Version: 8.0.0
Date: Tue Jan 28 2025
Ehlers-Danlos syndrome classic-like 2
DOID:0080732
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Ehlers-Danlos syndrome classic-like 2

Definition
An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations.
Synonyms
None
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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