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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:vibratory urticaria
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Accession:DOID:1554 term browser browse the term
Definition:A physical urticaria that is characterized by itching, reddish skin and swelling within minutes of local exposure to dermal vibration and that has_material_basis_in heterozygous mutation in the ADGRE2 gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: ADGRE2-RELATED CONDITION;   VBU;   VIBRATORY ANGIOEDEMA
 primary_id: MESH:D000094482
 alt_id: MESH:C536347;   MIM:125630
 xref: EFO:1000775;   GARD:9806;   ICD10CM:L50.4;   ICD9CM:708.4
For additional species annotation, visit the Alliance of Genome Resources.


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vibratory urticaria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRE2 adhesion G protein-coupled receptor E2 IAGP ClinVar Annotator: match by term: Vibratory urticaria
ClinVar Annotator: match by term: ADGRE2-related condition | ClinVar Annotator: match by term: Vibratory urticaria		 ClinVar
OMIM		 PMID:7294069 PMID:25741868 PMID:28492532 NCBI chr19:14,724,171...14,778,560
Ensembl chr19:14,732,392...14,778,560 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97458
    sensory system disease 21132
      skin disease 11000
        vascular skin disease 583
          angioedema 47
            vibratory urticaria 1
Path 2
Term Annotations click to browse term
  disease 97458
    Pathological Conditions, Signs and Symptoms 53753
      Signs and Symptoms 35622
        Neurologic Manifestations 32033
          sensory system disease 21132
            skin disease 11000
              vascular skin disease 583
                urticaria 81
                  physical urticaria 1
                    vibratory urticaria 1
paths to the root