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Metadata
DOID DOID:0110861
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

GARD:8378

ICD10CM:Q61.1

ICD9CM:753.14

MESH:D017044

NCI:C84579

OMIM:263200

ORDO:731

SNOMEDCT_US_2018_03_01:28770003

UMLS_CUI:C0085548

Subsets

NCIthesaurus

Synonyms

Arpkd [EXACT]

Pkhd1 [EXACT]

Polycystic Kidney and Hepatic Disease 1 [EXACT]

Polycystic Kidney Disease, Infantile, Type I [EXACT]

Relationships

is_a polycystic kidney disease

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