Link to this page
Cell Culture Ontology
| Preferred Name | Polycystic Kidney Disease | |
| Synonyms |
PKD - Polycystic Kidney Disease polycystic kidney disease Fibrocystic Renal Disease fibrocystic renal disease PKD - polycystic kidney disease |
|
| Definitions |
A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. [ NCI ] |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0008620 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0020642 |
|
| database_cross_reference |
NANDO:2200152 DOID:0080322 NCIt:C75464 NANDO:1200367 MONDO:0020642 NCIT:C75464 MEDGEN:9639 OMIMPS:173900 UMLS:C0022680 SCTID:82525005 MESH:D007690 GARD:7419
|
|
| definition |
A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis. [ NCI ]
|
|
| gwas_trait |
true
|
|
| has_exact_synonym |
PKD - Polycystic Kidney Disease polycystic kidney disease Fibrocystic Renal Disease fibrocystic renal disease PKD - polycystic kidney disease
|
|
| IAO_0000233 | ||
| id |
EFO:0008620
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen |
|
| label |
Polycystic Kidney Disease
|
|
| notation |
EFO:0008620
|
|
| preferred label |
Polycystic Kidney Disease
|
|
| prefLabel |
Polycystic Kidney Disease
|
|
| skos_exactMatch |
http://purl.obolibrary.org/obo/EFO_0008620 http://purl.obolibrary.org/obo/NCIT_C75464 https://omim.org/phenotypicSeries/PS173900 http://purl.obolibrary.org/obo/DOID_0080322 http://identifiers.org/mesh/D007690 http://identifiers.org/snomedct/82525005 |
|
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |