Rare Disease Library

Autism spectrum disorder due to AUTS2 deficiency

ASD due to AUTS2 deficiency · AUTS2 syndrome

Autism spectrum disorder-epilepsy-arthrogryposis syndrome

SLC35A3-CDG

Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency

Autism-facial port-wine stain syndrome

Autoerythrocyte sensitization syndrome

GDS · Gardner-Diamond syndrome

Autoimmune bullous skin disease

Autoimmune disease with skin involvement

Autoimmune encephalitis

AE · AIE

Autoimmune encephalopathy with parasomnia and obstructive sleep apnea

Anti-IgLON5 syndrome · Anti-IgLON5 disease

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

Evans syndrome associated with primary immunodeficiency · TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease

Autoimmune hemolytic anemia, cold type

Cold AIHA · cAHA

Autoimmune hemolytic anemia, warm type

Warm AIHA · wAHA

Autoimmune heparin-induced thrombocytopenia

Autoimmune HIT · aHIT

Autoimmune hepatitis

AIH

Autoimmune hepatitis type 1

AIH type 1

Autoimmune hepatitis type 2

AIH type 2

Autoimmune hypoparathyroidism

Autoimmune interstitial lung disease-arthritis syndrome

COPA syndrome

Autoimmune limbic encephalitis

ALE

Autoimmune lymphoproliferative syndrome

ALPS · Canale-Smith syndrome

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

ALPS due to CTLA4 haploinsuffiency · CHAI

Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency

CEDS · Caspase 8 deficiency syndrome

Autoimmune pancreatitis

AIP

Autoimmune pancreatitis type 1

AIP type 1 · IgG4-related pancreatitis

Autoimmune pancreatitis type 2

AIP type 2 · Duct-centric pancreatitis

Autoimmune polyendocrinopathy

APS · Autoimmune polyglandular syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Autoimmune polyendocrinopathy type 2

APS type 2 · APS2

Autoimmune polyendocrinopathy type 3

APS type 3 · APS3

Autoimmune polyendocrinopathy type 4

APS type 4 · APS4

Autoimmune pulmonary alveolar proteinosis

Autoimmune PAP · aPAP

Autoimmune thrombocytopenia

Autoimmune/inflammatory optic neuropathy

Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

APLAID

Autoinflammatory syndrome

Autoinflammatory syndrome of childhood

Autoinflammatory syndrome with acne and/or hidradenitis suppurativa

Autoinflammatory syndrome with immune deficiency

Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis

Autoinflammatory syndrome with skin involvement

Autosomal anomaly syndrome

Autosomal dominant ACTN2-related distal myopathy

Autosomal dominant adult-onset proximal spinal muscular atrophy

Autosomal dominant adult-onset proximal SMA · Autosomal dominant late-onset spinal muscular atrophy, Finkel type

Autosomal dominant Alport syndrome

Autosomal dominant aplasia and myelodysplasia

Autosomal dominant aplastic anemia and myelodysplasia

Autosomal dominant brachyolmia

Brachyolmia type 3

Autosomal dominant centronuclear myopathy

AD-CNM

Autosomal dominant cerebellar ataxia type I

ADCA1 · ADCAI