| Metadata | |
|---|---|
| ID | DOID:0090001 |
| Name | 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. https://www.ncbi.nlm.nih.gov/pubmed/12766769, https://www.ncbi.nlm.nih.gov/pubmed/15838507, https://www.ncbi.nlm.nih.gov/pubmed/16894541, https://www.ncbi.nlm.nih.gov/pubmed/22510445 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
cryptophthalmos with other malformations [EXACT] |
| Parent Relationships |
is_a syndrome |