Version: 8.0.0
Date: Tue Jan 28 2025
Fraser syndrome
DOID:0090001
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Fraser syndrome

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.
Synonyms
  • cryptophthalmos with other malformations
Cross References
Parent Terms
Child Terms
Sources of Associations

Associated Genes

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    Associated Alleles

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      Associated Models

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