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: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:0050737 | autosomal recessive disease | An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |
| DOID:12712 | nephronophthisis | A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). |
| DOID:0111117 | nephronophthisis-like nephropathy 1 | A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2. |
9 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:12712 | DOID:0111117 |
| is_a | DOID:7 | DOID:0111117 |
| is_a | DOID:0050737 | DOID:0111117 |
| is_a | DOID:18 | DOID:0111117 |
| is_a | DOID:4 | DOID:0111117 |
| is_a | DOID:630 | DOID:0111117 |
| is_a | DOID:0050739 | DOID:0111117 |
| is_a | DOID:557 | DOID:0111117 |
| is_a | DOID:0050177 | DOID:0111117 |
