Log In|Sign Up
中文Arthrogryposis, Distal, Type 2b1 (DA2B1)
Alias:
Sheldon-Hall Syndrome
Distal Arthrogryposis Type 2b1
Arthrogryposis Multiplex Congenita, Distal, Type 2b
Freeman-Sheldon Syndrome Variant
Da2b1
Shs
Distal Arthrogryposis Type 2b
Fssv
Arthrogryposis Multiplex Congenita, Distal, Type Ii, with Craniofacial Abnormalities
Arthrogryposis Multiplex Congenita Distal Type Ii with Craniofacial Abnormalities
Arthrogryposis Multiplex Congenita Distal Type 2b
Arthrogryposis, Distal, Type 2b1a
Arthrogryposis, Distal, 2b1
Amcd2b
Da2b
Favorite
先天性关节挛缩，远端型2b1，也被称为谢尔顿-霍尔综合症，与先天性关节挛缩，远端型5和先天性关节挛缩，远端型1a有关，症状包括手腕的尺偏。与先天性关节挛缩，远端型2b1相关的基因是TNNI2（快肌原肌球蛋白I2），其相关通路/超级通路包括心脏传导和5q35拷贝数变异。相关组织包括皮肤和骨骼肌，相关表型包括脊柱侧弯和关节僵硬。
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
