ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive polycystic kidney disease
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Accession:DOID:0110861 term browser browse the term
Definition:A genetic disorder with autosomal recessive inheritance, characterized by multiple CYSTS in both KIDNEYS and associated LIVER lesions. Serious manifestations are usually present at BIRTH with high PERINATAL MORTALITY.
Synonyms:exact_synonym: ARPKD;   PKHD1;   POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE;   Polycystic Kidney Disease, Infantile, Type 1;   Polycystic Kidney and Hepatic Disease 1;   Polycystic Kidney and Hepatic Disease 1 (Autosomal Recessive);   autosomal recessive polycystic kidney;   infantile polycystic kidney disease type I
 narrow_synonym: HEPATIC FIBROSIS, CONGENITAL
 primary_id: MESH:D017044
 alt_id: RDO:0001865
 xref: GARD:8378;   ORDO:731
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive polycystic kidney disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:2325220
RGD:12879406
G Akt1 AKT serine/threonine kinase 1 JBrowse link 6 137,218,398 137,239,970 RGD:10040950
G Aqp1 aquaporin 1 (Colton blood group) JBrowse link 4 85,551,503 85,563,683 RGD:2307071
RGD:11554173
G Arl3 ADP ribosylation factor like GTPase 3 JBrowse link 1 266,287,015 266,333,099 RGD:13592920
G Bicc1 BicC family RNA binding protein 1 JBrowse link 20 18,780,605 18,940,429 RGD:13592920
G C3 complement C3 JBrowse link 9 9,721,137 9,747,084 RGD:7175542
G Cd14 CD14 molecule JBrowse link 18 29,560,341 29,562,290 RGD:7204130
G Cftr cystic fibrosis transmembrane conductance regulator JBrowse link 4 42,693,263 42,860,679 RGD:2307071
RGD:11554173
G Cyp4a1 cytochrome P450, family 4, subfamily a, polypeptide 1 JBrowse link 5 134,492,734 134,507,158 RGD:2303380
G Cyp4a2 cytochrome P450, family 4, subfamily a, polypeptide 2 JBrowse link 5 134,196,910 134,207,888 RGD:2303380
G Cyp4a3 cytochrome P450, family 4, subfamily a, polypeptide 3 JBrowse link 5 134,468,666 134,484,851 RGD:2303380
G Cyp4a8 cytochrome P450, family 4, subfamily a, polypeptide 8 JBrowse link 5 133,978,953 134,008,255 RGD:2303380
G Cys1 cystin 1 JBrowse link 6 43,844,937 43,862,131 RGD:7175541
RGD:13592920
G Dzip1l DAZ interacting zinc finger protein 1-like JBrowse link 8 107,875,659 107,916,298 RGD:11554173
G Egfr epidermal growth factor receptor JBrowse link 14 99,919,485 100,104,136 RGD:11554173
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:7207865
G Ift88 intraflagellar transport 88 JBrowse link 15 37,690,417 37,786,855 RGD:11554173
G Mtor mechanistic target of rapamycin kinase JBrowse link 5 165,263,813 165,373,967 RGD:10040950
G Myc MYC proto-oncogene, bHLH transcription factor JBrowse link 7 102,586,313 102,591,240 RGD:7207453
G Nek1 NIMA-related kinase 1 JBrowse link 16 32,321,010 32,439,421 RGD:13592920
G Nek8 NIMA-related kinase 8 JBrowse link 10 65,404,489 65,439,059 RGD:13592920
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:11554173
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha JBrowse link 2 118,831,350 118,861,456 RGD:10040950
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:8554872
RGD:13592920
G Pkd2 polycystin 2, transient receptor potential cation channel JBrowse link 14 6,602,004 6,645,257 RGD:8554872
G Pkhd1 PKHD1, fibrocystin/polyductin JBrowse link 9 26,164,969 26,736,704 RGD:70439
RGD:8554872
RGD:11554173
RGD:1642441
G Pkhd1pck polycystic kidney and hepatic disease 1,polycystic kidney disease RGD:70439
G Sclt1 sodium channel and clathrin linker 1 JBrowse link 2 128,523,376 128,675,668 RGD:13592920
G Slc4a2 solute carrier family 4 member 2 JBrowse link 4 7,264,677 7,282,355 RGD:2307071
RGD:11554173
G Src SRC proto-oncogene, non-receptor tyrosine kinase JBrowse link 3 153,547,807 153,595,643 RGD:11554173
G Tsc1 TSC complex subunit 1 JBrowse link 3 7,219,955 7,269,063 RGD:13592920
Gillessen-Kaesbach-Nishimura Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg9 ALG9, alpha-1,2-mannosyltransferase JBrowse link 8 55,202,140 55,265,478 RGD:8554872
RGD:7240710
polycystic kidney disease 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dzip1l DAZ interacting zinc finger protein 1-like JBrowse link 8 107,875,659 107,916,298 RGD:8554872
RGD:7240710
Renal Dysplasia Diffuse Cystic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bicc1 BicC family RNA binding protein 1 JBrowse link 20 18,780,605 18,940,429 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          polycystic kidney disease 96
            autosomal recessive polycystic kidney disease 33
              Gillessen-Kaesbach-Nishimura Dysplasia 1
              Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis 0
              Renal Dysplasia Diffuse Cystic 1
              polycystic kidney disease 5 1
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal recessive disease 1249
                autosomal recessive polycystic kidney disease 33
                  Gillessen-Kaesbach-Nishimura Dysplasia 1
                  Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis 0
                  Renal Dysplasia Diffuse Cystic 1
                  polycystic kidney disease 5 1
paths to the root

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