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hypomyelinating leukodystrophy 12
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any leukodystrophy in which the cause of the disease is a mutation in the VPS11 gene.
Uniprot Description An autosomal recessive neurologic disorder characterized by developmental delay, spasticity, truncal hypotonia, acquired microcephaly, intellectual disability with variable seizure disorder, accompanied by thin corpus callosum, paucity of white matter and delayed myelination.
Disease Ontology Description A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0060796
OMIM:616683
Orphanet:466934
UMLS:C4225247
MONDO:0014732
High level summary of knowledge for a disease, including descriptions and datasource references.