Vexas syndrome

Preferred Label : Vexas syndrome;

Symbol : VEXAS;

Type : Phenotype, molecular basis known;

Prefixed ID : #301054;

Origin ID

301054;

UMLS CUI

C5435753;

Currated CISMeF NLP mapping
- VEXAS Syndrome [NCIt concept]
- VEXAS syndrome [MedDRA Preferred Term]
- VEXAS syndrome [ORDO Disease]
- VEXAS syndrome [MeSH Supplementary Concept]
- VEXAS syndrome [DO Concept]
Genes related to phenotype
- Ubiquitin-like modifier-activating enzyme 1 [OMIM gene]
HPO term(s)
- Arteritis [HPO term]
- Arthralgia [HPO term]
- Arthritis [HPO term]
- Autoimmune antibody positivity [HPO term]
- Autosomal dominant somatic cell mutation [HPO term]
- Chondritis of pinna [HPO term]
- Deep venous thrombosis [HPO term]
- Elevated circulating C-reactive protein concentration [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Erythroid dysplasia [HPO term]
- Fatigue [HPO term]
- Inflammatory abnormality of the skin [HPO term]
- Macrocytic anemia [HPO term]
- Megakaryocyte dysplasia [HPO term]
- Middle age onset [HPO term]
- Myelodysplasia [HPO term]
- Nasal chondritis [HPO term]
- Neutrophilic infiltration of the skin [HPO term]
- Night sweats [HPO term]
- Pulmonary infiltrates [HPO term]
- Recurrent fever [HPO term]
- Sensorineural hearing impairment [HPO term]
- Skin plaque [HPO term]
- Thrombocytopenia [HPO term]
- Thromboembolism [HPO term]
ORDO concept(s)
- VEXAS syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- VEXAS Syndrome [NCIt concept]
- VEXAS syndrome [MedDRA Preferred Term]
- VEXAS syndrome [MeSH Supplementary Concept]