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Ontology Browser
Term:
mitochondrial complex V (ATP synthase) deficiency nuclear type 2 (DOID:0060331)
Annotations: Rat: (4) Mouse: (4) Human: (5) Chinchilla: (4) Bonobo: (4) Dog: (4) Squirrel: (4) Pig: (4) Naked Mole-rat: (4) Green Monkey: (4)
Parent Terms Term With Siblings Child Terms
Alpers-Huttenlocher syndrome +   
combined oxidative phosphorylation deficiency 6  
combined oxidative phosphorylation deficiency 7  
COX deficiency, infantile mitochondrial myopathy +   
Hyperglycinemia, Lactic Acidosis, and Seizures  
MELAS syndrome +   
MERRF Syndrome +   
mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1  
mitochondrial complex V (ATP synthase) deficiency nuclear type 1  
mitochondrial complex V (ATP synthase) deficiency nuclear type 2  
A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21. (DO)
mitochondrial complex V (ATP synthase) deficiency nuclear type 3  
mitochondrial complex V (ATP synthase) deficiency nuclear type 4 +   
mitochondrial complex V (ATP synthase) deficiency nuclear type 5  
mitochondrial complex V (ATP synthase) deficiency nuclear type 6  
mitochondrial complex V (ATP synthase) deficiency nuclear type 7  
mitochondrial DNA depletion syndrome 13  
mitochondrial DNA depletion syndrome 14  
mitochondrial DNA depletion syndrome 5  
mitochondrial DNA depletion syndrome 8A  
Mitochondrial Encephalopathy  

Synonyms
Exact Synonyms: MC5DN2 ;   mitochondrial complex V (ATP synthase) deficiency, TMEM70 type ;   neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency ;   nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2
Primary IDs: MESH:C567528
Alternate IDs: OMIM:614052
Xrefs: GARD:12965 ;   ORDO:1194
Definition Sources: http://omim.org/entry/614052 "DO" "DO"

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