Disease Directory

Acantholytic variant squamous cell breast carcinoma is a type of cancer that starts in the breast tissue. It is defined by the formation of squamous c...

This syndrome is recognized by the presence of acanthosis nigricans (dark, thickened patches of skin), insulin resistance (a condition where the body...

Acatalasia is a rare congenital disorder that results from a deficiency in erythrocyte catalase, the enzyme responsible for breaking down hydrogen per...

Accessory pancreas is a rare condition in which small amounts of pancreatic tissue are found in areas other than the usual location of the pancreas. T...

Accessory tricuspid valve tissue is a rare heart condition that people are born with. It involves extra tissue on the tricuspid valve, one of the hear...

Aceruloplasminemia is an adult-onset condition where iron builds up in the brain. This buildup causes various problems, including anemia, retinal dege...

Acetazolamide-responsive myotonia is a rare form of potassium-aggravated myotonia (PAM) where irregular muscle contractions cause stiffness and discom...

Achalasia-microcephaly syndrome is an extremely rare genetic condition that has been reported in only a few families. It is marked by a small head siz...

Achalasia, familial esophageal is a rare condition that occurs as a result of an inherited genomic modification. This condition falls under the broade...

Achalasia-progeroid syndrome is a rare condition that is not yet fully understood. It has been cataloged with the OMIM identifier OMIM:621123 and has...

Acheiria, also known as congenital absence of hand, is a rare condition in which one hand does not develop during pregnancy. This congenital anomaly i...

Information about the overview is currently limited for this condition. Acheiria, bilateral, also known as congenital absence of hand, bilateral, is a...

Acheiria, unilateral is a rare congenital condition in which a hand does not develop on one side. It is also known as congenital absence of hand, unil...

Acheiropody is an extremely rare developmental disorder present from birth. It is characterized by the complete absence of the distal parts of the arm...

Achondrogenesis is a rare group of lethal skeletal dysplasias. It is characterized by a deficiency in the process that forms bone (endochondral ossifi...

Achondrogenesis type IA (ACG1A) is a very rare skeletal condition that affects bone development. It is a type of skeletal dysplasia that leads to dwar...

Achondrogenesis type IB is a very rare skeletal dysplasia that affects the development of bones in the body. It is marked by very short arms and legs...

Achondrogenesis type II (also known as achondrogenesis, Langer-Saldino type, or ACG2) is a very rare skeletal disorder that affects the development of...

Achondroplasia is a skeletal dysplasia that primarily affects bone growth, leading to characteristic short stature with disproportionately short arms...

Achromatopsia (ACHM) is a rare inherited retinal disorder that affects the eye’s cone cells. This condition leads to significant color blindness, mean...