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 ×

Alpha-heavy chain disease

Alpha-HCD · IPSID

ORPHA:100025

OBSOLETE: Immunoproliferative small intestinal disease

OBSOLETE: IPSID · OBSOLETE: Mediterranean lymphoma

ORPHA:103915

Dianzani autoimmune lymphoproliferative disease

DALD

ORPHA:275523

Genetic intestinal disease

ORPHA:165655

Immunodeficiency-associated lymphoproliferative disease

ORPHA:98290

Myelodysplastic/myeloproliferative disease

MDS · Myelodysplastic syndromes

ORPHA:98275

Rare intestinal disease

ORPHA:117569

Transient myeloproliferative syndrome

TMD · Transient abnormal myelopoiesis

ORPHA:420611

X-linked lymphoproliferative disease

Duncan disease · Purtilo syndrome

ORPHA:2442