List of articles in "Disease" category - Page 155

X-linked intellectual disability (previously known as X-linked mental retardation) refers to forms of intellectual disability which are specifically associated with X-linked recessive inheritance.As with most X-linked disorders males are more […]

Dopamine-responsive dystonia (DRD) also known as hereditary progressive dystonia with diurnal fluctuation Segawa’s disease or Segawa’s dystonia is a genetic movement disorder which usually manifests itself during early childhood at […]

Niemann–Pick disease SMPD1-associated refers to two different types of Niemann–Pick disease which are associated with the SMPD1 gene.There are approximately 1200 cases of NPA and NPB worldwide with the majority […]

Niemann–Pick type C is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes. Niemann–Pick type C strikes an estimated 1:150000 people. Approximately 50% of cases present before […]

Milroy’s disease is a familial disease characterized by lymphedema commonly in the legs caused by congenital abnormalities in the lymphatic system. Disruption of the normal drainage of lymph leads to […]

Gerodermia osteodysplastica (GO) also called geroderma osteodysplasticum and Walt Disney dwarfism is a rare autosomal recessive connective tissue disorder included in the spectrum of cutis laxa syndromes.Usage of the name […]

Injury of the thoracic aorta refers to any injury which affects the portion of the aorta which lies within the chest cavity. Injuries of the thoracic aorta are usually the […]

Spectrophobia (from Latin: spectrum n. specio an appearance form image of a thing; an apparition spectre) is a kind of specific phobia involving a morbid fear of mirrors.Catoptrophobia (from the […]

Pulmonary hypoplasia is incomplete development of the lungs resulting in an abnormally low number or size of bronchopulmonary segments or alveoli. A congenital malformation it most often occurs secondary to […]

Uterine clear-cell carcinoma (CC) is a rare form of endometrial cancer with distinct morphological features on pathology; it is aggressive and has high recurrence rate. Like uterine papillary serous carcinoma […]