Log In|Sign Up
中文Mesomelic Dysplasia, Savarirayan Type
Alias:
Mesomelic Dysplasia with Absent Fibulas and Triangular Tibias
Triangular Tibia-Fibular Aplasia Syndrome
Favorite
中间型发育不良，萨瓦里亚纳类型，也称为中间型发育不良伴缺失腓骨和三角形胫骨，与中间型发育不良有关。与中间型发育不良，萨瓦里亚纳类型有关的重要基因是ID4（DNA结合抑制因子4）。附属组织包括骨，相关表型为骨骼发育不良和长骨弯曲
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
