Rare Disease Library

TCR-alpha-beta-positive T-cell deficiency

TCR-alpha-beta+ T-cell 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

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Beta-mannosidosis

Beta-mannosidase deficiency

Beta-ureidopropionase deficiency

Beta-alanine synthase deficiency

Complement component 3 deficiency

C3 deficiency

Congenital bile acid synthesis defect type 4

2-methylacyl-CoA racemase deficiency · AMACR deficiency

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

Fucosidosis

Alpha-L-fucosidase deficiency

Gaucher disease

Acid beta-glucosidase deficiency · Glucocerebrosidase deficiency

Gray platelet syndrome

Alpha storage pool deficiency · GPS

Hypocalcemic vitamin D-dependent rickets

1-alpha-hydroxylase deficiency · PDDRI

Limbal stem cell deficiency

Mitochondrial myopathy with reversible cytochrome C oxidase deficiency

Benign COX deficiency · Infantile reversible cytochrome C oxidase deficiency myopathy

Mucopolysaccharidosis type 1

Alpha-L-iduronidase deficiency · MPS1

Neurodegenerative syndrome due to cerebral folate transport deficiency

Folate receptor alpha deficiency · Cerebral folate transport deficiency

T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency

T-B+ SCID due to IL-7Ralpha deficiency

T-cell immunodeficiency with epidermodysplasia verruciformis

T-cell immunodeficiency due to RHOH deficiency

Tay-Sachs disease

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

Transcobalamin I deficiency

Haptocorrin deficiency · TCI deficiency