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...

Achilles bursitis is an inflammatory condition affecting the bursa adjacent to the calcaneal tendon, often resulting in heel pain and discomfort. This...

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 the most common form of chondrodysplasia, primarily affecting skeletal growth and resulting in disproportionate short stature and di...

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

Achromatopsia 2 is a condition that affects the ability to see colors. People with this condition usually have complete achromatopsia, meaning they se...

Achromatopsia 3 is a rare inherited condition defined by a mutation in the CNGB3 gene. This form of achromatopsia falls under a group of conditions th...

Achromatopsia 4 is a type of achromatopsia caused by a mutation in the GNAT2 gene. This condition is defined by the absence or impairment of color vis...

achromatopsia 5 is a rare disease. Detailed information about this condition is currently limited in medical literature.

achromatopsia 6 is a rare disease. Detailed information about this condition is currently limited in medical literature.

Achromatopsia 7 is a rare condition that affects the eyes, where the ability to see color is greatly reduced or absent. This condition is caused by a...

Acid sphingomyelinase deficiency is a rare lysosomal disorder that affects how the body processes fats. This condition occurs due to issues with an en...

Acinar dysplasia is a rare and lethal developmental lung malformation. It is characterized by an underdevelopment of the lungs, known as pulmonary hyp...