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PedAM

Pediatric Disease Annotations & Medicines




Disease osteopetrosis
Phenotype C0013575|ectodermal dysplasia
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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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