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: developmental anomaly of metabolic origin (MONDO:0015327)
Parent Node: inborn disorder of energy metabolism (MONDO:0019243)
Parent Node: mitochondrial disease (MONDO:0044970)
..Starting node ..inborn mitochondrial metabolism disorder ()
Child Nodes:
........hypotonia-cystinuria syndrome type 1 ()
........inborn mitochondrial myopathy () L: 00400;
........inherited lipoic acid biosynthesis defect ()
........mitochondrial complex deficiency ()
........mitochondrial disease with dilated cardiomyopathy ()
........mitochondrial disease with epilepsy ()
........mitochondrial disease with hypertrophic cardiomyopathy ()
........mitochondrial disease with peripheral neuropathy ()
........mitochondrial membrane transport disorder ()
........mitochondrial oxidative phosphorylation disorder ()
........unspecified inborn mitochondrial disorder ()
Sister Nodes:
..inborn mitochondrial metabolism disorder ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	4069
Name:	inborn mitochondrial metabolism disorder
Definition:	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.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	mitochondrial disease; mitochondrial genetic disorders; mitochondrial metabolism disease
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal