Rare Disease Library

Non-syndromic limb reduction defect

Non-syndromic limb hypoplasia

Autosomal non-syndromic agammaglobulinemia

Non-syndromic agammaglobulinemia, non-Bruton type · Non-syndromic hypogammaglobulinemia

Dentinogenesis imperfecta

DGI · DGI without OI

Hypoplastic left heart syndrome

HLHS

Isolated biliary atresia

Non-syndromic biliary atresia · Isolated atresia of bile ducts

Non-syndromic agammaglobulinemia

Non-syndromic hypogammaglobulinemia

Non-syndromic amelia

Non-syndromic anorectal malformation

Non-syndromic ARM

Non-syndromic congenital bronchial atresia

Non-syndromic CBA

Non-syndromic hemimelia

Non-syndromic longitudinal meromelia

Non-syndromic intercalary limb defects

Non-syndromic intercalary meromelia

Non-syndromic limb malformation

Non-syndromic limb overgrowth

Non-syndromic longitudinal limb defect

Non-syndromic posterior hypospadias

Perineal, scrotal or penoscrotal hypospadias · Hypospadias, severe form

Non-syndromic rectal atresia

Non-syndromic ARM with rectal atresia · Non-syndromic anorectal malformation with rectal atresia

Non-syndromic syndactyly

Syndromic breast hypoplasia/aplasia

Syndromic hyperopia

Syndromic optic nerve hypoplasia

Syndromic orbital border hypoplasia

Urrets-Zavalia syndrome

Ulnar hypoplasia-split foot syndrome

Ulnar hypoplasia-lobster-claw deformity of feet syndrome · Van den Berghe-Dequecker syndrome