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"

12 matching diseasesClear search ×

Hereditary breast cancer

Familial breast cancer · Familial breast carcinoma

ORPHA:227535

Benign hereditary chorea

BHC · Benign familial chorea

ORPHA:1429

Familial bicuspid aortic valve

Familial BAV

ORPHA:402075

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

ORPHA:1416

Familial cavitary optic disc anomaly

Familial CODA

ORPHA:464760

Familial colorectal cancer Type X

FCCTX

ORPHA:440437

Familial pancreatic carcinoma

Familial pancreatic cancer

ORPHA:1333

Familial prostate cancer

ORPHA:1331

Hereditary diffuse gastric cancer

FDGC · Familial diffuse cancer of stomach

ORPHA:26106

Hereditary nonpolyposis colon cancer

Familial nonpolyposis colon cancer · Familial nonpolyposis colorectal cancer

ORPHA:443909

OBSOLETE: Familial ovarian cancer

OBSOLETE: Familial ovarian malignant tumor

ORPHA:213517

Rare malignant breast tumor

Rare breast cancer

ORPHA:180257