Log In|Sign Up
ENSpondylometaphyseal Dysplasia, Sedaghatian Type (SMDS)
Alias:
Sedaghatian Chondrodysplasia
Smds
Spondylometaphyseal Dysplasia Sedaghatian Type
Congenital Lethal Metaphyseal Chondrodysplasia
Metaphyseal Chondrodysplasia, Congenital Lethal
Favorite
Spondylometaphyseal Dysplasia, Sedaghatian Type, also known as sedaghatian chondrodysplasia, is related to opsismodysplasia and spondyloepimetaphyseal dysplasia, strudwick type. An important gene associated with Spondylometaphyseal Dysplasia, Sedaghatian Type is GPX4 (Glutathione Peroxidase 4). Affiliated tissues include bone and heart, and related phenotypes are delayed skeletal maturation and atrioventricular block
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
