Rare Disease Library

REN-related autosomal dominant tubulointerstitial kidney disease

FJHN type 2 · Familial juvenile hyperuricemic nephropathy type 2

Acquired cystic disease-associated renal cell carcinoma

Kidney cancer · RCC

Combined immunodeficiency due to RELA haploinsufficiency

RELA-associated inflammatory disease · CID due to RELA haploinsufficiency

Fontan-associated liver disease

FALD

IgG4-related kidney disease

MUC1-related autosomal dominant tubulointerstitial kidney disease

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

NLRP3-associated autoinflammatory disease

CAPS · Cryopyrinopathy

Pulmonary arterial hypertension associated with another disease

PAH · PAH associated with another disease

UMOD-related autosomal dominant tubulointerstitial kidney disease

UMOD-related ADTKD · ADTKD-UMOD