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cerebral organic aciduria

Disease Summary
Associated Targets (89)
Tbio

65

Tchem

14

Tclin

8

Tdark

2


Explore Associated Targets
Mondo Description A inherited organic acidemia that involves the brain.
Mondo Term and Equivalent IDs
MONDO:0019213:  cerebral organic aciduria
Orphanet:79158: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Parents
brain disease (12480)
Tbio

8410

Tdark

2009

Tchem

1495

Tclin

566

genetic nervous system disorder (6096)
Tbio

4331

Tchem

803

Tdark

604

Tclin

358

inherited organic acidemia (239)
Tbio

180

Tchem

40

Tclin

14

Tdark

5

Children
pyruvate dehydrogenase deficiency (9)
Tbio

8

Tdark

1

fatal multiple mitochondrial dysfunctions syndrome (7)
Tbio

7

encephalopathy due to sulfite oxidase deficiency (6)
Tbio

5

Tclin

1

classic homocystinuria (4)
Tbio

2

Tchem

1

Tdark

1

phenylketonuria (4)
Tbio

2

Tclin

1

Tchem

1

glycine encephalopathy (4)
Tbio

3

Tchem

1

2-hydroxyglutaric aciduria (4)
Tbio

3

Tclin

1

neurometabolic disorder due to serine deficiency (4)
Tbio

3

Tchem

1

cerebral creatine deficiency syndrome (3)
Tbio

3

hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (3)
Tbio

2

Tchem

1

Hartnup disease (2)
Tchem

1

Tbio

1

hyperprolinemia type 1 (2)
Tbio

2

TH-deficient dopa-responsive dystonia (2)
Tclin

1

Tbio

1

inborn aminoacylase deficiency (2)
Tbio

2

homocystinuria without methylmalonic aciduria (2)
Tbio

2

adenylosuccinate lyase deficiency (1)
Tbio

1

dystonia 5 (1)
Tbio

1

cerebrotendinous xanthomatosis (1)
Tchem

1

Griscelli syndrome type 1 (1)
Tbio

1

congenital bile acid synthesis defect 4 (1)
Tbio

1

hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency (1)
Tbio

1

glutaryl-CoA dehydrogenase deficiency (1)
Tbio

1

encephalopathy due to hydroxykynureninuria (1)
Tchem

1

hyperprolinemia type 2 (1)
Tbio

1

3-hydroxyisobutyryl-CoA hydrolase deficiency (1)
Tbio

1

methionine adenosyltransferase deficiency (1)
Tbio

1

biotinidase deficiency (1)
Tbio

1

holocarboxylase synthetase deficiency (1)
Tchem

1

succinic semialdehyde dehydrogenase deficiency (1)
Tclin

1

urocanic aciduria (1)
Tbio

1

HSD10 mitochondrial disease (1)
Tchem

1

Brunner syndrome (1)
Tclin

1

glycogen storage disease due to phosphoglycerate kinase 1 deficiency (1)
Tchem

1

methylmalonic acidemia with homocystinuria, type cblX (1)
Tbio

1

ornithine carbamoyltransferase deficiency (1)
Tchem

1

2-methylbutyryl-CoA dehydrogenase deficiency (1)
Tbio

1

dopa-responsive dystonia due to sepiapterin reductase deficiency (1)
Tchem

1

GABA aminotransferase deficiency (1)
Tclin

1

constitutional megaloblastic anemia with severe neurologic disease (1)
Tclin

1

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (1)
Tbio

1

mitochondrial pyruvate carrier deficiency (1)
Tbio

1

branched-chain keto acid dehydrogenase kinase deficiency (1)
Tbio

1

triosephosphate isomerase deficiency (1)
Tbio

1

3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia (1)
Tbio

1

congenital bile acid synthesis defect 5 (1)
Tbio

1

autosomal recessive complex spastic paraplegia type 9B (1)
Tbio

1

dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (1)
Tbio

1

autosomal recessive cutis laxa type 2A (1)
Tbio

1

3-methylglutaconic aciduria type 8 (1)
Tbio

1

3-methylglutaconic aciduria type 9 (1)
Tbio

1

adenosine kinase deficiency (1)
Tchem

1

global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (0)
Target Novelty (Tin-x)
No novelty measurements found