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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.

show annotations for term's descendants           Sort by:
 
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: PROSAPOSIN DEFICIENCY
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 chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar Annotator: match by term: Combined saposin deficiency
ClinVar Annotator: match by OMIM:611721
ClinVar Annotator: match by null		 OMIM
ClinVar		 PMID:1350885 PMID:1371116 PMID:1689485 PMID:2019586 PMID:2066109 PMID:2302219 PMID:2320574 PMID:2514102 PMID:8370580 PMID:8554069 PMID:10196694 PMID:10682309 PMID:11309366 PMID:17561962 PMID:17616409 PMID:17919309 PMID:18429043 PMID:18693274 PMID:19267410 PMID:19955343 PMID:20484222 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:26462614 PMID:28492532 PMID:30632081 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875 		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 chr16:717,821...756,002
Ensembl chr16:716,683...755,990 		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 chr 7:24,745,051...24,851,227
Ensembl chr 7:24,745,051...24,851,227 		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 ClinVar Annotator: match by term: Hypomyelination, global cerebral
ClinVar Annotator: match by OMIM:612949		 OMIM
ClinVar		 PMID:19641205 PMID:24515575 PMID:24973975 PMID:25741868 PMID:28492532 NCBI chr 3:57,881,951...57,998,214
Ensembl chr 3:57,882,370...57,957,346 		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 ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 10 OMIM
ClinVar		 PMID:25741868 PMID:25865492 PMID:27130255 PMID:27860360 NCBI chr13:99,184,624...99,188,418
Ensembl chr13:99,184,564...99,188,431 		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 ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 11 OMIM
ClinVar		 PMID:610060 PMID:11013442 PMID:21131976 PMID:25741868 PMID:26151409 PMID:28327206 PMID:29567474 NCBI chr 9:17,120,759...17,124,871
Ensembl chr 9:17,120,759...17,124,871 		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 ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 12 OMIM
ClinVar		 PMID:25741868 PMID:26307567 PMID:27120463 PMID:32316234 NCBI chr 8:48,677,492...48,692,295
Ensembl chr 8:48,677,492...48,692,295 		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 ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 13 ClinVar
OMIM		 PMID:26545878 NCBI chr 1:154,147,098...154,170,429
Ensembl chr 1:154,142,836...154,170,409 		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 ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 14 ClinVar
OMIM		 PMID:25741868 PMID:28931644 PMID:29868776 PMID:30311386 PMID:32860008 NCBI chr 2:143,096,268...143,104,412
Ensembl chr 2:143,096,271...143,104,412 		JBrowse link
Hypomyelinating Leukodystrophy 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eprs glutamyl-prolyl-tRNA synthetase ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 15 ClinVar
OMIM		 PMID:25741868 PMID:29576217 NCBI chr13:103,300,911...103,371,651
Ensembl chr13:103,300,932...103,371,577 		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 ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 16 ClinVar
OMIM		 PMID:25741868 PMID:29186371 PMID:29444210 NCBI chr 4:39,517,679...39,534,491
Ensembl chr 4:39,517,548...39,535,169 		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 ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 17 ClinVar
OMIM		 PMID:29215095 NCBI chr12:12,738,784...12,748,345
Ensembl chr12:12,738,812...12,748,345 		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 ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 18 OMIM
ClinVar		 PMID:25741868 PMID:30620337 PMID:30620338 PMID:31186544 NCBI chr13:100,665,265...100,672,731
Ensembl chr13:100,666,075...100,672,731 		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 ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE OMIM
ClinVar		 PMID:25741868 PMID:31587869 NCBI chr13:99,219,585...99,253,176
Ensembl chr13:99,220,510...99,253,316 		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 ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2
DNA:mutations:multiple (human)
DNA:missense mutation, frameshift mutations:cds:p.G236S, p.P131fs144X, p.L281fs285X (human)
DNA:missense mutation:cds:p.M282T (mouse)
DNA:snp:5' utr:c.-167A>G (human)
DNA:missense mutations, nonsense mutation, frameshift mutation:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:608804
