Rare Disease Library

3-methylglutaconic aciduria type 1

3-methylglutaconyl-CoA hydratase deficiency · 3MG-CoA hydratase deficiency

2-methylbutyryl-CoA dehydrogenase deficiency

2-methylbutyric aciduria · Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency

3-hydroxy-3-methylglutaric aciduria

3-hydroxy-3-methylglutaryl-CoA lyase deficiency · HMG-CoA lyase deficiency

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

HMG-CoA synthase deficiency

3-hydroxyacyl-CoA dehydrogenase deficiency

Acatalasemia

Catalase deficiency

Acyl-CoA dehydrogenase 9 deficiency

ACAD9 deficiency

Acyl-CoA dehydrogenase deficiency

Adult Refsum disease

Classic Refsum disease · HMSN 4

Argininemia

Arginase 1 deficiency · Arginase deficiency

Aromatase deficiency

Congenital estrogen deficiency

Autosomal recessive dopa-responsive dystonia

Autosomal recessive Segawa syndrome · DYT5b

Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity

Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity · CD16 deficiency

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Carbamoyl-phosphate synthetase 1 deficiency

CPS1 deficiency · CPS1D

Carnitine palmitoyl transferase 1A deficiency

CPT1A deficiency · Carnitine palmitoyl transferase IA deficiency

Carnitine-acylcarnitine translocase deficiency

CACT deficiency

Carnosinase deficiency

Cerebrotendinous xanthomatosis

CTX · Sterol 27-hydroxylase deficiency

Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome

Hyaluronidase 2 deficiency · Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome

Coenzyme Q10 deficiency

Primary coenzyme Q10 deficiency · CoQ10 deficiency

Combined immunodeficiency due to CD27 deficiency

CD27 deficiency · Autosomal recessive lymphoproliferative disease due to CD27 deficiency

Common variable immunodeficiency phenotype due to CD19/CD81 deficiency

CVID phenotype due to CD19/CD81 deficiency · CD19 deficiency

Complement component 3 deficiency

C3 deficiency

Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome

CD55 deficiency · CHAPLE syndrome

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

CAH due to 17-alpha-hydroxylase deficiency · Combined 17-hydroxylase/17,20-lyase deficiency

Congenital lactase deficiency

Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

COX deficiency, French-Canadian type · Cytochrome C oxidase deficiency, French-Canadian type

Cystathioninuria

Cystathionase deficiency · Gamma-cystathionase deficiency

Dimethylglycine dehydrogenase deficiency

DMG dehydrogenase deficiency · DMGDH deficiency

Dopamine beta-hydroxylase deficiency

DBH deficiency

Fatty acyl-CoA reductase 1 deficiency

PFCRD · FAR1 deficiency

Fructose-1,6-bisphosphatase deficiency

FBPase deficiency · Fructose-1,6-diphosphatase deficiency

Fumaric aciduria

Fumarase deficiency

Glutaric acidemia type 3

Glutaric aciduria type 3 · Glutaryl-CoA oxidase deficiency

Glutaryl-CoA dehydrogenase deficiency

GA1 · GCDHD

GTP cyclohydrolase I deficiency

GTPCH deficiency · Hyperphenylalaninemia due to GTP cyclohydrolase deficiency

Heme oxygenase-1 deficiency

HO-1 deficiency

Histidinemia

HAL deficiency · HIS deficiency

HSD10 disease

2-methyl-3-hydroxybutyric aciduria · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

Hyaluronidase deficiency

MPS9 · MPSIX

Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

CA-VA deficiency

Hypocalcemic vitamin D-dependent rickets

1-alpha-hydroxylase deficiency · PDDRI

Hypoxanthine-guanine phosphoribosyltransferase deficiency

HPRT deficiency · HPRT1 deficiency

Isobutyryl-CoA dehydrogenase deficiency

Isobutyric aciduria

Isolated hyperchlorhidrosis

Carbonic anhydrase XII deficiency

Isovaleric acidemia

Isovaleric acid CoA dehydrogenase deficiency

Lesch-Nyhan syndrome

HPRT complete deficiency · HPRT deficiency grade IV