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Term:
mitochondrial DNA depletion syndrome 14 (DOID:0080336)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
chronic progressive external ophthalmoplegia +   
combined oxidative phosphorylation deficiency 3  
combined oxidative phosphorylation deficiency 6  
combined oxidative phosphorylation deficiency 7  
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy  
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  
mitochondrial DNA depletion syndrome 1  
mitochondrial DNA depletion syndrome 11  
mitochondrial DNA depletion syndrome 12a  
mitochondrial DNA depletion syndrome 12b  
mitochondrial DNA depletion syndrome 13  
mitochondrial DNA depletion syndrome 14  
A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29. (DO)
mitochondrial DNA depletion syndrome 15  
Mitochondrial DNA Depletion Syndrome 16  
Mitochondrial DNA Depletion Syndrome 17  
mitochondrial DNA depletion syndrome 2  
mitochondrial DNA depletion syndrome 3  
mitochondrial DNA depletion syndrome 4A +   
mitochondrial DNA depletion syndrome 4B  
mitochondrial DNA depletion syndrome 5  
mitochondrial DNA depletion syndrome 6  
mitochondrial DNA depletion syndrome 8A  
mitochondrial DNA depletion syndrome 8b  
mitochondrial DNA depletion syndrome 9  
Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive +   
Mitochondrial DNA Depletion Syndrome, Myopathic Form +   
mitochondrial encephalomyopathy +   
Mitochondrial Encephalopathy  
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport 
Mitochondrial Myopathy with Diabetes 
Mitochondrial Myopathy with Lactic Acidosis  
Mitochondrial Myopathy, and Ataxia  
Mitochondrial Myopathy, Infantile, Transient  
Mitochondrial Myopathy, Lethal Infantile  
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT  
NARP syndrome  
Sengers syndrome  

Synonyms
Exact Synonyms: MTDPS14 ;   mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) ;   mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)
Primary IDs: OMIM:616896
Alternate IDs: RDO:9001681
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/26561570, https://www.ncbi.nlm.nih.gov/pubmed/28215579, https://www.ncbi.nlm.nih.gov/pubmed/28494813, https://www.omim.org/entry/616896

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