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 ×

Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement

8p11 myeloproliferative syndrome · Stem cell leukemia/lymphoma

Autoimmune lymphoproliferative syndrome

ALPS · Canale-Smith syndrome

Myelodysplastic/myeloproliferative disease

MDS · Myelodysplastic syndromes

Myeloproliferative neoplasm

MPD · MPN

OBSOLETE: Lymphoproliferative syndrome

Transient myeloproliferative syndrome

TMD · Transient abnormal myelopoiesis

Unclassified myelodysplastic/myeloproliferative disease

MDS · Myelodysplastic syndromes

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

X-linked lymphoproliferative disease due to XIAP deficiency

X-linked lymphoproliferative syndrome type 2 · XLP2