Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes HYPOPHOSPHATEMIC RICKETS, AR 241520 |
Green in Hypophosphataemia or ricketsR-numbers: R154 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hypophosphatemic rickets, AR (241520) |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple synostoses syndrome 2, 610017, Chondrodysplasia, Grebe type, 200700, Brachydactyly, type C, 113100, Hypophosphatemic rickets, AR, 241520, Brachydactyly, type A1, C, 615072, Brachydactyly, type A2, 112600, Acromesomelic dysplasia, Hunter-Thompson type, 201250, {Osteoarthritis-5}, 612400, Hypophosphatemic rickets,autosomal recessive,type 1 (ARHR1), skeletal dysplasias, Osteogenesis Imperfecta and Decreased Bone Density, Du Pan syndrome, 228900, Symphalangism, proximal, 1B, 615298, Hypophosphatemic rickets, AR, 241520 |