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DO Term : RNASET2-deficient cystic leukoencephalopathy [DOID:0081007] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A leukodystrophy that is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment.

synonyms:
cystic leukoencephalopathy without megalencephaly,
GARD:13199,
612951,
OMIM:612951,
ORDO:85136,
infantile-onset RNASET2 deficient cystic leukoencephalopathy

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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