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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"
PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis
PIEZO1-related LRHF/GLD · PIEZO1-related generalized lymphatic dysplasia with systemic involvement
Diffuse lymphatic malformation
Diffuse lymphangioma · Diffuse lymphangiomatosis
EPHB4-related lymphatic-related hydrops fetalis
EPHB4-related generalized lymphatic dysplasia with atrial septal defect · EPHB4-related LRHF/GLD