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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"
Familial isolated café-au-lait macules
Familial isolated CALSs · Multiple isolated café-au-lait spots
Familial isolated congenital asplenia
Familial isolated dilated cardiomyopathy
Familial or idiopathic dilated cardiomyopathy
Familial isolated pituitary adenoma
FIPA
Familial isolated trichomegaly
Isolated familial medullary thyroid carcinoma
Hereditary isolated MTC · Isolated familial MTC