From: MedGen
The NCBI Handbook [Internet]. 2nd edition.
Bethesda (MD): National Center for Biotechnology Information (US); 2013-.
NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.
Figure 2.
Clinical feature section in MedGen. Clinical features are reported under top nodes established by HPO (top nodes are immediate children of the HPO term Phenotypic abnormality - HP:0003812). Each node can be expanded or collapsed to improve viewing of all items. A click on any item in the list displays a pop-up window with the definition of that feature and links to either the full report in MedGen for that feature (Feature record) or other conditions reported to have that feature (Search on this feature).