Preferred Name | VIBRATORY URTICARIA | |
Synonyms |
DERMODISTORTIVE URTICARIA VIBRATORY ANGIOEDEMA VBU DDU |
|
ID |
http://purl.bioontology.org/ontology/OMIM/125630 |
|
altLabel |
DERMODISTORTIVE URTICARIA VIBRATORY ANGIOEDEMA VBU DDU |
|
cui |
C0157743 C1852146 C0473546 |
|
Gene Locus |
19p13.1 |
|
Gene Symbol |
ADGRE2 VBU EMR2 |
|
Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU048446 http://purl.bioontology.org/ontology/OMIM/MTHU067116 http://purl.bioontology.org/ontology/OMIM/MTHU067114 http://purl.bioontology.org/ontology/OMIM/MTHU048447 |
|
MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
Moved from |
193050 |
|
notation |
125630 |
|
OMIM Entry Type |
3 |
|
OMIM MimType Value |
pound |
|
prefLabel |
VIBRATORY URTICARIA |
|
Scope Statement |
Caused by mutation in the adhesion G protein-coupled receptor E2 gene (ADGRE2, 606100) [MOLECULAR BASIS] Affected individuals are negative for dermatographism [MISCELLANEOUS] |
|
tui |
T047 |
Create mapping