Aneurysm - osteoarthritis syndrome
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(Orphanet:284984)
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EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2
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(OMIM:615539)
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EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
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(OMIM:601001)
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Epidermolysis bullosa simplex, Dowling-Meara type
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(Orphanet:79396)
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Generalized dominant dystrophic epidermolysis bullosa
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(Orphanet:231568)
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Junctional epidermolysis bullosa - pyloric atresia
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(Orphanet:79403)
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Junctional epidermolysis bullosa, Herlitz type
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(Orphanet:79404)
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Localized epidermolysis bullosa simplex
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(Orphanet:79400)
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Spondyloepimetaphyseal dysplasia with joint laxity
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(Orphanet:93359)
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