Disease Index

human disease

urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine

amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine

medical condition

absence of olfactory bulbs and tracts development during the antenatal period

Human disease

Human disease

human disease

medical condition

human disease

human disease

congenital disorder of respiratory system

intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle

arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the TGFB3 gene on chromosome 14q24

severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has material basis in mutation in the DCLRE1C gene on chromosome 10p13

vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall

human disease

health problem

Arterial thoracic outlet syndrome (ATOS) is a form of thoracic outlet syndrome (TOS; see this term) that presents as unilateral upper extremity ischemia

connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta

abnormal, epithelial-lined connection between an artery and vein that is present at the time of birth

persistent flexure or contracture of a joint

congenital muscular dystrophy characterized by nonprogressive myopathy resulting in an arthrogryposis syndrome

human disease

human disease

Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy