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 ×

Benign hereditary chorea

BHC · Benign familial chorea

ORPHA:1429

Familial benign copper deficiency

Familial benign hypocupremia

ORPHA:1551

Familial benign flecked retina

ORPHA:363989

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 hypocalciuric hypercalcemia

FBH · FBHH

ORPHA:405

Hailey-Hailey disease

Benign chronic familial pemphigus

ORPHA:2841

Hereditary breast cancer

Familial breast cancer · Familial breast carcinoma

ORPHA:227535

Multiple symmetric lipomatosis

Cephalothoracic lipodystrophy · Familial benign cervical lipomatosis

ORPHA:2398

Self-limited infantile epilepsy

BFIE · BFIS

ORPHA:306

Self-limited neonatal epilepsy

BFNS · Benign familial neonatal convulsions

ORPHA:1949