Rare Disease Library

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 dominant tubulointerstitial kidney disease

Familial juvenile hyperuricemic nephropathy · ADTKD

Autosomal dominant vitreoretinochoroidopathy

ADVIRC

Autosomal erythropoietic protoporphyria

EPP

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Autosomal recessive spastic ataxia type 6 · ARSACS

B-lymphoblastic leukemia/lymphoma with hyperdiploidy

B-lymphoblastic leukemia/lymphoma with hypodiploidy

Hypodiploid ALL

Blastic plasmacytoid dendritic cell neoplasm

BPDCN

Brain-lung-thyroid syndrome

Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome

Bullous pemphigoid

Camptodactyly-joint contractures-facial skeletal defects syndrome

Rozin camptodactyly syndrome

Carcinoid syndrome

Malignant carcinoid syndrome

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

PHD syndrome · Polyvalvular heart disease syndrome

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation

CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome

CAIN

Central areolar choroidal dystrophy

Areolar atrophy of the macula · CACD

Central cloudy dystrophy of François

CCDF · Central cloudy corneal dystrophy of François

Central congenital hypothyroidism

Secondary hypothyroidism

Central discoid corneal dystrophy

Cervical dermoid cyst

Dermoid cyst of the neck

Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

Chondrodysplasia with joint dislocations, gPAPP type

gPAPP deficiency

Chondromyxoid fibroma

Chordoid glioma

Choroid plexus carcinoma

Choroid plexus tumor