Rare Disease Library

TARP syndrome

Pierre Robin sequence-congenital heart defect-talipes syndrome · Pierre Robin syndrome-congenital heart defect-talipes syndrome

Temtamy syndrome

Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome · Temtamy-Shalash syndrome

Tetrasomy 18p syndrome

Isochromosome 18p

Tetrasomy 21 syndrome

Isochromosome 21

Tetrasomy 5p syndrome

Isochromosome 5p

Tetrasomy 9p syndrome

Isochromosome 9p

Tetrasomy X syndrome

48,XXXX syndrome · Quadruple X

Thrombocytopenia-absent radius syndrome

TAR syndrome

Total autosomal trisomy syndrome

Tremor-ataxia-central hypomyelination syndrome

TACH syndrome

Tricho-dento-osseous syndrome

TDO syndrome

Trichodental syndrome

Kersey syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Triploidy syndrome

Trisomy 10p syndrome

Trisomy 12p syndrome

Duplication 12p

Trisomy 13 syndrome

Patau syndrome

Trisomy 17p syndrome

Dup(17p)

Trisomy 18 syndrome

Chromosome 18 duplication · Edwards syndrome

Trisomy 18p syndrome

Duplication 18p · Duplication of the short arm of chromosome 18

Trisomy 1q syndrome

Duplication 1q

Trisomy 20p syndrome

Dup(20p) · Duplication of 20p

Trisomy 4p syndrome

Trisomy of the short arm of chromosome 4 · Duplication 4p

Trisomy 5p syndrome

Duplication 5p · Duplication of the short arm of chromosome 5

Trisomy 8p syndrome

Duplication 8p

Trisomy 8q syndrome

Duplication 8q

Trisomy 9p syndrome

Duplication 9p · Duplication of the short arm of chromosome 9

Trisomy X syndrome

47,XXX syndrome · Triplo-X syndrome

Tubulointerstitial nephritis and uveitis syndrome

Dobrin syndrome · TINU syndrome

Tumor necrosis factor receptor 1 associated periodic syndrome

Familial Hibernian fever · TNF receptor 1-associated periodic syndrome

Usher syndrome type 3

USH3