MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency

ORPHA:444463Disease
Autosomal recessive

Autoimmune hepatitis

ORPHA:2137Disease
Not applicable

Autoimmune hepatitis type 1

ORPHA:563576Clin. sub.

Autoimmune hepatitis type 2

ORPHA:563581Clin. sub.

Autoimmune hypoparathyroidism

ORPHA:36913Disease
Not applicable

Autoimmune interstitial lung disease-arthritis syndrome

ORPHA:444092Disease
Autosomal dominant

Autoimmune limbic encephalitis

ORPHA:623615Disease

Autoimmune lymphoproliferative syndrome

ORPHA:3261Disease
Autosomal dominant, Autosomal recessive

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

ORPHA:436159Disease
Autosomal dominant

Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency

ORPHA:275517Disease
Autosomal recessive

Autoimmune pancreatitis

ORPHA:103919Clin. grp.
Not applicable

Autoimmune pancreatitis type 1

ORPHA:280302Clin. sub.
Not applicable

Autoimmune pancreatitis type 2

ORPHA:280315Disease
Not applicable

Autoimmune polyendocrinopathy type 1

ORPHA:3453Disease
Autosomal recessive

Autoimmune polyendocrinopathy type 2

ORPHA:3143Disease

Autoimmune polyendocrinopathy type 3

ORPHA:227982Disease
Multigenic/multifactorial

Autoimmune polyendocrinopathy type 4

ORPHA:227990Disease
Multigenic/multifactorial

Autoimmune pulmonary alveolar proteinosis

ORPHA:747Disease
Multigenic/multifactorial, Not applicable

Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

ORPHA:324530Disease
Autosomal dominant

Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis

ORPHA:329173Disease
Autosomal recessive

Autosomal dominant ACTN2-related distal myopathy

ORPHA:708133Disease
Autosomal dominant

Autosomal dominant Alport syndrome

ORPHA:88918Clin. sub.
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2

ORPHA:64746Clin. grp.
Autosomal dominant

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation

ORPHA:487814Disease
Autosomal dominant