EDM1

EDM1

Abbreviation for:
epiphyseal dysplasia, multiple 1
References in periodicals archive ?
Multiple epiphyseal dysplasia (MED; EDM1, OMIM 132400; EDM2, OMIM 600204; EDM3, OMIM 600969; EDM4, OMIM 226900; EDM5, OMIM 607078; EDM6, OMIM 614135) is an autosomal dominant inherited disease of the skeletal system, characterized by mild short stature and early-onset degenerative joint disease, caused by heterogeneous genotypes involving more than six genes ( COMP , COL9A1 , COL9A2 , COL9A3 , MATN3 , DTDST ).
The COMP associated with EDM1 is the most common form of MED, accounting for at least half of the cases.
This consensus region, called EDM1 (Environmental Induced Differential Methylation Consensus Sequence 1), has up to three potential CpG repeats, depending on the sequence.