Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

117 matching diseasesClear search ×

TARP syndrome

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

ORPHA:2886

TEMPI syndrome

Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome

ORPHA:284227

Temple syndrome

ORPHA:254516

Thomas syndrome

Potter sequence-cleft lip/palate-cardiopathy syndrome

ORPHA:3316

Thrombocytopenia-absent radius syndrome

TAR syndrome

ORPHA:3320

Tietz syndrome

Hypopigmentation-deafness syndrome · Hypopigmentation-hearing loss syndrome

ORPHA:42665

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome

ORPHA:857

Tremor-ataxia-central hypomyelination syndrome

TACH syndrome

ORPHA:447896

Tricho-dento-osseous syndrome

TDO syndrome

ORPHA:3352

Triphalangeal thumb-polysyndactyly syndrome

TPT-PS syndrome

ORPHA:2950

Triple A syndrome

2A syndrome · 3A syndrome

ORPHA:869

Trismus-pseudocamptodactyly syndrome

Distal arthrogryposis type 7 · Dutch-Kentucky syndrome

ORPHA:3377

Tubulointerstitial nephritis and uveitis syndrome

Dobrin syndrome · TINU syndrome

ORPHA:91500

Tumor necrosis factor receptor 1 associated periodic syndrome

Familial Hibernian fever · TNF receptor 1-associated periodic syndrome

ORPHA:32960

Turner syndrome

45,X syndrome · 45,X/46,XX syndrome

ORPHA:881

Uncombable hair syndrome

Pili trianguli et canaliculi

ORPHA:1410

W syndrome

Pallister-W syndrome

ORPHA:2804

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

ORPHA:899

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

Woolly hair

Familial woolly hair syndrome · Familial wooly hair syndrome

ORPHA:170

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

ORPHA:3469