Rare Disease Library

Dihydropteridine reductase deficiency

Hyperphenylalaninemia due to dihydropteridine reductase deficiency · PKU type 2

Activated PI3K-delta syndrome 2

APDS type 2 · APDS2

Autoimmune hepatitis type 2

AIH type 2

Autoimmune pancreatitis type 2

AIP type 2 · Duct-centric pancreatitis

Autoimmune polyendocrinopathy type 2

APS type 2 · APS2

Benign recurrent intrahepatic cholestasis type 2

BRIC type 2 · BRIC2

Classic phenylketonuria

Classic PKU · PKU

Classical-like Ehlers-Danlos syndrome type 2

Classical-like EDS type 2 · AEBP1-related Ehlers-Danlos syndrome

Congenital dyserythropoietic anemia type II

CDA II · CDA type 2

Congenital pulmonary airway malformation type 2

CCAM type 2 · CPAM type 2

Danon disease

GSD due to LAMP-2 deficiency · Glycogenosis due to LAMP-2 deficiency

Familial hypocalciuric hypercalcemia type 2

FHH type 2

Feingold syndrome type 2

Brachydactyly-short stature-microcephaly syndrome · Brunner-Winter syndrome type 2

Glycogen storage disease due to acid maltase deficiency

Alpha-1,4-glucosidase acid deficiency · GSD due to acid maltase deficiency

Hereditary cryohydrocytosis with reduced stomatin

CHC type 2 · Hereditary cryohydrocytosis type 2

Lafora disease

EPM2 · PME type 2

Maternal phenylketonuria syndrome

Hyperphenylalaninemic embryopathy · Maternal hyperphenylalaninemia

Mild phenylketonuria

Mild PKU · mPKU

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

MCAHS type 2

Osteogenesis imperfecta type 2

Lethal osteogenesis imperfecta · OI type 2

Peeling skin syndrome type A

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

Peeling skin syndrome type B

Generalized peeling skin syndrome type B · Inflammatory peeling skin syndrome

Phenylketonuria

PKU

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

Proximal spinal muscular atrophy type 2

Intermediate spinal muscular atrophy · Kugelberg-Welander disease

Pseudohypoaldosteronism type 1

PHA1 · PHA type 1

REN-related autosomal dominant tubulointerstitial kidney disease

FJHN type 2 · Familial juvenile hyperuricemic nephropathy type 2

Spondyloepimetaphyseal dysplasia, Missouri type

SEMD type 2 · SEMD, Missouri type

Tetrahydrobiopterin-responsive phenylketonuria

BH4-responsive phenylketonuria · BH4-responsive PKU

Timothy syndrome type 2

TS2 · LQT8 type 2