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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/602014
http://purl.bioontology.org/ontology/OMIM/602014
|
|---|---|
| Preferred Name | HYPOMAGNESEMIA 1, INTESTINAL |
| Synonyms |
HOMG1
HYPOMAGNESEMIC TETANY
HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA
HYPOMAGNESEMIA, INTESTINAL, WITH SECONDARY HYPOCALCEMIA
HSH
HOMG
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HOMG1
HYPOMAGNESEMIC TETANY
HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA
HYPOMAGNESEMIA, INTESTINAL, WITH SECONDARY HYPOCALCEMIA
HSH
HOMG
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|
|---|---|
| prefLabel | HYPOMAGNESEMIA 1, INTESTINAL
|
| Gene Symbol |
HOMG1
CHAK2
TRPM6
|
| Scope Statement | Caused by mutation in the transient receptor potential cation channel, subfamily M, member 6 gene (TRPM6, 607009.0001) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 9q22
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 602014
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C1865974
C1321780
|
| Moved from | 307600
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |