OBO ID: DOID:0090001
Term Name: Fraser syndrome Search Ontology:
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:
Ontology: Human Disease   (DOID:0090001)
OTHER Fraser syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)