Rare Disease Library

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

46,XY difference of sex development due to 5-alpha-reductase 2 deficiency

46,XY DSD due to 5-alpha-reductase 2 deficiency · Pseudovaginal perineoscrotal hypospadias

ALG6-CDG

CDG syndrome type Ic · CDG-Ic

ALG8-CDG

CDG syndrome type Ih · CDG-Ih

Alkaptonuria

Hereditary ochronosis · Homogentisic acid oxidase deficiency

Alpha delta granule deficiency

Combined alpha-delta platelet storage pool deficiency · Alpha dense granule deficiency

Alpha-1-antitrypsin deficiency

Alpha1-antitrypsin deficiency · Alpha-1-proteinase inhibitor deficiency

Alpha-mannosidosis

Lysosomal alpha-D-mannosidase deficiency

Alpha-mannosidosis, adult form

Lysosomal alpha-D-mannosidase deficiency, adult form

Alpha-N-acetylgalactosaminidase deficiency

NAGA deficiency · Schindler disease

Alpha-N-acetylgalactosaminidase deficiency type 1

NAGA deficiency type 1 · Schindler disease type 1

Argininemia

Arginase 1 deficiency · Arginase deficiency

Aspartylglucosaminuria

Aspartylglucosaminidase deficiency

Beta-mannosidosis

Beta-mannosidase deficiency

Chronic diarrhea due to glucoamylase deficiency

Maltase-glucoamylase deficiency

Congenital bile acid synthesis defect type 4

2-methylacyl-CoA racemase deficiency · AMACR deficiency

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

Farber disease

Acid ceramidase deficiency · Farber lipogranulomatosis

Fucosidosis

Alpha-L-fucosidase deficiency

Gaucher disease

Acid beta-glucosidase deficiency · Glucocerebrosidase deficiency

Glutaric acidemia type 3

Glutaric aciduria type 3 · Glutaryl-CoA oxidase deficiency

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

Glycogen storage disease due to phosphoglucomutase deficiency

GSD due to phosphoglucomutase deficiency · GSD type 14

GM1 gangliosidosis

Beta-galactosidase-1 deficiency · GLB1 deficiency

Hemolytic anemia due to glucophosphate isomerase deficiency

Glucose-6-phosphate isomerase deficiency · GPI deficiency

Hypocalcemic vitamin D-dependent rickets

1-alpha-hydroxylase deficiency · PDDRI

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

Lysosomal acid lipase deficiency

LAL deficiency · LALD

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

Mucopolysaccharidosis type 1

Alpha-L-iduronidase deficiency · MPS1

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

PGM1-CDG

CDG syndrome type It · CDG-It

Sanfilippo syndrome type B

MPS3B · MPSIIIB

Sanfilippo syndrome type C

HGSNAT deficiency · Heparan-alpha-glucosaminide N-acetyltransferase deficiency

Sanfilippo syndrome type D

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