Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

9 matching diseasesClear search ×

UMOD-related autosomal dominant tubulointerstitial kidney disease

UMOD-related ADTKD · ADTKD-UMOD

ORPHA:88950

Autosomal dominant tubulointerstitial kidney disease

Familial juvenile hyperuricemic nephropathy · ADTKD

ORPHA:34149

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

ORPHA:3197

IgG4-related kidney disease

ORPHA:449395

Kienbock disease

Aseptic necrosis of the lunate bone · Lunatomalacia

ORPHA:97332

Kikuchi-Fujimoto disease

Histiocytic necrotizing lymphadenitis · Kikuchi disease

ORPHA:50918

Kimura disease

Eosinophilic lymphogranuloma

ORPHA:482

Osteochondritis dissecans

König disease

ORPHA:2764

REN-related autosomal dominant tubulointerstitial kidney disease

FJHN type 2 · Familial juvenile hyperuricemic nephropathy type 2

ORPHA:217330