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Y-Z
N-acetylglutamate synthase deficiency
N-acetylneuraminic acid storage disease
see
sialic acid storage disease
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
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
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
Published: February 11, 2013