Diseases

Name Orphanumber Description XREF(s)
Triple A syndrome 869 Triple A syndrome is a very rare… Orphanet, ICD-10, OMIM, OMIM, MeSH, MeSH
Trismus-pseudocamptodactyly syndrome 3377 A rare, genetic, distal arthrogryposis… Orphanet, OMIM, ICD-10
Trisomy 13 3378 Trisomy 13 is a chromosomal anomaly… Orphanet
Trisomy 18 3380 Trisomy 18 is a chromosomal abnormality… Orphanet
Tritanopia 88629 Tritanopia is an extremely rare form of… Orphanet, ICD-10, OMIM
Tropical pancreatitis 103918 A rare pancreatic disease of juvenile… Orphanet, OMIM, ICD-10
Truncus arteriosus 3384 Truncus arteriosus (TA) is a rare… Orphanet, OMIM, ICD-10
TSH-secreting pituitary adenoma 91347 A rare, functioning, pituitary adenoma… Orphanet, ICD-10
Tuberculosis 3389 Tuberculosis (TB) is a contagious-… Orphanet, ICD-10, ICD-10, MeSH, MedDRA, OMIM
Tuberous sclerosis complex 805 A rare neurocutaneous disorder… Orphanet, ICD-10, OMIM, OMIM, MeSH, MedDRA
Tubular aggregate myopathy 2593 A rare congenital myopathy… Orphanet, ICD-10, OMIM, OMIM
Tubulinopathy-associated dysgyria 467166 A rare genetic central nervous system… Orphanet
Tufted angioma 1063 A rare vascular tumour that may be… Orphanet, OMIM, MeSH, ICD-10
Tumor necrosis factor receptor 1 associated periodic syndrome 32960 Tumor necrosis factor receptor 1… Orphanet, ICD-10, OMIM
Turcot syndrome with polyposis 99818 Turcot syndrome with polyposis or… OMIM
Turcot syndrome with polyposis 99818 Turcot syndrome with polyposis or… Orphanet, OMIM, ICD-10
Typical nemaline myopathy 171436 Typical nemaline myopathy is a moderate… Orphanet, OMIM, OMIM, OMIM, OMIM, OMIM, OMIM, ICD-10
Typical urticaria pigmentosa 158766 Orphanet, ICD-10
Tyrosinemia type 1 882 Tyrosinemia type 1 (HTI) is an inborn… Orphanet, OMIM, MedDRA, ICD-10
Tyrosinemia type 2 28378 Tyrosinemia type 2 is an inborn error… Orphanet, OMIM, MedDRA, ICD-10
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