Log In|Sign Up
中文Microphthalmia with Limb Anomalies (MLA)
Alias:
Waardenburg Anophthalmia Syndrome
Ophthalmoacromelic Syndrome
Oas
Anophthalmia-Syndactyly Syndrome
Anophthalmia-Syndactyly
Mla
Anophthalmos with Limb Anomalies
Anophthalmos-Limb Anomalies Syndrome
Microphthalmia, with Limb Anomalies
Anophthalmia-Waardenburg Syndrome
Anophthalmia Waardenburg Syndrome
Syndactyly-Anophthalmos Syndrome
Ophthalmo-Acromelic Syndrome
Ophthalmo Acromelic Syndrome
Favorite
小眼畸形伴肢体异常，又称瓦尔登伯格无眼症综合征，与脑炎和蜱传脑炎有关。与小眼畸形伴肢体异常相关的重要基因是SMOC1（SPARC相关模块化钙结合1），其相关通路/超级通路包括先天免疫系统和免疫系统中的细胞因子信号通路。附属组织包括眼睛和肾脏，相关表型包括前额突出和关节融合
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
