Rare Disease Library

Peeling skin syndrome type B

Generalized peeling skin syndrome type B · Inflammatory peeling skin syndrome

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B

RI-CMT type B

Benign recurrent intrahepatic cholestasis type 1

BRIC type 1 · BRIC1

Benign recurrent intrahepatic cholestasis type 2

BRIC type 2 · BRIC2

Blepharophimosis-intellectual disability syndrome, Verloes type

BMRS type V · BMRS, Verloes type

Congenital generalized lipodystrophy type 4

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

Dihydropteridine reductase deficiency

Hyperphenylalaninemia due to dihydropteridine reductase deficiency · PKU type 2

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

Lafora disease

EPM2 · PME type 2

Peeling skin syndrome

Deciduous skin · Familial continuous skin peeling syndrome

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

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 B

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

Thymoma type B