12 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:0050736 | autosomal dominant disease | An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. |
| 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. |
| DOID:898 | autosomal dominant polycystic kidney disease | A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion. |
| DOID:2975 | cystic kidney disease | |
| DOID:0080322 | polycystic kidney disease | A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure. |
| DOID:0110858 | polycystic kidney disease 1 | A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:898 | DOID:0110858 |
| is_a | DOID:630 | DOID:0110858 |
| is_a | DOID:0050177 | DOID:0110858 |
| is_a | DOID:4 | DOID:0110858 |
| is_a | DOID:2975 | DOID:0110858 |
| is_a | DOID:0050736 | DOID:0110858 |
| is_a | DOID:18 | DOID:0110858 |
| is_a | DOID:0080322 | DOID:0110858 |
| is_a | DOID:557 | DOID:0110858 |
| is_a | DOID:0050739 | DOID:0110858 |
| is_a | DOID:7 | DOID:0110858 |
