• Netherton syndrome

    Netherton syndrome is an autosomal recessive skin disorder.

  • Nephropathic cystinosis

    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.

  • Adrenal insufficiency

    As part of an adrenal insufficiency, the adrenal cortex does not work adequately. The disorder is classified in three forms.

  • Nasu-Hakola disease

    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

    Narcolepsy is a neurological disorder that affects the sleep-wake cycle. It belongs to the hypersomnia with a central cause.

  • Nager syndrome

    The Nager syndrome is characterized by the main features of mandibulo-facial dystosis and various preaxial limb defects.

  • Myhre syndrome

    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

    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

    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.

  • Muscular dystrophy Duchenne

    The Duchenne muscular dystrophy (DMD) is defined as a disease of the musculature that is already apparent in childhood.

  • Multicentric reticulohistiocytosis

    Multicentric reticulohistiocytosis describes an extremely rare form of non-Langerhans cell histiocytosis.

  • Multiple myeloma

    Multiple myeloma is an incurable bone marrow malignancy that is belongs to the B-cell lymphomas.

  • Multiple epiphyseal dysplasia

    Multiple epiphyseal dysplasia refers to a heterogeneous group of very rare congenital diseases characterized by epiphyseal anomalies.

  • Mucormycosis

    Mucormycosis is a rare opportunistic fungal infection that primarily affects patients with neoplasms of the hematopoietic system.

  • Mucopolysaccharidosis VII

    Mucopolysaccharidosis type VII (also called Sly's disease) is the rarest form of lysosomal storage disease in the group of mucopolysaccharidoses.

  • Mucopolysaccharidosis type VI

    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 I

    Mucopolysaccharidosis 1 (MPS I) is a rare lysosomal storage disease from the group of mucopolysaccharidoses.

  • Mucopolysaccharidosis IV A

    Mucopolysaccharidosis IV A is a congenital metabolic disorder of mucopolysaccharides and is one of the lysosomal storage diseases.

  • Muir-Torre syndrome

    Muir-Torre syndrome is a rare familial and sporadic tumor disease that has been reported in 205 cases so far.

  • Muckle-Wells syndrome

    Muckle-Wells syndrome is a rare autoinflammatory disease that is classified as cryopyrin-associated periodic syndrome (CAPS).

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