Exostoses, Multiple, Type Ii (EXT2)

Alias:
Exostoses, Multiple, Type 2
Ext2
Hereditary Multiple Exostoses 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Exostoses, Multiple, Type Ii, also known as exostoses, multiple, type 2, is related to seizures, scoliosis, and macrocephaly/microcephaly syndrome and exostoses, multiple, type i. An important gene associated with Exostoses, Multiple, Type Ii is EXT2 (Exostosin Glycosyltransferase 2). Affiliated tissues include bone and breast, and related phenotypes are multiple exostoses and chondrosarcoma

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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1
2
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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
Function
Score
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
Year
IF
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