Odonto chondrodysplasia is a very rare congenital skeletal dysplasia.
Key features of N-syndrome include malformations, ocular abnormalities, deafness, cryptorchidism, T-cell leukemia, hypospadias and spastic cerebral palsy.
Norrie disease is a dysplasia of the vitreous and retina. Due to its X-linked, recessive inheritance, female carriers remain symptom-free.
Nipah disease is a zoonotic disease triggered by the Nipah virus that has only recently been discovered.
The Nievergelt syndrome is a rare bone disease that belongs to the mesosomal dysplasia.
Renal cell carcinoma is a malignant tumor that arises from the renal tubular cells.
Niemann-Pick disease type C (NP-C) is a rare autosomal recessive neurodegenerative disease.
Non-tuberculous mycobacteria (NTM or MOTT) are a term for all mycobacteria that cause neither tuberculosis nor leprosy.
Non-24-hour sleep-wake syndrome is a rare circadian rhythm disorder.
Neutropenia refers to the lack of peripherally circulating neutrophilic granulocytes.
Neuronal ceroid lipofuscinosis is a group of inherited progressive degenerative brain diseases.
Neuronal ceroid lipofuscidosis type 2 (CLN2) is an autosomal recessive, neurodegenerative brain disease, belongs to the group of neuronal ceroid lipofuscinoses (NCL) and is a form of Batten disease.
Neuroectodermal melanolysosomal disease, also known as Elejalde syndrome (ES), is defined by dull, silvery hair, bronze staining of the sun-exposed skin, and severe neurological deficits in the patients.
Netherton syndrome is an autosomal recessive skin disorder.
Nephropathic cystinosis (also known as infantile cystinosis) is an autosomal recessive inherited lysosomal storage disease that leads to the deposition of cystine crystals in various organs.
As part of an adrenal insufficiency, the adrenal cortex does not work adequately. The disorder is classified in three forms.
Nasu-Hakola disease has been reported in approximately 200 cases worldwide and is a rare form of leukodystrophy characterized by progressive pre-senile dementia, frontal lobe syndrome, and repeated fractures of the upper and lower extremities due to polycystic bone lesions.
Narcolepsy is a neurological disorder that affects the sleep-wake cycle. It belongs to the hypersomnia with a central cause.
The Nager syndrome is characterized by the main features of mandibulo-facial dystosis and various preaxial limb defects.
Myhre syndrome is composed by facial dysmorphism, short stature, mental retardation, and hearing loss. Only a few cases have been described so far, and all were male.