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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"
OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2
OBSOLETE: Aldosterone synthase deficiency unrelated to CYP11B2 · OBSOLETE: Aldosterone synthase deficiency unrelated to the aldosterone synthase gene
Early-onset familial hypoaldosteronism
Severe aldosterone synthase deficiency · Early-onset familial hyperreninemic hypoaldosteronism
Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
Late-onset familial hypoaldosteronism
Mild aldosterone synthase deficiency · Late-onset familial hyperreninemic hypoaldosteronism
OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1
OBSOLETE: 18-hydroxylase deficiency · OBSOLETE: Aldosterone synthase deficiency