|  Help  |  About  |  Contact Us

DO Term : mitochondrial complex IV deficiency nuclear type 19 [DOID:0070504] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET117 gene on chromosome 20p11.23.
  • synonyms:
  • OMIM:619063,
  • UMLS_CUI:C5436723,
  • 619063,
  • MC4DN19
Quick Links:
 
Quick Links:
 

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