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Skeletal dysplasia v0.0 | IDH2 |
Zornitza Stark gene: IDH2 was added gene: IDH2 was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: IDH2 was set to Unknown Publications for gene: IDH2 were set to 22057234; 22057236; 24049096 Phenotypes for gene: IDH2 were set to D-2-hydroxyglutaric aciduria 2 613657; Ollier disease/ Dyschondroplasia 166000; Maffucci syndrome 614569; Enchondromatosis (Ollier) and Enchondromatosis with hermangiomata (Maffucci) 166000, metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (614875) |