Disease Directory

Distal trisomy 9q is a chromosomal anomaly resulting from the partial trisomy of the long arm of chromosome 9. It is characterized by a constellation...

Distomatosis, also known as distomiasis or fluke infection, is a group of parasitic infections caused by flatworms that live in contact with epithelia...

Diverticulosis of bowel, hernia, and retinal detachment is a syndromic intestinal malformation that combines features of marfanoid habitus with viscer...

Dominant beta-thalassemia is a hereditary blood disorder that primarily affects the body’s ability to produce normal hemoglobin, resulting in moderate...

Dominant pericentral pigmentary retinopathy is a type of retinitis pigmentosa that affects the retina, leading to characteristic pigmentary changes an...

Dopa-responsive dystonia is a neurometabolic disorder characterized by movement difficulties, particularly dystonia with a marked fluctuation in sympt...

Dopa-responsive dystonia due to sepiapterin reductase deficiency is a very rare neurometabolic disorder that primarily affects motor control and cogni...

Dopaminergic neuroblastoma is a type of cancer that originates in nerve tissue and is characterized by increased dopamine excretion. This condition is...

Dorsal spinal cord lipoma is a rare lipomatous malformation that involves an abnormal fat deposit attached to the dorsal aspect of the spinal cord, al...

Double outlet left ventricle (DOLV) is an extremely rare congenital heart malformation in which both the aorta and pulmonary artery predominantly aris...

Double outlet right ventricle is a congenital cardiac anomaly in which both the aorta and pulmonary artery originate largely from the right ventricle....

Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy is a complex congenital heart condition characterize...

Double outlet right ventricle with non-committed subpulmonary ventricular septal defect is a congenital heart anomaly that affects the structure of th...

Double outlet right ventricle with subaortic or doubly committed ventricular septal defect is a congenital heart malformation in which both great arte...

Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis is a congenital heart condition in...

Double outlet right ventricle with subpulmonary ventricular septal defect is a congenital heart defect that affects the structure and function of the...

Double uterus-hemivagina-renal agenesis syndrome is a rare congenital anomaly affecting the urogenital system, characterized by the presence of a dupl...

Double-orifice mitral valve is a congenital heart condition characterized by an abnormal structure of the mitral valve, in which the valve presents wi...

Dowling-Degos disease 3 is a disorder primarily affecting the skin, with characteristic alterations in pigmentation. Individuals typically show a dist...

Doxorubicin induced cardiomyopathy is a condition characterized by damage to the heart muscle that develops following treatment with the chemotherapy...