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Isolated Microphthalmia

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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Isolated Microphthalmia is related to microphthalmia, isolated 6 and isolated microphthalmia 3. An important gene associated with Isolated Microphthalmia is MCOP1 (Microphthalmia, Autosomal Recessive), and among its related pathways/superpathways is Kallmann syndrome. Affiliated tissues include eye, and related phenotypes are Negative genetic interaction between BLM-/- and BLM+/+ and pigmentation
Related ID：
MALACARDS：ISL020

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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14
138
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ISL020

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
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Related Drugs

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CAS Number
Status
Phase
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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PMID
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IF
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