Rare Disease Library

Hypoplasminogenemia

Plasminogen deficiency type 1

ALDH18A1-related De Barsy syndrome

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

Alpha-N-acetylgalactosaminidase deficiency type 1

NAGA deficiency type 1 · Schindler disease type 1

Alpha-N-acetylgalactosaminidase deficiency type 2

Adult-onset Alpha-N-acetylgalactosaminidase deficiency · Kanzaki disease

Alpha-N-acetylgalactosaminidase deficiency type 3

NAGA deficiency type 3 · Schindler disease type 3

Aminoacylase 1 deficiency

ACY1D · N-acyl-L-amino acid amidohydrolase deficiency

Aminoacylase deficiency

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase 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

Congenital plasminogen activator inhibitor type 1 deficiency

Congenital PAI-1 deficiency

Crigler-Najjar syndrome type 1

Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 · Bilirubin-UGT deficiency type 1

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia

G6P deficiency type 1a · GSD type 1a

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

G6P translocase deficiency · G6PT deficiency

Glycogen storage disease due to phosphoglycerate mutase deficiency

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

Growth delay due to insulin-like growth factor type 1 deficiency

Growth delay-hearing loss-intellectual disability syndrome · IGF-1 deficiency

Heme oxygenase-1 deficiency

HO-1 deficiency

Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency

P5N deficiency · UMPH1 deficiency

Hemophilia B Leyden

Factor IX deficiency, Leyden type · F9 deficiency, Leyden type

HSD10 disease, atypical type

HSD10 deficiency, atypical type · Syndromic X-linked intellectual disability type 10

HSD10 disease, infantile type

2-methyl-3-hydroxybutyric aciduria, classic type · 2-methyl-3-hydroxybutyric aciduria, infantile type

HSD10 disease, neonatal type

2-methyl-3-hydroxybutyric aciduria, neonatal type · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type

Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome

Beck-Fahrner syndrome · TET3-related Beck-Fahrner syndrome

Mitochondrial trifunctional protein deficiency

TFP deficiency · TFPD

Multiple acyl-CoA dehydrogenase deficiency, mild type

MAD deficiency, mild type · MADD, mild type

Obesity due to pro-opiomelanocortin deficiency

POMC deficiency

Obesity due to prohormone convertase I deficiency

PCI deficiency

Pseudo-Zellweger syndrome

Thiolase deficiency

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase deficiency

Pyruvate carboxylase deficiency, benign type

Pyruvate carboxylase deficiency type C

Pyruvate carboxylase deficiency, infantile type

Pyruvate carboxylase deficiency type A

Pyruvate carboxylase deficiency, severe neonatal type

Pyruvate carboxylase deficiency type B

Transcobalamin I deficiency

Haptocorrin deficiency · TCI deficiency

Transketolase deficiency

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