List of articles in "Disease" category - Page 466

Aase syndrome or Aase–Smith syndrome is a rare inherited disorder characterized by anemia with some joint and skeletal deformities. Aase syndrome is thought to be an autosomal recessive inherited disorder. […]

Treacher Collins syndrome (TCS) also known as Treacher Collins–Franceschetti syndrome or mandibulofacial dysostosis is a rare autosomal dominant congenital disorder characterized by craniofacial deformities such as absent cheekbones. Treacher Collins […]

Polyarteritis nodosa also known as Panarteritis nodosa Periarteritis nodosa) Kussmaul disease or Kussmaul-Maier disease. is a vasculitis of medium and small-sized arteries which become swollen and damaged from attack by […]

Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate […]

Carcinoma in situ (CIS) is an early form of cancer that is defined by the absence of invasion of tumor cells into the surrounding tissue usually before penetration through the […]

Congenital insensitivity to pain with anhidrosis (CIPA) also called hereditary sensory and autonomic neuropathy type IV — is an extremely rare inherited disorder of the nervous system which prevents the […]

Urethral meatal stenosis or urethral stricture is a narrowing (stenosis) of the opening of the urethra at the external meatus /miːˈeɪtəs/ thus constricting the opening through which urine leaves the […]

Menkes disease (MNK) also called Menkes syndrome copper transport disease steely hair disease kinky hair disease or Menkes kinky hair syndrome is a disorder that affects copper levels in the […]

Gunther disease also known as congenital erythropoietic porphyria (CEP) uroporphyrinogen III synthase deficiency and UROS deficiency is a congenital form of erythropoietic porphyria. The word porphyria originated from the Greek […]

Hurler syndrome also known as mucopolysaccharidosis type I (MPS I) Hurler’s disease also gargoylism is a genetic disorder that results in the buildup of glycosaminoglycans (formerly known as mucopolysaccharides) due […]