FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term progressive leukoencephalopathy with ovarian failure ID (Ontology) DOID:0070396 (Human Disease)
Definition An leukodystrophy characterized by loss of motor and cognitive skills, usually with onset in young adulthood, that has_material_basis_in compound heterozygous mutation in the AARS2 gene on chromosome 6p21.
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 Genes
 progressive leukoencephalopathy with ovarian failure       2
 for disease ribbon | progressive leukoencephalopathy with ovarian failure       2
 model of | progressive leukoencephalopathy with ovarian failure       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
cerebral degeneration            |
 |__leukodystrophy_______________|
                                 progressive leukoencephalopathy with ovarian failure  2 rec.
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Is a autosomal recessive disease
leukodystrophy
Part of
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Synonyms
  • "ovarioleukodystrophy" RELATED
Secondary IDs
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MIM:615889