Rare Disease Library

Trichohepatoenteric syndrome

Syndromic diarrhea · Phenotypic diarrhea

Congenital sodium diarrhea

Na-H exchanger 3 deficiency · CSD

Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome

Dinno syndrome

Dentinogenesis imperfecta

DGI · DGI without OI

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

Non-syndromic anorectal malformation

Non-syndromic ARM

Non-syndromic congenital bronchial atresia

Non-syndromic CBA

Shiga toxin-associated hemolytic uremic syndrome

Typical HUS · Typical hemolytic uremic syndrome

Syndromic aniridia

Syndromic cataract

Syndromic congenital sodium diarrhea

Syndromic congenital tufting enteropathy

Syndromic obesity

Syndromic recessive X-linked ichthyosis

Syndromic RXLI · Recessive X-linked ichthyosis with extracutaneous manifestations