Rare Disease Library

Gray platelet syndrome

Alpha storage pool deficiency · GPS

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

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

ALDH18A1-related De Barsy syndrome

Delta-1-pyrroline 5-carboxylate synthetase deficiency · Neurocutaneous syndrome, Bicknell type

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

Argininosuccinic aciduria

ASA deficiency · ASL deficiency

Aromatic L-amino acid decarboxylase deficiency

AADC deficiency

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

Citrullinemia type I

ASS deficiency · Argininosuccinate synthase deficiency

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Congenital adrenal hyperplasia due to cytochrome POR deficiency · POR deficiency

Congenital factor XI deficiency

Hemophilia C · PTA deficiency

Deficiency of adenosine deaminase 2

Adenosine deaminase 2 deficiency · ADA2 deficiency

Dopa-responsive dystonia due to sepiapterin reductase deficiency

Autosomal recessive sepiapterin reductase-deficient DRD · DRD due to SRD

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

Glycogen storage disease due to aldolase A deficiency

GSD due to aldolase A deficiency · GSD type 12

Glycogen storage disease due to phosphoglycerate mutase deficiency

Glycogen storage disease due to phosphoglycerate mutase 2 deficiency · GSD type 10

Glycogen storage disease due to phosphorylase kinase deficiency

GSD due to phosphorylase kinase deficiency · GSD type 9

Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

P5N deficiency · UMPH1 deficiency

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

Hypocalcemic vitamin D-dependent rickets

1-alpha-hydroxylase deficiency · PDDRI

L-Arginine:glycine amidinotransferase deficiency

AGAT deficiency

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

Sterol-C4-methyl oxidase deficiency · SMO deficiency

Mucopolysaccharidosis type 1

Alpha-L-iduronidase deficiency · MPS1

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

Neurodegenerative syndrome due to cerebral folate transport deficiency

Folate receptor alpha deficiency · Cerebral folate transport deficiency

Obesity due to pro-opiomelanocortin deficiency

POMC deficiency

Obesity due to prohormone convertase I deficiency

PCI deficiency

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase deficiency

Reticular dysgenesis

AK2 deficiency · De Vaal disease

Severe combined immunodeficiency due to adenosine deaminase deficiency

ADA deficiency · SCID due to adenosine deaminase deficiency

Short chain acyl-CoA dehydrogenase deficiency

ACADS deficiency · SCAD deficiency

Succinyl-CoA:3-oxoacid CoA transferase deficiency

OXCT1 deficiency · SCOT deficiency

Susceptibility to viral and mycobacterial infections due to STAT1 deficiency

STAT1 deficiency · Predisposition to severe viral infection due to STAT1 deficiency

TCR-alpha-beta-positive T-cell deficiency

TCR-alpha-beta+ T-cell deficiency