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"

159 matching diseasesClear search ×

Tetraamelia-multiple malformations syndrome

Zimmer phocomelia · PAPPAS

ORPHA:3301

Thrombocytopenia-absent radius syndrome

TAR syndrome

ORPHA:3320

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

Trisomy 13 syndrome

Patau syndrome

ORPHA:3378

Trisomy X syndrome

47,XXX syndrome · Triplo-X syndrome

ORPHA:3375

Van der Woude syndrome

Cleft lip/palate with mucous cysts of lower lip · Lip-pit syndrome

ORPHA:888

VEXAS syndrome

ORPHA:596753

Vici syndrome

Dionisi-Vici-Sabetta-Gambarara syndrome · Corpus callosum agenesis-cataract-immunodeficiency syndrome

ORPHA:1493

Vitamin K antagonist embryofetopathy

Vitamin K antagonist embryopathy · di Sala syndrome

ORPHA:1914

W syndrome

Pallister-W syndrome

ORPHA:2804

Wolf-Hirschhorn syndrome

4p- syndrome · Distal deletion 4p

ORPHA:280

X-linked lymphoproliferative disease

Duncan disease · Purtilo syndrome

ORPHA:2442

XK aprosencephaly syndrome

Garcia-Lurie syndrome · XK syndrome

ORPHA:3469