| Metadata | |
|---|---|
| ID | DOID:898 |
| PURL | http://purl.obolibrary.org/obo/DOID_898 Copy |
| Name | autosomal dominant polycystic kidney disease |
| Definition | 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. https://kdigo.org/wp-content/uploads/2025/01/KDIGO-2025-ADPKD-Guideline.pdf, https://rarediseases.info.nih.gov/diseases/10413/autosomal-dominant-polycystic-kidney-disease, https://en.wikipedia.org/wiki/Ciliopathy#cite_note-davenport2008-4, https://www.genome.gov/Genetic-Disorders/Autosomal-Polycystic-Kidney-Disease |
| Xrefs |
SNOMEDCT_US_2025_09_01:204955006 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
ADPKD [EXACT] Congenital biliary ectasias [EXACT] POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some Adult onset has material basis in some autosomal dominant inheritance has phenotype some Abnormal glomerular filtration rate |