Log In|Sign Up
中文Microphthalmia, Syndromic 5 (MCOPS5)
Alias:
Syndromic Microphthalmia Type 5
Mcops5
Retinal Dystrophy, Early-Onset, with or Without Pituitary Dysfunction
Syndromic Microphthalmia/anophthalmia Due to Otx2 Mutation
Syndromic Microphthalmia 5
Microphthalmia, Syndromic, Type 5
Microphthalmia, Syndromic, 5
Rdeop
Favorite
Microphthalmia, Syndromic 5，又称综合性小眼症5型，与黄斑区的先天性缺损和Fryns小眼症综合征有关。Microphthalmia, Syndromic 5相关的基因是OTX2（Orthodenticle Homeobox 2），其相关通路/超级通路包括视网膜棒状细胞的视觉循环和视觉信号传导：锥体。相关组织包括垂体和眼睛，相关表型包括身材矮小和腭裂。
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
