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DO Term : mitochondrial trifunctional protein deficiency 2 [DOID:0060999] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHB gene the beta subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3.
  • synonyms:
  • 620300,
  • OMIM:620300,
  • MTPD2
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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