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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616944
http://purl.bioontology.org/ontology/OMIM/616944
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 41 |
| Synonyms |
MRD41
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MRD41
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 41
|
| Gene Symbol |
TBL1XR1
MRD41
TBLR1
C21
IRA1
|
| Scope Statement | Caused by mutation in the transducin-beta-like 1 receptor 1 gene (TBL1XR1, 608628.0001) [MOLECULAR BASIS]
Variable phenotype [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 3q26.32
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616944
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4310784
|
| Moved from | 270710
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |