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"

20 matching diseasesClear search ×

Alpha-thalassemia-myelodysplastic syndrome

Acquired HbH disease · Acquired hemoglobin H disease

ORPHA:231401

Acquired arginine vasopressin deficiency

Acquired CDI · Acquired neurogenic diabetes insipidus

ORPHA:95626

Acquired Creutzfeldt-Jakob disease

ORPHA:454700

Acquired pseudoxanthoma elasticum

Acquired Gronblad-Strandberg-Touraine syndrome · Acquired PXE

ORPHA:228247

Acquired skeletal muscle disease

ORPHA:206638

Acquired von Willebrand syndrome

Acquired von Willebrand disease

ORPHA:99147

Glycogen storage disease due to liver glycogen phosphorylase deficiency

GSD due to liver glycogen phosphorylase deficiency · Glycogen storage disease type 6

ORPHA:369

Hemoglobin C disease

HbCC disease

ORPHA:2132

Hemoglobin H disease

Alpha-thalassemia intermedia · HbH disease

ORPHA:93616

Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

HbSS disease · HPFH-sickle cell disease syndrome

ORPHA:251380

Immune-mediated thrombotic thrombocytopenic purpura

Acquired thrombotic thrombocytopenic purpura · Acquired TTP

ORPHA:93585

OBSOLETE: Rare acquired eye disease

ORPHA:101949

Other acquired skin disease

ORPHA:90077

Rippling muscle disease with myasthenia gravis

Acquired rippling muscle disease · Generalized myasthenia gravis

ORPHA:206575

Sickle cell disease

HbSS disease · SCD

ORPHA:275752

Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant

HbSS disease · SCD

ORPHA:700085

Sickle cell S-C disease

Hemoglobin S-C disease · HbSC disease

ORPHA:251365

Sickle cell S-D Punjab disease

HbSD disease · Hemoglobin S-D Punjab disease

ORPHA:251370

Sickle cell S-E disease

HbSE disease · Hemoglobin S-E disease

ORPHA:251375

Sickle cell S-O Arab disease

Hemoglobin S-O Arab disease · HbS-O Arab disease

ORPHA:700090