Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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 9
go back to main search page
Accession:DOID:0111120 term browser browse the term
Definition:A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11. (DO)
Synonyms:exact_synonym: NPHP9
 primary_id: MIM:613824


show annotations for term's descendants           Sort by:
nephronophthisis 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek8 NIMA-related kinase 8 ISO
IAGP 		compared to control Lewis
ClinVar Annotator: match by term: Nephronophthisis 9 		OMIM
ClinVar
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18199800 PMID:22106379 More... RGD:40924667 NCBI chr10:63,060,868...63,073,546
Ensembl chr10:63,061,253...63,072,416 		JBrowse link
G Nek8lpkArc NIMA-related kinase 8; lpk mutant, Arc IAGP compared to control Lewis RGD PMID:22899815 RGD:40924667
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      Urogenital Diseases 5402
        urinary system disease 2835
          kidney disease 2581
            cystic kidney disease 522
              nephronophthisis 118
                nephronophthisis 9 3
Path 2
Term Annotations click to browse term
  disease 19145
    Developmental Disease 14671
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10965
            autosomal genetic disease 10454
              autosomal recessive disease 7132
                nephronophthisis 118
                  nephronophthisis 9 3
paths to the root