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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
IEA
DNA:duplication:cds (human)
ClinVar Annotator: match by term: Leukodystrophy, Adult-Onset
ClinVar Annotator: match by term: Leukodystrophy, adult-onset, autosomal dominant
OMIM:169500
ClinVar
MouseDO
OMIM
PMID:16951681, PMID:19151023, PMID:21225301, PMID:21909802, PMID:23649844, PMID:25741868, PMID:28492532, PMID:16951681 RGD:10044243 NCBI chr18:56,707,813...56,753,424
Ensembl chr18:56,707,813...56,753,424
JBrowse link
combined saposin deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin 23 (otocadherin) 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 chr10:60,302,748...60,696,513
Ensembl chr10:60,302,748...60,696,490
JBrowse link
G Psap prosaposin ISO
IEA
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
OMIM:611721
ClinVar Annotator: match by term: Combined saposin deficiency
ClinVar Annotator: match by OMIM:611721
ClinVar Annotator: match by null
OMIM
ClinVar
MouseDO
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:15773042, 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:26831127, PMID:28492532, PMID:30632081 NCBI chr10:60,277,628...60,302,600
Ensembl chr10:60,277,627...60,302,597
JBrowse link
Dysmyelinating Leukodystrophy with Oligodontia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3a polymerase (RNA) III (DNA directed) polypeptide A ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:25741868, PMID:28459997, PMID:30847471, PMID:31637490 NCBI chr14:24,448,694...24,487,070
Ensembl chr14:24,448,696...24,487,058
JBrowse link
G Polr3b polymerase (RNA) III (DNA directed) polypeptide B ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:22036172, PMID:23355746, PMID:25339210, PMID:25741868, PMID:26204956 NCBI chr10:84,622,292...84,727,178
Ensembl chr10:84,622,292...84,727,178
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 (mitochondrial carrier, Aralar), member 12 ISO
IEA
ClinVar Annotator: match by term: Hypomyelination, global cerebral
OMIM:612949
ClinVar Annotator: match by OMIM:612949
OMIM
ClinVar
MouseDO
PMID:19641205, PMID:24515575, PMID:24973975, PMID:25741868, PMID:28492532 NCBI chr 2:71,274,270...71,367,781
Ensembl chr 2:71,271,063...71,367,749
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 family, member 2 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 10 OMIM
ClinVar
PMID:25741868, PMID:25865492, PMID:27130255, PMID:27860360 NCBI chr 1:180,904,274...180,908,088
Ensembl chr 1:180,904,293...180,908,088
JBrowse link
hypomyelinating leukodystrophy 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1c polymerase (RNA) I polypeptide 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 chr17:46,243,920...46,248,045
Ensembl chr17:46,243,920...46,248,054
JBrowse link
hypomyelinating leukodystrophy 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps11 VPS11, CORVET/HOPS core subunit ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 12 ClinVar
OMIM
PMID:25741868, PMID:26307567, PMID:27120463 NCBI chr 9:44,347,749...44,361,673
Ensembl chr 9:44,347,749...44,361,670
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 7:89,918,685...89,941,223
Ensembl chr 7:89,917,529...89,941,204
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 NCBI chr 3:53,853,376...53,863,807
Ensembl chr 3:53,853,376...53,863,830
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 chr 1:185,361,417...185,428,360
Ensembl chr 1:185,363,044...185,428,360
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 6:13,069,759...13,089,269
Ensembl chr 6:13,069,759...13,089,269
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 chr 5:143,902,704...143,909,839
Ensembl chr 5:143,902,704...143,909,847
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 chr 1:182,275,964...182,282,854
Ensembl chr 1:182,275,772...182,282,804
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 chr 1:180,942,286...180,975,106
Ensembl chr 1:180,942,344...180,975,112
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
IEA
IMP
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2
OMIM:608804
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
MouseDO
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:18094336, PMID:16707726, PMID:21750683, PMID:21959080, PMID:15192806 RGD:13208581, RGD:13208580, RGD:13208533, RGD:13208526, RGD:13208525 NCBI chr11:59,175,564...59,183,213
Ensembl chr11:59,175,568...59,183,213
JBrowse link
G Snap29 synaptosomal-associated protein 29 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2 ClinVar PMID:25356970 NCBI chr16:17,406,000...17,430,826
Ensembl chr16:17,405,986...17,430,827
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 3:132,660,498...132,684,390
Ensembl chr 3:132,660,481...132,684,370
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 1 (chaperonin) 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 1:55,077,833...55,088,243
Ensembl chr 1:55,077,835...55,088,243
JBrowse link
G Polr3a polymerase (RNA) III (DNA directed) polypeptide A ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4 ClinVar PMID:29389947 NCBI chr14:24,448,694...24,487,070
