Renal hypomagnesemia 5 with ocular involvement

MONDO:0009548

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.

Also known as: FHHNC with severe ocular involvement, FHHNCOI, Meier-Blumberg-Imahorn syndrome, hypercalciuria-bilateral macular coloboma syndrome, HOMG5, Meier Blumberg Imahorn syndrome, familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement, hypomagnesemia 5, renal, with ocular involvement

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