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"

15 matching diseasesClear search ×

OBSOLETE: Arnold-Chiari malformation type II

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

ORPHA:1136

Arnold-Chiari malformation type I

Arnold-Chiari malformation type 1 · Chiari malformation type 1

ORPHA:268882

OBSOLETE: Cervicofacial lymphatic malformation

ORPHA:137923

OBSOLETE: Chondrodysplastic malformation syndrome

ORPHA:139015

OBSOLETE: Circumscribed lymphatic malformation

OBSOLETE: Circumscribed lymphangioma

ORPHA:217410

OBSOLETE: Facial arteriovenous malformation

ORPHA:156230

OBSOLETE: High isolated anorectal malformation

ORPHA:171201

OBSOLETE: Intermediate isolated anorectal malformation

ORPHA:171208

OBSOLETE: Low isolated anorectal malformation

ORPHA:171215

OBSOLETE: Mandibular arteriovenous malformation

OBSOLETE: Arteriovenous malformation of mandible

ORPHA:141174

OBSOLETE: Maxillary arteriovenous malformation

OBSOLETE: Arteriovenous malformation of maxilla

ORPHA:141171

OBSOLETE: Split hand or/and split foot malformation

ORPHA:294935

OBSOLETE: Syndromic malformation of the optic disc

ORPHA:519357

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