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 ×

Non-syndromic anorectal malformation

Non-syndromic ARM

ORPHA:557

Non-syndromic anorectal malformation without fistula

Non-syndromic ARM without fistula · Non-syndromic anorectal malformation with no fistula

ORPHA:601002

Non-syndromic central nervous system malformation

ORPHA:108989

Non-syndromic cerebral malformation

Non-syndromic brain malformation

ORPHA:199633

Non-syndromic cerebral malformation due to abnormal neuronal migration

Brain malformation due to abnormal neuronal migration

ORPHA:163209

Non-syndromic cloacal malformation

ORPHA:600998

Non-syndromic diaphragmatic or abdominal wall malformation

ORPHA:108977

Non-syndromic diaphragmatic or thoracic malformation

ORPHA:180776

Non-syndromic esophageal malformation

ORPHA:108959

Non-syndromic gastroduodenal malformation

ORPHA:108963

Non-syndromic intestinal malformation

ORPHA:108967

Non-syndromic limb malformation

ORPHA:109011

Non-syndromic renal or urinary tract malformation

ORPHA:93546

Non-syndromic respiratory or mediastinal malformation

ORPHA:108993

Non-syndromic urogenital tract malformation

ORPHA:165704

Non-syndromic urogenital tract malformation of female

ORPHA:182117

Non-syndromic urogenital tract malformation of male

ORPHA:182121

Non-syndromic urogenital tract malformation of male and female

ORPHA:182124

Non-syndromic uterovaginal malformation

ORPHA:180065

Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen

ORPHA:108971

OBSOLETE: Arnold-Chiari malformation type II

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

ORPHA:1136

OBSOLETE: Cervicofacial lymphatic malformation

ORPHA:137923

OBSOLETE: Chondrodysplastic malformation syndrome

ORPHA:139015

OBSOLETE: Circumscribed lymphatic malformation

OBSOLETE: Circumscribed lymphangioma

ORPHA:217410

OBSOLETE: Ectodermal malformation syndrome associated with ocular features

ORPHA:98709

OBSOLETE: Facial arteriovenous malformation

ORPHA:156230

OBSOLETE: Frontonasal arteriovenous malformation

ORPHA:141168

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: Non-chondrodysplastic malformation syndrome affecting bones

ORPHA:139018

OBSOLETE: Palpebral tumor with a vascular malformation

ORPHA:98592

OBSOLETE: Split hand or/and split foot malformation

ORPHA:294935

OBSOLETE: Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome

OBSOLETE: Casamassima-Morton-Nance syndrome

ORPHA:94095

OBSOLETE: Sucking/swallowing disorder associated to cervicofacial or esophageal malformation

ORPHA:138084

OBSOLETE: Syndromic malformation of the optic disc

ORPHA:519357

Other syndrome with a central nervous system malformation as a major feature

ORPHA:269531

Pancreatic arteriovenous malformation

Arteriovenous malformation of the pancreas

ORPHA:693826

Paralytic facial malformation

ORPHA:156224

Peripheral arteriovenous malformation

Peripheral AVM

ORPHA:708046

Peripheral fast-flow vascular malformation

Peripheral arteriovenous malformation

ORPHA:707944

Polymalformative genetic syndrome with increased risk of developing cancer

ORPHA:183422

Polysyndactyly-cardiac malformation syndrome

Bonneau syndrome

ORPHA:2934

Porencephaly-cerebellar hypoplasia-internal malformations syndrome

Bonnemann-Meinecke syndrome

ORPHA:2941

Pulmonary arteriovenous malformation

PAVM

ORPHA:2038

Rare breast malformation

ORPHA:180163