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: centronuclear myopathy (MONDO:0018947)
Parent Node: genetic peripheral neuropathy (MONDO:0020127)
Parent Node: qualitative or quantitative defects of titin (MONDO:0016191)
..Starting node ..autosomal recessive centronuclear myopathy ()
Child Nodes:
........myopathy, centronuclear, 2 ()
........myopathy, centronuclear, 5 ()
Sister Nodes:
..autosomal recessive centronuclear myopathy ()
..autosomal recessive limb-girdle muscular dystrophy type 2J ()
..early-onset myopathy with fatal cardiomyopathy ()
..hereditary proximal myopathy with early respiratory failure ()
..tibial 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:	15705
Name:	autosomal recessive centronuclear myopathy
Definition:	Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	AR-CNM; centronuclear myopathy, autosomal recessive
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
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