Aniridia 1
Disease ID: disease_node_17297
Connections displayed (default: 10).
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| Dbxref | MIM:106210 |
|---|---|
| Subclassof | DOID_0050736, DOID_12271 |
| Data Source | DOID |
| Doid Label | aniridia 1 |
| Doid Description | An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common. PAX6 gene variation may result in a number of different eye diseases, including foveal hypoplasia 1, that are primarily distinguished by phenotype. These phenotypes may correspond to different variants but there is not definitive evidence at this time to clearly define them all [JAB, 2024-01-23]. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17297 |
| Doid Id | DOID_0070532 |
| Label | Aniridia 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Aniridia(ID:disease_node_8432) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)