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Ontology Browser
Term:
inborn mitochondrial metabolism disorder (EFO:MONDO:0004069)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 
AICA-ribosiduria 
ALDH18A1-related de Barsy syndrome 
arthrogryposis-renal dysfunction-cholestasis syndrome +  
auditory neuropathy-optic atrophy syndrome 
autism spectrum disorder - epilepsy - arthrogryposis syndrome 
autosomal dominant optic atrophy plus syndrome +  
autosomal recessive cutis laxa type 2 +  
B4GALT1-congenital disorder of glycosylation 
Bjornstad syndrome 
CADDS 
cerebral creatine deficiency syndrome +  
CHIME syndrome 
classic homocystinuria 
Cockayne syndrome +  
COG1-congenital disorder of glycosylation 
COG7-congenital disorder of glycosylation 
creatine transporter deficiency 
cutis laxa, autosomal dominant 3 
disorder of fatty acid and ketone body metabolism +  
disorder of glycogen metabolism +  
Ehlers-Danlos syndrome, musculocontractural type 
Ehlers-Danlos syndrome, spondylodysplastic type +  
encephalopathy due to sulfite oxidase deficiency +  
ethylmalonic encephalopathy 
Fabry disease 
Fanconi anemia +  
glycosylphosphatidylinositol biosynthesis defect 15 
GRACILE syndrome 
hereditary myopathy with lactic acidosis due to ISCU deficiency 
hyperphosphatasia-intellectual disability syndrome 
hypophosphatasia +  
inborn mitochondrial metabolism disorder +  
Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.
Larsen-like syndrome, B3GAT3 type 
mandibuloacral dysplasia +  
maternally-inherited cardiomyopathy and hearing loss 
MGAT2-congenital disorder of glycosylation 
mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 
mucolipidosis +  
mucopolysaccharidosis +  
mucopolysaccharidosis-plus syndrome 
mucosulfatidosis 
multiple congenital anomalies-hypotonia-seizures syndrome 1 
multiple congenital anomalies-hypotonia-seizures syndrome 2 
multiple congenital anomalies-hypotonia-seizures syndrome 3 
Neu-Laxova syndrome +  
Nijmegen breakage syndrome 
Nijmegen breakage syndrome-like disorder 
occipital horn syndrome 
oligosaccharidosis +  
optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome 
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 
Peters plus syndrome 
pontocerebellar hypoplasia type 1 
pseudohypoparathyroidism +  
pure mitochondrial myopathy 
pyruvate metabolism disorder +  
RFT1-congenital disorder of glycosylation 
SHORT syndrome 
SLC35A2-congenital disorder of glycosylation 
SLC39A8-CDG 
SSR4-congenital disorder of glycosylation 
sterol biosynthesis disorder +  
temtamy preaxial brachydactyly syndrome 
transketolase deficiency 
tricarboxylic acid cycle disorder +  
Wiedemann-Rautenstrauch syndrome 
X-linked sideroblastic anemia with ataxia 
XYLT1-congenital disorder of glycosylation 
Zellweger spectrum disorders +  

Synonyms
Broad Synonyms: mitochondrial disease
Related Synonyms: mitochondrial genetic disorders ;   mitochondrial metabolism disease
Alternate IDs: MONDO:0004069
Xrefs: DOID:700 ;   GARD:18887 ;   MEDGEN:1778113 ;   MESH:D028361 ;   NANDO:1200173 ;   NANDO:2100163 ;   ORDO:68380 ;   UMLS:C1456275
see_also: https://rarediseases.info.nih.gov/diseases/7048/mitochondrial-genetic-disorders" xsd:anyURI {source="GARD:0007048
Definition Sources: MESH:D028361

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