Rare Disease Library

Genetic cardiac malformation

Genetic cerebellar malformation

Genetic cerebral malformation

Genetic brain malformation

Genetic congenital limb malformation

Genetic cranial malformation

Genetic urogenital tract malformation

Global cerebellar malformation

Diffuse cerebellar malformation

Glomuvenous malformation

Glomangiomatosis · Hereditary multiple glomangiomas

Glucose-galactose malabsorption

CGGM · Congenital glucose-galactose malabsorption

Hemi-myelomeningocele

Open split-cord malformation

Hepatic arteriovenous malformation

Congenital hepatic arteriovenous malformation · HAVM

Hereditary folate malabsorption

Congenital folate malabsorption

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

Intestinal malformation

Malformation of the intestine

Isolated congenital auditory ossicle malformation

Congenital auditory ossicle malformation without external ear abnormality

Isolated Klippel-Feil syndrome

Congenital cervical vertebral fusion · Congenital fused cervical segments

Midline cerebral malformation

Midline brain malformation

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

Non-syndromic urogenital tract malformation

Non-syndromic urogenital tract malformation of male

Paralytic facial malformation

Rare breast malformation

Rare capillary malformation

Rare congenital non-syndromic heart malformation

Rare developmental defect during embryogenesis

Malformation syndrome

Rare vaginal malformation

Respiratory malformation

Retinal capillary malformation

Retinal cavernous hemangioma

Segmental venous malformation

Bockenheimer syndrome · Genuine diffuse phlebectasia

Slow-flow malformation, venous type

Rare venous malformation

Splenic venous malformation

Splenic cavernous malformation · Splenic slow flow venous malformation

Split cord malformation type I

Diastematomyelia · SCM type I

Split cord malformation, composite type

Split cord malformation type 1.5 · Split cord malformation, mixed type

Syndromic urogenital tract malformation

Thoracic malformation

Urogenital tract malformation

Uterovaginal malformation