Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

5 matching diseasesClear search ×

Congenital functional phagocyte defect

Congenital functional defect of phagocyte · Constitutional functional phagocyte defect

ORPHA:183681

Congenital Gerbode defect

Left ventricular-to-right atrial communication

ORPHA:99095

Non-syndromic congenital phagocyte functional defect

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

ORPHA:674896

Quantitative and/or qualitative congenital phagocyte defect

ORPHA:101985

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

ORPHA:674648