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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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Hereditary Central Nervous System Demyelinating Diseases term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-CYB mitochondrially encoded cytochrome b IEA Leucodystrophy OMIA PMID:11596738, PMID:16026996 NCBI chr MT:14,183...15,322
Ensembl chr MT:14,183...15,322
JBrowse link
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 chr11:15,996,627...16,052,719
Ensembl chr11:15,930,436...16,052,127
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: Sphingolipid activator protein 1 deficiency
ClinVar Annotator: match by term: Combined saposin deficiency
ClinVar PMID:18429043, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:28492532 NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G PSAP prosaposin ISO OMIM NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848
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 chr 4:27,834,197...27,883,065
Ensembl chr 4:27,835,612...27,883,436
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 chr10:32,202,188...32,309,775
Ensembl chr10:32,202,190...32,309,614
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 chr36:16,185,011...16,391,080
Ensembl chr36:16,185,649...16,483,016
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 chr 7:38,902,705...38,905,924 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 chr12:11,978,337...11,982,265
Ensembl chr12:11,978,422...12,008,579
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 IEA
ISO
Neuroaxonal dystrophy, VPS11-related OMIA
OMIM
PMID:3410773, PMID:6698879, PMID:6842267, PMID:11699565, PMID:29945969 NCBI chr 5:14,776,975...14,786,736
Ensembl chr 5:14,776,976...14,786,692
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 chr21:13,210,356...13,249,595
Ensembl chr21:13,210,362...13,249,565
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 chr25:2,427,521...2,547,449
Ensembl chr25:2,386,609...2,547,311
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 chr38:14,754,628...14,823,626
Ensembl chr38:14,754,632...14,823,621
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 chr14:27,140,692...27,166,652
Ensembl chr14:27,140,687...27,161,333
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 6:11,438,768...11,446,307
Ensembl chr 6:11,438,803...11,446,308
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 chr 7:40,147,293...40,152,190
Ensembl chr 7:40,147,505...40,153,085
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 chr 7:38,936,989...38,964,349
Ensembl chr 7:38,937,041...38,964,345
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 chr14:810,388...819,248
Ensembl chr14:810,386...820,420
JBrowse link
G SNAP29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2 ClinVar PMID:25356970 NCBI chr26:30,606,195...30,630,441
Ensembl chr26:30,609,158...30,630,262
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 chr32:27,062,812...27,102,654
Ensembl chr32:27,062,950...27,101,977
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 chr37:7,010,421...7,025,912 JBrowse link
G POLR3A RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4 ClinVar PMID:29389947 NCBI chr 4:27,834,197...27,883,065
Ensembl chr 4:27,835,612...27,883,436
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 chr14:36,594,263...36,718,960
Ensembl chr14:36,619,971...36,718,895
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 chr20:53,697,643...53,702,671
Ensembl chr20:53,697,639...53,702,349
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 chr 4:64,777,069...65,162,603
Ensembl chr 4:64,775,577...65,160,444
JBrowse link
G POLR3A RNA polymerase III subunit A ISO OMIM NCBI chr 4:27,834,197...27,883,065
Ensembl chr 4:27,835,612...27,883,436
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 chr10:32,202,188...32,309,775
Ensembl chr10:32,202,190...32,309,614
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 chr 4:27,886,872...27,893,145
Ensembl chr 4:27,877,075...27,908,806
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 chr10:32,202,188...32,309,775
Ensembl chr10:32,202,190...32,309,614
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 chr 4:43,237,499...43,260,738
Ensembl chr 4:43,237,499...43,260,677
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 chr19:38,690,170...38,751,360
Ensembl chr19:38,668,527...38,751,310
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 chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G GALC galactosylceramidase IEA
ISO
Krabbe disease OMIA
OMIM
PMID:970445, PMID:3895053, PMID:5099954, PMID:5167788, PMID:5484847, PMID:5538703, PMID:8661004, PMID:9741878, PMID:9987921, PMID:10752900, PMID:11074371, PMID:16490723, PMID:18808060, PMID:20839990, PMID:25260228, PMID:27491217, PMID:27638585 NCBI chr 8:59,266,693...59,324,825
Ensembl chr 8:59,267,818...59,324,967
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 chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848
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 chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G PSAP prosaposin ISO OMIM NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848
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 5:9,520,998...9,535,019
Ensembl chr 5:9,521,740...9,534,958
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 chr10:17,139,912...17,164,666
Ensembl chr10:17,139,448...17,163,056
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 5:9,520,998...9,535,019
Ensembl chr 5:9,521,740...9,534,958
JBrowse link
G MLC1 modulator of VRAC current 1 ISO OMIM NCBI chr10:17,139,912...17,164,666
Ensembl chr10:17,139,448...17,163,056
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 5:9,520,998...9,535,019
Ensembl chr 5:9,521,740...9,534,958
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 5:9,520,998...9,535,019
Ensembl chr 5:9,521,740...9,534,958
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 chr10:16,691,927...16,694,346
Ensembl chr10:16,691,758...16,695,398
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 3:27,870,111...28,034,906
Ensembl chr 3:27,870,151...28,034,906
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 chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
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 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125
JBrowse link
G MAL mal, T cell differentiation protein ISO RGD PMID:15193296 RGD:1358761 NCBI chr17:34,977,298...35,000,690
Ensembl chr17:34,977,298...35,001,349
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 chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848
JBrowse link
G SCP2 sterol carrier protein 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:25741868 NCBI chr 5:55,860,053...55,971,657
Ensembl chr 5:55,860,549...55,964,014
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 chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G PSAP prosaposin ISO OMIM NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848
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 chr20:49,080,490...49,099,623
Ensembl chr20:49,083,132...49,099,884
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 chr 3:57,480,935...57,514,836 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 chr14:810,388...819,248
Ensembl chr14:810,386...820,420
JBrowse link
G LMNB1 lamin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:15,996,627...16,052,719
Ensembl chr11:15,930,436...16,052,127
JBrowse link
G PLP1 proteolipid protein 1 ISO
IEA
Tremor, X-linked OMIM
OMIA
PMID:343874, PMID:4652629, PMID:4721939, PMID:9035971 NCBI chr  X:77,191,112...77,207,772
Ensembl chr  X:77,191,150...77,205,964
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, mild
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:77,228,609...77,238,344
Ensembl chr  X:77,231,441...77,239,001
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 chr10:16,691,927...16,694,346
Ensembl chr10:16,691,758...16,695,398
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 chr20:40,626,828...40,642,689
Ensembl chr20:40,626,831...40,642,594
JBrowse link
G TREX1 three prime repair exonuclease 1 ISO OMIM NCBI chr20:40,624,845...40,626,840
Ensembl chr20:40,624,891...40,626,906
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12673
    Developmental Diseases 8954
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7827
        genetic disease 7347
          Nervous System Heredodegenerative Disorders 1913
            Hereditary Central Nervous System Demyelinating Diseases 41
              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 + 24
              megalencephalic leukoencephalopathy with subcortical cysts + 2
              metachromatic leukodystrophy + 7
              retinal vasculopathy with cerebral leukodystrophy 2
Path 2
Term Annotations click to browse term
  disease 12673
    disease of anatomical entity 12211
      nervous system disease 9959
        central nervous system disease 8410
          brain disease 7785
            Metabolic Brain Diseases 554
              Metabolic Brain Diseases, Inborn 489
                Hereditary Central Nervous System Demyelinating Diseases 41
                  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 + 24
                  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.