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macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome

Disease Summary
Associated Targets (1)
Tchem

1


Explore Associated Targets
Uniprot Description A syndrome characterized by macrothrombocytopenia, lymphedema, mental retardation, developmental delay, and distinctive facial features.
Mondo Term and Equivalent IDs
MONDO:0014757:  macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
Orphanet:487796: 
UMLS:C4225222: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Parents
Tbio

4331

Tchem

803

Tdark

604

Tclin

358

Tbio

1763

Tchem

284

Tdark

193

Tclin

124

Tbio

558

Tchem

165

Tclin

114

Tdark

63

Tbio

640

Tchem

110

Tclin

48

Tdark

39

Tbio

194

Tchem

31

Tclin

23

Tdark

8

Tbio

21

Tchem

12

Tclin

9

Tdark

1

Tbio

19

Tchem

11

Tclin

8

Tdark

1

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