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 ×

Hereditary leiomyomatosis and renal cell cancer

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

ORPHA:523

Familial pancreatic carcinoma

Familial pancreatic cancer

ORPHA:1333

Familial papillary thyroid carcinoma with renal papillary neoplasia

PTC-RCC

ORPHA:97290

Hereditary breast cancer

Familial breast cancer · Familial breast carcinoma

ORPHA:227535

OBSOLETE: Familial renal cell carcinoma

ORPHA:151