| Metadata | |
|---|---|
| ID | DOID:0110122 |
| PURL | http://purl.obolibrary.org/obo/DOID_0110122 Copy |
| Name | Axenfeld-Rieger syndrome type 3 |
| Definition | An Axenfeld-Rieger characterized by an anteriorly displaced Schwalbe line, the presence of another ocular anomaly (hypoplasia of iris stroma, corectopia, or iridocorneal adhesions), and nonocular anomalies including maxillary hypoplasia, hypodontia, microdontia, protuberant periumbilical skin, sensorineural hearing loss, and congenital cardiac or renal anomalies 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 |
has material basis in some autosomal dominant inheritance disease has basis in some structural_variant |