Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
Jump to:
Id | http://purl.bioontology.org/ontology/OMIM/618914
http://purl.bioontology.org/ontology/OMIM/618914
|
---|---|
Preferred Name | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME |
Synonyms |
NEDJED
|
Type | http://www.w3.org/2002/07/owl#Class |
All Properties
altLabel | NEDJED
|
---|---|
prefLabel | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
|
Gene Symbol |
NEDJED
BTRC2
BTRCP2
FBXW1B
FBXW11
|
notation | 618914
|
Scope Statement | Clinical variability [MISCELLANEOUS]
Caused by mutation in the F-box and WD40 domain protein-11 gene (FBXW11, 605651.0001) [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 | 5q35.1
|
tui | T047
|
cui | C5394477
|
Add comment
Delete | Subject | Author | Type | Created |
---|---|---|---|---|
No notes to display |
- Problem retrieving properties: