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"

14 matching diseasesClear search ×

Global cerebellar malformation

Diffuse cerebellar malformation

ORPHA:269224

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

Cranial malformation

ORPHA:98038

Diffuse lymphatic malformation

Diffuse lymphangioma · Diffuse lymphangiomatosis

ORPHA:141209

Focal epilepsy-intellectual disability-cerebro-cerebellar malformation

Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome

ORPHA:352587

Genetic cerebellar malformation

ORPHA:269560

Genetic cerebral malformation

Genetic brain malformation

ORPHA:269553

Midline cerebral malformation

Midline brain malformation

ORPHA:268926

Non-syndromic cerebral malformation

Non-syndromic brain malformation

ORPHA:199633

Rare capillary malformation

ORPHA:211247

Syndrome with a cerebellar malformation as a major feature

ORPHA:269523