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: inborn disorder of the gamma-glutamyl cycle (MONDO:0019241)
Parent Node: sulfur metabolism disease (MONDO:0056803)
..Starting node ..inherited glutathione metabolism disease ()
Child Nodes:
........gamma-glutamylcysteine synthetase deficiency ()
........inherited glutathione synthetase deficiency ()
Sister Nodes:
..biotin metabolic disease ()
..hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies ()
..inborn disorder of methionine cycle and sulfur amino acid metabolism ()
..inherited glutathione metabolism disease ()
..inherited lipoic acid biosynthesis defect ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	40566
Name:	inherited glutathione metabolism disease
Definition:	An acquired metabolic disease that is has its basis in the disruption of glutathione metabolic process.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	glutathione metabolism disorder, inherited; inborn error of glutathione metabolic process; inborn error of glutathione metabolism; inborn glutathione metabolic process disorder; rare inborn error of glutathione metabolic process; rare inborn error of glutathione metabolic process
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal