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DO Term : combined oxidative phosphorylation deficiency 56 [DOID:0070429] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that has_material_basis_in compound heterozygous mutation in the TAMM41 gene on chromosome 3p25.
  • synonyms:
  • 620139,
  • COXPD56,
  • OMIM:620139
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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