Rare Disease Library

Non-syndromic congenital phagocyte functional defect

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

Congenital functional phagocyte defect

Congenital functional defect of phagocyte · Constitutional functional phagocyte defect

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 limb reduction defect

Non-syndromic limb hypoplasia

Persistent hyperplastic primary vitreous

Non-syndromic congenital retinal non-attachment · PFVS

Quantitative and/or qualitative congenital phagocyte defect

Rare congenital non-syndromic heart malformation

Syndrome with congenital phagocyte functional defect as a major feature

Syndrome with congenital functional defect of phagocyte as a major feature · Syndrome with constitutional functional phagocyte defect as a major feature