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"

62 matching diseasesClear search ×

TEMPI syndrome

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

ORPHA:284227

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

Tremor-ataxia-central hypomyelination syndrome

TACH syndrome

ORPHA:447896

Tricho-dento-osseous syndrome

TDO syndrome

ORPHA:3352

Triple A syndrome

2A syndrome · 3A syndrome

ORPHA:869

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

W syndrome

Pallister-W syndrome

ORPHA:2804

X-linked alpha-thalassemia-intellectual disability syndrome

ATR-X syndrome

ORPHA:847

X-linked intellectual disability-spastic paraplegia with iron deposits syndrome

Arena syndrome

ORPHA:85333

X-linked intellectual disability, Armfield type

Armfield syndrome

ORPHA:85276

Xq21 microdeletion syndrome

Ayazi syndrome · Monosomy Xq21

ORPHA:1435