Rare Disease Library

Neurodegenerative syndrome due to cerebral folate transport deficiency

Folate receptor alpha deficiency · Cerebral folate transport 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

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

Constitutional megaloblastic anemia with severe neurologic disease

DHFR deficiency · Dihydrofolate reductase deficiency

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

Familial hyperprolactinemia

Familial isolated prolactin receptor deficiency

Fucosidosis

Alpha-L-fucosidase deficiency

Gray platelet syndrome

Alpha storage pool deficiency · GPS

Hyperlysinemia

Hyperlysinemia type I · Lysine alpha-ketoglutarate reductase deficiency

Hypocalcemic vitamin D-dependent rickets

1-alpha-hydroxylase deficiency · PDDRI

Immunodeficiency due to CD25 deficiency

Interleukin-2 receptor alpha chain deficiency

Isolated follicle stimulating hormone deficiency

Isolated FSH deficiency

Laron syndrome

Complete growth hormone insensitivity · GH receptor deficiency

Mucopolysaccharidosis type 1

Alpha-L-iduronidase deficiency · MPS1

Short stature due to GHSR deficiency

Ghrelin receptor deficiency · Short stature due to growth hormone secretagogue receptor deficiency

Sterile multifocal osteomyelitis with periostitis and pustulosis

Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency · DIRA

TCR-alpha-beta-positive T-cell deficiency

TCR-alpha-beta+ T-cell deficiency