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"

9 matching diseasesClear search ×

Simple cryoglobulinemia

Cryoglobulinemia type 1

ORPHA:91139

Citrullinemia type I

ASS deficiency · Argininosuccinate synthase deficiency

ORPHA:247525

Citrullinemia type II

Adult-onset citrin deficiency · CTLN2

ORPHA:247585

Cryoglobulinemic vasculitis

Essential cryoglobulinemia · Essential mixed cryoglobulinemia

ORPHA:91138

Hyperprolinemia type 1

Proline oxidase deficiency

ORPHA:419

Mixed cryoglobulinemia type II

MC type II

ORPHA:93554

Mixed cryoglobulinemia type III

MC type III

ORPHA:93555

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency

ORPHA:882

X-linked agammaglobulinemia

BTK-deficiency · Bruton type agammaglobulinemia

ORPHA:47