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)
Parent Node: qualitative or quantitative defects of tropomyosin (MONDO:0017303)
..Starting node ..childhood-onset nemaline myopathy ()
Child Nodes:
........nemaline myopathy 1 ()
........nemaline myopathy 2 ()
........nemaline myopathy 3 ()
........nemaline myopathy 4 ()
........nemaline myopathy 6 ()
........nemaline myopathy 9 ()
Sister Nodes:
..cap myopathy ()
..childhood-onset nemaline myopathy ()
..congenital fiber-type disproportion myopathy ()
..intermediate 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:	15738
Name:	childhood-onset nemaline myopathy
Definition:	Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	mild nemaline myopathy
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal