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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"
Ichthyosis-hypotrichosis syndrome
Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome
Neonatal ichthyosis-sclerosing cholangitis syndrome
Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome · IHSC
Hemiconvulsion-hemiplegia-epilepsy syndrome
HHE · HHE syndrome