Diseases

Name Orphanumber Description XREF(s)
Systemic mastocytosis with associated hematologic neoplasm 98849 An advanced form of systemic… Orphanet, ICD-10
Systemic primary carnitine deficiency 158 A disorder of carnitine cycle and… Orphanet, OMIM, ICD-10
Systemic-onset juvenile idiopathic arthritis 85414 A rare pediatric rheumatological… Orphanet, OMIM, ICD-10, OMIM
Tacrolimus dose selection 241043 Orphanet
Takayasu arteritis 3287 A rare predominantly large-vessel… Orphanet, MedDRA, OMIM, ICD-10, MeSH
Tall stature-intellectual disability-renal anomalies syndrome 500095 A rare overgrowth syndrome associated… Orphanet, ICD-10, OMIM
Tall stature-long halluces-multiple extra-epiphyses syndrome 329191 Tall stature-scoliosis-macrodactyly of… Orphanet, OMIM, ICD-10
Tangier disease 31150 A rare, genetic neurometabolic disease… Orphanet, MedDRA, ICD-10, MeSH, OMIM
TARP syndrome 2886 TARP syndrome is a rare developmental… Orphanet, MeSH, OMIM, ICD-10
Tarsal-carpal coalition syndrome 1412 Tarsal-carpal coalition syndrome is… Orphanet, OMIM, OMIM, MeSH, ICD-10
Tatton-Brown-Rahman syndrome 404443 A rare multiple congenital anomalies… Orphanet, ICD-10, OMIM
Tay-Sachs disease, B1 variant 309239 Orphanet, ICD-10
Tay-Sachs disease, B variant, adult form 309192 Orphanet, ICD-10
Tay-Sachs disease, B variant, infantile form 309178 Orphanet, ICD-10
Tay-Sachs disease, B variant, juvenile form 309185 Orphanet, ICD-10
TBCK-related intellectual disability syndrome 488632 TBCK-related intellectual disability… Orphanet, ICD-10, OMIM
T-cell immunodeficiency with epidermodysplasia verruciformis 324294 A rare primary immunodeficiency… Orphanet, OMIM, ICD-10
T-cell large granular lymphocyte leukemia 86872 T-cell large granular lymphocyte… Orphanet, ICD-10, MeSH, MedDRA
TCR-alpha-beta-positive T-cell deficiency 397959 A rare, hereditary primary… Orphanet, OMIM, ICD-10
Telangiectasia macularis eruptiva perstans 90389 Orphanet, MedDRA, ICD-10
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