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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"
Acute megakaryoblastic leukemia in children with Down syndrome
DS-AMKL in children with trisomy 21 · Acute megakaryoblastic leukemia in children with trisomy 21
Acute megakaryoblastic leukemia in children without Down syndrome
Acute megakaryoblastic leukemia in children without trisomy 21 · Non-DS-AMKL
CHILD syndrome
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects · CHILD nevus
Down syndrome
Trisomy 21