human disease · neurometabolic disease · YYNN

neurometabolic disease

? TBD

human disease

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Subclasses
11

Tangier disease

Medical condition

Wilson's disease

Genetic multisystem copper-transport disease

Abetalipoproteinemia

Medical condition

Metachromatic leukodystrophy

Medical condition

Mitochondrial disease

3-Hydroxyisobutyryl-CoA deacylase deficiency

Autosomal recessive condition

2-Methylbutyryl-CoA dehydrogenase deficiency

Medical condition

syndromic neurometabolic disease with non-X-linked intellectual disability

combined oxidative phosphorylation defect type 25

combined oxidative phosphorylation defect type 30

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Instance of

class of disease

Subclass of

genetic nervous system disorder

Wikidata