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: genetic peripheral neuropathy (MONDO:0020127)
Parent Node: limb-girdle muscular dystrophy (MONDO:0016971)
..Starting node ..autosomal dominant limb-girdle muscular dystrophy ()
Child Nodes:
........autosomal dominant limb-girdle muscular dystrophy type 1A ()
........autosomal dominant limb-girdle muscular dystrophy type 1B ()
........autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) ()
........autosomal dominant limb-girdle muscular dystrophy type 1E (DES) ()
........autosomal dominant limb-girdle muscular dystrophy type 1F ()
........autosomal dominant limb-girdle muscular dystrophy type 1G ()
........autosomal dominant limb-girdle muscular dystrophy type 1H ()
........muscular dystrophy, limb-girdle, autosomal dominant 4 ()
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:	15151
Name:	autosomal dominant limb-girdle muscular dystrophy
Definition:	Autosomal dominant form of limb-girdle muscular dystrophy.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	limb-girdle muscular dystrophy, autosomal dominant; muscular dystrophy, limb-girdle, autosomal dominant
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal