Hereditary Inclusion Body Myopathy-Joint Contractures-Ophthalmoplegia Syndrome (IBM3)

Alias:
Hereditary Inclusion Body Myopathy Type 3
Inclusion Body Myopathy Type 3
Hibm3
Ibm3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hereditary Inclusion Body Myopathy-Joint Contractures-Ophthalmoplegia Syndrome, also known as hereditary inclusion body myopathy type 3, is related to congenital myopathy 6 with ophthalmoplegia and myopathy. An important gene associated with Hereditary Inclusion Body Myopathy-Joint Contractures-Ophthalmoplegia Syndrome is MYH2 (Myosin Heavy Chain 2).
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
<1/1000000
1
4
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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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Score
Mutations
No data available

Related Drugs

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CAS Number
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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
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IF
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