Terminology Service for NFDI4Health

autosomal recessive polycystic kidney disease

Go to external page http://purl.obolibrary.org/obo/DOID_0110861


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. [ http://purl.obolibrary.org/obo/ECO_0007637 ]

Term info

Label

autosomal recessive polycystic kidney disease

Synonyms
  • Arpkd
  • Pkhd1
  • Polycystic Kidney Disease, Infantile, Type I
  • Polycystic Kidney and Hepatic Disease 1
database cross reference
Subsets

NCIthesaurus

has obo namespace

disease_ontology

id

DOID:0110861