Table 2 Top ten most frequently associated groups of novel phenotypes in the SMP

From: Talking about diseases; developing a model of patient and public-prioritised disease phenotypes

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

  1. 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.
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