Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
Jump to:
| Id | http://purl.bioontology.org/ontology/OMIM/616078
http://purl.bioontology.org/ontology/OMIM/616078
|
|---|---|
| Preferred Name | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 29 |
| Synonyms |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MRD29
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
MRD29
|
|---|---|
| prefLabel | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 29
|
| Gene Symbol |
KIAA0437
SETBP1
SEB
MRD29
|
| notation | 616078
|
| Scope Statement | Variable dysmorphic features [MISCELLANEOUS]
Caused by mutation in the SET-binding protein 1 gene (SETBP1, 611060.0006) [MOLECULAR BASIS]
|
| OMIM MimType Value | pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
|
| type | |
| Has manifestation |
See more
See less
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| Gene Locus | 18q12.31
|
| tui | T048
|
| cui | C4015141
|
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
- Problem retrieving properties:
Notes
Filter:
