Mitochondrial trifunctional protein deficiency 2

Preferred Label : Mitochondrial trifunctional protein deficiency 2;

Symbol : MTPD2;

Type : Phenotype, molecular basis known;

Included titles and symbols : Mitochondrial trifunctional protein deficiency 2 with myopathy and neuropathy;

Prefixed ID : #620300;

Details

Origin ID

620300;

UMLS CUI

C5830374;

Genes related to phenotype
- Hydroxyacyl-coa dehydrogenase/3-ketoacyl-coa thiolase/enoyl-coa hydratase, beta subunit [OMIM gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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