Table 6.

Set of concepts included in the curated ontology and not in the one induced from the literature

HPO concept	Is it in the abstracts?	Reason for the omission
Abnormality of central somatosensory evoked potentials	Yes	A long series of words
Abnormality of the dentate nucleus	Yes	Different name
Abnormality of the periventricular white matter	Yes	Different name
Angina pectoris	No
Cerebral calcification	Yes	Different name
Delusions	No
Developmental regression	No	Different concept
Electroencephalography with generalized slow activity	Yes	A long series of words
EMG: axonal abnormality	Yes	Different name
Hallucinations	No
Limitation of joint mobility	No
Lipomatous tumor	Yes	Different name
Malabsorption	No
Myocardial infarction	No
Respiratory insufficiency	No
Xanthelasma	No