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DO Term : combined oxidative phosphorylation deficiency 37 [DOID:0111499] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A combined oxidative phosphorylation deficiency characterized by hypotonia, failure to thrive, liver disfunction, and neurodegeneration that has_material_basis_in homozygous or compound heterozygous mutation in MICOS13 on chromosome 19p13.3.
  • synonyms:
  • OMIM:618329,
  • 618329,
  • COXPD37
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