OBO ID: DOID:0110861
Term Name: autosomal recessive polycystic kidney disease Search Ontology:
Synonyms:
  • Arpkd
  • Pkhd1
  • Polycystic Kidney and Hepatic Disease 1
  • Polycystic Kidney Disease, Infantile, Type I
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
  • OMIM:263200
  • ORDO:731
  • SNOMEDCT_US_2023_03_01:28770003
  • UMLS_CUI:C0085548
Ontology: Human Disease   ( DOID:0110861 )
Relationships
is a type of:
has subtype:
OTHER autosomal recessive polycystic kidney disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PKHD1 Polycystic kidney disease 4, with or without hepatic disease
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (2)
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