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"

200 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

Thrombocytopenia-absent radius syndrome

TAR syndrome

ORPHA:3320

Tietz syndrome

Hypopigmentation-deafness syndrome · Hypopigmentation-hearing loss syndrome

ORPHA:42665

Timothy syndrome

LQT8 · Long QT syndrome type 8

ORPHA:65283

Timothy syndrome type 1

TS1 · LQT8 type 1

ORPHA:595098

Timothy syndrome type 2

TS2 · LQT8 type 2

ORPHA:595105

Tremor-ataxia-central hypomyelination syndrome

TACH syndrome

ORPHA:447896