autosomal dominant tubulointerstitial kidney disease

Term ID

DOID:0060062

Synonyms

familial juvenile hyperuricemic nephropathy
HNFJ
MCKD
medullary cystic kidney disease

Definition

A kidney disease that is characterized by normal urinalysis and slowly progressive chronic kidney disease, usually first noted in the teen years and progressing to end-stage renal disease between the third and seventh decades. https://www.ncbi.nlm.nih.gov/books/NBK1356/

References

MIM:PS162000
ORDO:34149

Ontology

Human Disease ( DOID:0060062 )

Relationships

is a type of: autosomal dominant disease kidney disease

autosomal dominant disease kidney disease Show first 5 Terms
has subtype: autosomal dominant tubulointerstitial kidney disease 1 autosomal dominant tubulointerstitial kidney disease 2 autosomal dominant tubulointerstitial kidney disease 4 autosomal dominant tubulointerstitial kidney disease 5 autosomal dominant tubulointerstitial kidney disease 6 ... Show All 6 Terms

autosomal dominant tubulointerstitial kidney disease 1 autosomal dominant tubulointerstitial kidney disease 2 autosomal dominant tubulointerstitial kidney disease 4 autosomal dominant tubulointerstitial kidney disease 5 autosomal dominant tubulointerstitial kidney disease 6 renal cysts and diabetes syndrome Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models