Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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 chr 2:129,807,228...129,862,211
Ensembl chr 2:129,807,318...129,871,725
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 chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834
JBrowse link
G PSAP prosaposin ISO OMIM NCBI chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763
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 chr14:80,410,143...80,471,740
Ensembl chr14:80,410,147...80,471,700
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 chr15:77,895,935...78,021,930
Ensembl chr15:77,895,935...78,098,383
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 chr10:13,841,755...13,845,900 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 chr 7:38,511,521...38,531,938
Ensembl chr 7:38,507,073...38,537,943
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 chr 9:46,285,718...46,297,465
Ensembl chr 9:46,285,729...46,297,465
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 chr 9:20,181,187...20,224,116
Ensembl chr 9:20,181,235...20,280,211
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 chr11:13,516,814...13,779,446
Ensembl chr11:13,765,497...14,057,370
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 chr10:9,579,301...9,648,416
Ensembl chr10:9,579,301...9,648,414
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 chr 9:81,837,654...81,864,215
Ensembl chr 9:81,837,688...81,864,193
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 chr 3:5,109,617...5,117,919
Ensembl chr 3:5,109,617...5,117,985
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 chr10:12,529,021...12,568,447
Ensembl chr10:12,557,766...12,569,008
JBrowse link
Hypomyelinating Leukodystrophy 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM63A transmembrane protein 63A ISO OMIM NCBI chr10:13,771,795...13,814,442
Ensembl chr10:13,769,603...13,814,020
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 chr 2:51,257,623...51,267,969
Ensembl chr 2:51,258,207...51,267,966
JBrowse link
G SNAP29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2 ClinVar PMID:25356970 NCBI chr14:50,492,187...50,511,475
Ensembl chr14:50,492,154...50,511,456
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 chr 8:115,437,453...115,476,735
Ensembl chr 8:115,329,107...115,476,704
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 chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,527
JBrowse link
G POLR3A RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4 ClinVar PMID:29389947 NCBI chr14:80,410,143...80,471,740
Ensembl chr14:80,410,147...80,471,700
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 chr 9:91,729,044...91,821,629
Ensembl chr 9:91,729,054...91,821,619
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 chr 2:72,599,244...72,605,362
Ensembl chr 2:72,599,706...72,619,450
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 chr16:29,439,294...29,808,855
Ensembl chr16:29,439,263...29,809,748
JBrowse link
G POLR3A RNA polymerase III subunit A ISO OMIM NCBI chr14:80,410,143...80,471,740
Ensembl chr14:80,410,147...80,471,700
JBrowse link
G RPS24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar PMID:25741868, PMID:27029625 NCBI chr14:80,473,867...80,480,818 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 chr16:55,373,739...55,412,076
Ensembl chr16:55,373,726...55,412,117
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 chr15:15,810,497...15,885,706
Ensembl chr15:15,810,628...15,885,706
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 chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834
JBrowse link
G GALC galactosylceramidase ISO OMIM NCBI chr 7:109,894,576...109,961,407
Ensembl chr 7:109,894,188...109,961,407
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 chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763
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 chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834
JBrowse link
G PSAP prosaposin ISO OMIM NCBI chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763
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 chr 9:52,115,494...52,131,801
Ensembl chr 9:52,115,500...52,131,505
JBrowse link
G HEPN1 hepatocellular carcinoma, down-regulated 1 ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts ClinVar NCBI chr 9:52,115,257...52,116,284 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 chr 5:571,921...593,531
Ensembl chr 5:571,961...591,823
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 chr 9:52,115,494...52,131,801
Ensembl chr 9:52,115,500...52,131,505
JBrowse link
G MLC1 modulator of VRAC current 1 ISO OMIM NCBI chr 5:571,921...593,531
Ensembl chr 5:571,961...591,823
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 chr 9:52,115,494...52,131,801
Ensembl chr 9:52,115,500...52,131,505
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 chr 9:52,115,494...52,131,801
Ensembl chr 9:52,115,500...52,131,505
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 chr 5:107,103...110,330
Ensembl chr 5:107,149...111,518
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 chr 2:87,614,938...87,779,553
Ensembl chr 2:87,614,952...87,828,552
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 chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834
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 chr 6:51,734,318...51,757,508
Ensembl chr 6:51,734,319...51,779,624
JBrowse link
G MAL mal, T cell differentiation protein ISO RGD PMID:15193296 RGD:1358761 NCBI chr 3:46,223,610...46,242,306
Ensembl chr 3:46,181,555...46,242,047
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 chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763
JBrowse link
G SCP2 sterol carrier protein 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:25741868 NCBI chr 6:159,191,045...159,314,985 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: Saposin B Deficiency
ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency
ClinVar PMID:25741868 NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834
JBrowse link
G PSAP prosaposin ISO OMIM NCBI chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763
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 chr 2:65,920,352...65,938,840
Ensembl chr 2:65,922,126...65,938,760
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 LOC102167410 5-formyltetrahydrofolate cyclo-ligase ISO OMIM NCBI chr 7:48,717,518...48,873,492 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 chr 2:51,257,623...51,267,969
Ensembl chr 2:51,258,207...51,267,966
JBrowse link
G LMNB1 lamin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:129,807,228...129,862,211
Ensembl chr 2:129,807,318...129,871,725
JBrowse link
G PLP1 proteolipid protein 1 ISO OMIM NCBI chr  X:84,676,627...84,683,517
Ensembl chr  X:84,665,925...84,695,533
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, mild
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical
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 chr  X:84,721,269...84,733,000
Ensembl chr  X:84,721,274...84,732,990
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 chr 5:107,103...110,330
Ensembl chr 5:107,149...111,518
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 chr13:31,159,849...31,178,716
Ensembl chr13:31,159,843...31,179,098
JBrowse link
G TREX1 three prime repair exonuclease 1 ISO OMIM NCBI chr13:31,177,604...31,180,764
Ensembl chr13:31,178,601...31,180,592
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12617
    Developmental Diseases 8916
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7791
        genetic disease 7319
          Nervous System Heredodegenerative Disorders 1915
            Hereditary Central Nervous System Demyelinating Diseases 40
              Dysmyelinating Leukodystrophy with Oligodontia 1
              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 + 3
              metachromatic leukodystrophy + 7
              retinal vasculopathy with cerebral leukodystrophy 2
Path 2
Term Annotations click to browse term
  disease 12617
    disease of anatomical entity 12151
      nervous system disease 9903
        central nervous system disease 8376
          brain disease 7744
            Metabolic Brain Diseases 549
              Metabolic Brain Diseases, Inborn 484
                Hereditary Central Nervous System Demyelinating Diseases 40
                  Dysmyelinating Leukodystrophy with Oligodontia 1
                  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 + 3
                  metachromatic leukodystrophy + 7
                  retinal vasculopathy with cerebral leukodystrophy 2
paths to the root

NHLBI Logo

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