Coloboma of Optic Nerve (COLON)

Alias:
Coloboma of Optic Disc
Morning Glory Disc Anomaly
Coloboma of Optic Papilla
Morning Glory Syndrome
Ectasic Coloboma
Coloboma of Optic Disc, Unspecified Eye
Congenital Coloboma of Optic Disc
Optic Disk Coloboma
Colon
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Coloboma of Optic Nerve, also known as coloboma of optic disc, is related to papillorenal syndrome and hypertelorism. An important gene associated with Coloboma of Optic Nerve is PAX6 (Paired Box 6), and among its related pathways/superpathways is Mesodermal commitment pathway. Affiliated tissues include colon and eye, and related phenotypes are abnormality of retinal pigmentation and strabismus
Related ID:
MESH:C535970
ICD11:592278969

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
--
24
190
4

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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No data available

Related Drugs

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CAS Number
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Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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