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cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

Disease Summary
Associated Targets (1)
Tchem

1


Explore Associated Targets
Uniprot Description An autosomal recessive disorder characterized by cataracts, short-stature secondary to growth hormone deficiency, sensorineural hearing deficit, peripheral sensory neuropathy, skeletal dysplasia, scoliosis, and facial dysmorphism.
Mondo Term and Equivalent IDs
MONDO:0014455:  cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Orphanet:436174: 
UMLS:C4014942: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Parents
Tbio

1181

Tchem

268

Tclin

140

Tdark

71

Tbio

391

Tchem

89

Tclin

61

Tdark

18

Tbio

335

Tchem

71

Tclin

66

Tdark

9

Tbio

213

Tclin

41

Tchem

33

Tdark

6

Tbio

162

Tchem

37

Tclin

22

Tdark

7

Tbio

112

Tchem

16

Tdark

3

Tclin

1

Tbio

30

Tchem

9

Tclin

5

Tdark

2

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