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: carbohydrate metabolism disease (MONDO:0037792)
..Starting node ..inborn carbohydrate metabolic disorder ()
Child Nodes:
........congenital disorder of glycosylation ()
........disorder of carbohydrate absorption and transport ()
........disorder of fructose metabolism ()
........disorder of galactose metabolism ()
........disorder of glycolysis ()
........disorder of glyoxylate metabolism ()
........disorders of pentose/polyol metabolism ()
........gluconeogenesis disorder ()
........glucosephosphate dehydrogenase deficiency ()
........GLUT1 deficiency syndrome ()
........glycogen storage disease ()
........hyperinsulinemic hypoglycemia (disease) ()
........inborn disorder of glycerol metabolism ()
........lactose intolerance (disease) ()
........mucopolysaccharidosis ()
........multiple carboxylase deficiency ()
........NGLY1-deficiency ()
........oligosaccharidosis ()
........pyruvate dehydrogenase deficiency ()
Sister Nodes:
..acquired carbohydrate metabolism disease ()
..carbohydrate transport disease ()
..glycerol metabolism disease ()
..hemolytic anemia due to a disorder of glycolytic enzymes ()
..inborn carbohydrate metabolic disorder ()
..intestinal disaccharidase deficiency ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19214
Name:	inborn carbohydrate metabolic disorder
Definition:	An acquired metabolic disease that is has its basis in the disruption of carbohydrate metabolic process.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	carbohydrate metabolic disorder; carbohydrate metabolism disorder; disorder of carbohydrate metabolism; disorder of carbohydrate transport and metabolism; inborn carbohydrate metabolic process disorder; inborn carbohydrate metabolism disorder; inborn error of carbohydrate metabolic process; inborn e
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal