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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 ..Familial dermographism (C536612)
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:

4130

Name:

Familial dermographism

Definition:

Alternative IDs:

OMIM:125630

ParentIDs:

MESH:D014581

TreeNumbers:

C17.800.862.945/C536612 |C20.543.480.904/C536612

Synonyms:

Slim Mappings:

Immune system disease|Skin disease

Reference:

MedGen: C536612
MeSH: C536612
OMIM: 125630;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001041	Facial erythema
3	HP:0031284	Flushing
4	HP:0001025	Urticaria

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_013447.3(ADGRE2):c.1475G>A (p.Cys492Tyr)	30817	ADGRE2	Pathogenic	199718602	RCV000207461;	N	Gene:29764,MedGen:C1852146,OMIM:125630	19	14865881	14865881	NM_013447.3:c.1475G>A	NP_038475.2:p.Cys492Tyr	NC_000019.9:g.14865881C>T	OMIM Allelic Variant:606100.0001	C1852146 125630 Dermodistortive urticaria