Disease Directory

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form is a hormonal condition that affects adrenal steroid s...

Classic congenital lipoid adrenal hyperplasia due to STAR deficency is a condition that primarily affects adrenal function, resulting in impaired ster...

Classic congenital mesoblastic nephroma is a kidney tumor that is typically present at birth and is characterized by bundles of fibrous tissue with lo...

Classic dopamine transporter deficiency syndrome is an inherited neurological disorder that presents in early infancy. It is caused by pathogenic vari...

Classic eosinophilic pustular folliculitis is an inflammatory skin condition primarily affecting the hair follicles. While the precise cause is not ye...

Classic familial adenomatous polyposis (FAP) is a condition affecting the large intestine and is characterized by the development of hundreds to thous...

Classic galactosemia is a severe metabolic disorder that presents in the neonatal period and affects the body’s ability to properly process galactose....

Classic homocystinuria is a metabolic condition that affects multiple body systems, including the eyes, skeleton, nervous system, and blood vessels. I...

Classic lissencephaly is a congenital brain malformation characterized by an abnormally smooth cerebral surface due to disrupted neuronal migration. I...

Classic maple syrup urine disease (classic MSUD) is a metabolic disorder that impairs the breakdown of branched-chain amino acids, leading to the accu...

Classic medulloblastoma is a malignant embryonal tumor that arises in the midline region of the brain, most often affecting children. It is recognized...

Classic multiminicore myopathy is a congenital muscle disorder characterized by muscle weakness and reduced endurance. The condition primarily affects...

Classic neuroendocrine tumor of the appendix is a type of endocrine tumor affecting the appendix, most commonly discovered in individuals before the f...

Classic or attenuated familial adenomatous polyposis is an inherited condition characterized by the development of numerous adenomas in the colon and...

Classic organic aciduria is a metabolic condition that affects the normal processing of organic acids in the body. Although specific clinical features...

Classic pantothenate kinase-associated neurodegeneration is a neurological condition that is also known by names such as NBIA1 and PKAN. The underlyin...

Classic paraneoplastic limbic encephalitis is a rare neuroimmunological disorder that affects the brain’s limbic system and is typically associated wi...

Classic phenylketonuria (PKU) is a metabolic condition in which the body is unable to process the amino acid phenylalanine, leading to its accumulatio...

Classic pulmonary blastoma is a rare lung tumor that is characterized by a mixture of irregular tubular structures and mesenchymal elements. This tumo...

Classic pyoderma gangrenosum is a rare subtype of a skin disorder characterized by rapidly progressive and painful ulcers, most often affecting the le...