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"

2 matching diseasesClear search ×

Acute megakaryoblastic leukemia in children with Down syndrome

DS-AMKL in children with trisomy 21 · Acute megakaryoblastic leukemia in children with trisomy 21

ORPHA:99887

Acute megakaryoblastic leukemia in children without Down syndrome

Acute megakaryoblastic leukemia in children without trisomy 21 · Non-DS-AMKL

ORPHA:329469