Log In|Sign Up
ENLeri-Weill Dyschondrosteosis (LWD)
Alias:
Léri-Weill Dyschondrosteosis
Lwd
Dyschondrosteosis
Dco
Dyschondrosteosis, Leri-Weill
Léri-Weill Syndrome
Leri-Weill Syndrome
Leri-Weil Syndrome
Favorite
Leri-Weill Dyschondrosteosis, also known as léri-weill dyschondrosteosis, is related to madelung deformity and shox-related short stature. An important gene associated with Leri-Weill Dyschondrosteosis is SHOX (SHOX Homeobox), and among its related pathways/superpathways is FGFR3 signaling in chondrocyte proliferation and terminal differentiation. Affiliated tissues include bone and skeletal muscle, and related phenotypes are depressed nasal bridge and wide nasal bridge
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
