Table 5.
Set of concepts that are more specific in the ontology induced from the literature than in the curated ontology
| HPO concept | Correct annotation? | Recommendation |
|---|---|---|
| Abnormal emotion/affect behavior | Yes | Yes |
| Chronic diarrhea | Yes | Yes |
| Congenital cataract | No | Revise synonyms |
| Gait disturbance | Yes | Yes |
| Global developmental delay | Yes | Yes |
| Juvenile cataract | Yes | Yes |
| Lower limb spasticity | Yes | Yes |
| Paraplegia/paraparesis | Yes | Yes |
| Parkinsonism | Yes | Yes |
| Peripheral demyelination | No | Revise synonyms |
| Polyneuropathy | Yes | Yes |
| Progressive neurologic deterioration | Yes | Yes |
| Spastic gait | Yes | Yes |