You are using an outdated browser. Please upgrade your browser to improve your experience.

Cohen syndrome

Disease Summary
Associated Targets (4)
Tbio

3

Tdark

1


Explore Associated Targets
Mondo Description Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.
Uniprot Description A rare autosomal recessive disorder characterized by obesity, hypotonia, intellectual deficit, characteristic craniofacial dysmorphism and abnormalities of the hands and feet. Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair and low hairline.
Mondo Term and Equivalent IDs
MONDO:0008999:  Cohen syndrome
DOID:0111590: 
GARD:0006126: 
MESH:C536438: 
Orphanet:193: 
SCTID:56604005: 
UMLS:C1854061: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Parents
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

76

Tchem

8

Tdark

3

Tclin

2

Tbio

34

Tclin

7

Tchem

5

Tdark

3

Tbio

20

Tclin

3

Tchem

2

Tdark

1

Children
Target Novelty (Tin-x)