renal hypomagnesemia 5 with ocular involvement
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
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