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)

Ontology Browser
Term:
Autosomal Dominant Tubulointerstitial Kidney Disease 1 (DOID:9007051)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
Autosomal Dominant Tubulointerstitial Kidney Disease 1  
This disease is an adult-onset, slowly progressive renal disease characterized by elevated serum uric acid (hyperuricemia) due to low fractional excretion of uric acid, defective urinary concentrating ability, 'bland' urinary sediment, and progression to end-stage renal failure. The onset of symptoms is usually in the third or fourth decade, although earlier and later onset have been reported.
Autosomal Dominant Tubulointerstitial Kidney Disease 2  
Autosomal Dominant Tubulointerstitial Kidney Disease 4  
Autosomal Dominant Tubulointerstitial Kidney Disease 5  
Baraitser Rodeck Garner syndrome 
Brachymesomelia Renal Syndrome 
Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 
diffuse cystic renal dysplasia  
Familial Juvenile Hyperuricemic Nephropathy 3  
Gouty Arthritis  
HRPT-related hyperuricemia  
Joubert syndrome 1  
Joubert Syndrome 2  
Joubert syndrome 4  
Joubert syndrome 7  
maturity-onset diabetes of the young type 5  
Meckel Syndrome 12  
Medullary Sponge Kidney +   
Multicystic Dysplastic Kidney +   
nephronophthisis +   
non-congenital cyst of kidney 
polycystic kidney disease +   
renal-hepatic-pancreatic dysplasia +   
Senior-Loken syndrome +   
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 
Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia 
ventriculomegaly - cystic kidney disease  

Synonyms
Exact Synonyms: ADMCKD2 ;   ADTKD1 ;   Familial Gouty Nephropathy ;   Familial Juvenile Hyperuricemic Nephropathy 1 ;   GOUTY NEPHROPATHY, FAMILIAL JUVENILE ;   Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria ;   HNFJ1 ;   Hyperuricemic Nephropathy, Familial Juvenile 1 ;   Juvenile Gout ;   MCKD2
Narrow Synonyms: FAMILIAL JUVENILE GOUT
Primary IDs: MESH:C537696
Alternate IDs: MESH:C548033 ;   MESH:C563693 ;   MIM:162000
Xrefs: EFO:0008618

paths to the root