Diseases

Name Orphanumber Description XREF(s)
Tibial muscular dystrophy 609 Tibial muscular dystrophy (TMD) is a… Orphanet, OMIM, ICD-10, MeSH
Tietz syndrome 42665 Tietz syndrome is a genetic… Orphanet, ICD-10, OMIM, MeSH
Timothy syndrome 65283 A rare, multiple congenital anomalies… Orphanet, OMIM, ICD-10, MeSH, OMIM
Timothy syndrome type 1 595098 Orphanet
Timothy syndrome type 2 595105 Orphanet
Titin-related limb-girdle muscular dystrophy R10 140922 A form of limb-girdle muscular… Orphanet, OMIM, ICD-10
TMEM165-CDG 314667 TMEM165-CDG is a form of congenital… Orphanet, OMIM, ICD-10
TMEM199-CDG 466703 A rare congenital disorder of… Orphanet, OMIM, ICD-10
TMEM70-related mitochondrial encephalo-cardio-myopathy 1194 Mitochondrial encephalo-cardio-myopathy… Orphanet, ICD-10, OMIM
TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome 562569 A rare, genetic, neurodevelopmental… Orphanet, ICD-10, OMIM
TNP03-related limb-girdle muscular dystrophy D2 55595 A rare subtype of autosomal dominant… Orphanet, ICD-10, OMIM
TOR1AIP1-related limb-girdle muscular dystrophy 424261 A form of limb-girdle muscular… Orphanet, OMIM, ICD-10
Torg-Winchester syndrome 3460 Orphanet, MeSH, ICD-10, OMIM, OMIM
Toriello-Carey syndrome 3338 Toriello Carey syndrome is a multiple… Orphanet, OMIM, ICD-10
Toriello-Lacassie-Droste syndrome 3339 A rare ectodermal dysplasia… Orphanet, OMIM, ICD-10
Total early-onset cataract 98994 Orphanet, OMIM, ICD-10, MeSH, OMIM, OMIM
Total spina bifida aperta 268377 Orphanet
Total spina bifida cystica 268748 Orphanet
Townes-Brocks syndrome 857 A rare genetic disorder characterized… Orphanet, OMIM, MeSH, OMIM, ICD-10
Toxicity or absent response to clozapine 284121 Orphanet
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