Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5 607078 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5 |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes MED, multiple epiphyseal dysplasia, Multiple Epiphyseal Dysplasia, Dominant, Disproportionate Short Stature, Epiphyseal dysplasia, multiple, 5, 607078, {Osteoarthritis susceptibility 2}, 140600, Spondyloepimetaphyseal dysplasia, 608728, Spondyloepimetaphyseal dysplasia, 608728 |