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 mitochondrial DNA anomalies (MONDO:0016791)
..Starting node ..mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA ()
Child Nodes:
........hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation ()
........Leber hereditary optic neuropathy () L: 00072;
........Leber plus disease ()
........maternally-inherited diabetes and deafness () L: 00165;
........maternally-inherited Leigh syndrome ()
........maternally-inherited mitochondrial dystonia ()
........maternally-inherited mitochondrial myopathy ()
........MELAS syndrome () L: 00163;
........MERRF syndrome () L: 00162;
........mitochondrial non-syndromic sensorineural deafness () L: 00159;
........mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure () L: 00051;
........NARP syndrome () L: 00168;
........periodic paralysis with later-onset distal motor neuropathy ()
Sister Nodes:
..mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA ()
..mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA ()
..mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	16793
Name:	mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA; OXPHOS disease due to a point mutation of mitochondrial DNA; OXPHOS disease due to a point mutation of mtDNA
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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