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Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies (IMD94)

Alias:
Imd94
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies, is also known as imd94. An important gene associated with Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies is IL6ST (Interleukin 6 Cytokine Family Signal Transducer). Affiliated tissues include lung and bone, and related phenotypes are macrocephaly and scoliosis
Related ID：
MALACARDS：IMM264
OMIM：619750
MESH：D007153

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
--
1
16
2
IMM264

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
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Gene & Mutation

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Gene
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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
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IF
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