Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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restrictive cardiomyopathy 2 |
familial restrictive cardiomyopathy 2; RCM2
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A restrictive cardiomyopathy that has_material_bas..[+]
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distal arthrogryposis type 2B |
Freeman-Sheldon syndrome variant; DA2B; Sheldon-Ha..
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A distal arthrogryposis characterized by contractu..[+]
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ectodermal dysplasia 8 |
Fried's tooth and nail syndrome; ECTD8; ectodermal..
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An ectodermal dysplasia characterized by hypotrich..[+]
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X-linked cardiac valvular dysplasia |
FLNA-related X-linked myxomatous valvular dysplasi..
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A heart valve disease characterized by multivalvul..[+]
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otopalatodigital syndrome type 2 |
faciopalatoosseous syndrome; Andre syndrome; OPD I..
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An otopalatodigital syndrome spectrum disorder cha..[+]
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Uruguay faciocardiomusculoskeletal syndrome |
FCMSU
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A syndrome characterized by distinctive facial app..[+]
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spondyloepiphyseal dysplasia-brachydactyly and distinctive speech |
Fantasy Island syndrome; SED-BDS; SED-brachydactyl..
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A spondyloepiphyseal dysplasia characterized by sp..[+]
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