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"

17 matching diseasesClear search ×

Midline cerebral malformation

Midline brain malformation

ORPHA:268926

Anorectal malformation

ARM

ORPHA:96346

Aortic malformation

ORPHA:98718

Brain arteriovenous malformation

Cerebral arteriovenous malformation

ORPHA:46724

Bronchial malformation

ORPHA:649014

Cerebellar malformation

ORPHA:182061

Cranial malformation

ORPHA:98038

Esophageal malformation

Malformation of the esophagus

ORPHA:88993

Genetic cerebral malformation

Genetic brain malformation

ORPHA:269553

Intestinal malformation

Malformation of the intestine

ORPHA:97945

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

Rare breast malformation

ORPHA:180163

Rare developmental defect during embryogenesis

Malformation syndrome

ORPHA:93890

Thoracic malformation

ORPHA:182108

Uterine arteriovenous malformation

UAVM · Arteriovenous malformation of the uterus

ORPHA:693815

Vein of Galen malformation

Vein of Galen arteriovenous malformations · VOGM

ORPHA:1053