1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0080757 | Fanconi renotubular syndrome 1 | A Fanconi syndrome that has_material_basis_in heterozygous mutation in the GATM gene on chromosome 15q21. |
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. |