Rare Disease Library

Xanthinuria type I

XDH deficiency · XO deficiency

5-oxoprolinase deficiency

Oxoprolinuria due to oxoprolinase deficiency

Acatalasemia

Catalase deficiency

Alkaline ceramidase 3 deficiency

Leukodystrophy due to alkaline ceramidase 3 deficiency · ACER3-related early childhood-onset progressive leukodystrophy

Alkaptonuria

Hereditary ochronosis · Homogentisic acid oxidase deficiency

Argininemia

Arginase 1 deficiency · Arginase deficiency

Aromatase deficiency

Congenital estrogen deficiency

Autosomal recessive extra-oral halitosis

Methanethiol oxidase deficiency · MTO-deficiency

Autosomal recessive spastic paraplegia type 26

GM2 synthase deficiency · SPG26

Beta-ketothiolase deficiency

3-ketothiolase deficiency · 3-oxothiolase deficiency

Beta-mannosidosis

Beta-mannosidase deficiency

Beta-ureidopropionase deficiency

Beta-alanine synthase 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

Complement component 3 deficiency

C3 deficiency

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

Asparagine synthetase deficiency

Cystathioninuria

Cystathionase deficiency · Gamma-cystathionase deficiency

Dopamine beta-hydroxylase deficiency

DBH deficiency

Farber disease

Acid ceramidase deficiency · Farber lipogranulomatosis

Fatal infantile cytochrome C oxidase deficiency

Fatal infantile COX deficiency · Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency

Fructose-1,6-bisphosphatase deficiency

FBPase deficiency · Fructose-1,6-diphosphatase deficiency

Fumaric aciduria

Fumarase deficiency

Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome

Ornithine decarboxylase deficiency · Bachmann-Bupp syndrome

Glutaric acidemia type 3

Glutaric aciduria type 3 · Glutaryl-CoA oxidase deficiency

GM3 synthase deficiency

ST3GAL5-CDG

Gyrate atrophy of choroid and retina

HOGA · Hyperornithinemia

Heme oxygenase-1 deficiency

HO-1 deficiency

Histidinemia

HAL deficiency · HIS deficiency

Hyaluronidase deficiency

MPS9 · MPSIX

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

HHH syndrome · ORNT1 deficiency

Hyperprolinemia type 1

Proline oxidase deficiency

Hypotonia-failure to thrive-microcephaly syndrome

LTC4 synthase deficiency · Leukotriene C4 synthase deficiency

Infantile-onset periodic fever-panniculitis-dermatosis syndrome

OTULIN-related autoinflammatory syndrome · OTULIN 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

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Crotonase deficiency · ECHS1D

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

Monoamine oxidase A deficiency

Brunner syndrome

Myeloperoxidase deficiency

MPO deficiency

Neurometabolic disorder due to serine deficiency

Serine deficiency

OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1

OBSOLETE: 18-hydroxylase deficiency · OBSOLETE: Aldosterone synthase 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

Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy

PNPO-related neonatal epileptic encephalopathy · Pyridoxal phosphate-dependent seizures