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 energy metabolism (MONDO:0019243)
..Starting node ..inborn disorder of fatty acid oxidation and ketone body metabolism ()
Child Nodes:
........disorder of carnitine cycle and carnitine transport ()
........disorder of fatty acid oxidation and ketogenesis ()
........disorder of ketone body transport ()
........inborn disorder of ketolysis ()
........metabolic disease due to other fatty acid oxidation disorder ()
Sister 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 ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19223
Name:	inborn disorder of fatty acid oxidation and ketone body metabolism
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disorder of fatty acid oxidation and ketone body metabolism
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal