Rare Disease Library

Trichorhinophalangeal syndrome

Trichorhinophalangeal syndrome type 1

Trichorhinophalangeal syndrome type 2

Langer-Giedion syndrome

Trichothiodystrophy

Tricuspid atresia

Tricuspid valve agenesis

Congenital unguarded tricuspid orifice

Trigeminal autonomic cephalalgia

Trigeminal neuralgia

Trigeminal trophic syndrome

TTS · Trigeminal neurotrophic ulceration

Triglyceride deposit cardiomyovasculopathy

Neutral lipid storage disease with severe cardiovascular involvement · TGCV

Trigonocephaly-bifid nose-acral anomalies syndrome

Trigonocephaly-broad thumbs syndrome

Hunter-Rudd-Hoffmann syndrome

Trigonocephaly-short stature-developmental delay syndrome

Say-Meyer syndrome

TRIM22-related inflammatory bowel disease

TRIM22-related IBD

TRIM32-related limb-girdle muscular dystrophy R8

Autosomal recessive limb-girdle muscular dystrophy type 2H · LGMD type 2H

Triose phosphate-isomerase deficiency

Triphalangeal thumb-polysyndactyly syndrome

TPT-PS syndrome

Triphalangeal thumbs-brachyectrodactyly syndrome

Carnevale-Hernández-del Castillo-Torres syndrome

Triple A syndrome

2A syndrome · 3A syndrome

Triploidy syndrome

Trismus-pseudocamptodactyly syndrome

Distal arthrogryposis type 7 · Dutch-Kentucky 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

Tritanopia

Blue colour blindness · Congenital tritanopia

Tropical endomyocardial fibrosis

Davies disease · TEMF

Tropical pancreatitis

TCP · Tropical calcific chronic pancreatitis

Tropical spastic paraparesis

HAM/TSP · HTLV-1-associated myelopathy/tropical spastic paraparesis

TRPV4-related bone disorder

True congenital shoulder dislocation

True myelomeningocele

True MMC

True myeloschisis

True unicornuate uterus

Complete unilateral Müllerian aplasia · Complete unilateral aplasia of the Müllerian ducts

TSH-secreting pituitary adenoma

Pituitary thyrotrophic adenoma · TSH-oma

Tuberculosis

Tuberous sclerosis complex

Bourneville disease · Bourneville syndrome

Tubular aggregate myopathy