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polycystic kidney disease 5 - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:polycystic kidney disease 5
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Accession:DOID:0080273 term browser browse the term
Definition:A autosomal recessive polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of homozygous mutation in the DZIP1L gene on chromosome 3q22. (DO)
Synonyms:exact_synonym: DZIP1L-RELATED CONDITION;   PKD5
 primary_id: MIM:617610

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polycystic kidney disease 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Dzip1l DAZ interacting zinc finger protein 1 like ISO ClinVar Annotator: match by term: DZIP1L-related condition | ClinVar Annotator: match by term: Polycystic kidney disease 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28530676 NCBI chrNW_004624730:14,568,625...14,619,673
Ensembl chrNW_004624730:14,568,382...14,619,272 		JBrowse link
G G DZIP1L DAZ interacting zinc finger protein 1 like ISO ClinVar Annotator: match by term: DZIP1L-related condition | ClinVar Annotator: match by term: Polycystic kidney disease 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28530676 NCBI chr15:52,425,472...52,480,484
Ensembl chr15:52,428,570...52,480,887 		JBrowse link
G P DZIP1L DAZ interacting zinc finger protein 1 like ISO ClinVar Annotator: match by term: DZIP1L-related condition | ClinVar Annotator: match by term: Polycystic kidney disease 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28530676 NCBI chr13:78,861,007...78,916,633
Ensembl chr13:78,861,024...78,916,229 		JBrowse link
G S Dzip1l DAZ interacting zinc finger protein 1 like ISO ClinVar Annotator: match by term: DZIP1L-related condition | ClinVar Annotator: match by term: Polycystic kidney disease 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28530676 NCBI chrNW_004936540:437,638...469,945
Ensembl chrNW_004936540:436,161...469,951 		JBrowse link
G D DZIP1L DAZ interacting zinc finger protein 1 like ISO ClinVar Annotator: match by term: DZIP1L-related condition | ClinVar Annotator: match by term: Polycystic kidney disease 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28530676 NCBI chr23:34,285,223...34,334,957
Ensembl chr23:34,285,864...34,331,680 		JBrowse link
G B DZIP1L DAZ interacting zinc finger protein 1 like ISO ClinVar Annotator: match by term: DZIP1L-related condition | ClinVar Annotator: match by term: Polycystic kidney disease 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28530676 NCBI chr 3:135,089,250...135,143,117
Ensembl chr 3:142,541,624...142,582,817 		JBrowse link
G C Dzip1l DAZ interacting zinc finger protein 1 like ISO ClinVar Annotator: match by term: DZIP1L-related condition | ClinVar Annotator: match by term: Polycystic kidney disease 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28530676 NCBI chrNW_004955501:895,245...965,626
Ensembl chrNW_004955501:897,692...965,626 		JBrowse link
G R Dzip1l DAZ interacting zinc finger protein 1-like ISO ClinVar Annotator: match by term: DZIP1L-related condition | ClinVar Annotator: match by term: Polycystic kidney disease 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28530676 NCBI chr 8:100,188,414...100,229,077
Ensembl chr 8:100,194,999...100,228,988 		JBrowse link
G M Dzip1l DAZ interacting protein 1-like ISO ClinVar Annotator: match by term: DZIP1L-related condition | ClinVar Annotator: match by term: Polycystic kidney disease 5 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28530676 NCBI chr 9:99,511,448...99,552,128
Ensembl chr 9:99,511,549...99,551,309 		JBrowse link
G H DZIP1L DAZ interacting zinc finger protein 1 like IAGP ClinVar Annotator: match by term: DZIP1L-related condition
ClinVar Annotator: match by term: Polycystic kidney disease 5
ClinVar Annotator: match by term: DZIP1L-related condition | ClinVar Annotator: match by term: Polycystic kidney disease 5		 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28530676 NCBI chr 3:138,061,990...138,115,608
Ensembl chr 3:138,061,990...138,115,818 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        Congenital Abnormalities 85100
          Multiple Abnormalities 39530
            polycystic kidney disease 1477
              autosomal recessive polycystic kidney disease 345
                polycystic kidney disease 5 10
Path 2
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          monogenic disease 118451
            autosomal genetic disease 112806
              autosomal recessive disease 73856
                autosomal recessive polycystic kidney disease 345
                  polycystic kidney disease 5 10
paths to the root