Rare Disease Library

Glycogen storage disease due to lactate dehydrogenase deficiency

GSD due to lactate dehydrogenase deficiency · Glycogenosis due to lactate dehydrogenase deficiency

GM1 gangliosidosis

Beta-galactosidase-1 deficiency · GLB1 deficiency

Gray platelet syndrome

Alpha storage pool deficiency · GPS

Histidinemia

HAL deficiency · HIS deficiency

Hyaluronidase deficiency

MPS9 · MPSIX

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

Hyperprolinemia type 1

Proline oxidase deficiency

Hypocalcemic vitamin D-dependent rickets

1-alpha-hydroxylase deficiency · PDDRI

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

L-Arginine:glycine amidinotransferase deficiency

AGAT deficiency

L-ferritin deficiency

LCAT deficiency

Lecithin-cholesterol acyltransferase deficiency

LIG4 syndrome

DNA ligase IV deficiency · Ligase 4 syndrome

Lysosomal acid lipase deficiency

LAL deficiency · LALD

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

Monoamine oxidase A deficiency

Brunner syndrome

Mucopolysaccharidosis type 1

Alpha-L-iduronidase deficiency · MPS1

Mucopolysaccharidosis type 4B

Beta-D-galactosidase deficiency · MPS4B

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

Myeloperoxidase deficiency

MPO deficiency

Neurodegenerative syndrome due to cerebral folate transport deficiency

Folate receptor alpha deficiency · Cerebral folate transport deficiency

OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset

OBSOLETE: Glycogenosis due to acid maltase deficiency, adult onset · OBSOLETE: GSD type 2, adulte onset

OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset

OBSOLETE: Glycogenosis due to acid maltase deficiency, juvenile onset · OBSOLETE: GSD type 2, juvenile onset

Oxoglutaric aciduria

Alpha-ketoglutarate dehydrogenase deficiency

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Prolidase deficiency

Hyperimidodipeptiduria

Pseudo-Zellweger syndrome

Thiolase deficiency

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase deficiency

Pyruvate dehydrogenase E1-alpha deficiency

PDHAD · Pyruvate decarboxylase deficiency

Reticular dysgenesis

AK2 deficiency · De Vaal disease

Sanfilippo syndrome type B

MPS3B · MPSIIIB

Severe combined immunodeficiency due to adenosine deaminase deficiency

ADA deficiency · SCID due to adenosine deaminase deficiency

Tay-Sachs disease

Beta-hexosaminidase subunit alpha deficiency · GM2 gangliosidosis, Tay-Sachs variant

TCR-alpha-beta-positive T-cell deficiency

TCR-alpha-beta+ T-cell deficiency

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency