Rare Disease Library

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

Multiple mitochondrial dysfunctions syndrome type 1

NFU1 deficiency · MMDS1

Myeloperoxidase deficiency

MPO deficiency

NIK deficiency

Primary immunodeficiency with multifaceted aberrant lymphoid immunity

Obesity due to melanocortin 4 receptor deficiency

MC4R deficiency

Obesity due to pro-opiomelanocortin deficiency

POMC deficiency

Obesity due to prohormone convertase I deficiency

PCI deficiency

Ornithine transcarbamylase deficiency

OCT deficiency · OTC deficiency

Oxoglutaric aciduria

Alpha-ketoglutarate dehydrogenase deficiency

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Progressive familial intrahepatic cholestasis type 2

BSEP deficiency · PFIC2

Prolidase deficiency

Hyperimidodipeptiduria

Pseudo-Zellweger syndrome

Thiolase deficiency

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase deficiency

Pyruvate dehydrogenase E3 deficiency

DLD deficiency · Dihydrolipoamide dehydrogenase deficiency

Pyruvate dehydrogenase E3-binding protein deficiency

2-oxoglutarate complex deficiency · Branched chain alpha-ketoacid dehydrogenase complex deficiency

Reticular dysgenesis

AK2 deficiency · De Vaal disease

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Sanfilippo syndrome type D

GNS deficiency · Glucosamine N-acetyl-6-sulfatase deficiency

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

Transcobalamin I deficiency

Haptocorrin deficiency · TCI deficiency

Transketolase deficiency

TKT deficiency · Short stature-developmental delay-congenital heart defect syndrome

Trehalase deficiency

Isolated trehalose intolerance

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency

X-linked agammaglobulinemia

BTK-deficiency · Bruton type agammaglobulinemia

Xanthinuria type I

XDH deficiency · XO deficiency

Xp21 deletion syndrome

Del(X)(p21) · Xp21 contiguous gene deletion syndrome