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"

200 matching diseasesClear search ×

Autosomal ichthyosis syndrome with prominent neurologic signs

ORPHA:281238

Autosomal monosomy syndrome

Autosomal deletion

ORPHA:102020

Autosomal non-syndromic agammaglobulinemia

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

ORPHA:33110

Autosomal recessive ACTN2-related distal myopathy

ORPHA:708129

Autosomal recessive Alport syndrome

ORPHA:88919

Autosomal recessive amelia

ORPHA:1027

Autosomal recessive anterior segment dysgenesis

ORPHA:519388

Autosomal recessive ataxia due to PEX10 deficiency

Mild peroxisomal disorder due to PEX10 deficiency

ORPHA:247815