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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Hereditary Central Nervous System Demyelinating Diseases
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Accession:DOID:9008095 term browser browse the term
Definition:Inherited conditions characterized by a loss of MYELIN in the central nervous system.
Synonyms:exact_synonym: leucodystrophy
 primary_id: MESH:D020279
 alt_id: OMIA:001130
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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb1 lamin B1 ISO OMIM NCBI chrNW_004955521:4,583,691...4,612,271 JBrowse link
combined saposin deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Combined saposin deficiency
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar PMID:18429043, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:28492532 NCBI chrNW_004955437:19,683,792...20,044,718 JBrowse link
G Psap prosaposin ISO OMIM NCBI chrNW_004955437:19,667,252...19,683,669 JBrowse link
Dysmyelinating Leukodystrophy with Oligodontia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:25741868, PMID:28459997, PMID:30847471, PMID:31637490 NCBI chrNW_004955437:14,446,059...14,483,336 JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:22036172, PMID:23355746, PMID:25339210, PMID:25741868, PMID:26204956 NCBI chrNW_004955405:40,353,289...40,451,445 JBrowse link
early infantile epileptic encephalopathy 39 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a12 solute carrier family 25 member 12 ISO OMIM NCBI chrNW_004955449:3,093,603...3,182,513 JBrowse link
hypomyelinating leukodystrophy 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pycr2 pyrroline-5-carboxylate reductase 2 ISO OMIM NCBI chrNW_004955489:138,600...143,112 JBrowse link
hypomyelinating leukodystrophy 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1c RNA polymerase I and III subunit C ISO OMIM NCBI chrNW_004955437:9,346,397...9,350,591 JBrowse link
hypomyelinating leukodystrophy 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO OMIM NCBI chrNW_004955412:20,161,520...20,190,141 JBrowse link
hypomyelinating leukodystrophy 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hikeshi heat shock protein nuclear import factor hikeshi ISO OMIM NCBI chrNW_004955414:6,632,434...6,656,633 JBrowse link
hypomyelinating leukodystrophy 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ufm1 ubiquitin fold modifier 1 ISO OMIM NCBI chrNW_004955431:7,860,706...7,872,972 JBrowse link
Hypomyelinating Leukodystrophy 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO OMIM NCBI chrNW_004955520:3,550,558...3,606,015 JBrowse link
Hypomyelinating Leukodystrophy 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem106b transmembrane protein 106B ISO OMIM NCBI chrNW_004955432:18,619,418...18,644,876 JBrowse link
Hypomyelinating Leukodystrophy 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aimp2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 ISO OMIM NCBI chrNW_004955460:13,754,487...13,762,726 JBrowse link
Hypomyelinating Leukodystrophy 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Degs1 delta 4-desaturase, sphingolipid 1 ISO OMIM NCBI chrNW_004955520:1,139,568...1,143,149 JBrowse link
hypomyelinating leukodystrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjc2 gap junction protein gamma 2 ISO OMIM NCBI chrNW_004955581:291,537...294,752 JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2 ClinVar PMID:25356970 NCBI chrNW_004955442:19,419,381...19,446,782 JBrowse link
hypomyelinating leukodystrophy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aimp1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 ISO OMIM NCBI chrNW_004955496:3,073,480...3,108,012 JBrowse link
hypomyelinating leukodystrophy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO OMIM NCBI chrNW_004955403:3,062,724...3,073,419 JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4 ClinVar PMID:29389947 NCBI chrNW_004955437:14,446,059...14,483,336 JBrowse link
hypomyelinating leukodystrophy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam126a family with sequence similarity 126 member A ISO OMIM NCBI chrNW_004955410:25,274,360...25,342,112 JBrowse link
hypomyelinating leukodystrophy 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb4a tubulin beta 4A class IVa ISO OMIM NCBI chrNW_004955495:3,134,181...3,138,725 JBrowse link
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7 ClinVar PMID:25741868 NCBI chrNW_004955446:17,146,915...17,457,843 JBrowse link
G Polr3a RNA polymerase III subunit A ISO OMIM NCBI chrNW_004955437:14,446,059...14,483,336 JBrowse link
