Medical Subject Headings

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/MESH/C537153
http://purl.bioontology.org/ontology/MESH/C537153
Preferred Name

Hypomagnesemia primary
Synonyms
Hypomagnesemia, Primary, Due To Defect In Renal Tubular Transport Of Magnesium
Magnesium, defect in renal tubular transport of
Hypomagnesemia 3, Renal
Hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis
Hypomagnesemia, isolated renal
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
Hypomagnesemia, Primary, Due To Defect In Renal Tubular Transport Of Magnesium
Magnesium, defect in renal tubular transport of
Hypomagnesemia 3, Renal
Hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis
Hypomagnesemia, isolated renal
prefLabel
Hypomagnesemia primary
Scope Statement
A progressive renal disorder characterized by excessive urinary Ca(2+) and Mg(2+) excretion. There is progressive loss of kidney function, and in about 50% of cases, the need for renal replacement therapy by the second decade of life. Germline mutations in the CLDN16 gene have been identified. OMIM: 603959
type
tui
T047
HM
D009397
D015499
D053565
SC
3
TERMUI
T741647
T741648
T801204
T801202
T741646
T741645
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TH
OMIM (2013)
ORD (2010)
MMR
20150818
notation
C537153
Semantic type UMLS property
cui
C0268448
MeSH Frequency
128
DSC
20100825
Inverse of RB
0
Mapped to
MDA
20100825
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