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nephrotic syndrome type 16 - 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:nephrotic syndrome type 16
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Accession:DOID:0080272 term browser browse the term
Definition:A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KANK2 gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: NPHS16;   nephrotic syndrome 16
 broad_synonym: KANK2-RELATED CONDITION
 primary_id: MIM:617783

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nephrotic syndrome type 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Kank2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: KANK2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 16 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25961457 PMID:28492532 NCBI chrNW_004624828:3,039,871...3,060,329
Ensembl chrNW_004624828:3,041,991...3,062,113 		JBrowse link
G G KANK2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: KANK2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 16 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25961457 PMID:28492532 NCBI chr 6:10,095,319...10,131,985
Ensembl chr 6:10,095,246...10,131,946 		JBrowse link
G P KANK2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: KANK2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 16 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25961457 PMID:28492532 NCBI chr 2:69,896,116...69,925,194
Ensembl chr 2:69,896,120...69,924,919 		JBrowse link
G S Kank2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: KANK2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 16 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25961457 PMID:28492532 NCBI chrNW_004936659:1,320,169...1,340,137
Ensembl chrNW_004936659:1,321,980...1,337,746 		JBrowse link
G D KANK2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: KANK2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 16 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25961457 PMID:28492532 NCBI chr20:50,067,749...50,093,377
Ensembl chr20:50,067,760...50,091,320 		JBrowse link
G B KANK2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: KANK2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 16 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25961457 PMID:28492532 NCBI chr19:10,713,582...10,746,371
Ensembl chr19:11,426,149...11,457,359 		JBrowse link
G C Kank2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: KANK2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 16 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25961457 PMID:28492532 NCBI chrNW_004955495:2,168,992...2,173,581 JBrowse link
G R Kank2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: KANK2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 16 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25961457 PMID:28492532 NCBI chr 8:28,587,770...28,617,212
Ensembl chr 8:20,311,676...20,340,900 		JBrowse link
G M Kank2 KN motif and ankyrin repeat domains 2 ISO ClinVar Annotator: match by term: KANK2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 16 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25961457 PMID:28492532 NCBI chr 9:21,678,069...21,709,842
Ensembl chr 9:21,678,080...21,710,040 		JBrowse link
G H KANK2 KN motif and ankyrin repeat domains 2 IAGP ClinVar Annotator: match by term: KANK2-related condition
ClinVar Annotator: match by term: Nephrotic syndrome 16
ClinVar Annotator: match by term: KANK2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome 16		 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25961457 PMID:28492532 NCBI chr19:11,164,270...11,197,865
Ensembl chr19:11,164,270...11,197,791 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    syndrome 133013
      nephrotic syndrome 1868
        familial nephrotic syndrome 524
          nephrotic syndrome type 16 10
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      Urogenital Diseases 59340
        urinary system disease 37137
          kidney disease 23965
            proteinuria 4255
              nephrosis 3011
                nephrotic syndrome 1868
                  familial nephrotic syndrome 524
                    nephrotic syndrome type 16 10
paths to the root