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"

200 matching diseasesClear search ×

Capillary malformation-arteriovenous malformation

CM-AVM

ORPHA:137667

Capillary-lymphatic-venous malformation with segmental distribution

CLVM with segmental distribution · Klippel-Trénaunay syndrome

ORPHA:90308

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation

ORPHA:664401

Caudal duplication

Dipygus · Split notochord syndrome

ORPHA:1756

CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome

CAIN

ORPHA:566067

Celiac disease-epilepsy-cerebral calcification syndrome

CEC

ORPHA:1459

Central nervous system cystic malformation

ORPHA:269194

Central nervous system malformation

ORPHA:98044