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"

3 matching diseasesClear search ×

Fanconi anemia

Fanconi pancytopenia

ORPHA:84

Ataxia-pancytopenia syndrome

ATXPC syndrome · SAMD9L-related ataxia-pancytopenia syndrome

ORPHA:2585

Evans syndrome

Autoimmune hemolytic anemia and autoimmune thrombocytopenia · Immune pancytopenia

ORPHA:1959