Rare Disease Library

Gyrate atrophy of choroid and retina

HOGA · Hyperornithinemia

Adenine phosphoribosyltransferase deficiency

2,8-dihydroxyadenine urolithiasis · APRT deficiency

Adenosine monophosphate deaminase deficiency

AMP deaminase deficiency · Myoadenylate deaminase deficiency

ALG1-CDG

CDG syndrome type Ik · CDG-Ik

ALG12-CDG

CDG syndrome type Ig · CDG-Ig

ALG2-CDG

CDG syndrome type Ii · CDG-Ii

ALG3-CDG

CDG syndrome type Id · CDG-Id

ALG6-CDG

CDG syndrome type Ic · CDG-Ic

ALG8-CDG

CDG syndrome type Ih · CDG-Ih

ALG9-CDG

CDG syndrome type IL · CDG1L

Aminoacylase 1 deficiency

ACY1D · N-acyl-L-amino acid amidohydrolase deficiency

Aminoacylase deficiency

B4GALT1-CDG

Beta-1,4-galactosyltransferase deficiency · CDG syndrome type IId

Canavan disease

ACY2 deficiency · Aminoacylase 2 deficiency

Carnitine palmitoyl transferase 1A deficiency

CPT1A deficiency · Carnitine palmitoyl transferase IA deficiency

Carnitine palmitoyl transferase II deficiency, myopathic form

CPT2, myopathic form · CPTII, adult-onset form

Carnitine palmitoyltransferase II deficiency

CPT2 · CPTII

Carnitine-acylcarnitine translocase deficiency

CACT deficiency

Deficiency of adenosine deaminase 2

Adenosine deaminase 2 deficiency · ADA2 deficiency

DPAGT1-CDG

CDG syndrome type Ij · CDG-Ij

DPM1-CDG

CDG syndrome type Ie · CDG-Ie

Formiminoglutamic aciduria

FTCD deficiency · Formiminotransferase cyclodeaminase deficiency

Gamma-aminobutyric acid transaminase deficiency

GABA transaminase deficiency

Gamma-glutamyl transpeptidase deficiency

Glutathionuria · Gamma-glutamyl transferase deficiency

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

Ornithine decarboxylase deficiency · Bachmann-Bupp syndrome

Guanidinoacetate methyltransferase deficiency

GAMT deficiency

Hypermethioninemia due to glycine N-methyltransferase deficiency

Glycine N-methyltransferase deficiency · Hypermethioninemia due to GNMT deficiency

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

HHH syndrome · ORNT1 deficiency

Hypoxanthine-guanine phosphoribosyltransferase deficiency

HPRT deficiency · HPRT1 deficiency

L-Arginine:glycine amidinotransferase deficiency

AGAT deficiency

LCAT deficiency

Lecithin-cholesterol acyltransferase deficiency

Lipoyl transferase 1 deficiency

Lipoyl transferase 2 deficiency

Methionine adenosyltransferase I/III deficiency

MAT I/III deficiency · Mudd's disease

MGAT2-CDG

CDG syndrome type IIa · CDG-IIa

Monoamine oxidase A deficiency

Brunner syndrome

Mucolipidosis type II

I-cell disease · N-acetylglucosamine 1-phosphotransferase deficiency

Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency

Phosphoserine aminotransferase deficiency, prenatal form

Ornithine transcarbamylase deficiency

OCT deficiency · OTC deficiency

Phosphoserine aminotransferase deficiency, infantile/juvenile form

PSAT deficiency, infantile/juvenile form

Primary hyperoxaluria type 1

Glycolic aciduria · Peroxisomal alanine-glyoxylate aminotransferase deficiency

Succinyl-CoA:3-oxoacid CoA transferase deficiency

OXCT1 deficiency · SCOT deficiency

Tyrosinemia type 2

Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia

Xanthinuria type I

XDH deficiency · XO deficiency