Anterior Segment Dysgenesis 8 (ASGD8)

Alias:
Asgd8
Autosomal Recessive Anterior Segment Dysgenesis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Anterior Segment Dysgenesis 8, also known as asgd8, is related to anterior segment dysgenesis 1 and anterior segment dysgenesis 4. An important gene associated with Anterior Segment Dysgenesis 8 is CPAMD8 (C3 And PZP Like Alpha-2-Macroglobulin Domain Containing 8). Affiliated tissues include eye, and related phenotypes are persistent pupillary membrane and optic nerve dysplasia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
1
--
1

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
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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