HPO codes in the PenetranceValueSet are incorrect.
The value set (Last updated on 3/10/2026, 6:30:09 PM) contains the following:
| Code |
Display |
| HP:0003829 |
Incomplete penetrance |
| HP:0003828 |
Variable penetrance |
| HP:0025169 |
Complete penetrance |
| HP:0003831 |
Age-dependent penetrance |
HP:0025169 is Left ventricular systolic dysfunction
HP:0003828 is Variable expressivity and does not apply to individuals according to the description.
My recommendation: Use HPO terms that are part of the "Inheritance qualifier (HP:0034335)" available at the HPO browser
They are very nicely defined:
| Code |
Display |
| Typified by incomplete penetrance |
HP:0003829 |
| Typified by high penetrance |
HP:4000158 |
| Typified by moderate penetrance |
HP:4000159 |
| Typified by low penetrance |
HP:4000160 |
| Typified by complete penetrance |
HP:0034950 |
HPO codes in the PenetranceValueSet are incorrect.
The value set (Last updated on 3/10/2026, 6:30:09 PM) contains the following:
HP:0025169 is Left ventricular systolic dysfunction
HP:0003828 is Variable expressivity and does not apply to individuals according to the description.
My recommendation: Use HPO terms that are part of the "Inheritance qualifier (HP:0034335)" available at the HPO browser
They are very nicely defined: