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: multiple mitochondrial DNA deletion syndrome (MONDO:0016797)
Parent Node: progressive external ophthalmoplegia (MONDO:0005181)
..Starting node ..autosomal recessive progressive external ophthalmoplegia ()
Child Nodes:
........progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 () L: 00118;
........progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 () L: 00510;
Sister Nodes:
..autosomal recessive progressive external ophthalmoplegia ()
..Kearns-Sayre syndrome () L: 00143;
..progressive external ophthalmoplegia with mitochondrial DNA deletions ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	16810
Name:	autosomal recessive progressive external ophthalmoplegia
Definition:	Autosomal recessive form of progressive external ophthalmoplegia.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	arPEO; progressive external ophthalmoplegia, autosomal recessive
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal