WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Ontology Relation :

Relationship  is_a Parent Term . Identifier  DOID:0060868
Child Term . Identifier  DOID:0070373 Direct  true
Redundant  false

1 Child Term

Identifier Name Description
DOID:0070373 leukoencephalopathy with vanishing white matter 2 A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B2 gene on chromosome 14q24.

1 Parent Term

Identifier Name Description
DOID:0060868 leukoencephalopathy with vanishing white matter 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.