1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0080548 | Noonan syndrome with multiple lentigines 1 | A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24. |
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. |