Ectopia Lentis Et Pupillae (ECTOLP)

Alias:
Ectopia Lentis with Ectopia of Pupil
Ectolp
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ectopia Lentis Et Pupillae, also known as ectopia lentis with ectopia of pupil, is related to isolated ectopia lentis and ectopia lentis 2, isolated, autosomal recessive. An important gene associated with Ectopia Lentis Et Pupillae is ADAMTSL4 (ADAMTS Like 4). Affiliated tissues include eye and skin, and related phenotypes are ectopia pupillae and ectopia lentis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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2
8
10

Medical Symptom

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

Gene & Mutation

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Mutations
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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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