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"

7 matching diseasesClear search ×

Non-syndromic congenital phagocyte functional defect

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

ORPHA:674896

Congenital functional phagocyte defect

Congenital functional defect of phagocyte · Constitutional functional phagocyte defect

ORPHA:183681

Isolated constitutional thrombocytopenia

Non-syndromic constitutional thrombocytopenia · Constitutional thrombocytopenia without extra-hematopoietic manifestations

ORPHA:477797

Non-syndromic limb reduction defect

Non-syndromic limb hypoplasia

ORPHA:93457

Non-syndromic longitudinal limb defect

ORPHA:498457

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

Syndromic constitutional thrombocytopenia

ORPHA:477794