Search Results for: zcat_search_results

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Miller-Dieker lissencephaly syndrome

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metachromatic leukodystrophy, juvenile form

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nephronophthisis 1

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peroxisome biogenesis disorder type 3B

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familial thyroid dyshormonogenesis

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X-linked hypohidrotic ectodermal dysplasia

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axial spondylometaphyseal dysplasia

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acute hemorrhagic leukoencephalitis

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familial sick sinus syndrome

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congenital primary aphakia

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hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

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torsade-de-pointes syndrome with short coupling interval

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congenital diarrhea 7 with exudative enteropathy

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short stature due to GHSR deficiency

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motor developmental delay due to 14q32.2 paternally expressed gene defect

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14q32 duplication syndrome

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short bowel syndrome

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anisakiasis

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Smouldering systemic mastocytosis

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von Willebrand disease type 2B

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immunodeficiency due to a late component of complement deficiency

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T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency

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methimazole embryofetopathy

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holoprosencephaly

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asbestosis

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