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Browse result for Brachydactyly

※ introduction

    Brachydactyly (Greek ¦Â¦Ñ¦Á¦Ö?? 'short' plus ¦Ä?¦Ê¦Ó¦Ô¦Ë¦Ï? 'finger') is a medical term which literally means 'short finger'. The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an inherited, dominant trait. It most often occurs as an isolated dysmelia, but can also occur with other anomalies as part of many congenital syndromes. Brachydactyly may also be a signal that one is at risk for congenital heart disease due to the association between congenital heart disease and Carpenter syndrome and the link between Carpenter syndrome and brachydactyly. Nomograms for normal values of finger length as a ratio to other body measurements have been published. In clinical genetics, the most commonly used index of digit length is the dimensionless ratio of the length of the third (middle) finger to the hand length. Both are expressed in the same units (centimeters, for example) and are measured in an open hand from the fingertip to the principal creases where the finger joins the palm and where the palm joins the wrist.

Reference
Wiki: Brachydactyly



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD04928P354533239
HOXD13
Homeobox protein Hox-D13
Homo sapiens
PTMD05117P430268200
GDF5
Growth/differentiation factor 5
Homo sapiens
PTMD06490Q132539241
NOG
Noggin
Homo sapiens