Boomerang Dysplasia (BOOMD)

Alias:
Boomd
Dysplasia, Boomerang
Piepkorn Dysplasia
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Boomerang Dysplasia, also known as boomd, is related to atelosteogenesis and otopalatodigital syndrome, type ii. An important gene associated with Boomerang Dysplasia is FLNB (Filamin B), and among its related pathways/superpathways are Cytoskeletal Signaling and MAPK signaling pathway. Affiliated tissues include bone and brain, and related phenotypes are narrow chest and micromelia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
<1/1000000
11
70
12

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top