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"

4 matching diseasesClear search ×

Acute panmyelosis with myelofibrosis

Acute myelodysplasia with myelofibrosis · Acute myelofibrosis

ORPHA:86843

Acute myeloid leukaemia with myelodysplasia-related features

AML with multilineage dysplasia · Acute myeloid leukemia with multilineage dysplasia

ORPHA:86845

Mazabraud syndrome

Myxoma with fibrous dysplasia

ORPHA:57782

Primary myelofibrosis

Agnogenic myeloid metaplasia · Idiopathic myelofibrosis

ORPHA:824