Log In|Sign Up
中文Asphyxiating Thoracic Dystrophy (ATD)
Alias:
Jeune Thoracic Dystrophy
Asphyxiating Thoracic Dysplasia
Jeune Syndrome
Short-Rib Thoracic Dysplasia with or Without Polydactyly
Dysplasia, Short-Rib Thoracic, with/without Polydactyly
Short-Rib Thoracic Dysplasia Without Polydactyly
Asphyxiating Thoracic Dystrophy of the Newborn
Chondroectodermal Dysplasia-Like Syndrome
Asphyxiating Thoracic Chondrodystrophy
Thoracic-Pelvic-Phalangeal Dystrophy
Thoracic Pelvic Phalangeal Dystrophy
Thoracic Asphyxiant Dystrophy
Asphyxiating Thorax Dystrophy
Infantile Thoracic Dystrophy
Jeune Thoracic Dysplasia
Atd
Favorite
窒息性胸椎发育不良，又称青年胸椎发育不良，与短肢胸椎发育不良1（伴有或不伴有多指）和短肢胸椎发育不良3（伴有或不伴有多指）有关，症状包括黄疸。与窒息性胸椎发育不良有关的重要基因是DYNC2H1（动力蛋白细胞质2重链1），其相关通路/超级通路包括信号转导和细胞器生物发生和维护。附属组织包括骨和胰腺，相关表型包括生长/大小/身体区域和神经系统。
Related ID：
ICD11：554018956
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
