Abnormality of mitochondrial metabolism

Symptom Information:

Symptom ID: HPO:0003287
Synonyms:
Mitochondrial dysfunction [HPO:0003287]
Mitochondrial disease [Orphanet:49380]
Mitochondrial Diseases [Orphanet:49380]
Respiratory chain /mitochondrial anomalies [Orphanet:49380]
Quality:
Cross references:
Orphanet:49380 "Respiratory chain /mitochondrial anomalies" [Orphanet:49380]
UMLS:C0751651 "Mitochondrial Diseases" [Orphanet:49380]
Is a (Direct Parents):
Orphanet Abnormality of metabolism/homeostasis
HPO         Mitochondrial depletion
HPO         Abnormality of the mitochondrion
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)
MedDRA:
Database Frequency: 12 / 7739
Resource:

All diseases associated with this symptom:

2p21 microdeletion syndrome (Orphanet:163693)
Atherosclerosis - deafness - diabetes - epilepsy - nephropathy (Orphanet:1192)
Autosomal dominant spastic paraplegia type 31 (Orphanet:101011)
Barth syndrome (Orphanet:111)
COWDEN SYNDROME 3 (OMIM:615106)
Combined oxidative phosphorylation defect type 17 (Orphanet:369913)
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome (Orphanet:1369)
Leber hereditary optic neuropathy (Orphanet:104)
MELAS (Orphanet:550)
MERRF (Orphanet:551)
Pearson syndrome (Orphanet:699)
Reticular dysgenesis (Orphanet:33355)