Disease association ontology term - MONDO:0014881 - transketolase deficiency
Term summary
ID
MONDO:0014881
Name
transketolase deficiency
Ontology or CV name
Disease association
Parents
excluded_subClassOf
syndromic intellectual disability
is_a
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
developmental anomaly of metabolic origin
is_a
inborn disorder of pentose phosphate metabolism
is_a
cardiogenetic disease
Annotation
Disease association
MONDO:0014881
-
transketolase deficiency
References:
PB_REF:0000006
Genes:
tkt1 (SPBC2G5.05)