Term Name: aniridia 1
Synonyms:
Definition: An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common.
Ontology: Human Disease [DOID:0070532]   ( DOID:0070532 )

Relationships
is a type of: aniridia autosomal dominant disease