G Polr3b RNA polymerase III subunit B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pol III-related leukodystrophy
CTD
ClinVar
PMID:22036172, PMID:23355746, PMID:25339210, PMID:25741868, PMID:26204956 NCBI chrNW_004955405:40,353,289...40,451,445 JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar PMID:25741868, PMID:27029625 NCBI chrNW_004955437:14,435,822...14,442,662 JBrowse link
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3b RNA polymerase III subunit B ISO OMIM NCBI chrNW_004955405:40,353,289...40,451,445 JBrowse link
hypomyelinating leukodystrophy 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rars1 arginyl-tRNA synthetase 1 ISO OMIM NCBI chrNW_004955408:21,536,426...21,574,683 JBrowse link
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dars1 aspartyl-tRNA synthetase 1 ISO OMIM NCBI chrNW_004955440:3,268,648...3,345,808 JBrowse link
Krabbe disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar PMID:18429043, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:28492532 NCBI chrNW_004955437:19,683,792...20,044,718 JBrowse link
G Galc galactosylceramidase ISO OMIM NCBI chrNW_004955438:10,667,807...10,704,386 JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar PMID:18429043, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:28492532 NCBI chrNW_004955437:19,667,252...19,683,669 JBrowse link
Krabbe Disease, Atypical, due to Saposin A Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency ClinVar PMID:25741868 NCBI chrNW_004955437:19,683,792...20,044,718 JBrowse link
G Psap prosaposin ISO OMIM NCBI chrNW_004955437:19,667,252...19,683,669 JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts
CTD
ClinVar
PMID:21419380, PMID:25741868, PMID:28492532 NCBI chrNW_004955412:25,981,235...25,998,296 JBrowse link
G Mlc1 modulator of VRAC current 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts
CTD
ClinVar
PMID:11254442, PMID:25741868 NCBI chrNW_004955413:33,120,426...33,142,149 JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 ClinVar PMID:25741868, PMID:29389947 NCBI chrNW_004955412:25,981,235...25,998,296 JBrowse link
G Mlc1 modulator of VRAC current 1 ISO OMIM NCBI chrNW_004955413:33,120,426...33,142,149 JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISO OMIM NCBI chrNW_004955412:25,981,235...25,998,296 JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatic and glial cell adhesion molecule ISO OMIM NCBI chrNW_004955412:25,981,235...25,998,296 JBrowse link
metachromatic leukodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsa arylsulfatase A ISO OMIM NCBI chrNW_004955413:33,624,460...33,629,491 JBrowse link
G Arsb arylsulfatase B ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:1550123, PMID:8116615, PMID:8651289, PMID:10923267, PMID:11939792, PMID:14974081, PMID:16435196, PMID:17458871, PMID:17643332, PMID:18406185, PMID:21514195, PMID:21791832, PMID:21917494, PMID:22133300, PMID:22441840, PMID:23557332, PMID:23657977, PMID:24221504, PMID:24373060, PMID:24767253, PMID:25741868, PMID:28492532, PMID:30118150 NCBI chrNW_004955425:22,120,507...22,281,221 JBrowse link
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:18429043, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:28492532 NCBI chrNW_004955437:19,683,792...20,044,718 JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:11709541, PMID:20633800, PMID:24728327, PMID:25741868, PMID:27504877 NCBI chrNW_004955555:2,355,005...2,369,599 JBrowse link
G Mal mal, T cell differentiation protein ISO RGD PMID:15193296 RGD:1358761 NCBI chrNW_004955470:3,372,577...3,396,868 JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:18429043, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:28492532 NCBI chrNW_004955437:19,667,252...19,683,669 JBrowse link
G Scp2 sterol carrier protein 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:25741868 NCBI chrNW_004955464:6,097,241...6,224,287 JBrowse link
Metachromatic Leukodystrophy due to Saposin B Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency
ClinVar Annotator: match by term: Saposin B Deficiency
ClinVar PMID:25741868 NCBI chrNW_004955437:19,683,792...20,044,718 JBrowse link
G Psap prosaposin ISO OMIM NCBI chrNW_004955437:19,667,252...19,683,669 JBrowse link
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nacc1 nucleus accumbens associated 1 ISO OMIM NCBI chrNW_004955415:32,135,633...32,152,059 JBrowse link
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mthfs methenyltetrahydrofolate synthetase ISO OMIM NCBI chrNW_004955533:720,255...756,893 JBrowse link
