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"

7 matching diseasesClear search ×

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

ORPHA:93583

Immune-mediated thrombotic thrombocytopenic purpura

Acquired thrombotic thrombocytopenic purpura · Acquired TTP

ORPHA:93585

Thrombotic thrombocytopenic purpura

Moschcowitz disease · TTP

ORPHA:54057

Kyasanur forest disease

Kyasanur hemorrhagic fever · Monkey disease

ORPHA:319254

Meige disease

Hereditary lymphedema type II · Meige lymphedema

ORPHA:90186

Moyamoya disease

Idiopathic Moyamoya disease

ORPHA:2573

Mucopolysaccharidosis type 4

MPS4 · MPSIV

ORPHA:582