Disease Directory

Cutis laxa, autosomal dominant 1 is a multisystem condition primarily characterized by loose, redundant skin and cardiovascular abnormalities. It is c...

Cutis laxa, autosomal dominant 2 is a connective tissue disorder primarily affecting the skin, where the skin may appear loose and inelastic. This con...

Cutis laxa, autosomal dominant 3 is a connective tissue disorder primarily affecting the skin and multiple organ systems. It is characterized by thin,...

Cutis laxa, autosomal recessive, type 1A is a connective tissue disorder characterized primarily by loose, redundant skin and abnormalities of elastic...

Cutis laxa, autosomal recessive, type 1B is a systemic connective tissue disorder characterized by abnormalities in skin elasticity and involvement of...

Cutis laxa, autosomal recessive, type 1d is a connective tissue disorder characterized by widespread abnormalities in skin elasticity and multiple str...

Cutis laxa, autosomal recessive, type 2E is a connective tissue disorder primarily affecting the skin and facial structure, with distinct craniofacial...

Cutis marmorata telangiectatica congenita is a congenital vascular anomaly that primarily affects the skin, producing a persistent marbled pattern wit...

Cutis verticis gyrata mental deficiency is a condition characterized by abnormal scalp folding in association with cognitive challenges. The available...

Cyanide poisoning occurs when cyanide enters the body, typically through inhalation, ingestion, or skin absorption. It is a life-threatening condition...

Cyanide-induced parkinsonism is a neurological syndrome that develops in individuals who have survived an acute cyanide poisoning episode or who have...

Cyclic hematopoiesis is an inherited blood disorder characterized by recurrent periods of low neutrophil counts, which increase the risk of infections...

Cyclosporiasis is a protozoan infection caused by Cyclospora cayetanensis that primarily affects the gastrointestinal system. It is most commonly acqu...

Cylindrical spirals myopathy is a rare congenital muscle disorder marked by generalized muscle weakness, low muscle tone (hypotonia), myotonia, and cr...

Cystathioninuria is a metabolic disorder caused by a deficiency of the enzyme cystathionine gamma-lyase, which is encoded by the CTH gene. It is gener...

Cystic echinococcosis is an infection caused by the larval stage of a tapeworm, and it most commonly affects the liver although other organs such as t...

Cystic fibrosis (CF) is a genetic disorder that primarily affects the lungs and digestive system, leading to thick, sticky mucus and high-salt sweat....

Cystic fibrosis-gastritis-megaloblastic anemia syndrome is a rare genetic condition characterized by cystic fibrosis, Helicobacter pylori-associated g...

Cystic hygroma is a benign lymphatic neoplasm that typically arises from the neck, characterized by the formation of fluid-filled cystic spaces due to...

Cystic leukoencephalopathy without megalencephaly is a neurodevelopmental condition marked by non-progressive abnormalities in the brain’s white matte...