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renal hypomagnesemia 4

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene.
Uniprot Description A disorder characterized by massive renal hypomagnesemia and normal levels of serum calcium and calcium excretion. Clinical features include seizures, mild-to moderate psychomotor retardation, and brisk tendon reflexes.
Mondo Term and Equivalent IDs
MONDO:0012717:  renal hypomagnesemia 4
MESH:C567127: 
UMLS:C2673648: