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Ontology Browser

Term:
mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 (DOID:0050768)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
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  
mitochondrial complex V (ATP synthase) deficiency nuclear type 4  
mitochondrial complex V (ATP synthase) deficiency, nuclear type 1  
A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11. (DO)
Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 5  

Synonyms
Exact Synonyms: MC5DN1 ;   MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE
Primary IDs: OMIM:604273
Alternate IDs: RDO:0008923
Xrefs: ORDO:254913
Definition Sources: http://omim.org/entry/604273

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