Diseases

Name Orphanumber Description XREF(s)
Telethonin-related limb-girdle muscular dystrophy R7 34514 A mild subtype of autosomal recessive… Orphanet, OMIM, ICD-10
TELO2-related intellectual disability-neurodevelopmental disorder 488642 A rare genetic multiple congenital… Orphanet, ICD-10, OMIM
Temperature-sensitive oculocutaneous albinism type 1 352737 An extremely rare form of… Orphanet, ICD-10, OMIM
Temple syndrome due to maternal uniparental disomy of chromosome 14 96184 A rare chromosomal anomaly… Orphanet, ICD-10, OMIM
Temple syndrome due to paternal 14q32.2 microdeletion 254525 Orphanet, ICD-10, OMIM
Temple syndrome due to paternal 14q32.2 hypomethylation 254531 Orphanet, ICD-10, OMIM
Temple-Baraitser syndrome 420561 A rare, genetic, multiple congenital… Orphanet, OMIM, ICD-10
Temtamy preaxial brachydactyly syndrome 363417 Temtamy preaxial brachydactyly syndrome… Orphanet, ICD-10, OMIM
Temtamy syndrome 1777 A very rare congenital genetic… Orphanet, ICD-10, OMIM, MeSH
6q terminal deletion syndrome 75857 A rare partial deletion of the long arm… Orphanet, ICD-10
Terminal osseous dysplasia-pigmentary defects syndrome 88630 Terminal osseous dysplasia-pigmentary… Orphanet, ICD-10, OMIM
Tessier number 4 facial cleft 141258 A rare oblique facial cleft… Orphanet, ICD-10, OMIM
Tessier number 7 facial cleft 141276 A rare lateral facial cleft… Orphanet, OMIM, ICD-10
Test 1222 Farrrr far away, behind the word…
Testicular regression syndrome 983 Testicular regression syndrome (TRS) is… Orphanet, MeSH, MedDRA, ICD-10, OMIM
Testicular seminomatous germ cell tumor 842 Testicular seminomatous germ cell tumor… Orphanet, ICD-10, OMIM
Tetraamelia-multiple malformations syndrome 3301 An extremely rare mostly lethal… Orphanet, MeSH, OMIM, ICD-10, OMIM
Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 293284 A form of phenylketonuria (PKU), an… Orphanet
Tetralogy of Fallot 3303 Tetralogy of Fallot is a congenital… Orphanet, OMIM, MeSH, MedDRA, ICD-10, OMIM
TFR2-related hemochromatosis 225123 Type 3 hemochromatosis is a form of… Orphanet, OMIM, MeSH, ICD-10
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