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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"
Congenital reticular ichthyosiform erythroderma
CRIE · IWC
IBIDS syndrome
Tay syndrome · Trichothiodystrophy type E
Ichthyosis
Ichthyosis-prematurity syndrome
Congenital ichthyosis type 4 · IPS
Keratoderma hereditarium mutilans with ichthyosis
Camisa disease · Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome