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Bleeding diathesis due to thromboxane synthesis deficiency
1 OMIM reference -
1 associated gene
12 connected diseases
No signs/symptoms info
Disease Type of connection
Familial multiple nevi flammei
Sturge-Weber syndrome
Generalized epilepsy - paroxysmal dyskinesia
Autosomal dominant hypocalcemia
Familial hypocalciuric hypercalcemia type 2
Joubert syndrome with hepatic defect
Joubert syndrome with renal defect
Meckel syndrome
LEOPARD syndrome
Noonan syndrome
Pilocytic astrocytoma
Familial thoracic aortic aneurysm and aortic dissection
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TBXA2R P21731188070
No signs/symptoms info available.