| Metadata | |
|---|---|
| ID | DOID:0110122 |
| Name | Axenfeld-Rieger syndrome type 3 |
| Definition | An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. https://www.ncbi.nlm.nih.gov/pubmed/9792859 |
| Xrefs | |
| Synonyms |
anterior chamber cleavage syndrome [EXACT] anterior segment mesenchymal dysgenesis [EXACT] Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss [EXACT] RIEG3 [EXACT] Rieger syndrome type 3 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some structural_variant |