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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/156200
http://purl.bioontology.org/ontology/OMIM/156200
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 |
| Synonyms |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 1
MRD1
CHROMOSOME 2q23.1 DUPLICATION SYNDROME
CHROMOSOME 2q23.1 DELETION SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 1
MRD1
CHROMOSOME 2q23.1 DUPLICATION SYNDROME
CHROMOSOME 2q23.1 DELETION SYNDROME
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1
|
| Gene Symbol |
KIAA1461
MBD5
MRD1
|
| Scope Statement | Those with larger deletions of chromosome 2q23.1 tend to have more dysmorphic features [MISCELLANEOUS]
Caused by mutation in the methyl-CpG-binding domain protein 5 gene (MBD5, 611472.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui |
T047
T048
|
| Gene Locus | 2q23.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 156200
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C5677023
C1969562
C3277090
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |