Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

Ontology Browser
Term:
leukoencephalopathy with vanishing white matter 5 (DOID:0070367)
Annotations: Rat: (5) Mouse: (5) Human: (7) Chinchilla: (5) Bonobo: (5) Dog: (5) Squirrel: (5) Pig: (5) Naked Mole-rat: (5) Green Monkey: (5)
Parent Terms Term With Siblings Child Terms
leukoencephalopathy with vanishing white matter 1  
leukoencephalopathy with vanishing white matter 2  
leukoencephalopathy with vanishing white matter 3  
leukoencephalopathy with vanishing white matter 4  
leukoencephalopathy with vanishing white matter 5  
A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27. (DO)

Synonyms
Exact Synonyms: CLE ;   Cree leukoencephalopathy ;   EIF2B5-RELATED CONDITION ;   VWM5
Primary IDs: MIM:620315
Alternate IDs: DOID:9005314
Xrefs: ORDO:99854
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/12325082/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/34745209/ "DO" "DO", https://www.omim.org/entry/620315 "DO" "DO"

paths to the root