Disease | osteopetrosis |
Phenotype | C0013575|ectodermal dysplasia |
Sentences | 1 |
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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