renal hypomagnesemia 5 with ocular involvement
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.
MONDO:0010645
oculocerebrorenal syndrome
excluded_subClassOf
MONDO:0017624
familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
is_a
MONDO:0020242
hereditary macular dystrophy
is_a
FHHNC with severe ocular involvement
exact
FHHNCOI
exact
HOMG5
related
Meier Blumberg Imahorn syndrome
related
Meier-Blumberg-Imahorn syndrome
exact
hypercalciuria-bilateral macular coloboma syndrome
exact
hypomagnesemia 5, renal, with ocular involvement
related
idiopathic hypercalciuria with bilateral macular colobomata
related