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 myasthenic syndrome (MONDO:0018940)
..Starting node ..congenital myasthenic syndrome with tubular aggregates ()
Child Nodes:
........congenital myasthenic syndrome 12 ()
........congenital myasthenic syndrome 13 ()
........congenital myasthenic syndrome 14 ()
Sister Nodes:
..congenital myasthenic syndrome with tubular aggregates ()
..congenital myasthenic syndromes with glycosylation defect ()
..myasthenia, congenital, refractory to acetylcholinesterase inhibitors ()
..myasthenic syndrome, congenital, 22 ()
..postsynaptic congenital myasthenic syndrome ()
..presynaptic congenital myasthenic syndrome ()
..synaptic congenital myasthenic syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	182
Name:	congenital myasthenic syndrome with tubular aggregates
Definition:	A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	CMS-TA; myasthenic syndrome, congenital, with tubular aggregates
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: SLC39A4;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal