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 |
|---|---|---|---|---|
| 4 | Achondroplasia | 4 | Human disease | 37.5 |
| 6 | Achondroplasia, creeper | 1 | Target evidence | 56.5 |
| 8 | Acromegaly | 2 | Target evidence | 55.3 |
| 17 | Adrenal insufficiency, congenital, CYP11A1-related | 2 | Drug | 64.6 |
| 18 | Afibrinogenaemia or hypofibrinogenaemia | 3 | Human disease | 27.5 |
| 21 | Agenesis of corpus callosum | 4 | Human disease | 15.0 |
| 22 | Agnathia | 3 | Human disease | 15.0 |
| 27 | Allergic rhinitis | 1 | Human disease | 31.5 |
| 30 | Alopecia, generic | 9 | Human disease | 35.0 |
| 31 | Coat colour, dilution, MLPH-related | 7 | Target evidence | 58.2 |
| 32 | Alpha-1-antitrypsin deficiency | 3 | Human disease | 34.0 |
| 33 | Alzheimer-like disease, generic | 24 | Human disease | 15.0 |
| 37 | Amyloidosis, generic | 29 | Human disease | 40.0 |
| 38 | Amyloidosis, AA | 29 | Human disease | 32.5 |
| 39 | Amyloidosis, AL | 3 | Human disease | 37.5 |
| 40 | Amyloidosis, renal | 3 | Human disease | 12.5 |
| 41 | Diamond-Blackfan anaemia, generic | 1 | Human disease | 9.0 |
| 42 | Analphalipoproteinaemia, ABCA1-related | 2 | Drug | 65.9 |
| 44 | Anencephaly/Exencephaly | 7 | Human disease | 15.0 |
| 46 | Ankylosing spondylitis | 2 | Human disease | 12.0 |
| 48 | Anodontia | 3 | Human disease | 15.0 |
| 52 | Aortic stenosis, subvalvular | 1 | Human disease | 6.5 |
| 59 | Arachnomelia, SUOX-related | 1 | Target evidence | 58.1 |
| 60 | Argininaemia | 1 | Human disease | 34.0 |
| 61 | Arnold-Chiari malformation | 6 | Human disease | 15.0 |
| 64 | Arthritis | 4 | Human disease | 37.5 |
| 67 | Arthritis, rheumatoid | 1 | Human disease | 34.0 |
| 78 | Ataxia, cerebellar, neonatal, GRM1-related | 1 | Target evidence | 60.9 |
| 80 | Atherosclerosis | 6 | Human disease | 15.0 |
| 82 | Atopy | 2 | Human disease | 12.0 |
| 85 | Atresia coli | 3 | Human disease | 15.0 |
| 89 | Atrial septal defect | 6 | Human disease | 15.0 |
| 91 | Atrophic rhinitis | 2 | Human disease | 9.5 |
| 95 | Autoimmune thrombocytopenia | 2 | Human disease | 9.5 |
| 97 | Autoimmune thyroiditis, spontaneous | 2 | Human disease | 32.0 |
| 101 | Respiratory distress syndrome | 2 | Human disease | 34.0 |
| 105 | Osteoporosis | 1 | Human disease | 31.5 |
| 112 | Bleeding diathesis | 1 | Human disease | 31.5 |
| 113 | Bleeding disorder | 4 | Human disease | 37.5 |
| 146 | Brachydactyly | 4 | Human disease | 12.5 |
| 151 | Brachyspina | 1 | Target evidence | 58.0 |
| 155 | C3 deficiency | 3 | Drug | 69.5 |
| 156 | C8 deficiency | 1 | Human gene | 34.0 |
| 160 | Cardiomyopathy | 9 | Human disease | 37.5 |
| 162 | Cardiomyopathy, dilated | 11 | Drug | 53.6 |
| 170 | Cauda equina syndrome | 1 | Human disease | 26.5 |
| 172 | Central core myopathy | 2 | Human disease | 22.0 |
| 175 | Cerebellar abiotrophy | 9 | Human gene | 35.0 |
| 179 | Cerebellar hypoplasia | 6 | Human disease | 15.0 |
| 185 | Chediak-Higashi syndrome | 5 | Target evidence | 74.9 |