Log In|Sign Up
中文Pallister-Hall Syndrome (PHS)
Alias:
Hypothalamic Hamartoblastoma Syndrome
Phs
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly
Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus and Postaxial Polydactyly
Hall-Pallister Syndrome
Favorite
帕利斯特-霍尔综合症，又称下丘脑错构瘤综合症，与库勒-琼斯综合症和多指症，后轴型A1有关。帕利斯特-霍尔综合症相关的重要基因是GLI3（GLI家族锌指3），其相关通路/超级通路包括信号转导和激活cAMP依赖性PKA。附属组织包括垂体和下丘脑，相关表型为下丘脑错构瘤和巨脑。
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
