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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"
Allan-Herndon-Dudley syndrome
AHDS · MCT8 deficiency
Neurodegenerative syndrome due to cerebral folate transport deficiency
Folate receptor alpha deficiency · Cerebral folate transport deficiency
Riboflavin transporter deficiency
Brown-Vialetto-van Laere syndrome
X-linked creatine transporter deficiency
Creatine transporter deficiency · SLC6A8 deficiency