Search Ontology:
Human Disease

autosomal recessive polycystic kidney disease

Term ID
DOID:0110861
Synonyms
  • AR-PKD
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
References
  • GARD:8378
  • ICD10CM:Q61.1
  • ICD9CM:753.14
  • MESH:D017044
  • NCI:C84579
  • ORDO:731
  • SNOMEDCT_US_2023_03_01:28770003
  • UMLS_CUI:C0085548
Ontology
Human Disease   ( DOID:0110861 )
Relationships
is a type of
has subtype
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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