Coloboma of Macula

Alias:
Coloboma
Congenital Ocular Coloboma
Microphthalmia, Isolated, with Coloboma
Ocular Coloboma
Hereditary Macular Coloboma
Uveoretinal Coloboma
Agenesis of Macula
Coloboma of Eye
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Coloboma of Macula, also known as coloboma, is related to coloboma, ocular, autosomal dominant and papillorenal syndrome. An important gene associated with Coloboma of Macula is ABCB6 (ATP Binding Cassette Subfamily B Member 6 (Langereis Blood Group)), and among its related pathways/superpathways are Ectoderm differentiation and Mesodermal commitment pathway. Affiliated tissues include eye and retina, and related phenotypes are macular coloboma and growth/size/body region
Related ID:
MESH:D003103
ICD11:366058642

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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