Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:polycystic kidney disease 4
go back to main search page
Accession:DOID:0080212 term browser browse the term
Definition:A autosomal recessive polycystic kidney disease that has_material_basis_in mutation in the PKD4 gene. (DO)
Synonyms:exact_synonym: ARPKD;   PKD3;   PKD4;   PKHD1;   POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1;   POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE;   Polycystic Kidney and Hepatic Disease 1 (Autosomal Recessive);   infantile polycystic kidney disease, type 1;   infantile polycystic kidney disease, type I;   polycystic kidney disease 4 with or without polycystic liver disease
 broad_synonym: abnormality of the intrahepatic bile duct
 primary_id: OMIM:263200
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
polycystic kidney disease 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin JBrowse link 9 26,164,969 26,736,704 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          polycystic kidney disease 109
            autosomal recessive polycystic kidney disease 40
              polycystic kidney disease 4 1
Path 2
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          monogenic disease 5446
            autosomal genetic disease 4409
              autosomal recessive disease 2386
                autosomal recessive polycystic kidney disease 40
                  polycystic kidney disease 4 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.