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