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"

10 matching diseasesClear search ×

Arnold-Chiari malformation type I

Arnold-Chiari malformation type 1 · Chiari malformation type 1

ORPHA:268882

Aortic malformation

ORPHA:98718

Bronchial malformation

ORPHA:649014

Congenital pulmonary airway malformation type 1

CCAM type 1 · CPAM type 1

ORPHA:280832

Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

Berant syndrome · Capra-DeMarco syndrome

ORPHA:171839

OBSOLETE: Arnold-Chiari malformation type II

OBSOLETE: Arnold-Chiari malformation type 2 · OBSOLETE: Chiari malformation type 2

ORPHA:1136

Slow-flow malformation, lymphatic type

ORPHA:211255

Slow-flow malformation, venous type

Rare venous malformation

ORPHA:211252

Split cord malformation type I

Diastematomyelia · SCM type I

ORPHA:1671

Split cord malformation, composite type

Split cord malformation type 1.5 · Split cord malformation, mixed type

ORPHA:633076