| Metadata | |
|---|---|
| ID | DOID:0110861 |
| PURL | http://purl.obolibrary.org/obo/DOID_0110861 Copy |
| Name | autosomal recessive 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 recessive fashion. https://rarediseases.info.nih.gov/diseases/8378/autosomal-recessive-polycystic-kidney-disease |
| Xrefs |
SNOMEDCT_US_2025_09_01:28770003 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
AR-PKD [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some Infantile onset existence starts during some Childhood onset has material basis in some autosomal recessive inheritance |