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 ×

X-linked agammaglobulinemia

BTK-deficiency · Bruton type agammaglobulinemia

ORPHA:47

Agammaglobulinemia

ORPHA:183669

Autosomal non-syndromic agammaglobulinemia

Non-syndromic agammaglobulinemia, non-Bruton type · Non-syndromic hypogammaglobulinemia

ORPHA:33110

Non-syndromic agammaglobulinemia

Non-syndromic hypogammaglobulinemia

ORPHA:229717

Short-limb skeletal dysplasia with severe combined immunodeficiency

Achondroplasia-SCID syndrome · Achondroplasia-Swiss type agammaglobulinemia syndrome

ORPHA:935

Simple cryoglobulinemia

Cryoglobulinemia type 1

ORPHA:91139

Syndromic agammaglobulinemia

ORPHA:229720