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"

9 matching diseasesClear search ×

Familial cerebral cavernous malformation

Familial brain cavernous angioma · Familial cerebral cavernoma

ORPHA:221061

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

ORPHA:1416

Hereditary arginine vasopressin deficiency

Hereditary CDI · Hereditary neurogenic diabetes insipidus

ORPHA:30925

Hereditary breast cancer

Familial breast cancer · Familial breast carcinoma

ORPHA:227535

Hereditary cerebral amyloid angiopathy

HCHWA · Hereditary cerebral hemorrhage with amyloidosis

ORPHA:85458

Hereditary clear cell renal cell carcinoma

Hereditary clear cell renal cell adenocarcinoma · Kidney cancer

ORPHA:422526

Hereditary gastric cancer

Hereditary cancer of stomach

ORPHA:423776

Hereditary papillary renal cell carcinoma

HPRC · Kidney cancer

ORPHA:47044

Pediatric-onset glaucoma of genetic origin

Hereditary glaucoma

ORPHA:359