1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0111392 | mucopolysaccharidosis type IVB | A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in the GLB1 gene on chromosome 3p22.3. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:0014667 | disease of metabolism | A disease that involving errors in metabolic processes of building or degradation of molecules. |