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Ontology Browser

Term:
mitochondrial complex V (ATP synthase) deficiency nuclear type 3 (DOID:0060332)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
mitochondrial complex V (ATP synthase) deficiency nuclear type 2  
mitochondrial complex V (ATP synthase) deficiency nuclear type 3  
A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13. (DO)
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 

Synonyms
Exact Synonyms: DECREASED ACTIVITY OF MITOCHONDRIAL ATP SYNTHASE COMPLEX ;   MC5DN3 ;   MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5E TYPE
Primary IDs: OMIM:614053 ;   RDO:9000570
Definition Sources: http://omim.org/entry/614053

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