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"

5 matching diseasesClear search ×

UMOD-related autosomal dominant tubulointerstitial kidney disease

UMOD-related ADTKD · ADTKD-UMOD

ORPHA:88950

Fontan-associated liver disease

FALD

ORPHA:699068

IgG4-related kidney disease

ORPHA:449395

Pulmonary arterial hypertension associated with another disease

PAH · PAH associated with another disease

ORPHA:275791

REN-related autosomal dominant tubulointerstitial kidney disease

FJHN type 2 · Familial juvenile hyperuricemic nephropathy type 2

ORPHA:217330