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"

10 matching diseasesClear search ×

Hyperimmunoglobulinemia D with periodic fever

HIDS · Hyper-IgD syndrome

ORPHA:343

Autosomal non-syndromic agammaglobulinemia

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

ORPHA:33110

Hyper-IgE syndrome

ORPHA:331223

Hyperinsulinism-hyperammonemia syndrome

HI/HA syndrome

ORPHA:35878

Non-syndromic agammaglobulinemia

Non-syndromic hypogammaglobulinemia

ORPHA:229717

OBSOLETE: Autosomal recessive hyper-IgE syndrome

OBSOLETE: AR-HIES · OBSOLETE: Autosomal recessive HIES

ORPHA:169446

Osteopetrosis-hypogammaglobulinemia syndrome

Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia · Autosomal recessive osteopetrosis type 7

ORPHA:178389

Say-Barber-Miller syndrome

Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome

ORPHA:3132

Syndromic agammaglobulinemia

ORPHA:229720

Thymoma-hypogammaglobulinemia syndrome

Good syndrome

ORPHA:169105