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"

21 matching diseasesClear search ×

Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies

Acquired adult-onset immunodeficiency · Adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies

ORPHA:306431

Acquired angioedema

AAE · Acquired C1 inhibitor deficiency

ORPHA:91385

Acquired factor V deficiency

ORPHA:599490

Acquired factor VII deficiency

ORPHA:599495

Acquired factor X deficiency

aFX

ORPHA:599501

Acquired factor XI deficiency

aFXI

ORPHA:599507

Acquired factor XIII deficiency

aFXIII

ORPHA:599513

Acquired hemophilia A

Acquired factor VIII deficiency · Acquired F8 deficiency

ORPHA:599480

Acquired hemophilia B

Acquired factor IX deficiency · Acquired F9 deficiency

ORPHA:599485

Acquired immunodeficiency

ORPHA:310050

Acquired prothrombin deficiency

Acquired hypoprothrombinemia

ORPHA:26348

Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency

Adult-onset common variable immunodeficiency phenotype due to B-cell activating factor receptor deficiency · Adult-onset CVID phenotype due to BAFF-receptor deficiency

ORPHA:696925

Adult-onset myasthenia gravis

Adult-onset acquired myasthenia · Adult-onset autoimmune myasthenia gravis

ORPHA:391490

Citrullinemia type II

Adult-onset citrin deficiency · CTLN2

ORPHA:247585

FADD-related immunodeficiency

ORPHA:306550

Late-onset combined immunodeficiency due to ICOS deficiency

Late-onset CID due to ICOS deficiency · Late-onset combined immunodeficiency due to inducible T-cell costimulator protein deficiency

ORPHA:695183

Late-onset combined immunodeficiency due to ICOSL deficiency

Late-onset CID due to ICOSL deficiency · Late-onset combined immunodeficiency due to inducible T cell costimulator ligand protein deficiency

ORPHA:695191

Late-onset isolated ACTH deficiency

ORPHA:199299

Primary immunodeficiency

ORPHA:101997

Protein S acquired deficiency

ORPHA:26349

Rare acquired deficiency anemia

ORPHA:248302