Mitochondrial respiratory chain defects
Symptom Information:
Symptom ID: | HPO:0200125 | ||
Synonyms: |
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Quality: | |||
Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of metabolism/homeostasis(HPO:0001939) Abnormality of cell physiology(HPO:0011017) Abnormality of the mitochondrion(HPO:0012103) Abnormality of mitochondrial metabolism(HPO:0003287) Mitochondrial respiratory chain defects(HPO:0200125) MedDRA: |
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Database Frequency: | 6 / 7739 | ||
Resource: |
All diseases associated with this symptom:
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | (Orphanet:217371) |
Combined oxidative phosphorylation defect type 13 | (Orphanet:319514) |
Hereditary myopathy with lactic acidosis due to ISCU deficiency | (Orphanet:43115) |
Infantile onset spinocerebellar ataxia | (Orphanet:1186) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | (Orphanet:369897) |
Pontocerebellar hypoplasia type 6 | (Orphanet:166073) |