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"

11 matching diseasesClear search ×

Hereditary breast cancer

Familial breast cancer · Familial breast carcinoma

ORPHA:227535

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

ORPHA:1416

Familial cerebral cavernous malformation

Familial brain cavernous angioma · Familial cerebral cavernoma

ORPHA:221061

Familial melanoma

ORPHA:618

Familial nonmedullary thyroid carcinoma

ORPHA:319494

Familial pancreatic carcinoma

Familial pancreatic cancer

ORPHA:1333

Familial papillary or follicular thyroid carcinoma

FNMTC · Familial pure nonmedullary thyroid carcinoma

ORPHA:319487

Hereditary leiomyomatosis and renal cell cancer

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

ORPHA:523

Isolated familial medullary thyroid carcinoma

Hereditary isolated MTC · Isolated familial MTC

ORPHA:99361

Metaplastic carcinoma of the breast

ORPHA:213531

OBSOLETE: Familial renal cell carcinoma

ORPHA:151