Ensembl chr14:24,448,696...24,487,058
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 5:23,915,276...24,030,696
Ensembl chr 5:23,915,276...24,030,690
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
IEA
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 6
OMIM:612438
ClinVar
MouseDO
OMIM
PMID:3156966, PMID:3405308, PMID:7983175, PMID:12372733, PMID:16707859, PMID:18466252, PMID:18851904, PMID:20191564, PMID:21956287, 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:26318963, PMID:26633545, PMID:26643067, PMID:27188707, PMID:28492532, PMID:28592043, PMID:28655586, PMID:28973395, PMID:29451896, PMID:30079973, PMID:32581362 NCBI chr17:57,080,061...57,087,600
Ensembl chr17:57,080,066...57,087,782
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 chr13:117,602,320...117,981,028
Ensembl chr13:117,602,320...117,987,418
JBrowse link
G Polr3a polymerase (RNA) III (DNA directed) polypeptide A ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
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 NCBI chr14:24,448,694...24,487,070
Ensembl chr14:24,448,696...24,487,058
JBrowse link
G Polr3b polymerase (RNA) III (DNA directed) polypeptide 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 chr10:84,622,292...84,727,178
Ensembl chr10:84,622,292...84,727,178
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 chr14:24,490,678...24,496,960
Ensembl chr14:24,487,125...24,496,959
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 polymerase (RNA) III (DNA directed) polypeptide 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:25339210, PMID:25741868, PMID:26204956, PMID:28492532 NCBI chr10:84,622,292...84,727,178
Ensembl chr10:84,622,292...84,727,178
JBrowse link
hypomyelinating leukodystrophy 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rars arginyl-tRNA synthetase 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 chr11:35,808,381...35,834,528
Ensembl chr11:35,808,381...35,834,506
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 Dars aspartyl-tRNA synthetase 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 chr 1:128,363,707...128,417,416
Ensembl chr 1:128,363,707...128,417,368
JBrowse link
Krabbe disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin 23 (otocadherin) 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 chr10:60,302,748...60,696,513
Ensembl chr10:60,302,748...60,696,490
JBrowse link
G Galc galactosylceramidase ISO
IMP
IEA
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
OMIM:245200
ClinVar Annotator: match by OMIM:245200
OMIM
ClinVar
MouseDO
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: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: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:2120388 RGD:38599167 NCBI chr12:98,202,287...98,259,459
Ensembl chr12:98,202,294...98,259,459
JBrowse link
G Psap prosaposin ISO
IEA
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 chr10:60,277,628...60,302,600
Ensembl chr10:60,277,627...60,302,597
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 23 (otocadherin) ISO ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency ClinVar PMID:25741868 NCBI chr10:60,302,748...60,696,513
Ensembl chr10:60,302,748...60,696,490
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 chr10:60,277,628...60,302,600
Ensembl chr10:60,277,627...60,302,597
JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hepacam hepatocyte cell adhesion molecule ISO
IEA
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
PMID:21419380, PMID:25741868, PMID:28492532 NCBI chr 9:37,367,356...37,386,572
Ensembl chr 9:37,367,351...37,386,575
JBrowse link
G Mlc1 megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human) ISO ClinVar Annotator: match by OMIM:604004
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11254442, PMID:25741868 NCBI chr15:88,955,884...88,982,693
Ensembl chr15:88,955,884...88,979,007
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 hepatocyte 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 9:37,367,356...37,386,572
Ensembl chr 9:37,367,351...37,386,575
JBrowse link
G Mlc1 megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human) ISO
IEA
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1
OMIM:604004
ClinVar
MouseDO
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, PMID:30311386 NCBI chr15:88,955,884...88,982,693
Ensembl chr15:88,955,884...88,979,007
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 hepatocyte 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 9:37,367,356...37,386,572
Ensembl chr 9:37,367,351...37,386,575
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 hepatocyte 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 9:37,367,356...37,386,572
Ensembl chr 9:37,367,351...37,386,575
JBrowse link
metachromatic leukodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsa arylsulfatase A ISO
IEA
ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile
ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type
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
OMIM:249900 | OMIM:250100
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
MouseDO
