Rare Disease Library

Autoimmune polyendocrinopathy type 3

APS type 3 · APS3

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 4

APS type 4 · APS4

Congenital dyserythropoietic anemia type III

CDA III · CDA type 3

Congenital pulmonary airway malformation type 3

CCAM type 3 · CPAM type 3

Dysbetalipoproteinemia

Remnant hyperlipoproteinemia · HLP type 3

Familial hypocalciuric hypercalcemia type 3

FHH type 3

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

MCAHS type 3 · Multiple congenital anomalies-hypotonia-seizures syndrome type 3

Osteogenesis imperfecta type 3

OI type 3 · Progressive deforming osteogenesis imperfecta

Peeling skin syndrome type A

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

Progressive myoclonic epilepsy type 3

EPM3 · PME type 3

Proximal spinal muscular atrophy type 3

Juvenile spinal muscular atrophy · Kugelberg-Welander disease