Rare Disease Library

Peeling skin syndrome type A

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

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 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

Autosomal recessive intermediate Charcot-Marie-Tooth disease type A

RI-CMT type A

Dihydropteridine reductase deficiency

Hyperphenylalaninemia due to dihydropteridine reductase deficiency · PKU type 2

Lafora disease

EPM2 · PME type 2

Peeling skin syndrome

Deciduous skin · Familial continuous skin peeling syndrome

Peeling skin syndrome type B

Generalized peeling skin syndrome type B · Inflammatory peeling skin syndrome

Progressive myoclonic epilepsy type 3

EPM3 · PME type 3

Progressive myoclonic epilepsy type 5

EPM5 · PME type 5

Progressive myoclonic epilepsy type 6

EPM6 · GOSR2-related progressive myoclonus ataxia

Progressive myoclonic epilepsy type 7

EPM7 · MEAK

Progressive myoclonic epilepsy type 8

EPM8 · PME type 8

Progressive myoclonic epilepsy type 9

EPM9 · PME type 9

Pseudohypoaldosteronism type 1

PHA1 · PHA type 1

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A · MOCOD type A

Thymoma type A