ClinVar Annotator: match by null		 OMIM
ClinVar
CTD		 PMID:8733901 PMID:15192806 PMID:16969684 PMID:17031678 PMID:17344063 PMID:18094336 PMID:18571143 PMID:20695017 PMID:21246605 PMID:21959080 PMID:22351697 PMID:22669416 PMID:22833003 PMID:23142375 PMID:24374284 PMID:25326635 PMID:25741868 PMID:26354221 PMID:27057822 PMID:27780564 PMID:28492532 PMID:29276893 PMID:29389947 PMID:32488064, PMID:18094336, PMID:16707726, PMID:21750683, PMID:21959080, PMID:15192806 RGD:13208581, RGD:13208580, RGD:13208533, RGD:13208526, RGD:13208525 NCBI chr10:45,526,740...45,535,520
Ensembl chr10:45,526,745...45,534,570 		JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2 ClinVar PMID:25356970 NCBI chr11:87,827,633...87,858,107
Ensembl chr11:87,827,651...87,858,107 		JBrowse link
hypomyelinating leukodystrophy 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 20 OMIM
ClinVar		 PMID:32128616 NCBI chr10:88,490,798...88,497,357
Ensembl chr10:88,490,798...88,497,356 		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 ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 3
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating 3
ClinVar Annotator: match by OMIM:260600		 OMIM
ClinVar		 PMID:21092922 PMID:23806086 PMID:24088041 PMID:24958424 PMID:25741868 PMID:26257172 NCBI chr 2:237,727,782...237,751,327
Ensembl chr 2:237,727,764...237,751,378 		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 ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4
DNA:mutation:exon: g.1512A>G(p.D29G)(human)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18571143 PMID:25741868 PMID:27405012, PMID:18571143 RGD:12910473 NCBI chr 9:61,680,529...61,691,202
Ensembl chr 9:61,680,530...61,690,956 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4 ClinVar PMID:29389947 NCBI chr16:717,821...756,002
Ensembl chr16:716,683...755,990 		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 ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract
ClinVar Annotator: match by OMIM:610532		 OMIM
ClinVar		 PMID:16951682 PMID:17928815 PMID:21911699 PMID:25741868 PMID:28492532 NCBI chr 4:7,661,710...7,770,179
Ensembl chr 4:7,661,558...7,770,232 		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 ClinVar Annotator: match by null
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 6		 ClinVar
OMIM		 PMID:3156966 PMID:3405308 PMID:7983175 PMID:16707859 PMID:18466252 PMID:18851904 PMID:23424103 PMID:23582646 PMID:23595291 PMID:24088041 PMID:24526230 PMID:24706558 PMID:24742798 PMID:24785942 PMID:24850488 PMID:24974158 PMID:25085639 PMID:25168210 PMID:25326635 PMID:25326637 PMID:25356970 PMID:25497598 PMID:25545912 PMID:25741868 PMID:25772097 PMID:26633545 PMID:26643067 PMID:28492532 PMID:28973395 PMID:29451896 PMID:30079973 PMID:32581362 NCBI chr 9:9,961,020...9,968,420
Ensembl chr 9:9,961,021...9,968,486 		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 2:50,099,576...50,499,799
Ensembl chr 2:50,099,576...50,499,799 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar Annotator: match by term: Dentoleukoencephalopathy
ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by term: Leukodystrophy with oligodontia
ClinVar Annotator: match by OMIM:607694		 OMIM
ClinVar		 PMID:614258 PMID:12605447 PMID:17159124 PMID:20640464 PMID:21855841 PMID:22036171 PMID:25339210 PMID:25741868 PMID:26096995 PMID:26752647 PMID:27029625 PMID:27521716 PMID:27535217 PMID:28459997 PMID:28492532 PMID:30414627 PMID:30847471 PMID:31637490 PMID:32214227 PMID:32860008 NCBI chr16:717,821...756,002
Ensembl chr16:716,683...755,990 		JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Pol III-related leukodystrophy
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:22036172 PMID:23355746 PMID:25339210 PMID:25741868 PMID:26204956 NCBI chr 7:24,745,051...24,851,227
Ensembl chr 7:24,745,051...24,851,227 		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 chr16:757,390...762,091
Ensembl chr16:757,403...762,075 		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 Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM ClinVar PMID:14612911 PMID:15087378 PMID:17721994 PMID:18571837 PMID:21244692 PMID:23960188 PMID:24390236 PMID:25186627 PMID:25231023 PMID:25326637 PMID:25741868 PMID:26467025 PMID:26787654 PMID:27153395 PMID:27443514 PMID:27595995 PMID:27878467 PMID:28492532 PMID:28553140 PMID:28828701 PMID:29335925 PMID:30851065 NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624 		JBrowse link
