Rare Disease Library

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

PASLI · APDS

Activated PI3K-delta syndrome 2

APDS type 2 · APDS2

Alexander disease type I

AxD type I

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 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

Benign recurrent intrahepatic cholestasis type 1

BRIC type 1 · BRIC1

Classical-like Ehlers-Danlos syndrome type 1

Ehlers-Danlos syndrome due to tenascin-X deficiency · Classical-like EDS type 1

Congenital dyserythropoietic anemia type I

CDA I · CDA type 1

Congenital pulmonary airway malformation type 1

CCAM type 1 · CPAM type 1

Familial hypocalciuric hypercalcemia type 1

FHH type 1

Feingold syndrome type 1

Brunner-Winter syndrome type 1 · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1

Glycogen storage disease due to glucose-6-phosphatase deficiency

G6P deficiency · GSD due to G6P deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

G6P translocase deficiency · G6PT deficiency

Hyperlipoproteinemia type 1

HLP type 1

Minimal pigment oculocutaneous albinism type 1

MP OCA type 1 · OCA1-MP

Osteogenesis imperfecta type 1

Adair-Dighton syndrome · Mild osteogenesis imperfecta

Peeling skin syndrome type A

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

Proximal spinal muscular atrophy type 1

Infantile spinal muscular atrophy · Infantile-onset spinal muscular atrophy

Pseudohypoaldosteronism type 1

PHA1 · PHA type 1

Split cord malformation type I

Diastematomyelia · SCM type I

Temperature-sensitive oculocutaneous albinism type 1

OCA1-TS · TS OCA type 1

Timothy syndrome type 1

TS1 · LQT8 type 1