Rare Disease Library

Gaucher disease

Acid beta-glucosidase deficiency · Glucocerebrosidase deficiency

Acid sphingomyelinase deficiency

ASMD

Acyl-CoA dehydrogenase 9 deficiency

ACAD9 deficiency

ALG6-CDG

CDG syndrome type Ic · CDG-Ic

ALG8-CDG

CDG syndrome type Ih · CDG-Ih

Alkaptonuria

Hereditary ochronosis · Homogentisic acid oxidase deficiency

Argininemia

Arginase 1 deficiency · Arginase deficiency

Aromatase deficiency

Congenital estrogen deficiency

Aspartylglucosaminuria

Aspartylglucosaminidase deficiency

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Beta-mannosidosis

Beta-mannosidase deficiency

Beta-ureidopropionase deficiency

Beta-alanine synthase deficiency

Biotinidase deficiency

Juvenile-onset multiple carboxylase deficiency · Late-onset multiple carboxylase deficiency

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

Chronic diarrhea due to glucoamylase deficiency

Maltase-glucoamylase deficiency

Dopamine beta-hydroxylase deficiency

DBH deficiency

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

Farber disease

Acid ceramidase deficiency · Farber lipogranulomatosis

Fucosidosis

Alpha-L-fucosidase deficiency

Galactosialidosis

Goldberg syndrome · Neuraminidase deficiency with beta-galactosidase deficiency

Glutaric acidemia type 3

Glutaric aciduria type 3 · Glutaryl-CoA oxidase deficiency

Glycogen storage disease due to acid maltase deficiency

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

Glycogen storage disease due to acid maltase deficiency, infantile onset

Glycogenosis type II, infantile onset · Glycogen storage disease type II, infantile onset

Glycogen storage disease due to acid maltase deficiency, late-onset

GSD type II, late-onset · Glycogen storage disease type II, late-onset

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

GM1 gangliosidosis

Beta-galactosidase-1 deficiency · GLB1 deficiency

Hemolytic anemia due to glucophosphate isomerase deficiency

Glucose-6-phosphate isomerase deficiency · GPI deficiency

Histidinemia

HAL deficiency · HIS deficiency

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

Lipoic acid synthetase deficiency

Lysosomal acid lipase deficiency

LAL deficiency · LALD

Medium chain acyl-CoA dehydrogenase deficiency

ACADM deficiency · Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

Mucopolysaccharidosis type 4B

Beta-D-galactosidase deficiency · MPS4B

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

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

Prolidase deficiency

Hyperimidodipeptiduria

Sanfilippo syndrome type B

MPS3B · MPSIIIB

Sanfilippo syndrome type D

GNS deficiency · Glucosamine N-acetyl-6-sulfatase deficiency

Short chain acyl-CoA dehydrogenase deficiency

ACADS deficiency · SCAD 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