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

Fraser syndrome

Disease Summary
Associated Targets (5)
Tbio

4

Tdark

1


Explore Associated Targets
Mondo Description Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.
Disease Ontology Description An autosomal recessive disease characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14.
Mondo Term and Equivalent IDs
MONDO:0009046:  Fraser syndrome
GARD:0006465: 
MESH:D058497: 
NCIT:C118436: 
OMIMPS:219000: 
Orphanet:2052: 
SCTID:204102004: 
UMLS:C0265233: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)