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Ontology Browser

Term:
mitochondrial complex V (ATP synthase) deficiency nuclear type 2 (DOID:0060331)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
combined oxidative phosphorylation deficiency 6  
combined oxidative phosphorylation deficiency 7  
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency +   
Hyperglycinemia, Lactic Acidosis, and Seizures  
MELAS syndrome +   
MERRF Syndrome +   
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 1  
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 5  
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 6 
mitochondrial DNA depletion syndrome 13  
mitochondrial DNA depletion syndrome 14  
mitochondrial DNA depletion syndrome 4A +   
mitochondrial DNA depletion syndrome 5  
mitochondrial DNA depletion syndrome 8A  
Mitochondrial Encephalopathy  

Synonyms
Exact Synonyms: MC5DN2 ;   neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency
Primary IDs: MESH:C567528
Alternate IDs: OMIM:614052 ;   RDO:0015586
Xrefs: ICD10CM:G71.3 ;   ORDO:1194
Definition Sources: http://omim.org/entry/614052

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.