Disease association ontology term - MONDO:0019215 - classic organic aciduria
Term summary
ID
MONDO:0019215
Name
classic organic aciduria
Ontology or CV name
Disease association
Parents
is_a
inborn organic aciduria
Annotation
Disease association
MONDO:0009603
-
3-hydroxyisobutyryl-CoA hydrolase deficiency
References:
PB_REF:0000006
Genes:
snr1 (SPBC2D10.09)
MONDO:0009787
-
3-methylglutaconic aciduria type 3
References:
PB_REF:0000006
Genes:
opa3 (SPBC1703.11)
MONDO:0012435
-
3-methylglutaconic aciduria type 5
References:
PB_REF:0000006
Genes:
pam18 (SPAC824.06)
MONDO:0044723
-
3-methylglutaconic aciduria type 8
References:
PB_REF:0000006
Genes:
htr11 (SPBC1685.05)
htr12 (SPAC23G3.12c)
MONDO:0044724
-
3-methylglutaconic aciduria type 9
References:
PB_REF:0000006
Genes:
tim50 (SPBC17A3.01c)
MONDO:0859237
-
3-methylglutaconic aciduria, type VIIA
References:
PB_REF:0000003
Genes:
aqp1 (SPAC977.17)
MONDO:0014561
-
3-methylglutaconic aciduria, type VIIB
References:
PB_REF:0000003
Genes:
aqp1 (SPAC977.17)
MONDO:0008760
-
beta-ketothiolase deficiency
References:
PB_REF:0000006
Genes:
erg10 (SPBC215.09c)
MONDO:0013661
-
combined malonic and methylmalonic acidemia
References:
PB_REF:0000006
Genes:
pcs60 (SPCC1827.03c)
MONDO:0009666
-
holocarboxylase synthetase deficiency
References:
PB_REF:0000006
Genes:
bpl1 (SPBC30D10.07c)
MONDO:0010184
-
methylmalonic aciduria and homocystinuria type cblC
References:
PB_REF:0000006
Genes:
tpx1 (SPCC576.03c)
MONDO:0015454
-
multiple carboxylase deficiency
References:
PB_REF:0000003
Genes:
bpl1 (SPBC30D10.07c)
