GARD Rare Disease Listings

Rare Disease Database

Rare Disease Database GARD Rare Diseases Database
GARD Summary
N acetyltransferase deficiency

Also known as: N acetyltransferase 1 deficiency NAT1 deficiency Arylamine n-acetyltransferase 1 Acetyl-CoA:arylamine n-acetyltransferase

GARD Summary
N syndrome

Also known as: NSX Mental retardation, malformations, chromosome breakage, and development of T-cell leukemia

GARD Summary
N-acetylglutamate synthase deficiency

Also known as: Hyperammonemia due to N-Acetylglutamate Synthetase Deficiency NAGS deficiency NAG synthetase deficiency N-acetyl glutamate synthetase deficiency

GARD Summary
NADH cytochrome B5 reductase deficiency

Also known as: Autosomal recessive methemoglobinemia Methemoglobinemia due to deficiency of methemoglobin reductase NADH-dependent methemoglobin reductase deficiency Diaphorase deficiency NADH diaphorase deficiency NADH methemoglobin reductase deficiency

GARD Summary
Naegeli syndrome

Also known as: Naegeli-Franceschetti-Jadassohn syndrome NFJ syndrome Reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy NFJS

GARD Summary
Nager acrofacial dysostosis

Also known as: Mandibulofacial dysostosis, Treacher Collins type, with limb anomalies Nager syndrome AFD, Nager type Preaxial acrofacial dysostosis Nager acrofacial dysostosis syndrome Split hand deformity-mandibulofacial dysostosis Acrofacial dysostosis 1, Nager type

GARD Summary
Naguib-Richieri-Costa syndrome

Also known as: Hypertelorism hypospadias polysyndactyly syndrome Acrofrontofacionasal dysostosis, severe AFFN dysostosis 2 Naguib syndrome

GARD Summary
Nail-patella syndrome

Also known as: NPS 1 Onychoosteodysplasia Turner-Kieser syndrome Fong disease Osteo-Onychodysplasia Arthro-Onychodysplasia

GARD Summary
Nance-Horan syndrome

Also known as: Cataract dental syndrome Cataract X-linked with Hutchinsonian teeth Mesiodens cataract syndrome

GARD Summary
Narcolepsy

Also known as: Narcoleptic syndrome Gelineau syndrome Gelineau's syndrome Narcolepsy-cataplexy syndrome Paroxysmal sleep

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