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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"
Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency
CIMAH · Methylenetetrahydrofolate dehydrogenase 1 deficiency
Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency
Omenn syndrome
Combined immunodeficiency with hypereosinophilia
Syndrome with combined immunodeficiency