Mitochondrial respiratory chain defects

Symptom Information:

Symptom ID: HPO:0200125
Synonyms:
Mitochondrial respiratory chain defects [OMIM:Mitochondrial respiratory chain defects]
Mitochondrial respiratory chain defects (skeletal muscle, fibroblasts) [OMIM:Mitochondrial respiratory chain defects (skeletal muscle, fibroblasts)]
Quality:
Cross references:
OMIM: "Mitochondrial respiratory chain defects" [OMIM:Mitochondrial respiratory chain defects]
OMIM: "Mitochondrial respiratory chain defects (skeletal muscle, fibroblasts)" [OMIM:Mitochondrial respiratory chain defects (skeletal muscle, fibroblasts)]
Is a (Direct Parents):
HPO         Abnormality of mitochondrial metabolism
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:
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)