Table 1.
Details of MPO to UMLS CUI mapping using MetaMap, a software program that takes free text and generates a list of potentially matching concepts with scores (ranging from 0 to 1000 with 1000 being the best score) from the UMLS metathesaurus
| Root MPO ID | Root MPO term | Number of children terms | Percentage of children terms mapped | Percentage of mapped MPO terms with MetaMap scores (1000 = perfect score) |
|||
|---|---|---|---|---|---|---|---|
| 1000 | 800–999 | 600–799 | <600 | ||||
| MP:0003631 | Nervous system phenotype | 1027 | 50 | 34 | 12 | 4 | 0 |
| MP:0005387 | Immune system phenotype | 913 | 42 | 28 | 10 | 4 | 0 |
| MP:0005389 | Reproductive system phenotype | 549 | 53 | 38 | 10 | 5 | 0 |
| MP:0005376 | Homeostasis/metabolism phenotype | 450 | 42 | 22 | 7 | 13 | 0 |
| MP:0005385 | Cardiovascular system phenotype | 434 | 66 | 44 | 19 | 3 | 0 |
| MP:0005381 | Digestive/alimentary phenotype | 369 | 63 | 44 | 14 | 4 | 0 |
| MP:0005382 | Craniofacial phenotype | 352 | 59 | 45 | 11 | 1 | 2 |
| MP:0005386 | Behavior/neurological phenotype | 282 | 62 | 31 | 28 | 2 | 0 |
| MP:0005393 | Skin/coat/nails phenotype | 261 | 53 | 33 | 17 | 3 | 0 |
| MP:0005391 | Vision/eye phenotype | 243 | 72 | 55 | 15 | 2 | 0 |
| MP:0005390 | Skeleton phenotype | 237 | 56 | 39 | 14 | 3 | 0 |
| MP:0005377 | Hearing/vestibular/ear phenotype | 222 | 46 | 26 | 13 | 5 | 3 |
| MP:0005367 | Renal/urinary system phenotype | 191 | 64 | 44 | 15 | 5 | 1 |
| MP:0002006 | Tumorigenesis | 174 | 91 | 75 | 16 | 1 | 0 |
| MP:0005388 | Respiratory system phenotype | 170 | 61 | 45 | 12 | 4 | 0 |
| MP:0005380 | Embryogenesis phenotype | 168 | 35 | 17 | 12 | 7 | 0 |
| MP:0005371 | Limbs/digits/tail phenotype | 163 | 55 | 36 | 17 | 3 | 0 |
| MP:0005369 | Muscle phenotype | 137 | 55 | 26 | 27 | 1 | 0 |
| MP:0005384 | Cellular phenotype | 116 | 34 | 19 | 14 | 1 | 0 |
| MP:0005397 | Hematopoietic system phenotype | 103 | 64 | 44 | 13 | 8 | 0 |
| MP:0005370 | Liver/biliary system phenotype | 91 | 71 | 60 | 10 | 1 | 0 |
| MP:0005375 | Adipose tissue phenotype | 90 | 34 | 16 | 16 | 3 | 0 |
| MP:0005379 | Endocrine/exocrine gland phenotype | 85 | 59 | 51 | 6 | 2 | 0 |
| MP:0005378 | Growth/size phenotype | 71 | 62 | 38 | 24 | 0 | 0 |
| MP:0005394 | Taste/olfaction phenotype | 15 | 73 | 33 | 0 | 40 | 0 |
| MP:0005392 | Touch/vibrissae phenotype | 13 | 92 | 8 | 46 | 38 | 0 |
| MP:0001186 | Pigmentation phenotype | 12 | 75 | 42 | 33 | 0 | 0 |
| MP:0005374 | Lethality-prenatal/perinatal | 11 | 82 | 18 | 64 | 0 | 0 |
| MP:0005395 | Other phenotype | 10 | 40 | 40 | 0 | 0 | 0 |
| MP:0005372 | Life span-post-weaning/aging | 10 | 30 | 20 | 10 | 0 | 0 |
| MP:0002873 | Normal phenotype | 5 | 0 | 0 | 0 | 0 | 0 |
| MP:0005373 | Lethality-postnatal | 3 | 67 | 33 | 0 | 33 | 0 |
| MP:0003012 | No phenotypic analysis | 1 | 0 | 0 | 0 | 0 | 0 |