Ehlers-Danlos Syndrome, Classic-Like (EDSCLL)

Alias:
Ehlers-Danlos Syndrome Due to Tenascin-X Deficiency
Tnx Deficiency
Classical-Like Ehlers-Danlos Syndrome Type 1
Eds Due to Tnx Deficiency
Classical-Like Eds Type 1
Cleds Type 1
Edscll
Ehlers-Danlos Syndrome, Autosomal Recessive, Due to Tenascin X Deficiency
Ehlers-Danlos Syndrome Caused by Tenascin-X Deficiency
Ehlers-Danlos Syndrome Due to Tenascin X Deficiency
Ehlers-Danlos-Like Syndrome, Classic-Like Type
Ehlers-Danlos Due to Tenascin X Deficiency
Ehlers-Danlos Syndrome, Classic-Like, 1
Ehlers-Danlos Syndrome Classic-Like 1
Tenascin-X Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ehlers-Danlos Syndrome, Classic-Like, also known as ehlers-danlos syndrome due to tenascin-x deficiency, is related to ehlers-danlos syndrome and ehlers-danlos syndrome, classic-like, 2, and has symptoms including arthralgia An important gene associated with Ehlers-Danlos Syndrome, Classic-Like is TNXB (Tenascin XB). Affiliated tissues include skin and bone, and related phenotypes are joint hyperflexibility and hypotonia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
7
14

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

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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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