Rare Disease Library

Reticular dysgenesis-like severe combined immunodeficiency

Reticular dysgenesis-like SCID · Activated Rac2 defect

Caudal regression syndrome

Caudal dysgenesis syndrome · Caudal dysplasia

Dentinogenesis imperfecta

DGI · DGI without OI

Genetic non-syndromic obesity

Monogenic obesity due to a leptin-melanocortin pathway anomaly

Hypodontia-dysplasia of nails syndrome

Hypodontia-nail dysgenesis syndrome · Tooth and nail syndrome

Non-syndromic anorectal malformation

Non-syndromic ARM

Non-syndromic congenital bronchial atresia

Non-syndromic CBA

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, bulbar type

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

Postlingual non-syndromic genetic deafness

Isolated postlingual genetic deafness · Isolated postlingual genetic hearing loss

Prelingual non-syndromic genetic deafness

Isolated prelingual genetic deafness · Isolated prelingual genetic hearing loss

Rare non-syndromic genetic deafness

Renal tubular dysgenesis

Primitive renal tubule syndrome · Renotubular dysgenesis

Reticular dysgenesis

AK2 deficiency · De Vaal disease