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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

4419

Tchem

829

Tdark

591

Tclin

369

Tbio

2326

Tchem

554

Tdark

339

Tclin

260

Tbio

1810

Tchem

295

Tdark

181

Tclin

134

Tbio

668

Tchem

119

Tclin

54

Tdark

38

Tbio

75

Tchem

10

Tclin

5

Tdark

2

Tbio

50

Tchem

9

Tclin

4

Tdark

2

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