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cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Uniprot Description A syndrome characterized by cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia.
Mondo Term and Equivalent IDs
MONDO:0014609:  cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
EFO:0009031: 
GARD:0012845: 
Orphanet:444077: 
SCTID:764455002: 
UMLS:C4085597: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Parents
Tbio

4331

Tchem

803

Tdark

604

Tclin

358

Tbio

2250

Tchem

535

Tdark

340

Tclin

240

Tbio

1763

Tchem

284

Tdark

193

Tclin

124

Tbio

640

Tchem

110

Tclin

48

Tdark

39

Tbio

71

Tchem

9

Tclin

3

Tdark

2

Tbio

49

Tchem

9

Tclin

4

Tdark

2

Children
Target Novelty (Tin-x)
No novelty measurements found