Log In|Sign Up
ENMicrophthalmia
Alias:
Microphthalmos
Isolated Nanophthalmos
Simple Microphthalmos
Globe of Eye Small
Hypoplasia of Eye
Dysplasia of Eye
Rudimentary Eye
Small Eyeball
Favorite
Microphthalmia, also known as microphthalmos, is related to microphthalmia, syndromic 3 and microphthalmia, syndromic 1. An important gene associated with Microphthalmia is VSX2 (Visual System Homeobox 2), and among its related pathways/superpathways are Mesodermal commitment pathway and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. Affiliated tissues include eye and retina, and related phenotypes are growth/size/body region and nervous system
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
