Search for a rare disease
Other search option(s)
101 Result(s)
More information
Synonym(s) : Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins
More information
Synonym(s) : Adult-onset CPEO with mitochondrial myopathy
More information
More information
More information
Keyword(s) : Mitochondrial tRNA synthetase deficiency
More information
Keyword(s) : Mitochondrial tRNA synthetase deficiency
More information
Synonym(s) : Mitochondrial acetoacetyl-coenzyme A thiolase deficiency
More information
Keyword(s) : Mitochondrial tRNA synthetase deficiency
More information
Keyword(s) : Mitochondrial tRNA synthetase deficiency
More information
Keyword(s) : Mitochondrial tRNA synthetase deficiency
More information
Keyword(s) : Mitochondrial tRNA synthetase deficiency
More information
Keyword(s) : Mitochondrial tRNA synthetase deficiency
More information
Keyword(s) : Mitochondrial tRNA synthetase deficiency
More information
Keyword(s) : Mitochondrial tRNA synthetase deficiency
More information
More information
Synonym(s) : Mitochondrial DNA deletion syndrome with limb-girdle weakness ; Mitochondrial DNA deletion syndrome with progressive myopathy
More information
Keyword(s) : Lethal encephalopathy due to mitochondrial and peroxisomal fission defect
More information
More information
Synonym(s) : Mitochondrial aspartate-glutamate carrier 1 deficiency
More information
Synonym(s) : Fatal mitochondrial disease due to COXPD3
More information
More information
Synonym(s) : Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation
More information
Keyword(s) : Mitochondrial tRNA synthetase deficiency
More information
Synonym(s) : Isolated mitochondrial respiratory chain complex V deficiency
More information
Synonym(s) : Isolated mitochondrial respiratory chain complex I deficiency
More information
Synonym(s) : Isolated mitochondrial respiratory chain complex III deficiency
More information
Synonym(s) : Isolated mitochondrial respiratory chain complex IV deficiency
More information
Synonym(s) : Isolated mitochondrial respiratory chain complex II deficiency
More information
Synonym(s) : Lethal infantile mitochondrial disease
More information
Keyword(s) : Mitochondrial tRNA synthetase deficiency
More information
Keyword(s) : Mitochondrial tRNA synthetase deficiency
More information
Synonym(s) : Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes ; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
More information
Synonym(s) : Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome
More information
More information
Synonym(s) : Mitochondrial diabetes
More information
Synonym(s) : Congenital muscular dystrophy with mitochondrial structural abnormalities
More information
More information
Synonym(s) : Mitochondrial encephalomyopathy-aminoacidopathy syndrome
More information
More information
More information
More information
More information
More information
Synonym(s) : Maternally-inherited mitochondrial dystonia
More information
Synonym(s) : mtDNA-related mitochondrial myopathy ; Maternally-inherited mitochondrial myopathy
More information
More information
More information
More information
More information
Keyword(s) : Mitochondrial tRNA synthetase deficiency
More information
Synonym(s) : Mitochondrial myopathy with reversible COX deficiency ; Mitochondrial myopathy with reversible complex IV deficiency
More information
Synonym(s) : Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome
More information
Synonym(s) : Mitochondrial myopathy-lactic acidosis-hearing loss syndrome
More information
Synonym(s) : Isolated mitochondrial neurosensory deafness ; Isolated mitochondrial sensorineural deafness ; Isolated mitochondrial neurosensory hearing loss ; Isolated mitochondrial sensorineural hearing loss ; Mitochondrial non-syndromic neurosensory deafness ; Mitochondrial non-syndromic neurosensory hearing loss ; Mitochondrial non-syndromic sensorineural hearing loss
More information
Synonym(s) : Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure ; Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure ; Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure ; Mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure ; Mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure ; Mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure ; Mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure
More information
Synonym(s) : OXPHOS disease due to a large-scale single deletion of mitochondrial DNA ; Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA
More information
Synonym(s) : OXPHOS disease due to a point mutation of mitochondrial DNA ; Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA
More information
Synonym(s) : OXPHOS disease due to mitochondrial DNA anomalies ; Mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies
More information
Synonym(s) : Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies
More information
More information
More information
Synonym(s) : Mitochondrial HSP60 chaperonopathy
More information
Keyword(s) : Mitochondrial tRNA synthetase deficiency
More information
Synonym(s) : Fatal infantile encephalopathy with mitochondrial respiratory chain defects
More information
Synonym(s) : Mitochondrial DNA maintenance syndrome due to MGME1 deficiency
More information
Synonym(s) : Mitochondrial encephalomyopathy due to COXPD6 ; Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6
More information
Synonym(s) : Mitochondrial spinocerebellar ataxia with epilepsy
More information
Synonym(s) : Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency ; Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency ; Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency
More information
Synonym(s) : Mitochondrial tryptophanyl-tRNA synthetase deficiency