Autosomal recessive hyper-IgE syndrome
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(Orphanet:169446)
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Combined immunodeficiency due to DOCK8 deficiency
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(Orphanet:217390)
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Familial atrial myxoma
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(Orphanet:615)
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Hereditary hemorrhagic telangiectasia
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(Orphanet:774)
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Retinal ischemic syndrome - digestive tract small vessel hyalinosis - diffuse cerebral calcifications
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(Orphanet:3018)
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TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER
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(OMIM:187300)
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TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
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(OMIM:600376)
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TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 4
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(OMIM:610655)
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Tako-Tsubo cardiomyopathy
|
(Orphanet:66529)
|