G Polr3b RNA polymerase III subunit B ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism
ClinVar Annotator: match by OMIM:614381		 OMIM
ClinVar		 PMID:18851904 PMID:22036171 PMID:22036172 PMID:23355746 PMID:25133958 PMID:25339210 PMID:25741868 PMID:26204956 PMID:27512013 PMID:28492532 NCBI chr 7:24,745,051...24,851,227
Ensembl chr 7:24,745,051...24,851,227 		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 ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 9
ClinVar Annotator: match by OMIM:616140		 OMIM
ClinVar		 PMID:24777941 PMID:25741868 PMID:27848944 PMID:28492532 PMID:28905880 PMID:30311386 PMID:30791064 NCBI chr10:20,633,630...20,658,074
Ensembl chr10:20,633,632...20,658,100 		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 ClinVar Annotator: match by OMIM:615281
ClinVar Annotator: match by term: Hypomyelination with brainstem and spinal cord involvement and leg spasticity		 OMIM
ClinVar		 PMID:23643384 PMID:25741868 NCBI chr13:45,074,067...45,127,815
Ensembl chr13:45,074,072...45,127,815 		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: Leukodystrophy, Globoid Cell
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency		 ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111 		JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
ClinVar Annotator: match by OMIM:245200		 OMIM
ClinVar		 PMID:3362311 PMID:7437911 PMID:7581365 PMID:8281145 PMID:8297359 PMID:8595408 PMID:8634707 PMID:8687180 PMID:8786069 PMID:8940268 PMID:9005874 PMID:9266397 PMID:9272171 PMID:9338580 PMID:9371928 PMID:10234611 PMID:10448809 PMID:10464649 PMID:10477434 PMID:10833326 PMID:11003282 PMID:11151421 PMID:12699861 PMID:16607461 PMID:16759875 PMID:17579360 PMID:17824908 PMID:19302934 PMID:20135576 PMID:20301416 PMID:20410102 PMID:20886637 PMID:21070211 PMID:21824559 PMID:21876145 PMID:22073273 PMID:22115770 PMID:22520351 PMID:22704718 PMID:23128445 PMID:23138179 PMID:23197103 PMID:23319190 PMID:23430802 PMID:23462331 PMID:23509109 PMID:23620143 PMID:24033266 PMID:24078576 PMID:24252386 PMID:24297913 PMID:24913062 PMID:25260228 PMID:25265039 PMID:25741868 PMID:25956830 PMID:26108647 PMID:26396125 PMID:26539891 PMID:26567009 PMID:26795590 PMID:26865610 PMID:26915362 PMID:27126738 PMID:27238910 PMID:27442402 PMID:27535533 PMID:27638583 PMID:27638593 PMID:27638604 PMID:27679535 PMID:27779215 PMID:27780934 PMID:27785412 PMID:28492532 PMID:28547031 PMID:28598007 PMID:28600779 PMID:28976722 PMID:29120458 PMID:29286531 PMID:29481565 PMID:29615819 PMID:29951496 PMID:29966168 PMID:30089515 PMID:30202406 PMID:30209698 PMID:30311386 PMID:30609409 PMID:30777126 PMID:31053700 PMID:31185936 PMID:31319225 PMID:32576985 PMID:32860008, PMID:2120388 RGD:38599167 NCBI chr 6:122,177,195...122,239,411
Ensembl chr 6:122,178,602...122,239,614 		JBrowse link
G Psap prosaposin ISO
ISS		 ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
OMIM:245200
ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell		 ClinVar
MouseDO		 PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875 		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 chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency
ClinVar Annotator: match by OMIM:611722		 OMIM
ClinVar		 PMID:15773042 PMID:25741868 PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875 		JBrowse link
LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb1 lamin B1 ISO DNA:duplication:cds (human)
ClinVar Annotator: match by term: Leukodystrophy, Adult-Onset
ClinVar Annotator: match by term: Leukodystrophy, adult-onset, autosomal dominant		 ClinVar
OMIM		 PMID:16951681 PMID:19151023 PMID:21225301 PMID:21909802 PMID:23649844 PMID:25741868 PMID:28492532, PMID:16951681 RGD:10044243 NCBI chr18:51,785,111...51,822,264
Ensembl chr18:51,785,111...51,822,264 		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 ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:21419380 PMID:25741868 PMID:28492532 NCBI chr 8:39,848,264...39,866,969
Ensembl chr 8:39,848,448...39,865,130 		JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by OMIM:604004
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:11254442 PMID:25741868 NCBI chr 7:129,949,984...129,970,314
Ensembl chr 7:129,949,967...129,970,550 		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 ISS
ISO		 OMIM:604004
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1		 MouseDO
ClinVar		 PMID:25741868 PMID:29389947 NCBI chr 8:39,848,264...39,866,969
Ensembl chr 8:39,848,448...39,865,130 		JBrowse link
