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 DNA depletion syndrome (MONDO:0018158)
..Starting node ..mitochondrial DNA depletion syndrome, encephalomyopathic form ()
Child Nodes:
........mitochondrial DNA depletion syndrome 13 () L: 00029;
........mitochondrial DNA depletion syndrome 8a () L: 00037;
........mitochondrial DNA depletion syndrome 9 () L: 00038;
........mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria () L: 00034;
Sister Nodes:
..mitochondrial DNA depletion syndrome 1 () L: 00026;
..mitochondrial DNA depletion syndrome 11 () L: 00027;
..mitochondrial DNA depletion syndrome 12 () L: 00028;
..mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant () L: 00527;
..mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) () L: 00505;
..mitochondrial DNA depletion syndrome 15 (hepatocerebral type); () L: 00506;
..mitochondrial DNA depletion syndrome 4b () L: 00033;
..mitochondrial DNA depletion syndrome, encephalomyopathic form ()
..mitochondrial DNA depletion syndrome, hepatocerebral form ()
..mitochondrial DNA depletion syndrome, myopathic form () L: 00030;
..Sengers syndrome () L: 00403;
..spastic ataxia 5 ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	16796
Name:	mitochondrial DNA depletion syndrome, encephalomyopathic form
Definition:	Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	mtDNA depletion syndrome, encephalomyopathic form
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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