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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:hypomyelinating leukodystrophy
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Accession:DOID:0060786 term browser browse the term
Definition:A leukodystrophy characterized by T2 hyperintensity and T1 iso- or hyperintensity of affected white matter in the central nervous system. (DO)
Synonyms:exact_synonym: HLD
 primary_id: RDO:9002766
 xref: OMIM:PS312080
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
adult-onset autosomal dominant demyelinating leukodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmnb1 lamin B1 ISO DNA:duplication:cds (human)
ClinVar Annotator: match by term: Syndrome with microcephaly as major feature
ClinVar Annotator: match by term: Leukodystrophy, Adult-Onset
ClinVar Annotator: match by term: Leukodystrophy, adult-onset, autosomal dominant
ClinVar
OMIM
RGD
PMID:16951681 PMID:19151023 PMID:21225301 PMID:21909802 PMID:23649844 More... RGD:10044243 NCBI chr18:50,175,861...50,215,210
Ensembl chr18:50,175,874...50,214,502
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 chr13:92,626,462...92,630,256
Ensembl chr13:92,626,471...92,634,184
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:22563501 PMID:22855961 More... NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
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:28492532 PMID:32316234 NCBI chr 8:44,683,768...44,698,572
Ensembl chr 8:44,684,127...44,698,568
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 Annotator: match by term: Leukodystrophy, hypomyelinating, 13
ClinVar
OMIM
PMID:25741868 PMID:26545878 NCBI chr 1:143,825,922...143,849,374
Ensembl chr 1:143,825,923...143,849,363
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 Annotator: match by term: Leukodystrophy, hypomyelinating, 14
ClinVar
OMIM
PMID:25741868 PMID:28931644 PMID:29868776 PMID:32860008 NCBI chr 2:137,969,476...137,977,620
Ensembl chr 2:137,966,678...137,978,089
Ensembl chr 2:137,966,678...137,978,089
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 Annotator: match by term: Leukodystrophy, hypomyelinating, 15
ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:29576217 NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966
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 Annotator: match by term: Leukodystrophy, hypomyelinating, 16
ClinVar
OMIM
PMID:25741868 PMID:29186371 PMID:29444210 NCBI chr 4:41,328,125...41,347,315
Ensembl chr 4:41,327,994...41,345,619
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 Annotator: match by term: Leukodystrophy, hypomyelinating, 17
ClinVar
OMIM
PMID:25741868 PMID:29215095 NCBI chr12:10,701,194...10,710,772
Ensembl chr12:10,701,194...10,710,769
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
ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 18
OMIM
ClinVar
PMID:25741868 PMID:30620337 PMID:30620338 PMID:31186544 NCBI chr13:93,946,154...93,953,677
Ensembl chr13:93,946,157...93,953,664
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 chr13:92,662,872...92,696,186
Ensembl chr13:92,663,968...92,696,183
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
RGD
PMID:8733901 PMID:15192806 PMID:16969684 PMID:17031678 PMID:17344063 More... RGD:13208581, RGD:13208580, RGD:13208533, RGD:13208526, RGD:13208525 NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467
JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2 ClinVar PMID:25356970 NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958
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 chr10:85,511,164...85,517,723
Ensembl chr10:85,511,160...85,517,720
JBrowse link
Hypomyelinating Leukodystrophy 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3k RNA polymerase III subunit K ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 21 OMIM
ClinVar
PMID:30584594 NCBI chr 3:168,982,846...168,987,043
Ensembl chr 3:168,982,812...168,987,040
JBrowse link
Hypomyelinating Leukodystrophy 22 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn11 claudin 11 ISO ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 22 OMIM
ClinVar
PMID:33313762 NCBI chr 2:112,207,745...112,221,050
Ensembl chr 2:112,207,745...112,221,050
JBrowse link
Hypomyelinating Leukodystrophy 23 with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnf220 ring finger protein 220 ISO OMIM NCBI chr 5:130,739,173...130,961,386
Ensembl chr 5:130,739,183...130,961,418
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 More... NCBI chr 2:221,151,907...221,175,458
Ensembl chr 2:221,151,904...221,175,728
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
RGD
PMID:18571143 PMID:24033266 PMID:25741868 PMID:27405012 PMID:28492532 More... RGD:12910473 NCBI chr 9:56,579,195...56,590,011
Ensembl chr 9:56,579,201...56,589,662
JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4 ClinVar PMID:29389947 NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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:20301737 PMID:21911699 PMID:25741868 More... NCBI chr 4:11,132,224...11,239,120
Ensembl chr 4:11,132,385...11,239,113
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 More... NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291
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 Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome
ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by OMIM:607694
OMIM
ClinVar
PMID:614258 PMID:12605447 PMID:17159124 PMID:20640464 PMID:21855841 More... NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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:22855961 PMID:23355746 PMID:24190003 PMID:25339210 More... NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
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:22855961 PMID:25741868 PMID:27029625 NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279
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 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:22855961 PMID:23355746 More... NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598
