Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2

Preferred Label : Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2;

NCIt synonyms : PEBEL2; NAD(P)HX Dehydratase Deficiency;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the NAXD gene, encoding ATP-dependent (S)-NAD(P)H-hydrate dehydratase.;

NCI Metathesaurus CUI : CL1910010;

Details

Origin ID

C206115;

Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]

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