Rare Disease Library

Autoimmune polyendocrinopathy type 4

APS type 4 · APS4

Activated PI3K-delta syndrome 1

Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta activating mutations, type 1 · Activated p110delta syndrome, type 1

Activated PI3K-delta syndrome 2

APDS type 2 · APDS2

Alexander disease type I

AxD type I

Alexander disease type II

AxD type II

Autoimmune hepatitis type 1

AIH type 1

Autoimmune hepatitis type 2

AIH type 2

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

Congenital dyserythropoietic anemia type IV

CDA IV · CDA due to KLF1 mutation

Congenital generalized lipodystrophy type 4

GCL4 · Berardinelli-Seip syndrome type 4, BSCL type 4

Congenital pulmonary airway malformation type 4

CPAM type 4 · Congenital cystic adenomatoid malformation of the lung type 4

Glycogen storage disease due to glycogen branching enzyme deficiency

GSD due to glycogen branching enzyme deficiency · GSD type 4

Osteogenesis imperfecta type 4

OI type 4

Peeling skin syndrome type A

Generalized peeling skin syndrome type A · Non-inflammatory generalized peeling skin syndrome type A.

Proximal spinal muscular atrophy type 4

Kugelberg-Welander disease · SMA