1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0110249 | cataract 11 multiple types | A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:0050739 | autosomal genetic disease | A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. |