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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617799
http://purl.bioontology.org/ontology/OMIM/617799
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 54 |
| Synonyms |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
MRD54
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
MRD54
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 54
|
| Gene Symbol |
MRD54
CAMK2B
|
| Scope Statement | Variable phenotype [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Caused by mutation in the calcium/calmodulin-dependent protein kinase II-beta gene (CAMK2B, 607707.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T048
|
| Gene Locus | 7p14
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 617799
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4540484
|
| 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 |