Disease Index

human disease

marginal zone B-cell lymphocyte located in the spleen comprised of B-cells in place of white pulp

human disease

medical condition

human disease

human disease

human disease

deficiency or absence of one or more central digits of the hand

human disease

split-hand/foot malformation that has material basis in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region

split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has material basis in homozygous mutation in the DLX5 gene on chromosome 7q21

split-hand/foot malformation that has material basis in variation in the chromosome region Xq26

split-hand/foot malformation that has material basis in a contiguous gene duplication syndrome on chromosome 10q24

split-hand/foot malformation that has material basis in heterozygous mutation in the TP63 on chromosome 3q28

split-hand/foot malformation that has material basis in deletions in the chromosome region 2q31

human disease

gene (11q13.1), encoding kinesin light chain 2.

human disease

medical condition

human disease

Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis

human disease

dysostosis that results in abnormal development located in vertebrae or located in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together

human disease

human disease