Disease association ontology term - MONDO:0034121 - NAD(P)HX dehydratase deficiency
Term summary
ID
MONDO:0034121
Name
NAD(P)HX dehydratase deficiency
Ontology or CV name
Disease association
Parents
is_a
autosomal recessive disease
is_a
encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy
is_a
inborn errors of metabolism
Annotation
Disease association
MONDO:0034121
-
NAD(P)HX dehydratase deficiency
References:
PB_REF:0000006
Genes:
nnr2 (SPCC61.03)