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1 | What is (are) sitosterolemia ? |
1 | What is (are) Sjgren syndrome ? |
1 | What is (are) Sjgren-Larsson syndrome ? |
1 | What is (are) SLC4A1-associated distal renal tubular acidosis ? |
1 | What is (are) small fiber neuropathy ? |
1 | What is (are) Smith-Lemli-Opitz syndrome ? |
1 | What is (are) Smith-Magenis syndrome ? |
1 | What is (are) Snyder-Robinson syndrome ? |
1 | What is (are) SOST-related sclerosing bone dysplasia ? |
1 | What is (are) Sotos syndrome ? |
1 | What is (are) SOX2 anophthalmia syndrome ? |
1 | What is (are) spastic paraplegia type 11 ? |
1 | What is (are) spastic paraplegia type 15 ? |
1 | What is (are) spastic paraplegia type 2 ? |
1 | What is (are) spastic paraplegia type 31 ? |
1 | What is (are) spastic paraplegia type 3A ? |
1 | What is (are) spastic paraplegia type 4 ? |
1 | What is (are) spastic paraplegia type 7 ? |
1 | What is (are) spastic paraplegia type 8 ? |
1 | What is (are) spina bifida ? |
1 | What is (are) spinal and bulbar muscular atrophy ? |
1 | What is (are) spinal muscular atrophy ? |
1 | What is (are) spinal muscular atrophy with progressive myoclonic epilepsy ? |
1 | What is (are) spinal muscular atrophy with respiratory distress type 1 ? |
1 | What is (are) spinocerebellar ataxia type 1 ? |
1 | What is (are) spinocerebellar ataxia type 2 ? |
1 | What is (are) spinocerebellar ataxia type 3 ? |
1 | What is (are) spinocerebellar ataxia type 36 ? |
1 | What is (are) spinocerebellar ataxia type 6 ? |
1 | What is (are) spondylocarpotarsal synostosis syndrome ? |
1 | What is (are) spondylocostal dysostosis ? |
1 | What is (are) spondyloenchondrodysplasia with immune dysregulation ? |
1 | What is (are) spondyloepimetaphyseal dysplasia, Strudwick type ? |
1 | What is (are) spondyloepiphyseal dysplasia congenita ? |
1 | What is (are) spondyloperipheral dysplasia ? |
1 | What is (are) spondylothoracic dysostosis ? |
1 | What is (are) sporadic hemiplegic migraine ? |
1 | What is (are) Stargardt macular degeneration ? |
1 | What is (are) steatocystoma multiplex ? |
1 | What is (are) Stevens-Johnson syndrome/toxic epidermal necrolysis ? |
1 | What is (are) Stickler syndrome ? |
1 | What is (are) STING-associated vasculopathy with onset in infancy ? |
1 | What is (are) Stormorken syndrome ? |
1 | What is (are) Stve-Wiedemann syndrome ? |
1 | What is (are) succinate-CoA ligase deficiency ? |
1 | What is (are) succinic semialdehyde dehydrogenase deficiency ? |
1 | What is (are) succinyl-CoA:3-ketoacid CoA transferase deficiency ? |
1 | What is (are) sudden infant death with dysgenesis of the testes syndrome ? |
1 | What is (are) supravalvular aortic stenosis ? |
1 | What is (are) surfactant dysfunction ? |
1 | What is (are) Swyer syndrome ? |
1 | What is (are) SYNGAP1-related intellectual disability ? |
1 | What is (are) systemic lupus erythematosus ? |
1 | What is (are) systemic scleroderma ? |
1 | What is (are) T-cell immunodeficiency, congenital alopecia, and nail dystrophy ? |
1 | What is (are) Tangier disease ? |
1 | What is (are) tarsal-carpal coalition syndrome ? |
1 | What is (are) task-specific focal dystonia ? |
1 | What is (are) Tay-Sachs disease ? |
1 | What is (are) tetra-amelia syndrome ? |
1 | What is (are) tetrahydrobiopterin deficiency ? |
1 | What is (are) tetrasomy 18p ? |
1 | What is (are) thanatophoric dysplasia ? |
1 | What is (are) thiamine-responsive megaloblastic anemia syndrome ? |
1 | What is (are) thiopurine S-methyltransferase deficiency ? |
1 | What is (are) thrombocytopenia-absent radius syndrome ? |
1 | What is (are) thrombotic thrombocytopenic purpura ? |
1 | What is (are) tibial muscular dystrophy ? |
1 | What is (are) Tietz syndrome ? |
1 | What is (are) Timothy syndrome ? |
1 | What is (are) TK2-related mitochondrial DNA depletion syndrome, myopathic form ? |
1 | What is (are) Tourette syndrome ? |
1 | What is (are) Townes-Brocks Syndrome ? |
1 | What is (are) transthyretin amyloidosis ? |
1 | What is (are) Treacher Collins syndrome ? |
1 | What is (are) trichohepatoenteric syndrome ? |
1 | What is (are) trichothiodystrophy ? |
1 | What is (are) trimethylaminuria ? |
1 | What is (are) triosephosphate isomerase deficiency ? |
1 | What is (are) triple A syndrome ? |
1 | What is (are) triple X syndrome ? |
1 | What is (are) trisomy 13 ? |
1 | What is (are) trisomy 18 ? |
1 | What is (are) Troyer syndrome ? |
1 | What is (are) tuberous sclerosis complex ? |
1 | What is (are) tubular aggregate myopathy ? |
1 | What is (are) tumor necrosis factor receptor-associated periodic syndrome ? |
1 | What is (are) Turner syndrome ? |
1 | What is (are) type 1 diabetes ? |
1 | What is (are) type A insulin resistance syndrome ? |
1 | What is (are) tyrosine hydroxylase deficiency ? |
1 | What is (are) tyrosinemia ? |
1 | What is (are) ulcerative colitis ? |
1 | What is (are) Unverricht-Lundborg disease ? |
1 | What is (are) uromodulin-associated kidney disease ? |
1 | What is (are) Usher syndrome ? |
1 | What is (are) UV-sensitive syndrome ? |
1 | What is (are) VACTERL association ? |
1 | What is (are) van der Woude syndrome ? |
1 | What is (are) very long-chain acyl-CoA dehydrogenase deficiency ? |
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