Disease Index

Human disease

Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas

medical condition

human disease

central nervous system neoplasm mostly occurring in the fourth ventricle region. It is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. Cytologic atypia is minimal

medical condition

human disease

rare disease

human disease

rare disease

human disease

medical condition

medical condition

human disease

Saccharopinuria is a disorder of lysine metabolism associated with hyperlysinaemia and lysinuria

human disease

medical condition

autosomal dominant disease characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has material basis in heterozygous mutation in the FGFR3 gene on chromosome 4p16

acrocephalosyndactylia that has material basis in a genetic mutation in the TWIST1 gene which results in premature fusion located in skull

rare bone disease that arises due to secondary hyperparathyroidism in patients with chronic renal failure receiving dialysis characterized by 'uglifying' the appearance of the face

acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections

Human disease

human disease

autosomal recessive lysosomal storage disease

infection caused by Salmonella bacteria