Log In|Sign Up
ENBethlem Myopathy 2 (BTHLM2)
Alias:
Bthlm2
Edsmyp
Ehlers-Danlos Syndrome, Myopathic Type
Ehlers-Danlos Syndrome, Myopathic
Myopathic Ehlers-Danlos Syndrome
Eds/myopathy Overlap Syndrome
Myopathy, Bethlem, Type 2
Eds, Myopathic Type
Eds, Myopathic
Myopathic Eds
Favorite
Bethlem Myopathy 2, also known as bthlm2, is related to ullrich congenital muscular dystrophy 2 and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Bethlem Myopathy 2 is COL12A1 (Collagen Type XII Alpha 1 Chain). Affiliated tissues include skin and bone, and related phenotypes are flexion contracture and joint hypermobility
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
