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: autosomal recessive disease (MONDO:0006025)
Parent Node: Emery-Dreifuss muscular dystrophy (MONDO:0016830)
..Starting node ..autosomal recessive Emery-Dreifuss muscular dystrophy ()
Child Nodes:
........Emery-Dreifuss muscular dystrophy 3, autosomal recessive ()
Sister 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 ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	8406
Name:	autosomal recessive Emery-Dreifuss muscular dystrophy
Definition:	Autosomal recessive form of Emery-Dreifuss muscular dystrophy.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	EDMD3; Emery-Dreifuss muscular dystrophy, autosomal recessive
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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