G Mlc1 modulator of VRAC current 1 ISO ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 ClinVar
OMIM		 PMID:11254442 PMID:11935341 PMID:12189496 PMID:12497630 PMID:12939431 PMID:14572144 PMID:14615938 PMID:15037685 PMID:15367490 PMID:15992519 PMID:16470554 PMID:16652334 PMID:18757878 PMID:19168821 PMID:20301707 PMID:20560255 PMID:21145992 PMID:21160490 PMID:21555057 PMID:21624973 PMID:22006981 PMID:22328087 PMID:22405205 PMID:22416245 PMID:23793458 PMID:23851226 PMID:25497041 PMID:25741868 PMID:25767710 PMID:26349194 PMID:27081509 PMID:27322623 PMID:28492532 PMID:28588848 NCBI chr 7:129,949,984...129,970,314
Ensembl chr 7:129,949,967...129,970,550 		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 ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2a
ClinVar Annotator: match by OMIM:613925		 OMIM
ClinVar		 PMID:21419380 PMID:25741868 PMID:30311386 NCBI chr 8:39,848,264...39,866,969
Ensembl chr 8:39,848,448...39,865,130 		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 ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with mental retardation
ClinVar Annotator: match by OMIM:613926		 OMIM
ClinVar		 PMID:20517947 PMID:21419380 PMID:25741868 NCBI chr 8:39,848,264...39,866,969
Ensembl chr 8:39,848,448...39,865,130 		JBrowse link
metachromatic leukodystrophy 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: Metachromatic leukodystrophy
ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type
ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile
ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type
ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe
ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild
ClinVar Annotator: match by term: Arylsulfatase A Deficiency
ClinVar Annotator: match by OMIM:250100
ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe
ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult, UMLS MESH term: Adult-Type Metachromatic Leukodystrophies
ClinVar Annotator: match by synonym: Metachromatic leukodystrophy, late infantile		 ClinVar
OMIM		 PMID:1284530 PMID:1353340 PMID:1357970 PMID:1670590 PMID:1671769 PMID:1673291 PMID:1674719 PMID:1676699 PMID:1678251 PMID:1684088 PMID:1975241 PMID:2574462 PMID:6122378 PMID:7581401 PMID:7649558 PMID:7815433 PMID:7815434 PMID:7825603 PMID:7833949 PMID:7858169 PMID:7860068 PMID:7866401 PMID:7902317 PMID:7906588 PMID:7909527 PMID:7981715 PMID:8095918 PMID:8101038 PMID:8101083 PMID:8104633 PMID:8455580 PMID:8723680 PMID:8891236 PMID:8962139 PMID:8982952 PMID:9090526 PMID:9096767 PMID:9192271 PMID:9402957 PMID:9452102 PMID:9490297 PMID:9600244 PMID:9668161 PMID:9744473 PMID:9819708 PMID:10220151 PMID:10381328 PMID:10459747 PMID:10477432 PMID:10533072 PMID:10751093 PMID:11013459 PMID:11020646 PMID:11061266 PMID:11456299 PMID:11777924 PMID:11941485 PMID:12035837 PMID:12081727 PMID:12086582 PMID:12116203 PMID:12445909 PMID:12503099 PMID:12788103 PMID:12809637 PMID:12809638 PMID:14517960 PMID:14571263 PMID:14680985 PMID:15026521 PMID:15139291 PMID:15211666 PMID:15326627 PMID:15375602 PMID:15720392 PMID:15952986 PMID:16110195 PMID:16546179 PMID:16678723 PMID:16966551 PMID:17438611 PMID:17560502 PMID:18693274 PMID:18768108 PMID:18786133 PMID:18832844 PMID:19021637 PMID:19154224 PMID:19565006 PMID:19606494 PMID:19815439 PMID:20301309 PMID:20339381 PMID:20646068 PMID:20890085 PMID:21167507 PMID:21265945 PMID:22216298 PMID:22798296 PMID:22993277 PMID:23208745 PMID:23559313 PMID:23581857 PMID:23701968 PMID:23845948 PMID:24001781 PMID:24033266 PMID:25297594 PMID:25525159 PMID:25741868 PMID:25965562 PMID:25987178 PMID:26000324 PMID:26131420 PMID:26462614 PMID:26467025 PMID:26553228 PMID:26890752 PMID:26915897 PMID:27261095 PMID:27289174 PMID:27374302 PMID:27779215 PMID:27904824 PMID:28492532 PMID:28667691 PMID:28670130 PMID:28762252 PMID:29544907 PMID:29966168 PMID:30057904 PMID:30293248 PMID:30311386 PMID:30828547 PMID:31694723 PMID:32632536 PMID:32860008, PMID:15375602, PMID:15026521 RGD:1358435, RGD:1358434 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283 		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 2:23,385,154...23,543,028
Ensembl chr 2:23,385,183...23,544,963 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Arylsulfatase A Deficiency
ClinVar Annotator: match by term: Metachromatic leukodystrophy		 ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111 		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 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344 		JBrowse link
