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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"
Postural orthostatic tachycardia syndrome due to NET deficiency
Orthostatic intolerance due to NET deficiency · POTS due to NET deficiency
Charcot-Marie-Tooth disease type 2B5
SEOAN due to NEFL deficiency · AR-CMT2B5
Combined immunodeficiency due to ORAI1 deficiency
CID due to ORAI1 deficiency
Neonatal intrahepatic cholestasis due to citrin deficiency
NICCD · Neonatal intrahepatic cholestasis caused by citrin deficiency