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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"
Perinatal lethal hypophosphatasia
Perinatal lethal phosphoethanolaminuria · Perinatal lethal Rathbun disease
Adult hypophosphatasia
Adult Rathbun disease · Adult phosphoethanolaminuria
Fetal Gaucher disease
Perinatal lethal Gaucher disease
Hypophosphatasia
HPP · Phosphoethanolaminuria
Infantile hypophosphatasia
Infantile phosphoethanolaminuria · Infantile Rathbun disease
Prenatal benign hypophosphatasia
Prenatal benign phosphoethanolaminuria · Prenatal benign Rathbun disease