Rare Disease Library

Isolated sedoheptulokinase deficiency

Isolated SHPK deficiency

Isolated thyroid-stimulating hormone deficiency

Isolated thyrotropin deficiency · Isolated TSH deficiency

Isolated thyrotropin-releasing hormone deficiency

Isolated TRF deficiency · Isolated TRH deficiency

Lysosomal acid lipase deficiency

LAL deficiency · LALD

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

Sterol-C4-methyl oxidase deficiency · SMO deficiency

Mitochondrial trifunctional protein deficiency

TFP deficiency · TFPD

Moderate hemophilia A

Moderate congenital factor VIII deficiency · Moderate congenital F8 deficiency

Moderate hemophilia B

Moderate congenital F9 deficiency · Moderate congenital factor IX deficiency

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

Multiple mitochondrial dysfunctions syndrome type 2

BOLA3 deficiency · MMDS2

Myeloperoxidase deficiency

MPO deficiency

NAD(P)HX dehydratase deficiency

CARKD deficiency

NIK deficiency

Primary immunodeficiency with multifaceted aberrant lymphoid immunity

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

Obesity due to prohormone convertase I deficiency

PCI deficiency

OBSOLETE: Cholesterol-ester transfer protein deficiency

OBSOLETE: CEPT deficiency · OBSOLETE: Familial hyperalphalipoproteinemia type I

Ornithine transcarbamylase deficiency

OCT deficiency · OTC deficiency

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase deficiency

Pyruvate dehydrogenase E3 deficiency

DLD deficiency · Dihydrolipoamide dehydrogenase deficiency

Reticular dysgenesis

AK2 deficiency · De Vaal disease

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

Susceptibility to respiratory infections associated with CD8alpha chain mutation

Familial CD8 deficiency

Transcobalamin I deficiency

Haptocorrin deficiency · TCI deficiency

Transketolase deficiency

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

Tyrosinemia type 1

FAH deficiency · Fumarylacetoacetase deficiency

X-linked agammaglobulinemia

BTK-deficiency · Bruton type agammaglobulinemia

Xanthinuria type I

XDH deficiency · XO deficiency