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Metadata
ID DOID:898
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://en.wikipedia.org/wiki/Ciliopathy#cite_note-davenport2008-4, https://rarediseases.info.nih.gov/diseases/10413/autosomal-dominant-polycystic-kidney-disease, https://www.genome.gov/Genetic-Disorders/Autosomal-Polycystic-Kidney-Disease
Xrefs

GARD:7419

ICD10CM:Q61.3

ICD9CM:753.12

MESH:D007690

NCI:C75464

ORDO:730

SNOMEDCT_US_2023_03_01:204955006

UMLS_CUI:C0022680

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

ADPKD [EXACT]

Congenital biliary ectasias [EXACT]

POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 [EXACT]

Parent Relationships

is_a polycystic kidney disease

is_a autosomal dominant disease

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