autosomal recessive polycystic kidney disease

Term ID

DOID:0110861

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 )