FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Fraser syndrome ID (Ontology) DOID:0090001 (Human Disease)
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.
Also Known As "cryptophthalmos with other malformations"
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Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Fraser syndrome  4 rec.
                                  |__Fraser syndrome 1 3 rec.
                                  |__Fraser syndrome 2 1 rec.
                                  |__Fraser syndrome 3 1 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "cryptophthalmos with other malformations" EXACT
Secondary IDs
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GARD:6465
ICD10CM:Q87.0
MESH:D058497
MIM:PS219000
ORDO:2052