1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0111670 | primary hyperoxaluria type 1 | A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3. |