9 Parents
| Identifier | Name | Description |
|---|---|---|
| DOID:7 | disease of anatomical entity | A disease that manifests in a defined anatomical structure. |
| DOID:4 | disease | A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. |
| DOID:18 | urinary system disease | A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra. |
| DOID:557 | kidney disease | A urinary system disease that is located_in the kidney. |
| DOID:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
| DOID:447 | renal tubular transport disease | |
| DOID:0080578 | digenic disease | A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes. |
| DOID:0080577 | polygenic disease | A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci. |
| DOID:0112265 | iminoglycinuria | A renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that has_material_basis_in homozygous mutation in SLC36A2 on chromosome 5q33.1 combined with either heterozygous mutation in SLC6A20 gene on chromosome 3p21.31 or homozygous mutation in SLC6A19 on chromosome 5p15.33. |
8 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:447 | DOID:0112265 |
| is_a | DOID:0080578 | DOID:0112265 |
| is_a | DOID:0080577 | DOID:0112265 |
| is_a | DOID:630 | DOID:0112265 |
| is_a | DOID:557 | DOID:0112265 |
| is_a | DOID:7 | DOID:0112265 |
| is_a | DOID:18 | DOID:0112265 |
| is_a | DOID:4 | DOID:0112265 |
