction protein, gamma 2 JBrowse link 10 45,526,740 45,535,520 RGD:8554872
G Lmnb1 lamin B1 JBrowse link 18 51,785,111 51,822,264 RGD:11554173
G Plp1 proteolipid protein 1 JBrowse link X 107,494,326 107,511,355 RGD:1358783
RGD:8554872
RGD:11554173
RGD:7240710
RGD:1358559
G Rab9b RAB9B, member RAS oncogene family JBrowse link X 107,531,404 107,542,510 RGD:8554872
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
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
Progressive Leukodystrophy, Early Childhood-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acer3 alkaline ceramidase 3 JBrowse link 1 163,160,987 163,263,621 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        central nervous system disease 6948
          brain disease 6454
            cerebral degeneration 199
              leukodystrophy 79
                Alexander Disease 2
                CADASIL + 2
                Canavan disease 15
                LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA 1
                Progressive Leukodystrophy, Early Childhood-Onset 1
                adrenoleukodystrophy + 14
                adult-onset autosomal dominant demyelinating leukodystrophy 1
                adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 1
                hypomyelinating leukodystrophy + 28
                leukoencephalopathy with vanishing white matter 7
                megalencephalic leukoencephalopathy with subcortical cysts + 2
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.