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MIRAGE
Fraser syndrome
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0090001
- Mondo Disease Ontology
- MeSH
- ORDO
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q1XGY5 | Fras1 related extracellular matrix protein 2 | |
| Q684R7 | FRAS1-related extracellular matrix protein 1 | |
| Q80T14 | Extracellular matrix organizing protein FRAS1 | |
| Q925T6 | Glutamate receptor-interacting protein 1 |
