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 ×

Immunodeficiency due to a late component of complement deficiency

Immunodeficiency due to C5 to C9 component complement deficiency · Terminal complement pathway deficiency

ORPHA:169150

Complement component 3 deficiency

C3 deficiency

ORPHA:280133

Familial LCAT deficiency

Complete LCAT deficiency · FLD

ORPHA:79293

Immunodeficiency due to a classical component pathway complement deficiency

Immunodeficiency due to an early component of complement deficiency · Immunodeficiency due to C1, C4, or C2 component complement deficiency

ORPHA:169147

Immunodeficiency due to a complement cascade component deficiency

ORPHA:459345

Immunodeficiency due to a complement regulatory deficiency

ORPHA:459348

Lesch-Nyhan syndrome

HPRT complete deficiency · HPRT deficiency grade IV

ORPHA:510