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 More... NCBI chr10:20,270,744...20,295,192
Ensembl chr10:20,270,483...20,295,196
JBrowse link
Pelizaeus-Merzbacher disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bex2 brain expressed X-linked 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:99,019,847...99,021,375
Ensembl chr  X:99,019,000...99,021,503
JBrowse link
G Bex3 brain expressed X-linked 3 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:99,273,238...99,274,799
Ensembl chr  X:99,273,161...99,274,800
JBrowse link
G Gjc2 gap junction protein, gamma 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:23143715 PMID:25741868 PMID:31319225 NCBI chr10:43,962,642...43,971,358
Ensembl chr10:43,962,642...43,970,467
JBrowse link
G Lmnb1 lamin B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:50,175,861...50,215,210
Ensembl chr18:50,175,874...50,214,502
JBrowse link
G Morf4l2 mortality factor 4 like 2 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:100,082,562...100,093,658
Ensembl chr  X:100,082,404...100,093,728
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
DNA:missense mutation:cds:p.A246T (human)
ClinVar Annotator: match by OMIM:312080
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical, UMLS MESH term: Atypical Pelizaeus Merzbacher Disease
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
RGD
PMID:1376966 PMID:1384324 PMID:1605230 PMID:1707231 PMID:1715570 More... RGD:1358783, RGD:1358559 NCBI chr  X:100,184,039...100,201,035
Ensembl chr  X:100,185,767...100,201,032
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 More... NCBI chr  X:100,220,897...100,231,591
Ensembl chr  X:100,220,894...100,231,701
JBrowse link
G Tceal1 transcription elongation factor A like 1 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:100,058,485...100,060,439
Ensembl chr  X:100,058,132...100,060,551
JBrowse link
G Tceal3 transcription elongation factor A like 3 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:100,010,675...100,012,637
Ensembl chr  X:100,010,690...100,012,654
JBrowse link
G Tceal5 transcription elongation factor A like 5 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:99,204,422...99,207,373
Ensembl chr  X:99,204,429...99,207,353
JBrowse link
G Tceal7 transcription elongation factor A like 7 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:99,228,405...99,230,551
Ensembl chr  X:99,228,458...99,230,543
JBrowse link
G Tceal8 transcription elongation factor A like 8 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:99,171,307...99,173,377
Ensembl chr  X:99,171,177...99,173,710
JBrowse link
G Tceal9 transcription elongation factor A like 9 ISO ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:31690835 NCBI chr  X:99,245,645...99,247,715
Ensembl chr  X:99,228,458...99,247,763
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        genetic disease 9072
          Nervous System Heredodegenerative Disorders 2141
            Hereditary Central Nervous System Demyelinating Diseases 53
              hypomyelinating leukodystrophy 36
                Hypomyelinating Leukodystrophy 15 1
                Hypomyelinating Leukodystrophy 16 1
                Hypomyelinating Leukodystrophy 17 1
                Hypomyelinating Leukodystrophy 18 1
                Hypomyelinating Leukodystrophy 19 1
                Hypomyelinating Leukodystrophy 21 1
                Hypomyelinating Leukodystrophy 22 1
                Hypomyelinating Leukodystrophy 23 with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy 1
                Pelizaeus-Merzbacher disease + 13
                hypomyelinating leukodystrophy 10 1
                hypomyelinating leukodystrophy 11 1
                hypomyelinating leukodystrophy 12 1
                hypomyelinating leukodystrophy 13 1
                hypomyelinating leukodystrophy 14 1
                hypomyelinating leukodystrophy 2 2
                hypomyelinating leukodystrophy 20 1
                hypomyelinating leukodystrophy 3 1
                hypomyelinating leukodystrophy 4 2
                hypomyelinating leukodystrophy 5 1
                hypomyelinating leukodystrophy 6 1
                hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 3
                hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 1
                hypomyelinating leukodystrophy 9 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        central nervous system disease 10477
          brain disease 9840
            Metabolic Brain Diseases 613
              Metabolic Brain Diseases, Inborn 542
                Hereditary Central Nervous System Demyelinating Diseases 53
                  hypomyelinating leukodystrophy 36
                    Hypomyelinating Leukodystrophy 15 1
                    Hypomyelinating Leukodystrophy 16 1
                    Hypomyelinating Leukodystrophy 17 1
                    Hypomyelinating Leukodystrophy 18 1
                    Hypomyelinating Leukodystrophy 19 1
                    Hypomyelinating Leukodystrophy 21 1
                    Hypomyelinating Leukodystrophy 22 1
                    Hypomyelinating Leukodystrophy 23 with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy 1
                    Pelizaeus-Merzbacher disease + 13
                    hypomyelinating leukodystrophy 10 1
                    hypomyelinating leukodystrophy 11 1
                    hypomyelinating leukodystrophy 12 1
                    hypomyelinating leukodystrophy 13 1
                    hypomyelinating leukodystrophy 14 1
                    hypomyelinating leukodystrophy 2 2
                    hypomyelinating leukodystrophy 20 1
                    hypomyelinating leukodystrophy 3 1
                    hypomyelinating leukodystrophy 4 2
                    hypomyelinating leukodystrophy 5 1
                    hypomyelinating leukodystrophy 6 1
                    hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism 3
                    hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 1
                    hypomyelinating leukodystrophy 9 1
paths to the root