Rare Disease Library

Congenital sodium diarrhea

Na-H exchanger 3 deficiency · CSD

Congenital chloride diarrhea

Congenital Horner syndrome

Congenital Claude-Bernard-Horner syndrome

Congenital long QT syndrome

Congenital LQTS

Congenital myasthenic syndrome

CMS

Congenital rubella syndrome

Mother-to-child transmission of rubella syndrome · CRS

Congenital short QT syndrome

Congenital SQTS

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Isolated lower lip fistula

Isolated lower lip pits · Non-syndromic familial congenital lower lip pits

Non-syndromic congenital bronchial atresia

Non-syndromic CBA

Non-syndromic congenital phagocyte functional defect

Non-syndromic constitutional functional phagocyte defect · Non-syndromic congenital functional defect of phagocytes

Persistent hyperplastic primary vitreous

Non-syndromic congenital retinal non-attachment · PFVS

Rare congenital non-syndromic heart malformation

Syndromic congenital sodium diarrhea

Syndromic congenital tufting enteropathy

Trichohepatoenteric syndrome

Syndromic diarrhea · Phenotypic diarrhea