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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/301006
http://purl.bioontology.org/ontology/OMIM/301006
|
|---|---|
| Preferred Name | GALLOWAY-MOWAT SYNDROME 2, X-LINKED |
| Synonyms |
GAMOS2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | GAMOS2
|
|---|---|
| prefLabel | GALLOWAY-MOWAT SYNDROME 2, X-LINKED
|
| Gene Symbol |
LAGE3
GAMOS2
ITBA2
|
| Scope Statement | Early death may occur [MISCELLANEOUS]
Four patients from 3 unrelated families have been reported (last curated October 2017) [MISCELLANEOUS]
Onset in the first months or years of life [MISCELLANEOUS]
Caused by mutation in the L antigen family, member 3 gene (LAGE3, 300060.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | Xq28
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 301006
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4538784
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |