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Disease Ontology Browser
Fraser syndrome (DOID:0090001)
Alliance: disease page
Synonyms: cryptophthalmos with other malformations
Alt IDs: ICD10CM:Q87.0, MESH:D058497, OMIM:PS219000, ORDO:2052
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.

Disease References using Mouse Models (12)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory