Ehlers-Danlos Syndrome, Dermatosparaxis Type (EDSDERMS)

Alias:
Dermatosparaxis
Ehlers-Danlos Syndrome, Type Vii, Autosomal Recessive
Ehlers-Danlos Syndrome Dermatosparaxis Type
Dermatosparaxis Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome Type 7c
Human Dermatosparaxis Eds Viic
Dermatosparaxis Eds
Edsderms
Eds Viic
Eds7c
Deds
Ehlers-Danlos Syndrome, Type Viic
Ehlers-Danlos Syndrome 7c
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ehlers-Danlos Syndrome, Dermatosparaxis Type, also known as dermatosparaxis, is related to ehlers-danlos syndrome and connective tissue disease, and has symptoms including swelling of eyelid An important gene associated with Ehlers-Danlos Syndrome, Dermatosparaxis Type is ADAMTS2 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 2), and among its related pathways/superpathways are Infectious disease and Metabolism of proteins. Affiliated tissues include skin and bone, and related phenotypes are aphasia and osteopenia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
8
46
23

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

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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