Disease Directory

Congenital absence of both lower leg and foot, bilateral is a structural limb malformation identified at birth that involves the absence of the lower...

Congenital absence of both lower leg and foot, unilateral is a condition evident at birth, characterized by the absence of the lower leg and foot on o...

Congenital absence of septum pellucidum is a rare brain condition characterized by the missing thin membrane that normally separates the lateral ventr...

Congenital absence of thigh and lower leg with foot present is a congenital limb malformation in which parts of the upper and lower leg are missing wh...

Congenital absence of thigh and lower leg with foot present, bilateral is a congenital musculoskeletal anomaly in which the thigh and lower leg segmen...

Congenital absence of the thigh and lower leg with the foot present, unilateral is a condition affecting limb development that is present from birth....

Congenital absence of upper arm and forearm with hand present is a congenital malformation characterized by the underdevelopment or absence of the upp...

Congenital acardia, also known as congenital absence of the heart, is a severe developmental anomaly in which a fetus develops without a recognizable...

Congenital accessory mitral valve tissue is a heart malformation present from birth that involves extra tissue around the mitral valve. This condition...

Congenital achiasma is a rare, non-syndromic malformation affecting the development of the optic chiasm, the part of the brain responsible for routing...

Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder primarily caused by deficiencies in steroidogenic enzymes, variants in genes s...

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is an inherited disorder of steroid hormone production that primarily affects the...

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare endocrine condition that affects adrenal steroid synthesis, leadi...

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is an inherited disorder of steroid hormone production that prima...

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a rare form of congenital adrenal hyperplasia (CAH). It is characte...

Congenital afibrinogenemia is a bleeding disorder that results from a complete absence of circulating fibrinogen, a critical blood clotting protein. T...

Congenital agammaglobulinemia is a condition present from birth that is characterized by a severe deficit in the production of immunoglobulins, leadin...

Congenital agenesis of the scrotum is a rare congenital condition in which the scrotum does not develop normally. This condition, which is identified...

Congenital alveolar dysplasia is a developmental condition of the lungs characterized by defective and hypoplastic formation of the pulmonary alveoli,...

Congenital alveolar dysplasia due to FGF10 is a developmental lung disorder that affects the formation of the alveoli, the tiny air sacs essential for...