| Metadata | |
|---|---|
| ID | DOID:0070532 |
| Name | aniridia 1 |
| Definition | An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common. https://eyewiki.org/Aniridia, https://pubmed.ncbi.nlm.nih.gov/12721955/ |
| Xrefs | |
| SKOS |
exactMatch MIM:106210 |
| Parent Relationships |
is_a autosomal dominant disease is_a aniridia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |