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: neuromuscular disease with dilated cardiomyopathy (MONDO:0016334)
Parent Node: progressive muscular dystrophy (MONDO:0016106)
..Starting node ..Emery-Dreifuss muscular dystrophy ()
Child Nodes:
........autosomal dominant Emery-Dreifuss muscular dystrophy ()
........autosomal recessive Emery-Dreifuss muscular dystrophy ()
........scapuloperoneal myopathy ()
........X-linked Emery-Dreifuss muscular dystrophy ()
........X-linked myopathy with postural muscle atrophy ()
Sister Nodes:
..Bethlem myopathy ()
..childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome ()
..congenital fibrosis of extraocular muscles ()
..Duchenne and Becker muscular dystrophy ()
..Emery-Dreifuss muscular dystrophy ()
..facioscapulohumeral muscular dystrophy ()
..hereditary proximal myopathy with early respiratory failure ()
..late-onset scapuloperoneal muscular dystrophy with hyaline bodies ()
..limb-girdle muscular dystrophy ()
..myotonic dystrophy ()
..oculopharyngeal muscular dystrophy ()
..oculopharyngodistal myopathy ()
..progressive scapulohumeroperoneal distal myopathy ()
..Schwartz-Jampel syndrome ()
..X-linked myopathy with excessive autophagy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	16830
Name:	Emery-Dreifuss muscular dystrophy
Definition:	Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	EDMD; Humeroperoneal neuromuscular disease, (formerly); scapuloperoneal syndrome, X-linked (formerly)
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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