N
- NADH cytochrome B5 reductase deficiency
- NAIT
- NALD
- NAM
- NAO syndrome
- NBIA1
- NEDMIAL
- NEMO deficiency syndrome
- NEMO mutation with immunodeficiency
- Nablus mask-like facial syndrome
- Naegeli syndrome
- Naegeli-Franceschetti-Jadassohn syndrome
- Nager Syndrome
- Nager acrofacial dysostosis
- Naguib-Richieri-Costa syndrome
- Nail dysplasia, isolated congenital
- Nail patella syndrome
- Nail-Patella Syndrome
- Nakajo syndrome
- Nakamura Osame syndrome
- Nance-Horan syndrome
- Narcolepsy
- Narrow oral fissure short stature cone shaped epiphyses
- Nasal cavity cancer, childhood
- Nasodigitoacoustic syndrome
- Nasopalpebral lipoma coloboma syndrome
- Nasopharyngeal cancer, childhood
- Nasopharyngeal carcinoma
- Natal teeth, intestinal pseudoobstruction and patent ductus
- Nathalie syndrome
- Native American myopathy
- Navajo neurohepatopathy
- Navajo poikiloderma
- Naxos disease
- Necrotizing Autoimmune Myopathy
- Necrotizing enterocolitis
- Necrotizing fasciitis
- Negative rheumatoid factor polyarthritis
- Nelson syndrome
- Nemaline myopathy
- Nemaline myopathy 1
- Nemaline myopathy 2
- Nemaline myopathy 3
- Nemaline myopathy 4
- Nemaline myopathy 5
- Nemaline myopathy 6
- Neonatal adrenoleukodystrophy
- Neonatal hemochromatosis
- Neonatal herpes
- Neonatal intrahepatic cholestasis caused by citrin deficiency
- Neonatal meningitis
- Neonatal onset multisystem inflammatory disease
- Neonatal ovarian cyst
- Neonatal progeroid syndrome
- Neonatal stroke
- Neonatal systemic lupus erythematosus
- Nephrogenic diabetes insipidus
- Nephrogenic diabetes insipidus, x-linked
- Nephronophthisis 1
- Nephronophthisis familial adult spastic quadriparesis
- Nephropathic cystinosis
- Nephropathy deafness hyperparathyroidism
- Nephropathy familial with hyperuricemia
- Nephrosis deafness urinary tract digital malformation
- Nephrotic syndrome ocular anomalies
- Nephrotic syndrome, idiopathic, steroid-resistant
- Nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor
- Netherton syndrome
- Neu Laxova syndrome
- Neuhauser Daly Magnelli syndrome
- Neuhauser Eichner Opitz syndrome
- Neural crest tumor
- Neuraminidase deficiency
- Neurilemmomatosis
- Neurilemmomatosis congenital cutaneous
- Neurinomatosis
- Neuroacanthocytosis
- Neuroaxonal dystrophy renal tubular acidosis
- Neuroaxonal dystrophy, infantile
- Neuroblastoma
- Neurocutaneous melanosis
- Neurodegeneration with Brain Iron Accumulation (NBIA)
- Neurodegeneration with brain iron accumulation type 1
- Neurodevelopmental Disorder with severe Motor Impairment and Absent Language
- Neuroectodermal endocrine syndrome
- Neuroendocrine Cell Hyperplasia of Infancy
- Neuroendocrine Tumor
- Neuroendocrine carcinoma of the cervix
- Neuroepithelioma
- Neurofaciodigitorenal syndrome
- Neuroferritinopathy
- Neurofibromatosis
- Neurofibromatosis 1 (NF1)
- Neurofibromatosis 2 (NF2)
- Neurofibromatosis type 1
- Neurofibromatosis type 2
- Neurofibromatosis type 3
- Neurofibrosarcoma
- Neurogenic diabetes insipidus
- Neurohypophyseal diabetes insipidus
- Neuroleptic malignant syndrome
- Neuromuscular sarcoidosis
- Neuromyelitis Optica
- Neuromyelitis optica spectrum disorder
- Neuronal Ceroid Lipofuscinosis
- Neuronal Intestinal Dysplasia
- Neuronal ceroid lipofuscinosis 5
- Neuronal ceroid lipofuscinosis, late-infantile
- Neuronal interstitial dysplasia
- Neuronal intranuclear hyaline inclusion disease
- Neuronal intranuclear inclusion disease
- Neuropathy ataxia retinitis pigmentosa syndrome
- Neuropathy hereditary sensory and autonomic type 1
- Neuropathy hereditary sensory type 1
- Neuropathy motor sensory type 2 deafness mental retardation
- Neuropathy sensory spastic paraplegia
- Neuropathy, congenital, with arthrogryposis multiplex
- Neuropathy, distal hereditary motor, Jerash type
- Neuropathy, hereditary motor and sensory, LOM type
- Neuropathy, hereditary motor and sensory, Okinawa type
- Neuropathy, hereditary motor and sensory, Russe type
- Neuropathy, hereditary sensory, type IIc
- Neuropathy, hereditary sensory, type Id
- Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive
- Neurosarcoidosis
- Neutral lipid storage disease
- Neutral lipid storage disease with myopathy
- Neutropenia
- Neutropenia chronic familial
- Neutropenia lethal congenital with eosinophilia
- Neutropenia monocytopenia deafness
- Neutropenia, nonimmune chronic idiopathic, of adults
- Neutrophil immunodeficiency syndrome
- Nevo syndrome
- Nevoid basal cell carcinoma syndrome
- Nevus of ota retinitis pigmentosa
- Newborn Screening Disorders
- Newfoundland rod-cone dystrophy
- neuronopathy
