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transketolase deficiency

Disease Summary
Associated Targets (1)
Tchem

1


Explore Associated Targets
Uniprot Description An autosomal recessive syndrome characterized by short stature, developmental delay, intellectual disability and congenital heart defects including ventricular septal defect, atrial septal defect and patent foramen ovale. Cataract and uveitis are observed in some patients.
Mondo Term and Equivalent IDs
MONDO:0014881:  transketolase deficiency
Orphanet:488618: 
UMLS:C4310751: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found