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Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death

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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death is related to ataxia-telangiectasia and pneumocystosis. Affiliated tissues include skin.
Related ID：
MALACARDS：ATX046
OMIM：208910

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
ATX046

Medical Symptom

#
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

Name
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
Year
IF
No Data Found!
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