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"

13 matching diseasesClear search ×

Familial cerebral cavernous malformation

Familial brain cavernous angioma · Familial cerebral cavernoma

ORPHA:221061

Brain arteriovenous malformation

Cerebral arteriovenous malformation

ORPHA:46724

Cerebellar malformation

ORPHA:182061

Cerebral malformation with epilepsy

ORPHA:166478

Cerebral proliferative angiopathy

CPA · Holohemispheric giant cerebral arteriovenous malformation

ORPHA:692271

Familial intraosseous vascular malformation

Hereditary intraosseous vascular malformation · VMOS

ORPHA:140436

Genetic cerebral malformation

Genetic brain malformation

ORPHA:269553

Global cerebellar malformation

Diffuse cerebellar malformation

ORPHA:269224

Hereditary neurocutaneous malformation

ORPHA:1062

Macrocystic lymphatic malformation

Cavernous lymphangioma · Cavernous lymphatic malformation

ORPHA:79489

Midline cerebral malformation

Midline brain malformation

ORPHA:268926

Non-syndromic cerebral malformation

Non-syndromic brain malformation

ORPHA:199633

Splenic venous malformation

Splenic cavernous malformation · Splenic slow flow venous malformation

ORPHA:688523