Rare Disease Library

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1

OBSOLETE: 18-hydroxylase deficiency · OBSOLETE: Aldosterone synthase deficiency

5-oxoprolinase deficiency

Oxoprolinuria due to oxoprolinase deficiency

Acatalasemia

Catalase deficiency

Alkaptonuria

Hereditary ochronosis · Homogentisic acid oxidase deficiency

Argininemia

Arginase 1 deficiency · Arginase deficiency

Autosomal recessive extra-oral halitosis

Methanethiol oxidase deficiency · MTO-deficiency

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Biotinidase deficiency

Juvenile-onset multiple carboxylase deficiency · Late-onset multiple carboxylase 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

Encephalopathy due to sulfite oxidase deficiency

Farber disease

Acid ceramidase deficiency · Farber lipogranulomatosis

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

Heme oxygenase-1 deficiency

HO-1 deficiency

Histidinemia

HAL deficiency · HIS deficiency

Hyaluronidase deficiency

MPS9 · MPSIX

Hyperprolinemia type 1

Proline oxidase deficiency

Isolated cytochrome C oxidase deficiency

Isolated COX deficiency · Isolated mitochondrial respiratory chain complex IV deficiency

Isolated sulfite oxidase deficiency

ISOD · Sulfocysteinuria

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

Sterol-C4-methyl oxidase deficiency · SMO deficiency

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

Monoamine oxidase A deficiency

Brunner syndrome

Myeloperoxidase deficiency

MPO deficiency

OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency

OBSOLETE: PHGDH deficiency

OBSOLETE: Alpha-1-antichymotrypsin deficiency

OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly

OBSOLETE: Hemolytic uremic syndrome without diarrhea with I factor anomaly · OBSOLETE: aHUS with I factor anomaly

OBSOLETE: C1 inhibitor deficiency

OBSOLETE: Cholesterol-ester transfer protein deficiency

OBSOLETE: CEPT deficiency · OBSOLETE: Familial hyperalphalipoproteinemia type I

OBSOLETE: Common variable immunodeficiency due to TNFR deficiency

OBSOLETE: CVID due to TNFR deficiency

OBSOLETE: Glycerol kinase deficiency, infantile form

OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset

OBSOLETE: Glycogenosis due to acid maltase deficiency, adult onset · OBSOLETE: GSD type 2, adulte onset

OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset

OBSOLETE: Glycogenosis due to acid maltase deficiency, juvenile onset · OBSOLETE: GSD type 2, juvenile onset

OBSOLETE: Immunoglobulin A1 deficiency

OBSOLETE: IgA1 deficiency

OBSOLETE: Immunoglobulin A2 deficiency

OBSOLETE: IgA2 deficiency

OBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiency

OBSOLETE: PEPCK1 deficiency

OBSOLETE: Phosphoenolpyruvate carboxykinase 2 deficiency

OBSOLETE: PEPCK2 deficiency

OBSOLETE: Recessive hereditary methemoglobinemia type 1

OBSOLETE: NADH-cytochrome b5reductase deficiency type 1 · OBSOLETE: Recessive congenital methemoglobinemia type 1

OBSOLETE: Recessive hereditary methemoglobinemia type 2

OBSOLETE: NADH-cytochrome b5reductase deficiency type 2 · OBSOLETE: Recessive congenital methemoglobinemia type 2

OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

OBSOLETE: 17b-hydroxysteroid dehydrogenase deficiency type 10 · OBSOLETE: 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency

OBSOLETE: Tay-Sachs disease, B1 variant

OBSOLETE: GM2 gangliosidosis, B1 variant · OBSOLETE: Hexosaminidase A deficiency, B1 variant

OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency

OBSOLETE: X-linked MSMD due to CYBB deficiency

OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

OBSOLETE: X-linked MSMD due to NEMO deficiency · OBSOLETE: X-linked MSMD due to IKBKG deficiency

Ornithine transcarbamylase deficiency

OCT deficiency · OTC deficiency

Peroxisomal acyl-CoA oxidase deficiency

Pseudo-NALD · Pseudo-neonatal adrenoleukodystrophy

Prolidase deficiency

Hyperimidodipeptiduria

Pseudo-Zellweger syndrome

Thiolase deficiency

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase deficiency