FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term Ehlers-Danlos syndrome classic-like 2 ID (Ontology) DOID:0080732 (Human Disease)
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.
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 Ehlers-Danlos syndrome classic-like 2       1
 for disease ribbon | Ehlers-Danlos syndrome classic-like 2       1
 model of | Ehlers-Danlos syndrome classic-like 2       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
collagen disease                 |
 |__Ehlers-Danlos syndrome_______|
                                 Ehlers-Danlos syndrome classic-like 2  1 rec.
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Is a autosomal recessive disease
Ehlers-Danlos syndrome
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MIM:618000