Disease Directory

Congenital alveolar dysplasia due to TBX4 is a condition affecting lung development that is present from birth. It is characterized by abnormal format...

Congenital amegakaryocytic thrombocytopenia is associated with variants in the MPL gene, which plays a crucial role in platelet production. The inheri...

Congenital amegakaryocytic thrombocytopenia 1 is a rare inherited bone marrow failure syndrome that primarily affects the blood and hematologic system...

Congenital amyoplasia, also known as amyoplasia congenita, is a condition present at birth that primarily affects the development of skeletal muscles....

Congenital analbuminemia is a metabolic condition characterized by the marked reduction or absence of human serum albumin, a key protein that helps ma...

Congenital anemia is a condition present at birth in which there is a deficiency of red blood cells that can affect energy levels and overall health....

Congenital anomalies of kidney and urinary tract 1 is a condition characterized by developmental abnormalities affecting the kidneys and urinary tract...

Congenital anomalies of kidney and urinary tract 2 is a condition affecting the structure and function of the kidneys and urinary tract that is presen...

Congenital anomalies of kidney and urinary tract 3 (CAKUT3) is a rare condition that affects the normal development of the kidneys and urinary tract....

Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay is a condition that affe...

Congenital anomaly of hepatic vein is a condition in which the hepatic vein does not develop in the typical manner, potentially affecting the normal d...

Congenital anomalies of the kidney and urinary tract (CAKUT) are characterized by structural malformations that can lead to complications such as vesi...

Congenital anomaly of superior vena cava is a developmental malformation affecting the major vein that returns deoxygenated blood from the upper body...

Congenital anomaly of the great arteries is a structural heart condition in which the major arteries emerge abnormally from the heart. This condition...

Congenital anomaly of the inferior vena cava is a developmental condition affecting the major vein that returns blood from the lower parts of the body...

Congenital anomaly of the mitral subvalvular apparatus is a heart condition that affects the structure beneath the mitral valve. This congenital defec...

Congenital aortic valve insufficiency is a heart condition present at birth in which the aortic valve does not completely close, potentially affecting...

Congenital aortic valve stenosis is a heart condition in which the aortic valve is abnormally narrow, affecting blood flow from the heart into the aor...

Congenital aortopulmonary window is a heart defect present at birth characterized by an abnormal communication between the aorta and the pulmonary art...

Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome is a condition that affects the development of the eyes, resulting in multiple...