Rare Disease Library

Congenital sodium diarrhea

Na-H exchanger 3 deficiency · CSD

Alacrimia-choreoathetosis-liver dysfunction syndrome

NGLY1 deficiency · NGLY1-CDDG

Alpha-N-acetylgalactosaminidase deficiency

NAGA deficiency · Schindler disease

Alpha-N-acetylgalactosaminidase deficiency type 3

NAGA deficiency type 3 · Schindler disease type 3

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Cernunnos-XLF deficiency

Cernunnos XLFD · Cernunnos deficiency

Complement component 3 deficiency

C3 deficiency

Dopamine beta-hydroxylase deficiency

DBH deficiency

Hawkinsinuria

4-HPPD deficiency · 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency

Heme oxygenase-1 deficiency

HO-1 deficiency

Histidinemia

HAL deficiency · HIS deficiency

HSD10 disease

2-methyl-3-hydroxybutyric aciduria · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

Hyperammonemia due to N-acetylglutamate synthase deficiency

NAGS deficiency

Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency

Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency · Hyperinsulinism due to SCHAD deficiency

Hypoxanthine-guanine phosphoribosyltransferase deficiency

HPRT deficiency · HPRT1 deficiency

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

LCHAD deficiency · LCHADD

Multiple mitochondrial dysfunctions syndrome type 1

NFU1 deficiency · MMDS1

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

HIBCH deficiency · Methacrylic aciduria

NIK deficiency

Primary immunodeficiency with multifaceted aberrant lymphoid immunity

Progressive familial intrahepatic cholestasis type 5

NR1H4 deficiency · PFIC5

Pyruvate dehydrogenase E3 deficiency

DLD deficiency · Dihydrolipoamide dehydrogenase deficiency

Sanfilippo syndrome type C

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

Xanthinuria type I

XDH deficiency · XO deficiency