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Ontology Browser

Term:
Nuclear Type Mitochondrial Complex I Deficiency 38 (DOID:9001885)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Leber Optic Atrophy, Susceptibility To  
Leber plus disease +   
nuclear type mitochondrial complex I deficiency 1  
nuclear type mitochondrial complex I deficiency 10  
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nuclear type mitochondrial complex I deficiency 2  
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nuclear type mitochondrial complex I deficiency 24  
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nuclear type mitochondrial complex I deficiency 27  
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nuclear type mitochondrial complex I deficiency 30  
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Nuclear Type Mitochondrial Complex I Deficiency 36  
Nuclear Type Mitochondrial Complex I Deficiency 37  
Nuclear Type Mitochondrial Complex I Deficiency 38  
Characterized by bilateral synchronous or asynchronous vision loss with variable recovery of visual acuity. Caused by homozygous mutation in the DNAJC30 gene on chromosome 7q11. (OMIM)
nuclear type mitochondrial complex I deficiency 4  
nuclear type mitochondrial complex I deficiency 5  
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nuclear type mitochondrial complex I deficiency 8  
nuclear type mitochondrial complex I deficiency 9  

Synonyms
Exact Synonyms: LHONAR ;   Leber hereditary optic neuropathy, autosomal recessive ;   MC1DN38
Primary IDs: OMIM:619382

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