FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal dominant tubulointerstitial kidney disease ID (Ontology) DOID:0060062 (Human 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.
Also Known As "familial juvenile hyperuricemic nephropathy" ; "HNFJ" ; "MCKD" (for all, see Synonyms field below)
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DO.org
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autosomal genetic disease
 |__autosomal dominant disease__
urinary system disease          |
 |__kidney disease______________|
                                autosomal dominant tubulointerstitial kidney disease  3 rec.
                                 |__autosomal dominant tubulointerstitial kidney disease 1
                                 |__autosomal dominant tubulointerstitial kidney disease 2 1 rec.
                                 |__autosomal dominant tubulointerstitial kidney disease 4 1 rec.
                                 |__autosomal dominant tubulointerstitial kidney disease 5 1 rec.
                                 |__autosomal dominant tubulointerstitial kidney disease 6
                                 |__renal cysts and diabetes syndrome
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Is a autosomal dominant disease
kidney disease
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Synonyms
  • "familial juvenile hyperuricemic nephropathy" EXACT
    "HNFJ" EXACT OMO:0003012
    "MCKD" EXACT OMO:0003012
    "medullary cystic kidney disease" EXACT
Secondary IDs
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MIM:PS162000
ORDO:34149