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.
Myelofibrosis is a rare myeloproliferative disorder, in which a defect in the stem cells leads to an increased formation of new bone marrow and blood cells.
Myelodysplastic Syndrome (MDS) is a collective term for diseases of the bone marrow in which a hematopoietic disorder is present. The disorder usually affects several cell rows.
The Duchenne muscular dystrophy (DMD) is defined as a disease of the musculature that is already apparent in childhood.
Multicentric reticulohistiocytosis describes an extremely rare form of non-Langerhans cell histiocytosis.
Multiple myeloma is an incurable bone marrow malignancy that is belongs to the B-cell lymphomas.
Multiple epiphyseal dysplasia refers to a heterogeneous group of very rare congenital diseases characterized by epiphyseal anomalies.
Mucormycosis is a rare opportunistic fungal infection that primarily affects patients with neoplasms of the hematopoietic system.
Mucopolysaccharidosis type VII (also called Sly's disease) is the rarest form of lysosomal storage disease in the group of mucopolysaccharidoses.
Mucopolysaccharidosis type VI, also Maroteaux-Lamy syndrome (MPS VI), is a congenital metabolic disorder of mucopolysaccharides and is one of the lysosomal storage diseases.
Mucopolysaccharidosis 1 (MPS I) is a rare lysosomal storage disease from the group of mucopolysaccharidoses.
Mucopolysaccharidosis IV A is a congenital metabolic disorder of mucopolysaccharides and is one of the lysosomal storage diseases.
Muir-Torre syndrome is a rare familial and sporadic tumor disease that has been reported in 205 cases so far.
Muckle-Wells syndrome is a rare autoinflammatory disease that is classified as cryopyrin-associated periodic syndrome (CAPS).