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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"
Choreoacanthocytosis
ChAc · Chorea-acanthocytosis
Curly hair-acral keratoderma-caries syndrome
CHAC syndrome · CHACS
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
ALPS due to CTLA4 haploinsuffiency · CHAI
Congenital high airway obstruction syndrome
CHAOS