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"

4 matching diseasesClear search ×

Autosomal dominant primary hypomagnesemia with hypocalciuria

HOMG2 · Isolated autosomal dominant hypomagnesemia

ORPHA:34528

Hyperprolinemia type 2

Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency

ORPHA:79101

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement

FHHNC without severe ocular involvement · HOMG3

ORPHA:31043

Primary hypomagnesemia with secondary hypocalcemia

HOMG1 · HSH

ORPHA:30924