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nephronophthisis 3 - 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:nephronophthisis 3
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Accession:DOID:0111114 term browser browse the term
Definition:A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22. (DO)
Synonyms:exact_synonym: NPH3;   NPHP3;   adolescent nephronophthisis
 primary_id: MESH:C565780
 alt_id: MIM:604387

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nephronophthisis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LOC129937586 ATAC-STARR-seq lymphoblastoid silent region 14743 IAGP ClinVar Annotator: match by term: Nephronophthisis 3
ClinVar Annotator: match by term: Adolescent nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 3		 ClinVar PMID:17855640 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:132,722,066...132,722,315 JBrowse link
G N Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Adolescent nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 3 OMIM
ClinVar		 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 More... NCBI chrNW_004624730:8,824,370...8,874,614
Ensembl chrNW_004624730:8,816,643...8,874,649 		JBrowse link
G G NPHP3 nephrocystin 3 ISO ClinVar Annotator: match by term: Adolescent nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 3 OMIM
ClinVar		 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 More... NCBI chr15:57,550,878...57,629,106
Ensembl chr15:57,551,189...57,592,661 		JBrowse link
G P NPHP3 nephrocystin 3 ISO ClinVar Annotator: match by term: Adolescent nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 3 OMIM
ClinVar		 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 More... NCBI chr13:73,843,770...73,901,020
Ensembl chr13:73,858,427...73,900,967 		JBrowse link
G S Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Adolescent nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 3 OMIM
ClinVar		 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 More... NCBI chrNW_004936529:6,013,321...6,048,249
Ensembl chrNW_004936529:6,009,301...6,049,447 		JBrowse link
G D NPHP3 nephrocystin 3 ISO ClinVar Annotator: match by term: Adolescent nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 3 OMIM
ClinVar		 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 More... NCBI chr23:29,662,486...29,703,629
Ensembl chr23:29,645,641...29,703,805 		JBrowse link
G B NPHP3 nephrocystin 3 ISO ClinVar Annotator: match by term: Adolescent nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 3 OMIM
ClinVar		 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 More... NCBI chr 3:129,753,399...129,795,300 JBrowse link
G C Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Adolescent nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 3 OMIM
ClinVar		 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 More... NCBI chrNW_004955501:5,799,879...5,837,022
Ensembl chrNW_004955501:5,799,879...5,837,022 		JBrowse link
G R Nphp3 nephrocystin 3 ISO
ISS		 ClinVar Annotator: match by term: Adolescent nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 3
OMIM:604387
CTD Direct Evidence: marker/mechanism
DNA:mutations:exon, intron:multiple		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 More... RGD:11071511 NCBI chr 8:113,500,708...113,541,179
Ensembl chr 8:104,621,864...104,662,383 		JBrowse link
G M Nphp3 nephronophthisis 3 (adolescent) ISO
IAGP		 ClinVar Annotator: match by term: Adolescent nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 3
CTD Direct Evidence: marker/mechanism
OMIM:604387
DNA:mutations:exon, intron:multiple		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 More... RGD:11071511 NCBI chr 9:103,879,743...103,921,010
Ensembl chr 9:103,879,743...103,921,017 		JBrowse link
G H NPHP3 nephrocystin 3 IAGP
ISS
EXP		 DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by term: Adolescent nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 3
OMIM:604387
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 More... RGD:11071511 NCBI chr 3:132,680,609...132,722,409
Ensembl chr 3:132,680,609...132,722,432 		JBrowse link
G H NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Nephronophthisis 3
ClinVar Annotator: match by term: Adolescent nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 3		 ClinVar PMID:9536098 PMID:12872122 PMID:16199547 PMID:17576681 PMID:17855640 More... NCBI chr 3:132,558,138...132,722,459
Ensembl chr 3:132,558,142...132,722,459 		JBrowse link
G H NPHP3-AS1 NPHP3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Nephronophthisis 3
ClinVar Annotator: match by term: Adolescent nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 3		 ClinVar PMID:17855640 PMID:24033266 PMID:25741868 PMID:28492532 PMID:33532864 NCBI chr 3:132,721,750...132,874,211
Ensembl chr 3:132,721,750...132,895,230 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 287666
    disease of anatomical entity 271341
      Urogenital Diseases 59302
        urinary system disease 37185
          kidney disease 24011
            cystic kidney disease 5140
              nephronophthisis 1199
                nephronophthisis 3 13
Path 2
Term Annotations click to browse term
  disease 287666
    Developmental Disease 170543
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156344
        genetic disease 151460
          monogenic disease 118073
            autosomal genetic disease 112418
              autosomal recessive disease 73762
                nephronophthisis 1199
                  nephronophthisis 3 13
paths to the root