mitochondrial complex V (ATP synthase) deficiency nuclear type 2 Disease Ontology Browser

Home
Genes
Phenotypes
Human Disease
Expression
Recombinases
Function
Strains / SNPs
Homology
Tumors

About Help FAQ

Search
Download
More Resources
Submit Data
Find Mice (IMSR)
Analysis Tools
Contact Us
Browsers

Disease Ontology Browser

mitochondrial complex V (ATP synthase) deficiency nuclear type 2 (DOID:0060331)
Alliance: disease page
Synonyms: MC5DN2; neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency
Alt IDs: OMIM:614052, ORDO:1194, UMLS_CUI:C4273660
Definition: A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24