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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

Disease Browser
Parent Node: Urticaria (D014581)
..Starting node ..Urticaria, Familial Localized Heat (C566011)
Child Nodes:
Sister Nodes:
..Angioedema (D000799) 5
..FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 (OMIM:120100)
..Familial dermographism (C536612)
..MUCKLE-WELLS SYNDROME (OMIM:191900)
..Papular urticaria (C537169)
..Urticaria, Aquagenic (C562481)
..Urticaria, Familial Localized Heat (C566011)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11440

Name:

Urticaria, Familial Localized Heat

Definition:

Alternative IDs:

ParentIDs:

MESH:D014581

TreeNumbers:

C17.800.862.945/C566011 |C20.543.480.904/C566011

Synonyms:

Slim Mappings:

Immune system disease|Skin disease

Reference:

MedGen: C566011
MeSH: C566011
OMIM: 191950;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001025	Urticaria

Disease Causing ClinVar Variants