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: inherited lipid metabolism disorder (MONDO:0002525)
Parent Node: inherited organic acidemia (MONDO:0000688)
..Starting node ..inherited fatty acid metabolism disorder ()
Child Nodes:
........carnitine palmitoyl transferase 1A deficiency () L: 00440;
........disorder of fatty acid oxidation and ketogenesis ()
........inherited lipoic acid biosynthesis defect ()
Sister Nodes:
..cerebral organic aciduria ()
..classic organic aciduria ()
..constitutional megaloblastic anemia due to folate metabolism disorder ()
..inborn disorder of bile acid synthesis ()
..inborn error of biotin metabolism ()
..inherited amino acid metabolic disorder ()
..inherited fatty acid metabolism disorder ()
..methylmalonic acidemia ()
..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:	37858
Name:	inherited fatty acid metabolism disorder
Definition:	A group of genetic disorders that result from the inability to produce or use an enzyme required to oxidize fatty acids, resulting in an inability to generate energy from fatty acid sources.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disorder of fat oxidation; disorder of fatty acid metabolism; disorders of fatty-acid metabolism; fatty acid metabolism disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal