Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
Jump to:
| Id | http://purl.bioontology.org/ontology/OMIM/618577
http://purl.bioontology.org/ontology/OMIM/618577
|
|---|---|
| Preferred Name | NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES |
| Synonyms |
NEDBAF
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NEDBAF
|
|---|---|
| prefLabel | NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES
|
| Gene Symbol | RAC3
|
| notation | 618577
|
| Scope Statement | Onset in infancy [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Caused by mutation in the Rac family small GTPase 3 gene (RAC3, 602050.0001) [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 | 17q25.3
|
| tui | T047
|
| cui | C5231416
|
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |