Search Ontology:
Human Disease

progressive leukoencephalopathy with ovarian failure

Term ID
DOID:0070396
Synonyms
  • ovarioleukodystrophy
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. https://pubmed.ncbi.nlm.nih.gov/24808023/
References
Ontology
Human Disease   ( DOID:0070396 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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