Arthrogryposis and Ectodermal Dysplasia

Alias:
Arthrogryposis-Ectodermal Dysplasia Syndrome
Stoll-Alembik-Finck Syndrome
Tricho-Oculo-Dermo-Vertebral Syndrome
Trichooculodermovertebral Syndrome
Alves Syndrome
Todv Syndrome
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Arthrogryposis and Ectodermal Dysplasia, also known as arthrogryposis-ectodermal dysplasia syndrome, is related to ectodermal dysplasia and arthrogryposis syndrome, and has symptoms including dry skin An important gene associated with Arthrogryposis and Ectodermal Dysplasia is OTOF (Otoferlin). Affiliated tissues include skin and skeletal muscle, and related phenotypes are diabetes mellitus and abnormal facial shape

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
16
6

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