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congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Uniprot Description An autosomal recessive syndrome characterized by eye, brain, cardiac and palatal abnormalities as well as growth retardation, microcephaly and severe intellectual disability.
Mondo Term and Equivalent IDs
MONDO:0014643:  congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
Orphanet:464738: 
UMLS:C4225323: 
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

640

Tchem

110

Tclin

48

Tdark

39

Tbio

109

Tchem

16

Tdark

4

Tclin

1

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