ONTOLOGY REPORT - ANNOTATIONS


Term:hypomyelinating leukodystrophy
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Accession:DOID:0060786 term browser browse the term
Definition:A leukodystrophy characterized by T2 hyperintensity and T1 iso- or hyperintensity of affected white matter in the central nervous system. (DO)
Synonyms:exact_synonym: HLD
 primary_id: RDO:9002766
 xref: OMIM:PS312080
For additional species annotation, visit the Alliance of Genome Resources.


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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
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
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:1358559
RGD:7240710
RGD:11554173
G Rab9b RAB9B, member RAS oncogene family JBrowse link X 107,531,404 107,542,510 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        genetic disease 6451
          Nervous System Heredodegenerative Disorders 1609
            Hereditary Central Nervous System Demyelinating Diseases 42
              hypomyelinating leukodystrophy 28
                Hypomyelinating Leukodystrophy 15 1
                Hypomyelinating Leukodystrophy 16 1
                Hypomyelinating Leukodystrophy 17 1
                Hypomyelinating Leukodystrophy 18 1
                Pelizaeus-Merzbacher disease + 4
                hypomyelinating leukodystrophy 10 1
                hypomyelinating leukodystrophy 11 1
                hypomyelinating leukodystrophy 12 1
                hypomyelinating leukodystrophy 13 1
                hypomyelinating leukodystrophy 14 1
                hypomyelinating leukodystrophy 2 2
                hypomyelinating leukodystrophy 3 1
                hypomyelinating leukodystrophy 4 2
                hypomyelinating leukodystrophy 5 1
                hypomyelinating leukodystrophy 6 1
                hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 8
                hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 3
                hypomyelinating leukodystrophy 9 1
Path 2
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
            Metabolic Brain Diseases 446
              Metabolic Brain Diseases, Inborn 390
                Hereditary Central Nervous System Demyelinating Diseases 42
                  hypomyelinating leukodystrophy 28
                    Hypomyelinating Leukodystrophy 15 1
                    Hypomyelinating Leukodystrophy 16 1
                    Hypomyelinating Leukodystrophy 17 1
                    Hypomyelinating Leukodystrophy 18 1
                    Pelizaeus-Merzbacher disease + 4
                    hypomyelinating leukodystrophy 10 1
                    hypomyelinating leukodystrophy 11 1
                    hypomyelinating leukodystrophy 12 1
                    hypomyelinating leukodystrophy 13 1
                    hypomyelinating leukodystrophy 14 1
                    hypomyelinating leukodystrophy 2 2
                    hypomyelinating leukodystrophy 3 1
                    hypomyelinating leukodystrophy 4 2
                    hypomyelinating leukodystrophy 5 1
                    hypomyelinating leukodystrophy 6 1
                    hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 8
                    hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 3
                    hypomyelinating leukodystrophy 9 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.