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"

15 matching diseasesClear search ×

American trypanosomiasis

Chagas disease

ORPHA:3386

Autosomal dominant tubulointerstitial kidney disease

Familial juvenile hyperuricemic nephropathy · ADTKD

ORPHA:34149

Caffey disease

Infantile cortical hyperostosis

ORPHA:1310

Chronic beryllium disease

Chronic beryllium lung disease · Berylliosis

ORPHA:133

Chronic graft versus host disease

ORPHA:99921

Chronic granulomatous disease

CGD · Chronic septic granulomatosis

ORPHA:379

Cold agglutinin disease

CAD · CAS

ORPHA:56425

Gaucher disease type 3

Cerebral juvenile and adult form of Gaucher disease · Chronic neuronopathic Gaucher disease

ORPHA:77261

Hemophilia B

Congenital F9 deficiency · Christmas disease

ORPHA:98879

IgG4-related kidney disease

ORPHA:449395

Kimura disease

Eosinophilic lymphogranuloma

ORPHA:482

MUC1-related autosomal dominant tubulointerstitial kidney disease

MUC1-related medullary cystic kidney disease · MUCI-related ADTKD

ORPHA:88949

REN-related autosomal dominant tubulointerstitial kidney disease

FJHN type 2 · Familial juvenile hyperuricemic nephropathy type 2

ORPHA:217330

UMOD-related autosomal dominant tubulointerstitial kidney disease

UMOD-related ADTKD · ADTKD-UMOD

ORPHA:88950

Ventriculomegaly-cystic kidney disease

Congenital nephrosis-cerebral ventriculomegaly syndrome · VMCKD

ORPHA:443988