10 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:0050177 | monogenic disease | A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. |
| DOID:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
| DOID:0050735 | X-linked monogenic disease | A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. |
| DOID:447 | renal tubular transport disease | |
| DOID:0080012 | X-linked recessive disease | A X-linked monogenic disease that has_material_basis_in recessive inheritance. |
| DOID:0111798 | X-linked nephrolithiasis type I | A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.23. |
9 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0080012 | DOID:0111798 |
| is_a | DOID:447 | DOID:0111798 |
| is_a | DOID:7 | DOID:0111798 |
| is_a | DOID:4 | DOID:0111798 |
| is_a | DOID:0050735 | DOID:0111798 |
| is_a | DOID:18 | DOID:0111798 |
| is_a | DOID:630 | DOID:0111798 |
| is_a | DOID:0050177 | DOID:0111798 |
| is_a | DOID:557 | DOID:0111798 |
