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: nemaline myopathy (MONDO:0018958)
Parent Node: qualitative or quantitative defects of alpha-actin (MONDO:0016193)
Parent Node: qualitative or quantitative defects of nebulin (MONDO:0016194)
..Starting node ..adult-onset nemaline myopathy ()
Child Nodes:
Sister Nodes:
..adult-onset nemaline myopathy ()
..childhood-onset nemaline myopathy ()
..intermediate nemaline myopathy ()
..severe congenital nemaline myopathy ()
..typical nemaline myopathy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	15739
Name:	adult-onset nemaline myopathy
Definition:	adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM; see this term) characterized by a very late onset.
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal