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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618443
http://purl.bioontology.org/ontology/OMIM/618443
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES |
| Synonyms |
NEDBA
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NEDBA
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES
|
| Gene Symbol |
SYD2
JIP3
JSAP1
NEDBA
MAPK8IP3
|
| Scope Statement | Variable severity [MISCELLANEOUS]
Caused by mutation in the mitogen-activated protein kinase 8-interacting protein 3 gene (MAPK8IP3, 605431.0001) [MOLECULAR BASIS]
De novo mutation [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 16p13.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618443
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5193102
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |