Disease groups
1,086 disease groups whose chain reached a human disease, by OMIA group number.
| OMIA group | Name | Species | The chain reached | Best score |
|---|---|---|---|---|
| 809 | Polycythemia | 4 | Drug | 88.2 |
| 810 | Polydactyly | 19 | Target evidence | 62.2 |
| 815 | Porphyria, unclassified | 2 | Human disease | 27.0 |
| 817 | Portosystemic shunt | 7 | Human disease | 15.0 |
| 819 | Prekallikrein deficiency | 2 | Drug | 64.9 |
| 821 | Hyperoxaluria, primary, type II (Oxalosis II) | 1 | Human disease | 29.0 |
| 823 | Prognathism | 8 | Human disease | 15.0 |
| 827 | Myeloencephalopathy, progressive degenerative, PNPLA8-related | 2 | Target evidence | 57.6 |
| 831 | Retinal atrophy, progressive, X-linked, type 1 | 1 | Target evidence | 53.9 |
| 835 | Protein C deficiency | 1 | Human disease | 9.0 |
| 836 | Protoporphyria | 2 | Human gene | 37.0 |
| 837 | Vitamin D-deficiency rickets, type IA | 3 | Target evidence | 68.7 |
| 841 | Pulmonary hypertension | 8 | Drug | 63.9 |
| 842 | Pulmonary stenosis | 1 | Human disease | 9.0 |
| 843 | Pyloric stenosis | 1 | Human disease | 6.5 |
| 844 | Pyruvate kinase deficiency of erythrocyte | 2 | Drug | 87.1 |
| 853 | Reduced glutathione deficiency due to GCS deficiency | 1 | Human disease | 9.0 |
| 854 | Renal hypoplasia | 1 | Human disease | 6.5 |
| 855 | Renal hypoplasia, unilateral | 1 | Human disease | 6.5 |
| 856 | Renal disease | 1 | Human disease | 31.5 |
| 858 | Renal hypoplasia, bilateral | 2 | Human disease | 9.5 |
| 859 | Renal insufficiency | 1 | Human disease | 31.5 |
| 866 | Retinal degeneration | 4 | Human disease | 22.5 |
| 869 | Retinal dystrophy | 2 | Human disease | 27.0 |
| 878 | Cardiomyopathy, arrhythmogenic right ventricular | 3 | Human disease | 15.0 |
| 881 | Retinal atrophy - Rod-cone dysplasia, CRX related | 2 | Target evidence | 59.0 |
| 882 | Retinal atrophy - Rod-cone dysplasia 1 | 1 | Human gene | 29.0 |
| 888 | Sarcoid | 5 | Human disease | 15.0 |
| 891 | Scoliosis | 3 | Human disease | 15.0 |
| 899 | Severe combined immunodeficiency disease, X-linked | 3 | Drug | 72.4 |
| 901 | XX difference of sexual development, generic | 13 | Human disease | 15.0 |
| 903 | Shaker | 1 | Human disease | 9.0 |
| 924 | Sodium-potassium-ATPase, high activity | 1 | Human disease | 9.0 |
| 928 | Spastic paresis | 2 | Human disease | 12.0 |
| 933 | Spina bifida | 6 | Human disease | 15.0 |
| 934 | Spina bifida occulta | 1 | Human disease | 6.5 |
| 938 | Spinal dysraphism | 2 | Target evidence | 34.8 |
| 939 | Spinal muscular atrophy | 3 | Human disease | 40.0 |
| 942 | Split hand | 1 | Human disease | 6.5 |
| 944 | Spongiform encephalopathy, susceptibility/resistance to | 58 | Target evidence | 48.7 |
| 947 | Stenosis, spinal | 2 | Human disease | 34.5 |
| 949 | Strabismus | 3 | Human disease | 12.0 |
| 952 | Subaortic stenosis | 4 | Human disease | 15.0 |
| 960 | Supravalvular aortic stenosis | 1 | Human disease | 6.5 |
| 963 | Syndactyly | 9 | Target evidence | 64.0 |
| 965 | Syringomyelia | 5 | Human disease | 15.0 |
| 968 | Systemic lupus erythematosus | 2 | Human disease | 37.0 |
| 969 | Tachycardia | 2 | Human disease | 12.0 |
| 975 | Tail, short | 5 | Target evidence | 54.3 |
| 978 | Orofaciodigital syndrome, C2CD3-related | 1 | Target evidence | 57.1 |