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: familial periodic paralysis (MONDO:0000995)
..Starting node ..thyrotoxic periodic paralysis ()
Child Nodes:
........thyrotoxic periodic paralysis, susceptibility to, 1 ()
........thyrotoxic periodic paralysis, susceptibility to, 2 ()
........TTPP3 ()
Sister Nodes:
..Andersen-Tawil syndrome ()
..hypokalemic periodic paralysis ()
..periodic paralysis with later-onset distal motor neuropathy ()
..thyrotoxic periodic paralysis ()
..Westphal disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19201
Name:	thyrotoxic periodic paralysis
Definition:	Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	thyrotoxic hypokalemic periodic paralysis
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal