Stickler Syndrome, Type Ii (STL2)

Alias:
Stickler Syndrome Type 2
Stickler Syndrome 2
Stl2
Stickler Syndrome, Beaded Vitreous Type
Stickler Syndrome Beaded Vitreous Type
Stickler Syndrome, Vitreous Type 2
Stickler Syndrome Vitreous Type 2
Stickler Syndrome, Type 2
Stickler Syndrome Type Ii
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Stickler Syndrome, Type Ii, also known as stickler syndrome type 2, is related to marshall syndrome and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Stickler Syndrome, Type Ii is COL11A1 (Collagen Type XI Alpha 1 Chain). Affiliated tissues include bone and eye, and related phenotypes are cataract and corneal opacity
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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1
4
15

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
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IF
No Data Found!
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