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Angiokeratoma Circumscriptum

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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Angiokeratoma Circumscriptum is related to angiokeratoma and capillary lymphangioma. An important gene associated with Angiokeratoma Circumscriptum is SYNGAP1 (Synaptic Ras GTPase Activating Protein 1), and among its related pathways/superpathways are Signal Transduction and RAF/MAP kinase cascade. Affiliated tissues include skin and tongue, and related phenotypes are nervous system and homeostasis/metabolism
Related ID：
MALACARDS：ANG007

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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14
147
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ANG007

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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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
Journal
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IF
No Data Found!
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