Disease Index

amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine

tyrosinemia that has material basis in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body

tyrosinemia that has material basis in deficiency of hepatic tyrosine aminotransferase located in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels

tyrosinemia that has material basis in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine

inflammatory bowel disease that causes ulcers in the colon

Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence

Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation

rare primary bone dysplasia

human disease

human disease

medical condition

skin condition characterized by underdevelopment of the apocrine and mammary glands which can cause various nipple, breast and genital abnormalities, and abnormal development of fingers and forearms

Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism

Umbilical cord ulceration-intestinal atresia syndrome is characterised by congenital intestinal atresia, umbilical cord ulceration and severe intrauterine haemorrhage

medical condition

human disease

human disease

human disease

human disease

human disease

Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS; see this term) with atypical features of uncertain clinical significance

human disease

human disease

human disease

rare scalp hair shaft dysplasia

Underterminate colitis designates a rare inflammatory bowel disease that clinically resembles CrohnBs disease and ulcerative colitis (see these terms) but that cannot be diagnosed as one of them after examination of an intestinal resection specimen

human disease

esophageal carcinoma characterized by the absence of microscopic features of squamous differentiation. However, there is immunohistochemical evidence of squamous differentiation

human disease