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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"
POEMS syndrome
Crow-Fukase syndrome · Osteosclerotic myeloma
Autoimmune polyendocrinopathy type 1
APECED syndrome · APS type 1
Digital extensor muscle aplasia-polyneuropathy
Hamanishi-Ueba-Tsuji syndrome · Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Autoimmune enteropathy type 1 · IPEX
Polyendocrine-polyneuropathy syndrome