Donnai–Barrow syndrome is a genetic disorder first described by Dian Donnai and Margaret Barrow in 1993. It is associated with LRP2. It is an inherited (genetic) disorder that affects many […]
List of articles in "Disease" category - Page 32
Desmin-related myofibrillar myopathy
Desmin-related myofibrillar myopathy is a subgroup of the myofibrillar myopathy diseases and is the result of a mutation in the gene that codes for desmin which prevents it from forming […]
Retinal vasculitis
Retinal vasculitis is inflammation of the vascular branches of the retinal artery caused either by primary ocular disease processes or as a specific presentation of any systemic form of vasculitis […]
MBL deficiency
MBL deficiency refers to Mannan-binding lectin pathway components such as MBL2.It is believed to have a prevalence of 20%-30%. These polymorphisms may increase vulnerability to infectious disease.
Babinski–Nageotte syndrome
Babinski–Nageotte syndrome sometimes called Babinski syndrome is an alternating brainstem syndrome. It occurs when there is damage to the dorsolateral or posterior lateral medulla oblongata. Hence it is also called […]
Cranio–lenticulo–sutural dysplasia
Cranio–lenticulo–sutural dysplasia (CLSD or Boyadjiev-Jabs syndrome) is a neonatal/infancy disease caused by a disorder in the 14th chromosome. It is an autosomal recessive disorder meaning that both recessive genes must […]
Brody myopathy
Brody myopathy is a genetic disease.It can be associated with ATP2A1.It was characterized in 1969.
Kufor–Rakeb syndrome
Kufor–Rakeb syndrome is an autosomal recessive disorder.It can be associated with ATP13A2
Goblet cell carcinoid
The goblet cell carcinoid abbreviated GCC and also known as crypt cell carcinoma and neuroendocrine tumour with goblet cell differentiation is a rare biphasic gastrointestinal tract tumour that consists of […]
Geriatric trauma
Geriatric trauma refers to a traumatic injury that occurs to an elderly person. The three prevailing causes of traumatic death in the elderly are falls (which account for 40% of […]