Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis (ABS2)

Alias:
Antley-Bixler Syndrome, Without Genital Anomalies or Disordered Steroidogenesis
Multisynostotic Osteodysgenesis with Long Bone Fractures
Trapezoidocephaly-Synostosis Syndrome
Abs2
Osteodysgenesis, Multisynostotic, with Fractures
Osteodysgenesis Multisynostotic with Fractures
Antley-Bixler Syndrome, Autosomal Dominant
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis, also known as antley-bixler syndrome, without genital anomalies or disordered steroidogenesis, is related to antley-bixler syndrome with disordered steroidogenesis and synostosis. An important gene associated with Antley-Bixler Syndrome Without Genital Anomalies or Disordered Steroidogenesis is FGFR2 (Fibroblast Growth Factor Receptor 2). Affiliated tissues include bone and kidney, and related phenotypes are intellectual disability and frontal bossing
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
--
2
54
32

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