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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/248190
http://purl.bioontology.org/ontology/OMIM/248190
|
|---|---|
| Preferred Name | HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT |
| Synonyms |
HYPOMAGNESEMIA, FAMILIAL, WITH HYPERCALCIURIA, NEPHROCALCINOSIS, AND SEVERE OCULAR INVOLVEMENT
HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT
HOMG5
MACULAR COLOBOMA, BILATERAL, WITH HYPERCALCIURIA
FHHNC WITH SEVERE OCULAR INVOLVEMENT
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HYPOMAGNESEMIA, FAMILIAL, WITH HYPERCALCIURIA, NEPHROCALCINOSIS, AND SEVERE OCULAR INVOLVEMENT
HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT
HOMG5
MACULAR COLOBOMA, BILATERAL, WITH HYPERCALCIURIA
FHHNC WITH SEVERE OCULAR INVOLVEMENT
|
|---|---|
| prefLabel | HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT
|
| Gene Symbol |
HOMG5
CLDN19
|
| Scope Statement | Variable severity of amelogenesis imperfecta, even within the same patient [MISCELLANEOUS]
Caused by mutation in the claudin 19 (CLDN19, 610036.0001) [MOLECULAR BASIS]
Some patients have normal vision [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1p34.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 248190
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C4721891
C1855466
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |