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"

5 matching diseasesClear search ×

X-linked lymphoproliferative disease due to SAP deficiency

X-linked lymphoproliferative disease due to SH2 domain containing 1A protein deficiency · X-linked lymphoproliferative disease due to SH2D1A deficiency

ORPHA:538931

X-linked erythropoietic protoporphyria

X-linked dominant erythropoietic protoporphyria · X-linked dominant protoporphyria

ORPHA:443197

X-linked lymphoproliferative disease

Duncan disease · Purtilo syndrome

ORPHA:2442

X-linked lymphoproliferative disease due to XIAP deficiency

X-linked lymphoproliferative syndrome type 2 · XLP2

ORPHA:538934

X-linked reticulate pigmentary disorder

Familial cutaneous amyloidosis · PDR

ORPHA:85453