Axial spondylometaphyseal dysplasia
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(Orphanet:168549)
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Czech dysplasia, metatarsal type
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(Orphanet:137678)
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GM1 gangliosidosis type 2
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(Orphanet:79256)
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GM1 gangliosidosis type 3
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(Orphanet:79257)
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Marshall syndrome
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(Orphanet:560)
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Metaphyseal chondrodysplasia, Schmid type
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(Orphanet:174)
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Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
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(Orphanet:93279)
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Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia
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(Orphanet:166029)
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Occipital horn syndrome
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(Orphanet:198)
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Spondyloepimetaphyseal dysplasia, Missouri type
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(Orphanet:93356)
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Spondyloepiphyseal dysplasia, Cantu type
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(Orphanet:163654)
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Spondylometaphyseal dysplasia - cone-rod dystrophy
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(Orphanet:85167)
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Spondyloperipheral dysplasia - short ulna
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(Orphanet:1856)
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Stickler syndrome type 3
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(Orphanet:166100)
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