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N-acetylglutamate synthase deficiency
N-acetylneuraminic acid storage disease see sialic acid storage disease
Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis
Naegeli syndrome see Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis
NAFD see Nager syndrome
NAGA deficiency see Schindler disease
Nager syndrome
NAGS deficiency see N-acetylglutamate synthase deficiency
NAIC see North American Indian childhood cirrhosis
Nail Diseases
nail-patella syndrome
Naito-Oyanagi disease see dentatorubral-pallidoluysian atrophy
NAME - Nevi, atrial myxoma, skin myxoma, ephelides syndrome see Carney complex
NANA storage disease see sialic acid storage disease
Nance-Insley syndrome see otospondylomegaepiphyseal dysplasia
Nance-Sweeney chondrodysplasia see otospondylomegaepiphyseal dysplasia
NAPB see hereditary neuralgic amyotrophy
narcolepsy
narcoleptic syndrome see narcolepsy
NARP see neuropathy, ataxia, and retinitis pigmentosa
Nasu-Hakola disease see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Nausea and Vomiting see cyclic vomiting syndrome
Navajo familial neurogenic arthropathy see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
Navajo neurohepatopathy see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
Navajo neuropathy see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
NB see neuroblastoma
NBCCS see Gorlin syndrome
NBIA, PLA2G6-related see infantile neuroaxonal dystrophy
NBIA1 see pantothenate kinase-associated neurodegeneration
NDI see nephrogenic diabetes insipidus
nemaline myopathy
nemaline myopathy with exclusively intranuclear rods see intranuclear rod myopathy
Nemoto disease see cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
neonatal hyperinsulinism see familial hyperinsulinism
neonatal onset multisystem inflammatory disease
Neonatal osseous dysplasia 1 see atelosteogenesis type 2
nephrogenic diabetes insipidus
nephropathy, Wilms tumor, and genital anomalies see Denys-Drash syndrome
Neural Tube Defects
Neuralgic Amyotrophy see hereditary neuralgic amyotrophy
neuraminidase deficiency with beta-galactosidase deficiency see galactosialidosis
neuritis with brachial predilection see hereditary neuralgic amyotrophy
Neuroacanthocytosis
Neuroaxonal dystrophy, juvenile-onset see pantothenate kinase-associated neurodegeneration
neuroaxonal dystrophy, Schindler type see Schindler disease
neuroaxonal leukodystrophy see hereditary diffuse leukoencephalopathy with spheroids
neuroblastoma
neurodegeneration with brain iron accumulation, PLA2G6-related see infantile neuroaxonal dystrophy
Neurodegeneration with Brain Iron Accumulation Type 1 see pantothenate kinase-associated neurodegeneration
neuroferritinopathy
Neurofibromatosis
neurofibromatosis type 1
neurofibromatosis type 1-like syndrome see Legius syndrome
neurofibromatosis type 2
neurogenic muscle weakness, ataxia, and retinitis pigmentosa see neuropathy, ataxia, and retinitis pigmentosa
neurohypophyseal diabetes insipidus
Neurologic Diseases
Neuromuscular Disorders
neuromyelitis optica
neuronal axonal dystrophy, Schindler type see Schindler disease
Neuronal Ceroid-Lipofuscinoses
Neuronal Cholesterol Lipidosis see Niemann-Pick disease
neuropathy, ataxia, and retinitis pigmentosa
neuropathy, giant axonal see giant axonal neuropathy
neutral 17-beta-hydroxysteroid oxidoreductase deficiency see 17-beta hydroxysteroid dehydrogenase 3 deficiency
neutral lipid storage disease with ichthyosis see Chanarin-Dorfman syndrome
neutral lipid storage disease with myopathy
Neutropenia
nevoid basal cell carcinoma syndrome see Gorlin syndrome
Newborn Screening
NF1 see neurofibromatosis type 1
NF2 see neurofibromatosis type 2
NFJ syndrome see Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis
NFJS see Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis
NFLS see Legius syndrome
NHD see polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
NIDDM with deafness see maternally inherited diabetes and deafness
Niemann-Pick disease
Niikawa-Kuroki syndrome see Kabuki syndrome
Nijmegen breakage syndrome
NKH see glycine encephalopathy
NLSDM see neutral lipid storage disease with myopathy
NNH see MPV17-related hepatocerebral mitochondrial DNA depletion syndrome
Noack syndrome see Pfeiffer syndrome
NOD see dentatorubral-pallidoluysian atrophy
NOG-related-symphalangism spectrum disorder see tarsal-carpal coalition syndrome
NOMID see neonatal onset multisystem inflammatory disease
non-distal tetrasomy 15q see isodicentric chromosome 15 syndrome
non-ketotic hyperglycinemia see glycine encephalopathy
non-phenylketonuric hyperphenylalaninemia see tetrahydrobiopterin deficiency
non-Shiga-like toxin-associated HUS see atypical hemolytic-uremic syndrome
non-Stx-HUS see atypical hemolytic-uremic syndrome
non-syndromic, non-chromosomal holoprosencephaly see nonsyndromic holoprosencephaly
non-syndromic, non-chromosomal HPE see nonsyndromic holoprosencephaly
Nonaka myopathy see inclusion body myopathy 2
nonbullous congenital ichthyosiform erythroderma
nonenteropathic HUS see atypical hemolytic-uremic syndrome
noninsulin-dependent diabetes mellitus with deafness see maternally inherited diabetes and deafness
Nonketotic Hyperglycinemia see glycine encephalopathy
nonkinesigenic choreoathetosis see familial paroxysmal nonkinesigenic dyskinesia
Nonne-Milroy lymphedema see Milroy disease
nonsyndromic deafness
nonsyndromic holoprosencephaly
nonsyndromic paraganglioma
Noonan syndrome
Noonan syndrome with multiple lentigines see multiple lentigines syndrome
noradrenaline deficiency see dopamine beta-hydroxylase deficiency
norepinephrine deficiency see dopamine beta-hydroxylase deficiency
Norio syndrome see Cohen syndrome
Norrie disease
North American Indian childhood cirrhosis
NPD see Niemann-Pick disease
nucleoside phosphorylase deficiency see purine nucleoside phosphorylase deficiency
NYS1 see X-linked infantile nystagmus
Nystagmus, Congenital see X-linked infantile nystagmus