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inborn errors of metabolism

Disease Summary
Associated Targets (2071)
Tbio

1410

Tchem

373

Tclin

191

Tdark

97


Explore Associated Targets
Mondo Description An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function.
Disease Ontology Description A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
Mondo Term and Equivalent IDs
MONDO:0019052:  inborn errors of metabolism
MESH:D008661: 
NCIT:C34816: 
Orphanet:68367: 
SCTID:86095007: 
UMLS:C0025521: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Parents
Tbio

8932

Tdark

2157

Tchem

1652

Tclin

620

Tbio

3466

Tchem

747

Tdark

732

Tclin

337

Children
Tbio

382

Tchem

119

Tclin

73

Tdark

12

Tbio

278

Tchem

61

Tdark

56

Tclin

19

Tbio

267

Tchem

82

Tclin

23

Tdark

9

Tbio

223

Tchem

48

Tclin

47

Tdark

10

Tbio

139

Tchem

28

Tclin

10

Tdark

9

Tbio

132

Tchem

24

Tdark

8

Tclin

7

Tbio

62

Tchem

10

Tclin

1

Tdark

1

Tbio

20

Tclin

3

Tchem

3

Tbio

20

Tchem

3

Tclin

1

Tdark

1

Target Novelty (Tin-x)
Too many associated targets