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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620189
http://purl.bioontology.org/ontology/OMIM/620189
|
|---|---|
| Preferred Name | MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION |
| Synonyms |
MVA7
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | MVA7
|
|---|---|
| prefLabel | MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION
|
| Gene Symbol |
TXBP181
MAD1L1
MVA7
|
| Scope Statement | Onset in early childhood [MISCELLANEOUS]
Caused by mutation in the mitotic arrest deficient 1 like 1 gene (MAD1L1, 602686.0003) [MOLECULAR BASIS]
One patient has been reported (last curated January 2023) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 7p22
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620189
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5774284
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |