Disease Index

disease

congenital muscular dystrophy characterized by autosomal dominant inheritance that has material basis in heterozygous mutation in the LMNA gene on chromosome 1q22

medical condition

a rare childhood neurological syndrome characterized by seizures and progressive loss of speech typically in a child with previous age-appropriate development

Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs

human disease

Langerhans cell histiocytosis that occurs during adulthood

Langerhans cell histiocytosis that occurs during childhood

histiocytic and dendritic cell cancer that derives from the lymph nodes, derives from the skin, derives from the liver, derives from the spleen and derives from bones

disease involving clonal proliferation of Langerhans cells

congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration

This syndrome is characterized by severe growth retardation associated with immunodeficiency

autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities

human disease

human disease

laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus

Human disease

medical condition

laryngeal carcinoma that has material basis in squamous cells

congenital disorder of respiratory system

congenital disorder of upper respiratory system

medical condition

human disease

Laryngo-tracheo-esophageal cleft (LC) type 0 is a congenital respiratory tract anomaly characterized by a submucosal laryngo-tracheo-esophageal cleft with minor symptoms or an asymptomatic course

Laryngo-tracheo-esophageal cleft (LC) type 1 is a congenital respiratory tract anomaly characterized by a supraglottic, interarytenoid cleft above the vocal folds with moderate respiratory symptoms

Laryngo-tracheo-esophageal cleft (LC) type 2 is a congenital respiratory tract anomaly characterized by a cleft extending below the vocal folds into the cricoid cartilage, with swallowing disorders and lung infections