Pelizaeus-Merzbacher disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjc2 gap junction protein gamma 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:23143715, PMID:25741868, PMID:31319225 NCBI chrNW_004955581:291,537...294,752 JBrowse link
G Lmnb1 lamin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955521:4,583,691...4,612,271 JBrowse link
G Plp1 proteolipid protein 1 ISO OMIM NCBI chrNW_004955548:781,522...797,246 JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild
ClinVar PMID:1376966, PMID:1384324, PMID:1605230, PMID:1707231, PMID:1715570, PMID:2479017, PMID:2480601, PMID:2773936, PMID:3827224, PMID:7573159, PMID:7574457, PMID:7683951, PMID:8696336, PMID:8786077, PMID:9056547, PMID:9482656, PMID:11071483, PMID:12910435, PMID:19396823, PMID:20301361, PMID:24088041, PMID:25326635, PMID:25491635, PMID:25741868, PMID:26125040, PMID:26633545, PMID:28492532, PMID:29451896 NCBI chrNW_004955548:825,208...829,815 JBrowse link
Pseudoarylsulfatase A Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Pseudoarylsulfatase A deficiency ClinVar PMID:8101038, PMID:15326627, PMID:15720392, PMID:24001781, PMID:25741868, PMID:26462614, PMID:28492532, PMID:28670130, PMID:28762252 NCBI chrNW_004955413:33,624,460...33,629,491 JBrowse link
retinal vasculopathy with cerebral leukodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Vasculopathy, retinal, with cerebral leukodystrophy
ClinVar Annotator: match by term: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
ClinVar Annotator: match by term: Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena
ClinVar PMID:9371916, PMID:16845398, PMID:17293595, PMID:17660818, PMID:17660820, PMID:17846997, PMID:18583934, PMID:18805785, PMID:20131292, PMID:21270825, PMID:21937424, PMID:23602593, PMID:23881107, PMID:24033266, PMID:24183309, PMID:24224166, PMID:25138095, PMID:25582466, PMID:25604658, PMID:25741868, PMID:25906927, PMID:26182405, PMID:26467025, PMID:27391121, PMID:28089741, PMID:28492532, PMID:29239743 NCBI chrNW_004955532:516,772...533,774 JBrowse link
G Trex1 three prime repair exonuclease 1 ISO OMIM NCBI chrNW_004955532:533,877...535,767 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11810
    Developmental Diseases 8410
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7389
        genetic disease 6940
          Nervous System Heredodegenerative Disorders 1796
            Hereditary Central Nervous System Demyelinating Diseases 39
              Dysmyelinating Leukodystrophy with Oligodontia 2
              Dysmyelination with Jaundice 0
              Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 1
              Krabbe disease + 3
              Leber hereditary optic neuropathy with demyelinating disease of CNS 0
              Megalencephaly with Dysmyelination 0
              Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 1
              Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 1
              Optic Atrophy with Demyelinating Disease of CNS 0
              early infantile epileptic encephalopathy 39 1
              hypomyelinating leukodystrophy + 23
              megalencephalic leukoencephalopathy with subcortical cysts + 2
              metachromatic leukodystrophy + 7
              retinal vasculopathy with cerebral leukodystrophy 2
Path 2
Term Annotations click to browse term
  disease 11810
    disease of anatomical entity 11364
      nervous system disease 9290
        central nervous system disease 7864
          brain disease 7268
            Metabolic Brain Diseases 518
              Metabolic Brain Diseases, Inborn 453
                Hereditary Central Nervous System Demyelinating Diseases 39
                  Dysmyelinating Leukodystrophy with Oligodontia 2
                  Dysmyelination with Jaundice 0
                  Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 1
                  Krabbe disease + 3
                  Leber hereditary optic neuropathy with demyelinating disease of CNS 0
                  Megalencephaly with Dysmyelination 0
                  Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 1
                  Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 1
                  Optic Atrophy with Demyelinating Disease of CNS 0
                  early infantile epileptic encephalopathy 39 1
                  hypomyelinating leukodystrophy + 23
                  megalencephalic leukoencephalopathy with subcortical cysts + 2
                  metachromatic leukodystrophy + 7
                  retinal vasculopathy with cerebral leukodystrophy 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.