Alpha-thalassemia (α-thalassemia α-thalassaemia) is a form of thalassemia involving the genes HBA1 and HBA2. Alpha-thalassemia is due to impaired production of 123 or 4 alpha globin chains leading to a […]
List of articles in "Disease" category - Page 329
Familial hemiplegic migraine
Familial hemiplegic migraine (FHM) is an autosomal dominant classical migraine subtype that typically includes hemiparesis (weakness of half the body) which can last for hours days or weeks. It can […]
Dural arteriovenous fistula
A dural arteriovenous fistula (DAVF) not to be confused with dural arteriovenous malformation (DAVM) is an abnormal direct connection (fistula) between a meningeal artery and a meningeal vein or dural […]
Spondylolysis
Spondylolysis is a defect of a vertebra. More specifically it is defined as a defect in the pars interarticularis of the vertebral arch. The great majority of cases occur in […]
Ventriculitis
Ventriculitis is the inflammation of the ventricles in the brain. The ventricles are responsible for containing and circulating cerebrospinal fluid throughout the brain. Ventriculitits is caused by infection of the […]
Progressive familial intrahepatic cholestasis
Progressive familial intrahepatic cholestasis (PFIC) refers to a group of familial cholestatic conditions caused by defects in biliary epithelial transporters. The clinical presentation usually occurs first in childhood with progressive […]
Oral torus
An oral torus is a lesion made of compact bone and occurs along the palate or the mandible inside the mouth. The palatal torus or torus palatinus occurs along the […]
Photic sneeze reflex
The photic sneeze reflex (also known as photoptarmosis colloquially known as sun sneezing) is a condition of uncontrollable sneezing in response to numerous stimuli such as looking at bright lights […]
Jarisch-Herxheimer reaction
The Jarisch-Herxheimer reaction is a reaction to endotoxins released by the death of harmful organisms within the body.
Autosomal recessive multiple epiphyseal dysplasia
Autosomal recessive multiple epiphyseal dysplasia (ARMED) also called epiphyseal dysplasia multiple 4 (EDM4) multiple epiphyseal dysplasia with clubfoot or –with bilayered patellae is an autosomal recessive congenital disorder affecting cartilage […]