Rare Disease Library

Familial apolipoprotein C-II deficiency

Familial apoC-II deficiency · Familial APOC2 deficiency

Acyl-CoA dehydrogenase 9 deficiency

ACAD9 deficiency

Adenine phosphoribosyltransferase deficiency

2,8-dihydroxyadenine urolithiasis · APRT deficiency

Adenylosuccinate lyase deficiency

ADSL deficiency · Adenylosuccinase deficiency

AICA-ribosiduria

5-amino-4-imidazole carboxamide ribosiduria · ATIC deficiency

Apolipoprotein A-I deficiency

ApoA-I deficiency · Familial apoA-I deficiency

Argininosuccinic aciduria

ASA deficiency · ASL deficiency

Aromatic L-amino acid decarboxylase deficiency

AADC deficiency

Ataxia with vitamin E deficiency

AVED · Ataxia with isolated vitamin E deficiency

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

Citrullinemia type I

ASS deficiency · Argininosuccinate synthase deficiency

Combined immunodeficiency due to ITK deficiency

ITK deficiency · Autosomal recessive lymphoproliferative disease due to ITK deficiency

Complement component 3 deficiency

C3 deficiency

Congenital bile acid synthesis defect type 4

2-methylacyl-CoA racemase deficiency · AMACR deficiency

Congenital factor II deficiency

Dysprothrombinemia · Hypoprothrombinemia

Deficiency of adenosine deaminase 2

Adenosine deaminase 2 deficiency · ADA2 deficiency

Dopamine beta-hydroxylase deficiency

DBH deficiency

Epileptic encephalopathy with global cerebral demyelination

AGC1 deficiency · Mitochondrial aspartate-glutamate carrier 1 deficiency

Familial apolipoprotein A5 deficiency

Familial apolipoprotein A-V deficiency · Familial APOA5 deficiency

Familial benign copper deficiency

Familial benign hypocupremia

Familial glucocorticoid deficiency

Familial GPIHBP1 deficiency

Familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency

Familial hyperprolactinemia

Familial isolated prolactin receptor deficiency

Familial LCAT deficiency

Complete LCAT deficiency · FLD

Familial lipase maturation factor 1 deficiency

Familial LMF1 deficiency

Familial lipoprotein lipase deficiency

LPL deficiency

Fatty acyl-CoA reductase 1 deficiency

PFCRD · FAR1 deficiency

Formiminoglutamic aciduria

FTCD deficiency · Formiminotransferase cyclodeaminase deficiency

Fructose-1,6-bisphosphatase deficiency

FBPase deficiency · Fructose-1,6-diphosphatase deficiency

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

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

Histidinemia

HAL deficiency · HIS deficiency

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

Immunodeficiency by defective expression of MHC class II

MHC class II deficiency · Bare lymphocyte syndrome type 2

L-Arginine:glycine amidinotransferase deficiency

AGAT deficiency

Lysosomal acid lipase deficiency

LAL deficiency · LALD

Medium chain acyl-CoA dehydrogenase deficiency

ACADM deficiency · Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency

Methionine adenosyltransferase I/III deficiency

MAT I/III deficiency · Mudd's disease

Mucopolysaccharidosis type 6

ARSB deficiency · ASB deficiency

Multiple mitochondrial dysfunctions syndrome type 3

IBA57 deficiency · MMDS3

Multiple mitochondrial dysfunctions syndrome type 5

ISCA1 deficiency · MMDS5

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Pyruvate dehydrogenase E3 deficiency

DLD deficiency · Dihydrolipoamide dehydrogenase deficiency

Reticular dysgenesis

AK2 deficiency · De Vaal disease

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

Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

ASCT1 deficiency · Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

Susceptibility to respiratory infections associated with CD8alpha chain mutation

Familial CD8 deficiency