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: physical urticaria (MONDO:0006599)
..Starting node ..cholinergic urticaria ()
Child Nodes:
Sister Nodes:
..cholinergic urticaria ()
..familial dermatographia ()
..vibratory urticaria ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	6534
Name:	cholinergic urticaria
Definition:	a type of physical urticarias (or hives) that appears when a person is sweating.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: KCNE1;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal