Log In|Sign Up
中文Adams-Oliver Syndrome (AOS)
Alias:
Congenital Scalp Defects with Distal Limb Reduction Anomalies
Aos
Congenital Scalp Defects with Distal Limb Anomalies
Limb, Scalp and Skull Defects
Adams Oliver Syndrome
Aplasia Cutis Congenita with Terminal Transverse Limb Defects
Absence Defect of Limbs, Scalp, and Skull
Limb Scalp and Skull Defects
Favorite
亚当斯-奥利弗综合症，又称先天性头皮缺陷伴远端肢体减少异常，与亚当斯-奥利弗综合症2和亚当斯-奥利弗综合症1有关，症状包括癫痫发作。与亚当斯-奥利弗综合症有关的重要基因是DLL4（Delta Like Canonical Notch Ligand 4），其相关通路/超级通路包括传染病和信号转导。附属组织包括皮肤和骨骼，相关表型为生长发育迟缓和皮肤发育不良/发育不全。
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
