Disease Directory

Deafness-vitiligo-achalasia syndrome is a complex condition that affects multiple body systems, particularly hearing, skin pigmentation, and gastroint...

Dedifferentiated chondrosarcoma is an aggressive variant of chondrosarcoma that arises in the bones and is characterized by a dual component of low-gr...

Dedifferentiated liposarcoma is a high-grade subtype of soft tissue sarcoma that generally arises from well-differentiated liposarcoma, most often in...

Dedifferentiated solitary fibrous tumor is a type of soft tissue tumor that exhibits an abrupt transition to areas resembling high-grade sarcoma. This...

Deeah syndrome is a multi-system condition characterized by significant developmental challenges, severe global developmental delay, motor delay, and...

Deep seated dermatophytosis is a cutaneous infection marked by a deep folliculitis that primarily affects the legs. It is caused by a dermatophyte fun...

Defect in V-ATPase is a condition for which the scientific understanding is still emerging. At this time, the clinical features and underlying biologi...

The defect in conserved oligomeric Golgi complex is a condition that appears to impact cellular function, although specific details about its biologic...

Defective apolipoprotein b-100 is a condition that appears to affect lipid metabolism, likely influencing how the body processes and transports choles...

Deficiency anemia is a condition in which the body has a lower than normal number of healthy red blood cells, which can affect the delivery of oxygen...

Deficiency in anterior pituitary function - variable immunodeficiency syndrome is a very rare condition that affects hormonal regulation and the immun...

Deficiency of adenosine deaminase 2 is a condition that is defined by an alteration affecting a key enzyme involved in adenosine metabolism. The preci...

Deficiency of coenzyme q cytochrome c reductase is a condition that appears to affect multiple organ systems, likely due to impaired energy production...

Degenerative myopia is a condition characterized by an excessive elongation of the eye that can lead to serious complications, including posterior sta...

Dehydrated hereditary stomatocytosis is a very rare form of hemolytic anemia that results from defects in red blood cell ion permeability, leading to...

Dehydrated hereditary stomatocytosis 2 is a blood disorder that affects the red blood cells by altering their hydration and shape. This condition is c...

Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema is a disorder affecting red blood cell hydration and me...

Dehydration polycythemia is a condition defined by an abnormally concentrated red blood cell count that arises as a result of fluid loss rather than a...

Delayed membranous cranial ossification is a rare primary bone dysplasia that affects the development of the skull. Affected individuals are born with...

Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome is an extremely rare condition that is characterized by delayed speech developmen...