Disease Directory

Congenital disorder of glycosylation, type Ibb, is a complex condition that falls within the broad category of disorders affecting the glycosylation p...

Congenital disorder of glycosylation, type Iw is a multisystem condition that affects both neurological and physical development. It is caused by alte...

Congenital disorder of glycosylation, type iit is a multisystem condition that primarily affects protein processing through abnormal glycosylation. Th...

Congenital dyserythropoietic anemia (CDA) is a heterogeneous group of blood disorders affecting red blood cell production that leads to anemia. The co...

Congenital dyserythropoietic anemia type 1 (CDA I) is a hematologic disorder primarily affecting the process of red blood cell formation. It is charac...

Congenital dyserythropoietic anemia type 2 (CDA II) is an inherited blood disorder that primarily affects the production and quality of red blood cell...

Congenital dyserythropoietic anemia type 3 (CDA III) is a rare blood disorder that affects red blood cell development, resulting in mild to moderate a...

Congenital dyserythropoietic anemia type 4 is a rare inherited blood disorder characterized by ineffective production of red blood cells and hemolysis...

Congenital dyserythropoietic anemia type type 1B is a condition affecting red blood cell production, leading to anemia and abnormal development of red...

Congenital ectropion is a condition evident at birth that is characterized by an outward turning of the eyelid. Because of this abnormal eyelid positi...

Congenital ectropion uveae is a rare developmental defect of the eye that affects the iris and anterior chamber structures. It is characterized by an...

Congenital elbow dislocation is a condition present at birth that affects the alignment of the elbow joint, potentially impacting joint function and m...

Congenital elbow dislocation, bilateral is a condition characterized by the displacement of the elbow joint present at birth. As a musculoskeletal ano...

Congenital elbow dislocation, unilateral is a condition affecting the structure of the elbow joint that is present at birth. It is characterized by th...

This condition is a form of childhood interstitial lung disease that results in abnormal airspace development and emphysematous changes. It is describ...

Congenital enterocyte heparan sulfate deficiency is a gastrointestinal condition that presents in newborns with massive protein loss from the intestin...

Congenital enteropathy due to enteropeptidase deficiency is a rare genetic disorder that primarily affects the digestive system. It is characterized b...

Congenital enterovirus infection is a condition that results from the transmission of enteroviruses, such as coxsackie and ECHO viruses, from mother t...

Congenital epulis is a benign tumor that arises on the alveolar ridge of the upper jaw, most often noted in female infants at birth. It is recognized...

Congenital erosive and vesicular dermatosis is a condition that affects the skin, with its onset present at birth. Although detailed descriptions of i...