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: congenital nemaline myopathy (MONDO:0018701)
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 ..severe congenital nemaline myopathy ()
Child Nodes:
........nemaline myopathy 10 ()
........nemaline myopathy 2 ()
........nemaline myopathy 3 ()
........nemaline myopathy 8 ()
........nemaline myopathy 9 ()
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:	15735
Name:	severe congenital nemaline myopathy
Definition:	Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	severe congenital (neonatal) NM
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal