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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"
Hypocalcemic vitamin D-dependent rickets
1-alpha-hydroxylase deficiency · PDDRI
Hypocalcemic vitamin D-resistant rickets
HVDRR · Hereditary vitamin D-resistant rickets
Pyridoxine-dependent-developmental and epileptic encephalopathy
Antiquitin deficiency · Vitamin B6-dependent seizures