Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/611091
http://purl.bioontology.org/ontology/OMIM/611091
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 5 |
| Synonyms |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
MRT5
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
MRT5
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 5
|
| Gene Symbol |
NSUN2
MRT5
MISU
TRM4
SAKI
|
| Scope Statement | Dysmorphic features are variable [MISCELLANEOUS]
Caused by mutation in the NOL1/NOP2/SUN domain family, member 2 gene NSUN2 (610916.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T048
|
| Gene Locus | 5p15.31
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 611091
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1970199
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |