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"

6 matching diseasesClear search ×

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

ORPHA:523

Hereditary amyloidosis with primary renal involvement

Amyloidosis, Ostertag type · Familial amyloid nephropathy

ORPHA:85450

Hereditary breast cancer

Familial breast cancer · Familial breast carcinoma

ORPHA:227535

Hereditary clear cell renal cell carcinoma

Hereditary clear cell renal cell adenocarcinoma · Kidney cancer

ORPHA:422526

Hereditary cryohydrocytosis with reduced stomatin

CHC type 2 · Hereditary cryohydrocytosis type 2

ORPHA:168577

Hereditary papillary renal cell carcinoma

HPRC · Kidney cancer

ORPHA:47044