Fabry disease is a congenital metabolic disorder and is one of the lysosomal storage diseases.
Darier's disease is a hereditary skin disease with cornification disorder (hyperkeratosis).
Castleman's disease is understood as a hypertrophy of the lymph nodes with an angiofollicular lymphatic hyperplasia.
Ankylosing spondylitis is a chronic inflammatory rheumatic disease in the pelvis and spine.
Monosomy 18p describes a chromosomal disease in which a partial or complete deletion of the short arm of a chromosome 18 occurs.
Moebius syndrome is a rare congenital neurological disease whose main symptoms are facial paralysis and eye muscle paralysis. Additionally, abnormalities of the extremities and the trunk are conspicuous.
The microphthalmia, which is based on a disturbance of the eye development, refers to a rudimentary formation of one or both eyeballs.
Mevalonic aciduria describes the autosomal recessive inherited deficiency of mevalonate kinase (MVK). MVK is the first key enzyme in the biosynthetic pathway of cholesterol.
Vitamin B12-responive methylmalonic acidemia describes an autosomal recessive metabolic disorder that belongs to the group of organoacidopathies.
Methylmalonic acidemia with homocystinuria is a metabolic disease due to a congenital defect in vitamin B12-cobalamin metabolism.
Mesothelioma is a malignant tumor of the mesothelium that grows diffusely and occurs in the pleura, pericardium, peritoneum and man on the tunica vaginalis testis.
The type Verloes-David-Pfeiffer of mesomelen dysplasia, also called mesomelia synostosis syndrome (MSS), is caused by a contiguous gene deletion. Significant symptoms include advanced flexion of the forearms and thighs.
The type Langer of mesomelic dysplasia is characterized by severe disproportional dwarfism and mesomeler and rhizomelic shortening of the upper and lower limbs.
Melorheostosis refers to a disease in which a thickening of the bones, usualy in the extremities, is present.
Melnick-Needles osteodysplasia combines skeletal dysplasia (ligamentous ribs, bending of the long bones, sclerotherapy of the skull base) with characteristic facial features, including a hairy forehead, full cheeks, and pronounced microgia.
Meesmann corneal dystrophy is a rare superficial corneal dystrophy that is inherited as an autosomal dominant disorder.
MEDNIK is the acronym for mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma.
DR-TB (Drug-resistant tuberculosis) is a tuberculosis strain difficult to treat.
Meckel's Syndrome (FMD) describes a severe, multivisceral malformation syndrome that is usually lethal in the first few days of life, the main characteristics of which are renal cysts in combination with CNS development, liver pain, bile duct dysplasia and polydactyly.
The MRKH syndrome is characterized by aplasia of both the uterus and the upper two-thirds of the vagina.