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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:leukoencephalopathy with vanishing white matter
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Accession:DOID:0060868 term browser browse the term
Definition:A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood. (DO)
Synonyms:exact_synonym: CACH;   CACH/VWM;   VWM;   childhood ataxia with central nervous system hypomyelination;   childhood ataxia with central nervous system hypomyelinization;   vanishing white matter leukodystrophy;   vanishing white matter leukodystrophy with ovarian failure
 narrow_synonym: ovarioleukodystrophy
 primary_id: MESH:C565836
 xref: GARD:231;   NCI:C122664;   OMIM:PS603896;   ORDO:135;   ORDO:157713;   ORDO:157716;   ORDO:157719


show annotations for term's descendants           Sort by:
leukoencephalopathy with vanishing white matter term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankle2 ankyrin repeat and LEM domain containing 2 ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chr 5:110,378,847...110,404,517
Ensembl chr 5:110,378,870...110,404,513 		JBrowse link
G Arhgef6 Rac/Cdc42 guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chr  X:56,276,845...56,384,119
Ensembl chr  X:56,276,845...56,384,089 		JBrowse link
G Eif2b1 eukaryotic translation initiation factor 2B, subunit alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter		 CTD
ClinVar		 PMID:11835386 PMID:15776425 PMID:16199547 PMID:16807905 PMID:18263758 More... NCBI chr 5:124,708,277...124,717,194
Ensembl chr 5:124,708,276...124,717,194 		JBrowse link
G Eif2b2 eukaryotic translation initiation factor 2B, subunit 2 beta ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:11704758 PMID:12707859 PMID:14566705 PMID:14993275 PMID:15054402 More... RGD:734925 NCBI chr12:85,266,255...85,273,402
Ensembl chr12:85,266,255...85,273,402 		JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B, subunit 3 ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:11835386 PMID:16807905 PMID:18263758 PMID:18414213 PMID:19909266 More... NCBI chr 4:116,876,559...116,944,049
Ensembl chr 4:116,876,599...116,944,503 		JBrowse link
G Eif2b4 eukaryotic translation initiation factor 2B, subunit 4 delta ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter | ClinVar Annotator: match by term: Ovarioleukodystrophy
OMIM:603896		 CTD
ClinVar
MouseDO		 PMID:11835386 PMID:12707859 PMID:15054402 PMID:15136673 PMID:15507143 More... NCBI chr 5:31,344,902...31,350,483
Ensembl chr 5:31,344,902...31,350,774 		JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B, subunit 5 epsilon ISO
IAGP		 ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter
OMIM:603896
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:11704758 PMID:12325082 PMID:12499492 PMID:12707859 PMID:14566705 More... RGD:734925 NCBI chr16:20,317,544...20,328,073
Ensembl chr16:20,317,567...20,328,073 		JBrowse link
G Mlh3 mutL homolog 3 ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter ClinVar PMID:25741868 NCBI chr12:85,281,240...85,317,421
Ensembl chr12:85,281,294...85,317,373 		JBrowse link
leukoencephalopathy with vanishing white matter 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2b1 eukaryotic translation initiation factor 2B, subunit alpha ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1 OMIM
ClinVar		 PMID:9536098 PMID:11835386 PMID:16199547 PMID:17576681 PMID:25741868 More... NCBI chr 5:124,708,277...124,717,194
Ensembl chr 5:124,708,276...124,717,194 		JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B, subunit 3 ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1 ClinVar PMID:25741868 PMID:31072091 NCBI chr 4:116,876,559...116,944,049
Ensembl chr 4:116,876,599...116,944,503 		JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B, subunit 5 epsilon ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1 ClinVar PMID:11704758 PMID:14993275 PMID:15136673 PMID:15776425 PMID:16864840 More... NCBI chr16:20,317,544...20,328,073
Ensembl chr16:20,317,567...20,328,073 		JBrowse link
leukoencephalopathy with vanishing white matter 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2b2 eukaryotic translation initiation factor 2B, subunit 2 beta ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 2 OMIM
ClinVar		 PMID:11704758 PMID:12707859 PMID:14566705 PMID:14993275 PMID:15054402 More... NCBI chr12:85,266,255...85,273,402
Ensembl chr12:85,266,255...85,273,402 		JBrowse link
leukoencephalopathy with vanishing white matter 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2b3 eukaryotic translation initiation factor 2B, subunit 3 ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 3 OMIM
ClinVar		 PMID:11835386 PMID:15776425 PMID:19158808 PMID:20301435 PMID:22312164 More... NCBI chr 4:116,876,559...116,944,049
Ensembl chr 4:116,876,599...116,944,503 		JBrowse link
leukoencephalopathy with vanishing white matter 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2b4 eukaryotic translation initiation factor 2B, subunit 4 delta ISO ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 4 OMIM
ClinVar		 PMID:11835386 PMID:15054402 PMID:15136673 PMID:15507143 PMID:15776425 More... NCBI chr 5:31,344,902...31,350,483
Ensembl chr 5:31,344,902...31,350,774 		JBrowse link
leukoencephalopathy with vanishing white matter 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif2b1 eukaryotic translation initiation factor 2B, subunit alpha ISO ClinVar Annotator: match by term: Cree leukoencephalopathy ClinVar PMID:11835386 PMID:16199547 PMID:25741868 PMID:28492532 NCBI chr 5:124,708,277...124,717,194
Ensembl chr 5:124,708,276...124,717,194 		JBrowse link
G Eif2b3 eukaryotic translation initiation factor 2B, subunit 3 ISO ClinVar Annotator: match by term: Cree leukoencephalopathy ClinVar PMID:25741868 PMID:31072091 NCBI chr 4:116,876,559...116,944,049
Ensembl chr 4:116,876,599...116,944,503 		JBrowse link
G Eif2b5 eukaryotic translation initiation factor 2B, subunit 5 epsilon ISO ClinVar Annotator: match by term: Cree leukoencephalopathy | ClinVar Annotator: match by term: EIF2B5-related condition | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 5 OMIM
ClinVar		 PMID:11704758 PMID:12325082 PMID:12499492 PMID:12707859 PMID:14694060 More... NCBI chr16:20,317,544...20,328,073
Ensembl chr16:20,317,567...20,328,073 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      endocrine system disease 6287
        gonadal disease 1219
          ovarian disease 899
            leukoencephalopathy with vanishing white matter 8
              leukoencephalopathy with vanishing white matter 1 3
              leukoencephalopathy with vanishing white matter 2 1
              leukoencephalopathy with vanishing white matter 3 1
              leukoencephalopathy with vanishing white matter 4 1
              leukoencephalopathy with vanishing white matter 5 3
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      Urogenital Diseases 4892
        Female Urogenital Diseases and Pregnancy Complications 2429
          Female Urogenital Diseases 1965
            female reproductive system disease 1962
              Adnexal Diseases 908
                ovarian disease 899
                  leukoencephalopathy with vanishing white matter 8
                    leukoencephalopathy with vanishing white matter 1 3
                    leukoencephalopathy with vanishing white matter 2 1
                    leukoencephalopathy with vanishing white matter 3 1
                    leukoencephalopathy with vanishing white matter 4 1
                    leukoencephalopathy with vanishing white matter 5 3
paths to the root