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: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:15026521, PMID:15375602 RGD:1358434, RGD:1358435 NCBI chr15:89,472,476...89,477,424
Ensembl chr15:89,472,476...89,477,425
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 chr13:93,771,679...93,943,016
Ensembl chr13:93,771,630...93,943,016
JBrowse link
G Cdh23 cadherin 23 (otocadherin) 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 chr10:60,302,748...60,696,513
Ensembl chr10:60,302,748...60,696,490
JBrowse link
G Ercc2 excision repair cross-complementing rodent repair deficiency, complementation group 2 ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:11709541, PMID:20633800, PMID:24728327, PMID:25741868, PMID:27504877 NCBI chr 7:19,382,017...19,395,694
Ensembl chr 7:19,382,010...19,395,694
JBrowse link
G Mal myelin and lymphocyte protein, T cell differentiation protein ISO RGD PMID:15193296 RGD:1358761 NCBI chr 2:127,633,226...127,656,695
Ensembl chr 2:127,633,226...127,656,695
JBrowse link
G Psap prosaposin ISO
ISS
IEA
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 chr10:60,277,628...60,302,600
Ensembl chr10:60,277,627...60,302,597
JBrowse link
G Scp2 sterol carrier protein 2, liver ISO ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:25741868 NCBI chr 4:108,043,830...108,144,971
Ensembl chr 4:108,043,839...108,144,998
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 23 (otocadherin) ISO ClinVar Annotator: match by term: Saposin B Deficiency ClinVar PMID:25741868 NCBI chr10:60,302,748...60,696,513
Ensembl chr10:60,302,748...60,696,490
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Saposin B Deficiency OMIM
ClinVar
PMID:25741868, PMID:28492532 NCBI chr10:60,277,628...60,302,600
Ensembl chr10:60,277,627...60,302,597
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, BEN and BTB (POZ) domain containing ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination OMIM
ClinVar
PMID:24896178, PMID:25363768, PMID:25741868, PMID:28132692 NCBI chr 8:84,670,477...84,687,862
Ensembl chr 8:84,670,479...84,687,902
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 5, 10-methenyltetrahydrofolate synthetase ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION OMIM
ClinVar
PMID:25741868, PMID:30031689 NCBI chr 9:89,211,190...89,240,225
Ensembl chr 9:89,210,676...89,377,713
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 chr11:59,175,564...59,183,213
Ensembl chr11:59,175,568...59,183,213
JBrowse link
G Lmnb1 lamin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:56,707,813...56,753,424
Ensembl chr18:56,707,813...56,753,424
JBrowse link
G Plp1 proteolipid protein (myelin) 1 ISO
IEA
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical
OMIM:312080
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild
ClinVar Annotator: match by OMIM:312080
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
DNA:missense mutation:cds:p.A246T (human)
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical, UMLS MESH term: Atypical Pelizaeus Merzbacher Disease
OMIM
ClinVar
MouseDO
CTD
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:8659540, PMID:8696336, PMID:8723686, PMID:8786077, PMID:9056547, PMID:9482656, PMID:9633722, PMID:9634530, PMID:11071483, 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:26633545, PMID:27535533, PMID:28492532, PMID:29451896, PMID:10425042 RGD:1358559 NCBI chr  X:136,820,148...136,838,582
Ensembl chr  X:136,822,671...136,839,733
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: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:136,858,147...136,868,556
Ensembl chr  X:136,858,147...136,868,755
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 chr15:89,472,476...89,477,424
Ensembl chr15:89,472,476...89,477,425
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: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
ClinVar Annotator: match by term: Vasculopathy, retinal, with cerebral leukodystrophy
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 chr 9:109,059,747...109,074,124
Ensembl chr 9:109,057,933...109,074,124
JBrowse link
G Atrip-trex1 Atrip-Trex1 readthrough 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 chr 9:109,057,933...109,074,097
Ensembl chr 9:109,057,933...109,074,124
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 9:109,057,932...109,059,723
Ensembl chr 9:109,057,933...109,059,734
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13334
    Developmental Diseases 9342
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8175
        genetic disease 7687
          Nervous System Heredodegenerative Disorders 1967
            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 3
Path 2
Term Annotations click to browse term
  disease 13334
    disease of anatomical entity 12815
      nervous system disease 10374
        central nervous system disease 8746
          brain disease 8087
            Metabolic Brain Diseases 588
              Metabolic Brain Diseases, Inborn 518
                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 3
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.