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: coenzyme Q10 deficiency (MONDO:0018151)
Parent Node: Leigh disease (MONDO:0018859)
..Starting node ..Leigh syndrome with nephrotic syndrome ()
Child Nodes:
........coenzyme Q10 deficiency, primary, 1 () L: 00090;
........coenzyme Q10 deficiency, primary, 3 () L: 00447;
Sister Nodes:
..congenital lactic acidosis, Saguenay-Lac-Saint-Jean type () L: 00389;
..Leigh syndrome () L: 00015;
..Leigh syndrome with nephrotic syndrome ()
..necrotizing encephalomyelopathy, subacute, of Leigh, adult () L: 00433;
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	16816
Name:	Leigh syndrome with nephrotic syndrome
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	infantile subacute necrotizing encephalopathy with nephrotic syndrome; Leigh disease with nephrotic syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal