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"

29 matching diseasesClear search ×

Acquired angioedema

AAE · Acquired C1 inhibitor deficiency

ORPHA:91385

Acquired angioedema with C1Inh deficiency

Acquired angioneurotic edema with C1 inhibitor deficiency · Acquired angioneurotic edema with C1Inh deficiency

ORPHA:528663

Acquired arginine vasopressin deficiency

Acquired CDI · Acquired neurogenic diabetes insipidus

ORPHA:95626

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 pituitary hormone deficiency

ORPHA:95502

Acquired prothrombin deficiency

Acquired hypoprothrombinemia

ORPHA:26348

Acyl-CoA dehydrogenase 9 deficiency

ACAD9 deficiency

ORPHA:99901

Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies

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

ORPHA:306431

Alpha-1-antitrypsin deficiency

Alpha1-antitrypsin deficiency · Alpha-1-proteinase inhibitor deficiency

ORPHA:60

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

ORPHA:141

Congenital brain dysgenesis due to glutamine synthetase deficiency

Inherited GS deficiency · Inherited glutamine synthetase deficiency

ORPHA:71278

Congenital plasminogen activator inhibitor type 1 deficiency

Congenital PAI-1 deficiency

ORPHA:465

Epileptic encephalopathy with global cerebral demyelination

AGC1 deficiency · Mitochondrial aspartate-glutamate carrier 1 deficiency

ORPHA:353217

Hereditary angioedema with C1Inh deficiency

HAE · HAE with C1 inhibitor deficiency

ORPHA:528623

Medium chain acyl-CoA dehydrogenase deficiency

ACADM deficiency · Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency

ORPHA:42

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

ORPHA:631

Non-acquired pituitary hormone deficiency

ORPHA:95488

OBSOLETE: C1 inhibitor deficiency

ORPHA:459353

Protein S acquired deficiency

ORPHA:26349

Rare acquired deficiency anemia

ORPHA:248302

Renin-angiotensin-aldosterone system-blocker-induced angioedema

ACEI-related acquired angioedema · Acquired angioedema with normal C1INH

ORPHA:100057

Short chain acyl-CoA dehydrogenase deficiency

ACADS deficiency · SCAD deficiency

ORPHA:26792