Log In|Sign Up
ENSpondyloepimetaphyseal Dysplasia, Strudwick Type (SEMDSTWK)
Alias:
Spondylometaphyseal Dysplasia
Strudwick Syndrome
Spondylometaepiphyseal Dysplasia Congenita, Strudwick Type
Dappled Metaphysis Syndrome
Semd, Strudwick Type
Smed, Strudwick Type
Smed Strudwick Type
Smed, Type I
Semdstwk
Semdc
Smd
Spondyloepiphyseal Dysplasia Congenita with Dappled Metaphyses
Dysplasia, Spondyloepimetaphyseal, Strudwick Type
Dysplasia, Spondylometaphyseal
Sed Strudwick
Smed Type 1
Smed Type I
Favorite
Spondyloepimetaphyseal Dysplasia, Strudwick Type, also known as spondylometaphyseal dysplasia, is related to spondylometaphyseal dysplasia, corner fracture type and metaphyseal chondrodysplasia, schmid type. An important gene associated with Spondyloepimetaphyseal Dysplasia, Strudwick Type is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include bone and spinal cord, and related phenotypes are pectus carinatum and disproportionate short-limb short stature
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
