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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"
Autoimmune polyendocrinopathy type 1
APECED syndrome · APS type 1
Chronic mucocutaneous candidiasis
CMC
Dahlberg-Borer-Newcomer syndrome
Lymphedema-hypoparathyroidism syndrome · Dahlberg syndrome
Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome · Barakat syndrome
Syndrome with hypoparathyroidism