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Skeletal dysplasia v0.24 PTH1R Tiong Tan Added phenotypes Failure of tooth eruption, primary 125350; Eiken syndrome 600002; Metaphyseal chondrodysplasia, Murk Jansen type 156400; Chondrodysplasia, Blomstrand type 215045 for gene: PTH1R
Skeletal dysplasia v0.24 PTH1R Tiong Tan Added phenotypes Failure of tooth eruption, primary 125350; Eiken syndrome 600002; Metaphyseal chondrodysplasia, Murk Jansen type 156400; Chondrodysplasia, Blomstrand type 215045 for gene: PTH1R
Skeletal dysplasia v0.23 PTH1R Tiong Tan Source Victorian Clinical Genetics Services was added to PTH1R.
Added phenotypes Metaphyseal chondrodysplasia, Murk Jansen type 156400; Eiken syndrome 600002; Failure of tooth eruption, primary 125350; Chondrodysplasia, Blomstrand type 215045 for gene: PTH1R
Skeletal dysplasia v0.0 PTH1R Zornitza Stark gene: PTH1R was added
gene: PTH1R was added to Skeletal dysplasia. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PTH1R were set to Eiken syndrome 600002; Chondrodysplasia, Blomstrand type 215045; Failure of tooth eruption, primary 125350; Metaphyseal chondrodysplasia, Murk Jansen type 156400