G Mal mal, T-cell differentiation protein ISO RGD PMID:15193296 RGD:1358761 NCBI chr 3:120,209,647...120,233,655
Ensembl chr 3:120,209,647...120,233,655 		JBrowse link
G Psap prosaposin ISO
ISS		 ClinVar Annotator: match by term: Metachromatic leukodystrophy
OMIM:249900 | OMIM:250100
ClinVar Annotator: match by term: Arylsulfatase A Deficiency		 ClinVar
MouseDO		 PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875 		JBrowse link
G Scp2 sterol carrier protein 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:25741868 NCBI chr 5:127,647,934...127,735,703
Ensembl chr 5:127,620,274...127,735,739 		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 PMID:25741868 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Saposin B Deficiency OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875 		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 ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination OMIM
ClinVar		 PMID:25741868 PMID:28132692 NCBI chr19:25,783,686...25,801,526
Ensembl chr19:25,783,900...25,801,526 		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 ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION OMIM
ClinVar		 PMID:25741868 PMID:30031689 NCBI chr 8:96,564,877...96,614,386
Ensembl chr 8:96,564,877...96,614,348 		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 chr10:45,526,740...45,535,520
Ensembl chr10:45,526,745...45,534,570 		JBrowse link
G Lmnb1 lamin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:51,785,111...51,822,264
Ensembl chr18:51,785,111...51,822,264 		JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by OMIM:312080
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical, UMLS MESH term: Atypical Pelizaeus Merzbacher Disease
DNA:missense mutation:cds:p.A246T (human)		 ClinVar
CTD
OMIM		 PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 PMID:1720927 PMID:2479017 PMID:2480601 PMID:2773936 PMID:3827224 PMID:7573159 PMID:7574457 PMID:7683951 PMID:8696336 PMID:8723686 PMID:8786077 PMID:9056547 PMID:9482656 PMID:9633722 PMID:9634530 PMID:11071483 PMID:12297985 PMID:12605435 PMID:12910435 PMID:16380909 PMID:18571143 PMID:18835559 PMID:19396823 PMID:20301361 PMID:24088041 PMID:25326635 PMID:25491635 PMID:25741868 PMID:26125040 PMID:26467025 PMID:26633545 PMID:27535533 PMID:28492532 PMID:29451896, PMID:14572140, PMID:10425042 RGD:1358783, RGD:1358559 NCBI chr  X:107,494,326...107,511,355
Ensembl chr  X:107,496,072...107,511,348 		JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
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:8723686 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:26467025 PMID:26633545 PMID:27535533 PMID:28492532 PMID:29451896 NCBI chr  X:107,531,404...107,542,510
Ensembl chr  X:107,531,404...107,542,510 		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 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283 		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:1821204 PMID:3174024 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 chr 8:117,797,954...117,811,989
Ensembl chr 8:117,797,842...117,811,975 		JBrowse link
G Trex1 three prime repair exonuclease 1 ISO 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 Annotator: match by term: Vasculopathy, retinal, with cerebral leukodystrophy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:192315
ClinVar Annotator: match by null		 OMIM
ClinVar
CTD		 PMID:1821204 PMID:3174024 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 chr 8:117,796,127...117,797,427
Ensembl chr 8:117,796,128...117,797,427 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          Nervous System Heredodegenerative Disorders 1952
            Hereditary Central Nervous System Demyelinating Diseases 42
              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 + 26
              megalencephalic leukoencephalopathy with subcortical cysts + 2
              metachromatic leukodystrophy + 7
              retinal vasculopathy with cerebral leukodystrophy 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            Metabolic Brain Diseases 576
              Metabolic Brain Diseases, Inborn 506
                Hereditary Central Nervous System Demyelinating Diseases 42
                  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 + 26
                  megalencephalic leukoencephalopathy with subcortical cysts + 2
                  metachromatic leukodystrophy + 7
                  retinal vasculopathy with cerebral leukodystrophy 2
paths to the root