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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease ectodermal dysplasias
Comorbidity C0029454|osteopetrosis
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PubMedID- 20345847 The third category is composed of hypomorphic mutations involving the stop codon causing ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis and lymphedema (ol-eda-id) in males.

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