Disease Index

human disease

retinal cell cancer

disease of the eye affecting prematurely born babies generally having received intensive neonatal care, in which oxygen therapy is used on them due to the premature development of their lungs

human disease

progressive condition characterized by deposition of fibrous tissue in the retroperitoneal space

genetic brain disorder

rare disease

syndrome

dyskeratosis congenita that has material basis in an X-linked recessive mutation of TINF2 on chromosome 14q12

syndrome characterized by acute brain damage and liver function problems

Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc) (see these terms)

Human disease

childhood kidney neoplasm that is located in the in the kidney as well as other locations outside the kidneys such as the liver, muscle, heart, lung, soft tissues, skin, the central nervous system

skeletal muscle cancer that arise from skeletal muscle progenitors

rare malignant neoplasm with skeletal muscle differentiation arising from the cervix

post-streptococcal inflammatory disease that can involve the heart, joints, skin, & brain

human disease

human disease

human disease

category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor

Human disease

rhizomelic chondrodysplasia punctata that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3

rhizomelic chondrodysplasia punctata that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2

rhizomelic chondrodysplasia punctata that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2

rhizomelic chondrodysplasia punctata that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31

human disease

Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterised by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres