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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/300979
http://purl.bioontology.org/ontology/OMIM/300979
|
|---|---|
| Preferred Name | CHROMOSOME Xq25 DUPLICATION SYNDROME |
| Synonyms |
CHROMOSOME Xq25 TRIPLICATION SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | CHROMOSOME Xq25 TRIPLICATION SYNDROME
|
|---|---|
| prefLabel | CHROMOSOME Xq25 DUPLICATION SYNDROME
|
| Gene Symbol | DUPXq25
|
| Scope Statement | Contiguous gene syndrome caused by 202 to 746 kb duplication on chromosome Xq25 [MOLECULAR BASIS]
Female carriers may have mild intellectual disabilities or learning disabilities [MISCELLANEOUS]
One patient with a triplication of Xq25 and a more severe phenotype has been reported [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | Xq25
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 300979
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C4311049
C5677024
|
| 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 |