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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"
Autosomal recessive infantile hypercalcemia
Familial infantile hypercalcemia with suppressed intact parathyroid hormone · Infantile hypercalcaemia type 1
Familial hypocalciuric hypercalcemia type 1
FHH type 1
HSD10 disease, infantile type
2-methyl-3-hydroxybutyric aciduria, classic type · 2-methyl-3-hydroxybutyric aciduria, infantile type
Hyperprolinemia type 1
Proline oxidase deficiency
Infantile glycine encephalopathy
Infantile NKH · Infantile non-ketotic hyperglycinemia