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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/309548
http://purl.bioontology.org/ontology/OMIM/309548
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109 |
| Synonyms |
MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE
FRAXE MENTAL RETARDATION SYNDROME
XLID109
MRX109
MENTAL RETARDATION, X-LINKED 109
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE
FRAXE MENTAL RETARDATION SYNDROME
XLID109
MRX109
MENTAL RETARDATION, X-LINKED 109
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 109
|
| Gene Symbol |
AFF2
FMR2
FRAXE
XLID109
|
| Scope Statement | Occurs in 1 in 50,000 newborn males [MISCELLANEOUS]
Caused by mutation in the AF4/FMR2 family, member 2 gene (AFF2, 300806.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T048
|
| Gene Locus | Xq28
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 309548
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0751157
|
| Moved from | 309540
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |