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DO Term : combined oxidative phosphorylation deficiency 52 [DOID:0070425] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chromosome 20q11.
  • synonyms:
  • COXPD52,
  • OMIM:619386,
  • 619386
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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