| SKDT_001 | Abnormal mineralization disorders
(eg: Hypophosphatemic rickets, Familial isolated hyperparathyroidism, Vitamin D-dependent rickets) | 25 genes |
| SKDT_002 | Ciliopathies with major skeletal involvement (eg: Cranioectodermal dysplasia, Bardet-Biedl syndrome, Mainzer Saldino Syndrome) | 46 genes |
| SKDT_003 | Defects in joint formation & synostoses (eg: Arthrogryposis, Baller-Gerold syndrome, Bowen-Conradi syndrome,
Ehlers-Danlos syndrome, Lethal congenital contractural syndrome#, Multiple pterygium syndrome, Pfeiffer syndrome) | 57 genes |
| SKDT_004 | Dysostosis
(eg: Treacher Collins syndrome, Crouzon syndrome, Shprintzen-Goldberg syndrome, Rubinstein-Taybi syndrome) | 97 genes |
| SKDT_005 | Ectrodactyly with/without other manifestations
(eg: Hartsfield syndrome, Rapp-Hodgkin syndrome, Limb-mammary syndrome, Split hand/foot malformation) | 8 genes |
| SKDT_006 | Genetic inflammatory /rheumatoid-like osteoarthropathy
(eg: Nakajo-Nishimura syndrome, CINCA syndrome, Hypertrophic osteoarthropathy, Muckle-Wells syndrome) | 25 genes |
| SKDT_007 | Limb hypoplasia-reduction defects
(eg: ADULT syndrome, CHILD syndrome, Cornelia de Lange syndrome, Cousin syndrome, Holt-Oram syndrome, RAPADILINO syndrome, Rothmund-Thomson syndrome) | 60 genes |
| SKDT_008 | Osteogenesis imperfecta (OI) and decreased bone density
(eg: Bruck syndrome, Osteogenesis imperfecta, Osteoporosis-pseudoglioma syndrome, Osteoporosis, Dentinogenesis imperfecta) | 30 genes |
| SKDT_009 | Osteolysis related disorders
(eg: Haim-Munk syndrome, Singleton-Merten syndrome, Hajdu-Cheney syndrome, Winchester syndrome) | 20 genes |
| SKDT_010 | Osteopetrosis and related disorder | 15 genes |
| SKDT_011 | Overgrowth syndromes with skeletal involvement
(eg: Marfan syndrome, Weaver syndrome, Luscan-Lumish syndrome, MASS syndrome) | 19 genes |
| SKDT_012 | Polydactyly-syndactyly-triphalangism
(eg: Greig cephalopolysyndactyly syndrome, LADD syndrome, Laurin-Sandrow syndrome, Pallister-Hall syndrome) | 31 genes |
| SKDT_013 | Rasopathies
(eg: Noonan syndrome, Costello syndrome, LEOPARD syndrome) | 15 genes |
| SKDT_014 | Skeletal dysplasia
(eg: Bent bone dysplasia syndrome, Boomerang dysplasia, Kniest dysplasia, Melnick-Needles syndrome, Desbuquois dysplasia, Chondrodysplasia punctata, Dyssegmental dysplasia, KBG syndrome, Epiphyseal dysplasia) | 159 genes |
