| Identifier | Name |
|---|---|
| 9908651 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency |
| 9909468 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency |
| 9916726 | 3-hydroxyisobutryl-CoA hydrolase deficiency |
| 9909434 | 3-methylcrotonyl-CoA carboxylase deficiency |
| 9914268 | 3-methylglutaconic aciduria |
| 5483113 | 46 XY gonadal dysgenesis |
| 9660762 | Addison's disease |
| 8863054 | Alzheimer's disease |
| 3322973 | Amyloidosis |
| 9608424 | Arrhythmia |
| 2318444 | Bannayan-Riley-Ruvalcaba syndrome |
| 9632204 | Barrett's esophagus |
| 5623577 | Bartter disease |
| 2029860 | Beare-Stevenson cutis gyrata syndrome |
| 9659865 | Behcet's disease |
| 2318578 | Burkitt lymphoma |
| 9650398 | C1 inhibitor deficiency |
| 9683912 | COVID-19 |
| 9681296 | Castleman disease |
| 9683915 | Coronavirus infectious disease |
| 9651116 | Costello syndrome |
| 2317438 | Cowden syndrome |
| 5604972 | Crigler-Najjar syndrome |
| 9660768 | Crohn's disease |
| 1625203 | Crouzon syndrome |
| 5679002 | Dubin-Johnson syndrome |
| 9717022 | Duchenne muscular dystrophy |
| 3656228 | Ehlers-Danlos syndrome |
| 9704435 | Fanconi anemia |
| 3656325 | Ferguson-Smith tumor |
| 5605119 | Gilbert syndrome |
| 9692567 | Gilles de la Tourette syndrome |
| 5623757 | Gitelman syndrome |
| 5659739 | Hartnup disease |
| 9660910 | Hodgkin's lymphoma |
| 9627234 | Horner's syndrome |
| 1660559 | Human immunodeficiency virus infectious disease |
| 9944973 | Kabuki syndrome |
| 9651118 | LEOPARD syndrome |
| 3656235 | Larsen syndrome |
| 2471664 | Leber congenital amaurosis |
| 9707429 | Lennox-Gastaut syndrome |
| 9734170 | Lesch-Nyhan syndrome |
| 9726249 | Li-Fraumeni syndrome |
| 9660891 | Loeffler syndrome |
| 9632554 | Merkel cell carcinoma |
| 9955536 | N-acetylglutamate synthase deficiency |
| 6802289 | Noonan syndrome |
| 9717832 | Paget's disease of bone |
| 9628786 | Parkinson's disease |
| 2011836 | Pfeiffer syndrome |
| 9614133 | Prinzmetal angina |
| 9614111 | Raynaud disease |
| 9005548 | Rett syndrome |
| 5623555 | Rh deficiency syndrome |
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