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: disorder of organic acid metabolism (MONDO:0045022)
Parent Node: inborn disorder of amino acid and other organic acid metabolism (MONDO:0019189)
..Starting node ..inherited organic acidemia ()
Child 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 ()
Sister Nodes:
..disorder of asparagine metabolism ()
..disorder of beta and omega amino acid metabolism ()
..disorder of glutamine metabolism ()
..disorder of melanin metabolism ()
..inborn disorder of amino acid absorption and transport ()
..inborn disorder of ornithine or proline metabolism ()
..inborn disorder of peptide metabolism ()
..inborn disorder of phenylalanin or tyrosine metabolism ()
..inborn disorder of the gamma-glutamyl cycle ()
..inborn disorder of urea cycle metabolism and ammonia detoxification ()
..inherited organic acidemia ()
..severe primary trimethylaminuria ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	688
Name:	inherited organic acidemia
Definition:	An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disorder of organic acid metabolism; inborn error of organic acid metabolic process; inborn organic acid metabolic process disorder; organic acid metabolism disorder; organic acidemia; organic aciduria; rare inborn error of organic acid metabolic process; rare inborn error of organic acid metabolic
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal