Term Name: cataract 1 multiple types
Synonyms: CAE1, cataract 1, multiple types, with or without microcornea, CTRCT1, CZP1, Duffy linked cataract, zonular pulverulent cataract 1
Definition: A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21.
Ontology: Human Disease [DOID:0110231]   ( DOID:0110231 )

Relationships
is a type of: autosomal dominant disease cataract