Microphthalmia–dermal aplasia–sclerocornea syndrome (also known as MIDAS syndrome) is a condition characterized by linear skin lesions.It can be associated with HCCS.
List of articles in "Disease" category - Page 38
Idiopathic sclerosing mesenteritis
Idiopathic sclerosing mesenteritis (ISM) is a disease of the small intestine characterized by chronic inflammation and eventual fibrosis of the mesentery.The disease is rare and as of July 2010 had […]
3q29 microdeletion syndrome
3q29 microdeletion syndrome is a rare genetic disorder resulting from the deletion of a segment of chromosome 3. This syndrome was first described in 2005.
8p23.1 duplication syndrome
8p23.1 duplication syndrome is a rare genetic disorder caused by a duplication of a region from human chromosome 8. This duplication syndrome has an estimated prevalence of 1 in 64000 […]
Garrod’s tetrad
In medicine Garrod’s tetrad is a term named for British physician Archibald Garrod who introduced the phrase inborn errors of metabolism in a lecture in 1908.The tetrad comprises four inherited […]
Cat scratch disease
Cat scratch disease (CSD) also known as cat scratch fever Teeny’s Disease inoculation lymphoreticulosis and subacute regional lymphadenitis is a common and usually benign infectious disease caused by the fastidious […]
Oculomucocutaneous syndrome
Oculomucocutaneous syndrome is characterized by keratoconjunctivitis sicca and by scarring fibrosis metaplasia and shrinkage of the conjunctiva. It is a drug side effect observed in practolol and eperisone. It is […]
Killian–Jamieson diverticulum
A Killian–Jamieson diverticulum is a diverticulum of the esophagus just below the upper esophageal sphincter. Killian–Jamieson diverticula are seldom larger than 1.5 cm and are less frequent than Zenker’s diverticulum. […]
Congenital disorder of glycosylation type IIc
Congenital disorder of glycosylation type IIc or Leukocyte adhesion deficiency-2 (LAD2) is a type of leukocyte adhesion deficiency attributable to the absence of neutrophil sialyl-LewisX a ligand of P- and […]
Leukocyte adhesion deficiency-1
Leukocyte adhesion deficiency-1 (LAD1) is a rare and often fatal genetic disorder in humans.