MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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MSeqDR-LSDB
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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: genetic peripheral neuropathy (MONDO:0020127)
Parent Node: limb-girdle muscular dystrophy (MONDO:0016971)
..Starting node ..autosomal recessive limb-girdle muscular dystrophy ()
Child Nodes:
........autosomal recessive limb-girdle muscular dystrophy type 2A ()
........autosomal recessive limb-girdle muscular dystrophy type 2B ()
........autosomal recessive limb-girdle muscular dystrophy type 2C ()
........autosomal recessive limb-girdle muscular dystrophy type 2D ()
........autosomal recessive limb-girdle muscular dystrophy type 2E ()
........autosomal recessive limb-girdle muscular dystrophy type 2F ()
........autosomal recessive limb-girdle muscular dystrophy type 2G ()
........autosomal recessive limb-girdle muscular dystrophy type 2H ()
........autosomal recessive limb-girdle muscular dystrophy type 2I ()
........autosomal recessive limb-girdle muscular dystrophy type 2J ()
........autosomal recessive limb-girdle muscular dystrophy type 2K ()
........autosomal recessive limb-girdle muscular dystrophy type 2L ()
........autosomal recessive limb-girdle muscular dystrophy type 2M ()
........autosomal recessive limb-girdle muscular dystrophy type 2N ()
........autosomal recessive limb-girdle muscular dystrophy type 2O ()
........autosomal recessive limb-girdle muscular dystrophy type 2P ()
........autosomal recessive limb-girdle muscular dystrophy type 2Q ()
........autosomal recessive limb-girdle muscular dystrophy type 2R ()
........autosomal recessive limb-girdle muscular dystrophy type 2S ()
........autosomal recessive limb-girdle muscular dystrophy type 2T ()
........autosomal recessive limb-girdle muscular dystrophy type 2U ()
........autosomal recessive limb-girdle muscular dystrophy type 2W ()
........autosomal recessive limb-girdle muscular dystrophy type 2X ()
........autosomal recessive limb-girdle muscular dystrophy type 2Y ()
........autosomal recessive limb-girdle muscular dystrophy type 2Z ()
........epidermolysis bullosa simplex with muscular dystrophy ()
........limb-girdle muscular dystrophy due to POMK deficiency ()
........muscular dystrophy, limb-girdle, autosomal recessive 23 ()
........muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 ()
Sister Nodes:
..autosomal dominant limb-girdle muscular dystrophy ()
..autosomal recessive limb-girdle muscular dystrophy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	15152
Name:	autosomal recessive limb-girdle muscular dystrophy
Definition:	Autosomal recessive form of limb-girdle muscular dystrophy.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	limb-girdle muscular dystrophy, autosomal recessive; muscular dystrophy, limb-girdle, autosomal recessive
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal

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