Rare Disease Library

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"

5 matching diseasesClear search ×

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2

OBSOLETE: Aldosterone synthase deficiency unrelated to CYP11B2 · OBSOLETE: Aldosterone synthase deficiency unrelated to the aldosterone synthase gene

ORPHA:99764

Early-onset familial hypoaldosteronism

Severe aldosterone synthase deficiency · Early-onset familial hyperreninemic hypoaldosteronism

ORPHA:556030

Isolated ATP synthase deficiency

Isolated mitochondrial respiratory chain complex V deficiency

ORPHA:254913

Late-onset familial hypoaldosteronism

Mild aldosterone synthase deficiency · Late-onset familial hyperreninemic hypoaldosteronism

ORPHA:556037

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1

OBSOLETE: 18-hydroxylase deficiency · OBSOLETE: Aldosterone synthase deficiency

ORPHA:99763