Disease association ontology term - MONDO:0020698 - inborn error of biotin metabolism
Term summary
ID
MONDO:0020698
Name
inborn error of biotin metabolism
Ontology or CV name
Disease association
Parents
is_a
inborn errors of metabolism
is_a
biotin metabolic disease
Annotation
Disease association
MONDO:0009666
-
holocarboxylase synthetase deficiency
References:
PB_REF:0000006
Genes:
bpl1 (SPBC30D10.07c)
MONDO:0015454
-
multiple carboxylase deficiency
References:
PB_REF:0000003
Genes:
bpl1 (SPBC30D10.07c)