Hypomagnesemia 5, Renal, with or Without Ocular Involvement (HOMG5)

Hypomagnesemia 5, Renal, with or Without Ocular Involvement(来自ICD-11)
别称:
Fhhnc with Severe Ocular Involvement
Renal Hypomagnesemia 5 with Ocular Involvement
Hypercalciuria-Bilateral Macular Coloboma Syndrome
Meier-Blumberg-Imahorn Syndrome
Familial Hypomagnesemia with Hypercalciuria, Nephrocalcinosis and Severe Ocular Involvement
Hypomagnesemia 5, Renal, with Ocular Involvement
Hypomagnesemia, Renal, with Ocular Involvement
Meier Blumberg Imahorn Syndrome
Homg5
Hypomagnesemia, Familial, with Hypercalciuria, Nephrocalcinosis, and Severe Ocular Involvement
Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis with Severe Ocular Involvement
Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis with Severe Ocul
Hypomagnesemia, Type 5, Renal, with Ocular Involvement
Macular Coloboma, Bilateral, with Hypercalciuria
Bilateral Macular Coloboma with Hypercalciuria
Hypomagnesemia 5 Renal with Ocular Involvement
Macular Coloboma Bilateral with Hypercalciuria
Hypomagnesemia Renal with Ocular Involvement
Hypomagnesemia 5
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Hypomagnesemia 5, Renal, with or Without Ocular Involvement, also known as fhhnc with severe ocular involvement, is related to hypomagnesemia 3, renal and primary hypomagnesemia with hypercalciuria and nephrocalcinosis. An important gene associated with Hypomagnesemia 5, Renal, with or Without Ocular Involvement is CLDN19 (Claudin 19), and among its related pathways/superpathways are Sertoli-Sertoli Cell Junction Dynamics and Cell junction organization. Affiliated tissues include eye and kidney, and related phenotypes are nystagmus and abnormality of retinal pigmentation
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