Table 2.

Top ten most frequently associated groups of novel phenotypes in the SMP

Phenotype	Inclusion
Pain (HP:0012531)	0.06
Functional abnormality of the gastrointestinal tract (HP:0012719)	0.05
Abdominal symptom (HP:0011458)	0.03
Abnormality of reproductive system physiology (HP:0000080)	0.03
Abnormality of blood circulation (HP:0011028)	0.03
Internal haemorrhage (HP:0011029)	0.03
Abnormal cell morphology (HP:0025461)	0.02
Abnormal emotion/affect behaviour (HP:0100851)	0.02
Vascular skin abnormality (HP:0011276)	0.02
Abnormal myeloid cell morphology (HP:0020047)	0.02

Proportion of novel phenotypes refers to the proportion of phenotypes in the SMP dataset that were not included in the BDLP for the 304 matched diseases. For example, 6% of all novel phenotype associations were either pain or more specific kinds of pain (e.g. abdominal pain). Groups of phenotypes with low information content below 0.6 Resnik, were excluded.