Rare Disease Library

Dentinogenesis imperfecta

DGI · DGI without OI

Autosomal non-syndromic agammaglobulinemia

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

CINCA syndrome

IOMID syndrome · Infantile-onset multisystem inflammatory disease

Early onset non-syndromic cataract

Genetic non-syndromic obesity

Monogenic obesity due to a leptin-melanocortin pathway anomaly

Inherited non-syndromic ichthyosis

Isolated biliary atresia

Non-syndromic biliary atresia · Isolated atresia of bile ducts

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

Mohr-Tranebjaerg syndrome

DDON syndrome · Deafness-dystonia-optic neuronopathy syndrome

N syndrome

Nelson syndrome

Neuromyelitis optica spectrum disorder

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-MOG antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies

Devic disease · Devic syndrome

NOCARH syndrome

Neonatal-onset cytopenia-autoinflammation-rash episodes of hemophagocytic lymphohistiocytosis syndrome · Neonatal-onset cytopenia-autoinflammation-rash episodes of HLH syndrome

Non-syndromic agammaglobulinemia

Non-syndromic hypogammaglobulinemia

Non-syndromic amelia

Non-syndromic anal stenosis

Non-syndromic ARM with anal stenosis · Non-syndromic anorectal malformation with anal stenosis

Non-syndromic anorectal malformation

Non-syndromic ARM

Non-syndromic anorectal malformation without fistula

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

Non-syndromic bridging bronchus

Non-syndromic cerebral malformation

Non-syndromic brain malformation

Non-syndromic cloacal malformation

Non-syndromic complete hemimelia

Non-syndromic complex polydactyly

Non-syndromic congenital bronchial atresia

Non-syndromic CBA

Non-syndromic craniosynostosis

Isolated craniosynostosis

Non-syndromic H-type fistula

Non-syndromic ARM with H-type fistula · Non-syndromic anorectal malformation with H-type fistula

Non-syndromic hemimelia

Non-syndromic longitudinal meromelia

Non-syndromic intercalary limb defects

Non-syndromic intercalary meromelia

Non-syndromic joint formation defects

Non-syndromic limb malformation

Non-syndromic limb overgrowth

Non-syndromic limb reduction defect

Non-syndromic limb hypoplasia

Non-syndromic longitudinal limb defect

Non-syndromic metopic craniosynostosis

Isolated metopic craniosynostosis · Non-syndromic metopic suture synostosis

Non-syndromic pansynostosis

Isolated pansynostosis · Non-syndromic synostosis of all cranial vault sutures

Non-syndromic perineal fistula

Non-syndromic anorectal malformation with perineal fistula · Non-syndromic ARM with perineal fistula

Non-syndromic polydactyly

Non-syndromic postaxial polydactyly

Non-syndromic posterior hypospadias

Perineal, scrotal or penoscrotal hypospadias · Hypospadias, severe form

Non-syndromic pouch colon

Non-syndromic ARM with pouch colon · Non-syndromic anorectal malformation with pouch colon

Non-syndromic preaxial polydactyly

Non-syndromic rectal atresia

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

Non-syndromic rectal stenosis

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

Non-syndromic rectourethral fistula

Non-syndromic ARM with rectourethral fistula · Non-syndromic anorectal malformation with rectourethral fistula

Non-syndromic rectourethral fistula, bulbar type

Non-syndromic ARM with rectourethral fistula, bulbar type · Non-syndromic anorectal malformation with rectobulbar fistula