Diseases

Name Orphanumber Description XREF(s)
SURF1-related Charcot-Marie-Tooth disease type 4 391351 A subtype of Charcot-Marie-Tooth… Orphanet, ICD-10, OMIM
Susceptibility to adverse reaction due to mercaptopurine 284113 Orphanet
Susceptibility to infection due to TYK2 deficiency 331226 Susceptibility to infection due to TYK2… Orphanet, ICD-10, OMIM
Susceptibility to infection in immunocompromised patient 449306 Orphanet
Susceptibility to localized juvenile periodontitis 447740 A rare functional neutrophil defect… Orphanet
Susceptibility/resistance to HIV infection 319269 Orphanet
Susceptibility to respiratory infections associated with CD8alpha chain mutation 169085 A rare primary immunodeficiency due to… Orphanet, ICD-10, OMIM
Susceptibility to viral and mycobacterial infections due to STAT1 deficiency 391311 A rare, genetic, primary… Orphanet, ICD-10, OMIM
Sweet syndrome 3243 A rare inflammatory disease… Orphanet, ICD-10, OMIM, MeSH, MedDRA
Symptomatic form of Coffin-Lowry syndrome in female carriers 276630 A rare X-linked syndromic intellectual… Orphanet
Symptomatic form of fragile X syndrome in female carriers 449291 A rare genetic disease characterized by… Orphanet, ICD-10, OMIM
Symptomatic form of hemochromatosis type 1 465508 Symptomatic form of hemochromatosis…
Symptomatic form of HFE-related hemochromatosis 465508 Symptomatic form of hemochromatosis… Orphanet, OMIM, ICD-10
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers 206546 A rare, genetic muscular dystrophy… Orphanet
Synaptic congenital myasthenic syndromes 98915 Orphanet, ICD-10, OMIM
Syndactyly type 3 93404 A rare non-syndromic syndactyly… Orphanet, MeSH, ICD-10, OMIM
Syndactyly type 4 93405 A rare non-syndromic syndactyly… Orphanet, ICD-10, OMIM
Syndactyly type 5 93406 A rare non-syndromic syndactyly… Orphanet, MeSH, ICD-10, ICD-10, OMIM
Syndactyly type 8 2498 A rare non-syndromic syndactyly… Orphanet, ICD-10, OMIM
Syndactyly-telecanthus-anogenital and renal malformations syndrome 140952 A rare malformation syndrome… Orphanet, OMIM, ICD-10
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