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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
COX deficiency, infantile mitochondrial myopathy +   
familial hypertrophic cardiomyopathy +   
Immunodeficiency 93  
infantile hypertrophic cardiomyopathy  
A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has_material_basis_in mutation in the overlapping mitochondrial genes MTATP6 and MTATP8. (DO)
Lipoatrophy with Diabetes, Hepatic Steatosis, Cardiomyopathy, and Leukomelanodermic Papules 
nuclear type mitochondrial complex I deficiency 20  
Sensorineural Deafness with Hypertrophic Cardiomyopathy  

Synonyms
Primary IDs: OMIM:500006
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/19188198 "DO" "DO"

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