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"

16 matching diseasesClear search ×

Hereditary breast cancer

Familial breast cancer · Familial breast carcinoma

ORPHA:227535

Benign hereditary chorea

BHC · Benign familial chorea

ORPHA:1429

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

Hereditary arginine vasopressin deficiency

Hereditary CDI · Hereditary neurogenic diabetes insipidus

ORPHA:30925

Hereditary breast and/or ovarian cancer syndrome

ORPHA:145

Hereditary clear cell renal cell carcinoma

Hereditary clear cell renal cell adenocarcinoma · Kidney cancer

ORPHA:422526

Hereditary diffuse gastric cancer

FDGC · Familial diffuse cancer of stomach

ORPHA:26106

Hereditary gastric cancer

Hereditary cancer of stomach

ORPHA:423776

Hereditary leiomyomatosis and renal cell cancer

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

ORPHA:523

Hereditary papillary renal cell carcinoma

HPRC · Kidney cancer

ORPHA:47044

Hereditary retinoblastoma

ORPHA:357027

Metaplastic carcinoma of the breast

ORPHA:213531

Pediatric-onset glaucoma of genetic origin

Hereditary glaucoma

ORPHA:359

Pituitary carcinoma

ORPHA:300385

Salivary gland type cancer of the breast

Salivary gland type carcinoma of the breast

ORPHA:213557