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: Duchenne and Becker muscular dystrophy (MONDO:0016899)
Parent Node: qualitative or quantitative defects of dystrophin (MONDO:0016147)
..Starting node ..symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers ()
Child Nodes:
Sister Nodes:
..familial isolated dilated cardiomyopathy ()
..isolated asymptomatic elevation of creatine phosphokinase ()
..symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	16097
Name:	symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Definition:	Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD: see these terms) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
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