Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617788
http://purl.bioontology.org/ontology/OMIM/617788
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 51 |
| Synonyms |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 51
MRD51
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 51
MRD51
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 51
|
| Gene Symbol |
SUV420H1
KMT5B
CGI85
MRD51
|
| Scope Statement | Variable extraneurologic features [MISCELLANEOUS]
Caused by mutation in the lysine-specific methyltransferase 5B gene KMT5B, 610881.0001 [MOLECULAR BASIS]
Highly variable phenotype [MISCELLANEOUS]
De novo mutation (in most patients) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T048
|
| Gene Locus | 11q13
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 617788
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4540474
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |