Disease Index

monogenic disease characterized by glomerulonephritis, endstage kidney disease, and hearing loss

human disease

rare genetic disorder caused by mutations in the gene ALMS1

human disease

hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body

rare lung disease, present at birth and treatable by lung transplants

echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain

human disease

soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults

human disease

human disease

human disease

medical condition

human disease

birth defect in which an entire limb is missing

human disease

human disease

human disease

human disease

human disease

rare, cytologically malignant ameloblastoma that may metastasize

cell type benign neoplasm that has material basis in odontogenic epithelium

dental enamel hypoplasia characterized by abnormal enamel formation

amelogenesis imperfecta that has material basis in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24

human disease

amelogenesis imperfecta which can have material basis in mutation in the DLX3 gene

This syndrome associates gingival fibromatosis with dental abnormalities including generalized thin hypoplastic amelogenesis imperfecta, intrapulpal calcifications, and delay of tooth eruption

human disease

inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids