13 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:576 | proteinuria | A kidney disease that is characterized by the presence of excess proteins in the urine. |
| DOID:2590 | familial nephrotic syndrome | A nephrotic syndrome that has_material_basis_in genetic mutations. |
| DOID:2527 | nephrosis | A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation. |
| DOID:1184 | nephrotic syndrome | A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability. |
| DOID:0112266 | nephrotic syndrome type 23 | A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in the KIRREL1 gene on chromosome 1q23.1. |
12 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:2590 | DOID:0112266 |
| is_a | DOID:0050737 | DOID:0112266 |
| is_a | DOID:0050177 | DOID:0112266 |
| is_a | DOID:630 | DOID:0112266 |
| is_a | DOID:576 | DOID:0112266 |
| is_a | DOID:0050739 | DOID:0112266 |
| is_a | DOID:557 | DOID:0112266 |
| is_a | DOID:1184 | DOID:0112266 |
| is_a | DOID:7 | DOID:0112266 |
| is_a | DOID:4 | DOID:0112266 |
| is_a | DOID:18 | DOID:0112266 |
| is_a | DOID:2527 | DOID:0112266 |
