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"

12 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: Frontonasal arteriovenous malformation

ORPHA:141168

OBSOLETE: High isolated anorectal malformation

ORPHA:171201

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