Disease Index

Cyprus facial-neuromusculoskeletal syndrome is an exceedingly rare, genetic malformation syndrome characterized by a striking facial appearance, variable skeletal deformities, and neurological defects

amino acid metabolic disorder characterized by elevated plasma and urinary cystathionine levels that has material basis in homozygous or compound heterozygous mutation in the CTH gene on chromosome 1p31

Human disease

autosomal recessive disease characterized by the buildup of mucus

, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.

human disease

human disease

human disease

human disease

peritoneal mesothelioma affecting mainly young females

Human helminthiasis

lysosomal storage disease characterized by the abnormal accumulation of cystine in lysosomes

amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder

human disease

human disease

human disease

Human intestinal disease

human disease

Human disease

human disease

Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes

Human disease

human disease

genetic disease

human disease

human disease

Human disease