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"

8 matching diseasesClear search ×

Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome

MLT · Cutaneovisceral angiomatosis-thrombocytopenia syndrome

ORPHA:464321

Braddock-Carey syndrome

Thrombocytopenia-Robin sequence syndrome

ORPHA:3323

Kasabach-Merritt phenomenon

Hemangioma-thrombocytopenia syndrome

ORPHA:2330

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

ATRUS syndrome

ORPHA:71289

Spinal arteriovenous metameric syndrome

Cutaneomeningospinal angiomatosis · SAMS 1-31

ORPHA:53721

Stormorken-Sjaastad-Langslet syndrome

Thrombocytopathy-asplenia-miosis syndrome · Stormorken syndrome

ORPHA:3204

Syndromic constitutional thrombocytopenia

ORPHA:477794

Thrombocytopenia-absent radius syndrome

TAR syndrome

ORPHA:3320