Table 1 Most frequent lexico-syntactic profiles of the 10,631 HPO terms not involved in a complete lexical mapping
Lexico-syntactic profile | Terms | (%) | Examples of HPO terms |
|---|---|---|---|
[MOD—HEAD] | 2478 | (23 %) | Oral cleft, Aplastic clavicles, Abnormal philtrum |
[MOD—MOD—HEAD] | 1811 | (17 %) | Asymmetric limb shortening, Multicystic kidney dysplasia |
[HEAD] [PREP—DET—HEAD] | 536 | (5 %) | Abnormality of the philtrum, Polydactyly of the foot |
[MOD—MOD—MOD—HEAD] | 478 | (4 %) | Small proximal femoral epiphyses, Increased cup disc ratio |
[HEAD] [PREP—MOD—HEAD] | 386 | (4 %) | Delay in motor development, Abnormality of renal excretion |
[MOD—HEAD] [PREP—HEAD] | 321 | (3 %) | Hypertensive disorder of pregnancy, Coronal cleft of vertebrae |
[HEAD] [PREP—HEAD] | 259 | (2 %) | Abnormality of upper lip, Tremor at rest, Tetralogy of Fallot |
[HEAD] | 218 | (2 %) | Gastroschisis, Polydactyly, Pre-eclampsia |
[HEAD] [PREP—DET—MOD—HEAD] | 209 | (2 %) | Abnormality of the paralabial region, Fragmentation of the metacarpal epiphyses |
[MOD—HEAD] [PREP—DET—HEAD] | 202 | (2 %) | Downturned corners of the mouth, IgA deposition in the glomerulus |
top 10 | 6898 | (65 %) |