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: mitochondrial proton-transporting ATP synthase complex deficiency (MONDO:0014471)
..Starting node ..combined oxidative phosphorylation deficiency 22 ()
Child Nodes:
Sister Nodes:
..combined oxidative phosphorylation deficiency 22 ()
..mitochondrial complex V (ATP synthase) deficiency nuclear type 3 () L: 00025;
..mitochondrial complex V (ATP synthase) deficiency nuclear type 4 () L: 00010;
..mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 () L: 00023;
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	20727
Name:	combined oxidative phosphorylation deficiency 22
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	combined oxidative phosphorylation deficiency 22; combined oxidative phosphorylation deficiency 22; COXPD22; combined oxidative phosphorylation deficiency type 22; COXPD22
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal