Rare Disease Library

Persistent hyperplastic primary vitreous

Non-syndromic congenital retinal non-attachment · PFVS

Congenital myasthenic syndrome

CMS

Congenital rubella syndrome

Mother-to-child transmission of rubella syndrome · CRS

Congenital sodium diarrhea

Na-H exchanger 3 deficiency · CSD

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

Non-syndromic rectal atresia

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

OBSOLETE: Congenital blindness due to retinal non-attachment

Rare congenital non-syndromic heart malformation

Syndromic congenital sodium diarrhea

Syndromic congenital tufting enteropathy