Microphthalmia

Microphthalmia(来自ICD-11)
别称:
Microphthalmos
Isolated Nanophthalmos
Simple Microphthalmos
Globe of Eye Small
Hypoplasia of Eye
Dysplasia of Eye
Rudimentary Eye
Small Eyeball
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
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
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相关ID:
MESH:D008850
ICD11:1342802999

基础信息

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参考文献
MALACARDS
XLD
AD
AR
XL
Antenatal
--
155
2123
3

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