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"

36 matching diseasesClear search ×

Genetic cerebral malformation

Genetic brain malformation

ORPHA:269553

Anorectal malformation

ARM

ORPHA:96346

Aortic malformation

ORPHA:98718

Brain arteriovenous malformation

Cerebral arteriovenous malformation

ORPHA:46724

Bronchial malformation

ORPHA:649014

Cranial malformation

ORPHA:98038

Diffuse lymphatic malformation

Diffuse lymphangioma · Diffuse lymphangiomatosis

ORPHA:141209

Genetic cardiac malformation

ORPHA:477805

Genetic central nervous system malformation

ORPHA:183506

Genetic cerebellar malformation

ORPHA:269560

Genetic congenital limb malformation

ORPHA:183536

Genetic cranial malformation

ORPHA:183542

Genetic digestive tract malformation

ORPHA:183545

Genetic head and neck malformation

ORPHA:183583

Genetic malformation syndrome with short stature

ORPHA:183570

Genetic neurovascular malformation

ORPHA:371436

Genetic non-syndromic central nervous system malformation

ORPHA:269550

Genetic otorhinolaryngological malformation

ORPHA:435603

Genetic posterior fossa malformation

ORPHA:269557

Genetic renal or urinary tract malformation

ORPHA:183539

Genetic respiratory malformation

ORPHA:183622

Genetic respiratory or mediastinal malformation

ORPHA:183554

Genetic syndromic esophageal malformation

ORPHA:371445

Genetic urogenital tract malformation

ORPHA:156622

Glomuvenous malformation

Glomangiomatosis · Hereditary multiple glomangiomas

ORPHA:83454

Macrocystic lymphatic malformation

Cavernous lymphangioma · Cavernous lymphatic malformation

ORPHA:79489

Midline cerebral malformation

Midline brain malformation

ORPHA:268926

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

Paralytic facial malformation

ORPHA:156224

Rare breast malformation

ORPHA:180163

Rare developmental defect during embryogenesis

Malformation syndrome

ORPHA:93890

Rare genetic capillary malformation

ORPHA:459526

Rare genetic venous malformation

ORPHA:459548

Thoracic malformation

ORPHA:182108

Vein of Galen malformation

Vein of Galen arteriovenous malformations · VOGM

ORPHA:1053