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
..Starting node ..inborn disorder of energy metabolism ()
Child Nodes:
........energy metabolism disorder with epilepsy ()
........glycogen storage disease ()
........inborn disorder of fatty acid oxidation and ketone body metabolism ()
........inborn mitochondrial metabolism disorder ()
........pyruvate metabolism disorder ()
........tricarboxylic acid cycle disorder ()
Sister Nodes:
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19243
Name:	inborn disorder of energy metabolism
Definition:	An acquired metabolic disease that is has its basis in the disruption of generation of precursor metabolites and energy.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disorder of energy metabolism; inborn error of generation of precursor metabolites and energy; inborn generation of precursor metabolites and energy disorder; rare inborn error of generation of precursor metabolites and energy; rare inborn error of generation of precursor metabolites and energy
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal