Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

VIBRATORY URTICARIA
Synonyms

DERMODISTORTIVE URTICARIA
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

http://purl.bioontology.org/ontology/OMIM/MTHU067115

http://purl.bioontology.org/ontology/OMIM/MTHU048448
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
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C536612 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10082471 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10047396 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10052571 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10047396 MEDDRA CUI
http://purl.bioontology.org/ontology/MSHFRE/D000094482 MSHFRE CUI
http://purl.bioontology.org/ontology/ICD9CM/708.4 ICD9CM CUI
http://purl.bioontology.org/ontology/MDRFRE/10052571 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/51247001 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/M284. RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10047396 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/51247001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/D000094482 MESH CUI
http://purl.bioontology.org/ontology/ICD10/L50.4 ICD10 CUI
http://purl.bioontology.org/ontology/MEDDRA/10052571 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10CM/L50.4 ICD10CM CUI
http://purl.bioontology.org/ontology/SNMI/D0-20112 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/238694002 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C536347 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10082471 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/238694002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/X508a RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10082471 MEDDRA CUI
http://www.ebi.ac.uk/efo/EFO_1000775 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0006618 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_1554 DOID LOOM
http://purl.bioontology.org/ontology/MEDDRA/10047396 MEDDRA LOOM
http://purl.jp/bio/4/id/200906033338032015 IOBC LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14147 DERMLEX LOOM
http://purl.bioontology.org/ontology/ICD9CM/708.4 ICD9CM LOOM
http://purl.bioontology.org/ontology/RCTV2/M284.00 RCTV2 LOOM
http://purl.bioontology.org/ontology/RCD/M284. RCD LOOM
http://purl.obolibrary.org/obo/HP_0410138 HP LOOM
http://purl.obolibrary.org/obo/HP_0410138 UPHENO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1554 NATPRO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00009161 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/51247001 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/DOID_1554 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1554 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1554 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_1554 FNS-H LOOM
http://purl.obolibrary.org/obo/MONDO_0006618 DOVES LOOM
http://purl.bioontology.org/ontology/ICD10/L50.4 ICD10 LOOM
http://www.orpha.net/ORDO/Orphanet_493342 ORDO LOOM
http://purl.bioontology.org/ontology/ICD10CM/L50.4 ICD10CM LOOM
http://purl.bioontology.org/ontology/SNMI/D0-20112 SNMI LOOM