Annular epidermolytic ichthyosis
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(Orphanet:281139)
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BRACHYDACTYLY, TYPE A3
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(OMIM:112700)
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BRACHYDACTYLY, TYPE D
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(OMIM:113200)
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Brachydactyly type A4
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(Orphanet:93394)
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CHONDROCALCINOSIS DUE TO APATITE CRYSTAL DEPOSITION
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(OMIM:118610)
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COMBINED INFLAMMATORY AND IMMUNOLOGIC DEFECT
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(OMIM:216920)
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Cartilage-hair hypoplasia
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(Orphanet:175)
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Dyschondrosteosis - nephritis
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(Orphanet:1765)
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Exfoliative ichthyosis
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(Orphanet:289586)
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IMAGe syndrome
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(Orphanet:85173)
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OSTEOGENESIS IMPERFECTA, TYPE XIII
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(OMIM:614856)
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Pseudoachondroplasia
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(Orphanet:750)
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SJOGREN-LARSSON-LIKE ICHTHYOSIS WITHOUT CNS OR EYE INVOLVEMENT
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(OMIM:270220)
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Skin fragility-woolly hair-palmoplantar keratoderma syndrome
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(Orphanet:293165)
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