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Urbach–Wiethe disease is inherited in an autosomal recessive manner. Urbach–Wiethe disease is a very rare recessive genetic disorder, with approximately 400 reported cases since its discovery. [1] [2] [3] It was first officially reported in 1929 by Erich Urbach and Camillo Wiethe, [4] [5] although cases may be recognized dating back as ...
Hypochondrogenesis is a severe genetic disorder causing malformations of bone growth. [1] The condition is characterized by a short body and limbs and abnormal bone formation in the spine and pelvis.
Urbach–Wiethe disease; Urban–Rogers–Meyer syndrome; Urban–Schosser–Spohn syndrome; Urea cycle enzymopathies; Uremia; Urethral obstruction sequence; Uridine monophosphate synthetase deficiency; Urinary calculi; Urinary tract neoplasm; Urioste–Martinez–Frias syndrome; Urocanase deficiency; Urogenital adysplasia; Urophathy distal ...
S.M., sometimes referred to as SM-046, is an American woman with a peculiar type of brain damage that physiologically reduces her ability to feel fear.First described by scientists in 1994, [1] she has had exclusive and complete bilateral amygdala destruction since late childhood as a consequence of Urbach–Wiethe disease.
Lipoid proteinosis, also known as Urbach–Wiethe disease Topics referred to by the same term This disambiguation page lists articles associated with the title Lipoid .
This category contains diseases and medical conditions named for those who first discovered or described them. Pages in category "Diseases named after discoverers" The following 132 pages are in this category, out of 132 total.
The system for classifying collagenopathies is changing as researchers learn more about the genetic causes of these disorders. The clinical features of the type II and XI collagenopathies vary among the disorders, but there is considerable overlap.
Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. [1]