eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | osteopetrosis |
| Comorbidity | 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. |
Page: 1