MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies (MONDO:0016578)
..Starting node ..mitochondrial DNA maintenance syndrome ()
Child Nodes:
........mitochondrial DNA depletion syndrome ()
........mitochondrial neurogastrointestinal encephalomyopathy ()
........multiple mitochondrial DNA deletion syndrome ()
Sister Nodes:
..Charcot-Marie-Tooth disease recessive intermediate d ()
..Charcot-Marie-Tooth disease type 4K ()
..coenzyme Q10 deficiency ()
..congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome () L: 00045;
..fatal infantile encephalocardiomyopathy ()
..Leigh disease ()
..lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome () L: 00522;
..mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes ()
..mitochondrial disorder due to a defect in mitochondrial protein synthesis ()
..mitochondrial DNA maintenance syndrome ()
..mitochondrial oxidative phosphorylation disorder with no known mechanism ()
..pancreatic insufficiency-anemia-hyperostosis syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18121
Name:	mitochondrial DNA maintenance syndrome
Definition:	An acquired metabolic disease that is has its basis in the disruption of mitochondrial genome maintenance.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	inborn error of mitochondrial genome maintenance; inborn mitochondrial genome maintenance disorder; mtDNA maintenance syndrome; rare inborn error of mitochondrial genome maintenance; rare inborn error of mitochondrial genome maintenance
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal