Rare Disease Library

Xp21 deletion syndrome

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

5-oxoprolinase deficiency

Oxoprolinuria due to oxoprolinase deficiency

Argininemia

Arginase 1 deficiency · Arginase deficiency

Carnosinase deficiency

Complement component 3 deficiency

C3 deficiency

Congenital enteropathy due to enteropeptidase deficiency

Congenital enterokinase deficiency

D-glyceric aciduria

D-glycerate kinase deficiency · D-glyceric acidemia

DK1-CDG

Dolichol kinase deficiency · Hypotonia and ichthyosis due to dolichol phosphate deficiency

Essential fructosuria

Fructokinase deficiency · Ketohexokinase deficiency

Familial LCAT deficiency

Complete LCAT deficiency · FLD

Galactokinase deficiency

GALK deficiency · GALK-D

Glycerol kinase deficiency

Glycerol kinase deficiency, adult form

Glycerol kinase deficiency, juvenile form

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

GSD due to phosphoglycerate kinase 1 deficiency · Glycogenosis due to phosphoglycerate kinase 1 deficiency

Glycogen storage disease due to phosphorylase kinase deficiency

GSD due to phosphorylase kinase deficiency · GSD type 9

Hydroxykynureninuria

Kynureninase deficiency · Xanthurenic aciduria

Immunodeficiency with factor I anomaly

Complete factor I deficiency

Isolated complex I deficiency

Isolated NADH-coenzyme Q reductase deficiency · Isolated NADH-ubiquinone reductase deficiency

Isolated complex III deficiency

Isolated CoQ-cytochrome C reductase deficiency · Isolated coenzyme Q-cytochrome C reductase deficiency

Isolated glycerol kinase deficiency

Hyperglycerolemia

Lathosterolosis

Sterol C5-desaturase deficiency

Lesch-Nyhan syndrome

HPRT complete deficiency · HPRT deficiency grade IV

Mevalonate kinase deficiency

MKD

Mevalonic aciduria

Complete mevalonate kinase deficiency · MVA

Mitochondrial DNA depletion syndrome, hepatocerebral form

mtDNA depletion syndrome, hepatocerebral form · Deoxyguanosine kinase deficiency

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Crotonase deficiency · ECHS1D

OBSOLETE: Glycerol kinase deficiency, infantile form

Primary hyperoxaluria type 2

D-glycerate dehydrogenase deficiency · L-glyceric aciduria

Pyruvate dehydrogenase deficiency

PDH · PDHC

Pyruvate dehydrogenase E2 deficiency

Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency · Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency

Pyruvate dehydrogenase E3-binding protein deficiency

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

Sarcosinemia

Sarcosine dehydrogenase complex deficiency