COL2A1
Deellabo: | PGD DNA |
Gen (Gen Code): | COL2A1 |
Aliases Gen: | AOM; ANFH; SEDC; COL11A3; MGC131516; COL2A1 |
Gen ID (NCBI): | 1280 |
OMIM Gen ID: | 120140 |
Chromosomale locatie: | 12q13.11-q13.2 |
Genetische aandoening / Analyse: | Spondyloepifysaire dysplasie, congenitale (SEDC) |
OMIM aandoening ID: | 183900 |
Overerving: | AD |
Aliases aandoening: | SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC SED CONGENITA SPONDYLOEPIPHYSEAL DYSPLASIA, CONGENITAL TYPE |