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: Stickler syndroom type I (STL1)
OMIM aandoening ID: 108300
Overerving: AD
Aliases aandoening: STICKLER SYNDROME, TYPE I; STL1
STICKLER SYNDROME, VITREOUS TYPE 1
STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE
ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE; AOM

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