Fraser syndrome

Term ID

DOID:0090001

Synonyms

cryptophthalmos with other malformations

Definition

A syndrome 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. (4)

References

GARD:6465
ICD10CM:Q87.0
MESH:D058497
OMIM:PS219000
ORDO:2052

Ontology

Human Disease ( DOID:0090001 )

Relationships

is a type of: autosomal recessive disease syndrome

autosomal recessive disease syndrome Show first 5 Terms
has subtype: Fraser syndrome 1 Fraser syndrome 2 Fraser syndrome 3

Fraser syndrome 1 Fraser syndrome 2 Fraser syndrome 3 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations