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 ..Westphal disease ()
Child Nodes:
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:	42980
Name:	Westphal disease
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	HD- Westphal variant; Westphal disease; Westphal variant of Huntington's disease
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal