Rare Disease Library

Alpha delta granule deficiency

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

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

Acyl-CoA dehydrogenase 9 deficiency

ACAD9 deficiency

Adenine phosphoribosyltransferase deficiency

2,8-dihydroxyadenine urolithiasis · APRT deficiency

Adenylosuccinate lyase deficiency

ADSL deficiency · Adenylosuccinase deficiency

AICA-ribosiduria

5-amino-4-imidazole carboxamide ribosiduria · ATIC deficiency

Alpha-1-antitrypsin deficiency

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

Alpha-mannosidosis

Lysosomal alpha-D-mannosidase deficiency

Argininemia

Arginase 1 deficiency · Arginase deficiency

Argininosuccinic aciduria

ASA deficiency · ASL deficiency

Aromatase deficiency

Congenital estrogen deficiency

Aromatic L-amino acid decarboxylase deficiency

AADC deficiency

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

Chondrodysplasia with joint dislocations, gPAPP type

gPAPP deficiency

Citrullinemia type I

ASS deficiency · Argininosuccinate synthase deficiency

Classic galactosemia

GALT deficiency · Galactose-1-phosphate uridyltransferase deficiency

Congenital bile acid synthesis defect type 3

BASD3 · Oxysterol 7-alpha-hydroxylase deficiency

Congenital bile acid synthesis defect type 4

2-methylacyl-CoA racemase deficiency · AMACR deficiency

Deficiency of adenosine deaminase 2

Adenosine deaminase 2 deficiency · ADA2 deficiency

Epileptic encephalopathy with global cerebral demyelination

AGC1 deficiency · Mitochondrial aspartate-glutamate carrier 1 deficiency

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

Fucosidosis

Alpha-L-fucosidase deficiency

Galactokinase deficiency

GALK deficiency · GALK-D

Galactose epimerase deficiency

Epimerase deficiency galactosemia · GALE 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, late-onset

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

Glycogen storage disease due to glucose-6-phosphatase deficiency

G6P deficiency · GSD due to G6P deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

G6P translocase deficiency · G6PT deficiency

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

GM1 gangliosidosis

Beta-galactosidase-1 deficiency · GLB1 deficiency

Gray platelet syndrome

Alpha storage pool deficiency · GPS

GTP cyclohydrolase I deficiency

GTPCH deficiency · Hyperphenylalaninemia due to GTP cyclohydrolase deficiency

Guanidinoacetate methyltransferase deficiency

GAMT deficiency

Hemolytic anemia due to glucophosphate isomerase deficiency

Glucose-6-phosphate isomerase deficiency · GPI deficiency

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

Hypocalcemic vitamin D-dependent rickets

1-alpha-hydroxylase deficiency · PDDRI

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

HPRT deficiency, grade I · HPRT partial deficiency

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

L-Arginine:glycine amidinotransferase deficiency

AGAT deficiency

Lesch-Nyhan syndrome

HPRT complete deficiency · HPRT deficiency grade IV

Medium chain acyl-CoA dehydrogenase deficiency

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

Mucopolysaccharidosis type 1

Alpha-L-iduronidase deficiency · MPS1

Mucopolysaccharidosis type 4A

GALNS deficiency · Galactosamine-6-sulfatase deficiency

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

Neurodegenerative syndrome due to cerebral folate transport deficiency

Folate receptor alpha deficiency · Cerebral folate transport deficiency

Recurrent infections due to specific granule deficiency

Neutrophil-specific granule deficiency

Reticular dysgenesis

AK2 deficiency · De Vaal disease

Sanfilippo syndrome type B

MPS3B · MPSIIIB