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Mondo Disease Ontology
| Preferred Name | polycystic kidney disease | |
| Synonyms |
PKD - polycystic kidney disease polycystic kidney disease fibrocystic renal disease |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0020642 |
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| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0020642 |
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| database_cross_reference |
NANDO:2200152 DOID:0080322 EFO:0008620 MESH:D007690 MEDGEN:9639 NANDO:1200367 UMLS:C0022680 GARD:7419 SCTID:82525005 OMIMPS:173900 NCIT:C75464
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|
| 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.
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| has_exact_synonym |
PKD - polycystic kidney disease polycystic kidney disease fibrocystic renal disease
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| IAO_0000233 | ||
| id |
MONDO:0020642
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen |
|
| label |
polycystic kidney disease
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|
| notation |
MONDO:0020642
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| prefLabel |
polycystic kidney disease
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| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
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| 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 |
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