| Disease Term | Human Homologs | Mouse Homologs | Mouse Models | Homology Source | |||
  | acheiropody | LMBR1* | Lmbr1* | 1 model | Alliance of Genome Resources | ||
| achondrogenesis type IA | TRIP11* | Trip11* | 3 models | Alliance of Genome Resources | |||
| achondrogenesis type II | COL2A1* | Col2a1* | 1 model | Alliance of Genome Resources | |||
| achondroplasia | FGFR3* | Fgfr3* | 9 models | Alliance of Genome Resources | |||
| acrocephalosyndactylia | FGFR2* | Fgfr2* | 8 models | Alliance of Genome Resources | |||
| acrodysostosis | PRKAR1A* | Prkar1a* | 1 model | Alliance of Genome Resources | |||
| acromesomelic dysplasia, Grebe type | GDF5* | Gdf5* | 2 models | Alliance of Genome Resources | |||
| acromesomelic dysplasia, Hunter-Thompson type | GDF5* | Gdf5* | 1 model | Alliance of Genome Resources | |||
| acromesomelic dysplasia, Maroteaux type | NPR2* | Npr2* | 2 models | Alliance of Genome Resources | |||
| asphyxiating thoracic dystrophy 2 | IFT80* | Ift80* | 1 model | Alliance of Genome Resources | |||
| asphyxiating thoracic dystrophy 3 | DYNC2H1* | Dync2h1* | 1 model | Alliance of Genome Resources | |||
| brachydactyly type A1 | IHH* | Ihh* | 1 model | Alliance of Genome Resources | |||
| brachydactyly type A1C | GDF5* | Gdf5* | 1 model | Alliance of Genome Resources | |||
| brachydactyly type A2 | GDF5* | Gdf5* | 1 model | Alliance of Genome Resources | |||
| brachydactyly type C | GDF5* | Gdf5* | 1 model | Alliance of Genome Resources | |||
| campomelic dysplasia | SOX9* | Sox9* | 9 models | Alliance of Genome Resources | |||
| Carpenter syndrome 1 | RAB23* | Rab23* | 2 models | Alliance of Genome Resources | |||
| chondrodysplasia with joint dislocations gPAPP type | BPNT2* | Bpnt2* | 1 model | Alliance of Genome Resources | |||
| cleidocranial dysplasia | RUNX2* | Runx2* | 4 models | Alliance of Genome Resources | |||
| clubfoot | PITX1* | Pitx1* | 1 model | Alliance of Genome Resources | |||
| craniosynostosis | MSX2* | Msx2* | 3 models | Alliance of Genome Resources | |||
| Crouzon syndrome | FGFR2* | Fgfr2* | 4 models | Alliance of Genome Resources | |||
| Desbuquois dysplasia | CANT1* | Cant1* | 2 models | Alliance of Genome Resources | |||
| diastrophic dysplasia | SLC26A2* | Slc26a2* | 1 model | Alliance of Genome Resources | |||
| fibular hypoplasia and complex brachydactyly | GDF5* | Gdf5* | 1 model | Alliance of Genome Resources | |||
| Fuhrmann syndrome | WNT7A* | Wnt7a* | 2 models | Alliance of Genome Resources | |||
| geleophysic dysplasia 1 | ADAMTSL2* | Adamtsl2* | 5 models | Alliance of Genome Resources | |||
| gnathodiaphyseal dysplasia | ANO5* | Ano5* | 2 models | Alliance of Genome Resources | |||
| Greig cephalopolysyndactyly syndrome | GLI3* | Gli3* | 1 model | Alliance of Genome Resources | |||
| hypertrichotic osteochondrodysplasia Cantu type | ABCC9* | Abcc9* | 4 models | Alliance of Genome Resources | |||
| hypochondroplasia | FGFR3* | Fgfr3* | 1 model | Alliance of Genome Resources | |||
| microcephalic osteodysplastic primordial dwarfism type II | PCNT* | Pcnt* | 1 model | Alliance of Genome Resources | |||
| Muenke Syndrome | FGFR3* | Fgfr3* | 6 models | Alliance of Genome Resources | |||
| multiple epiphyseal dysplasia 5 | MATN3* | Matn3* | 1 model | Alliance of Genome Resources | |||
| osteogenesis imperfecta | COL1A1* | Col1a1* | 1 model | Alliance of Genome Resources | |||
| osteogenesis imperfecta | COL1A2* | Col1a2* | 5 models | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 1 | COL1A1* | Col1a1* | 2 models | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 10 | SERPINH1* | Serpinh1* | 1 model | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 2 | COL1A1* | Col1a1* | 2 models | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 3 | COL1A2* | Col1a2* | 2 models | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 3 | COL1A1* | Col1a1* | 1 model | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 4 | COL1A1* | Col1a1* | 3 models | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 5 | IFITM5* | Ifitm5* | 1 model | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 6 | SERPINF1* | Serpinf1* | 1 model | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 7 | CRTAP* | Crtap* | 1 model | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 8 | P3H1* | P3h1* | 1 model | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 9 | PPIB* | Ppib* | 2 models | Alliance of Genome Resources | |||
| otospondylomegaepiphyseal dysplasia, autosomal recessive | COL11A2* | Col11a2* | 1 model | Alliance of Genome Resources | |||
| Pfeiffer syndrome | FGFR1* | Fgfr1* | 2 models | Alliance of Genome Resources | |||
| Pfeiffer syndrome | FGFR2* | Fgfr2* | 1 model | Alliance of Genome Resources | |||
| progressive pseudorheumatoid arthropathy of childhood | CCN6* | Ccn6* | 3 models | Alliance of Genome Resources | |||
| pseudoachondroplasia | COMP* | Comp* | 2 models | Alliance of Genome Resources | |||
| Saethre-Chotzen syndrome | TWIST1* | Twist1* | 8 models | Alliance of Genome Resources | |||
| Schimke immuno-osseous dysplasia | SMARCAL1* | Smarcal1* | 1 model | Alliance of Genome Resources | |||
| Schmid metaphyseal chondrodysplasia | COL10A1* | Col10a1* | 3 models | Alliance of Genome Resources | |||
| schneckenbecken dysplasia | SLC35D1* | Slc35d1* | 1 model | Alliance of Genome Resources | |||
| short-rib thoracic dysplasia 7 with or without polydactyly | WDR35* | Wdr35* | 1 model | Alliance of Genome Resources | |||
| short-rib thoracic dysplasia 9 with or without polydactyly | IFT140* | Ift140* | 1 model | Alliance of Genome Resources | |||
| Silverman-Handmaker type dyssegmental dysplasia | HSPG2* | Hspg2* | 2 models | Alliance of Genome Resources | |||
| Smith-McCort dysplasia 2 | RAB33B* | Rab33b* | 2 models | Alliance of Genome Resources | |||
| split hand-foot malformation 1 | DLX5* | Dlx5* | 2 models | Alliance of Genome Resources | |||
| spondylocarpotarsal synostosis syndrome | FLNB* | Flnb* | 2 models | Alliance of Genome Resources | |||
| spondyloepimetaphyseal dysplasia, Pakistani type | PAPSS2* | Papss2* | 1 model | Alliance of Genome Resources | |||
| spondyloepiphyseal dysplasia congenita | COL2A1* | Col2a1* | 7 models | Alliance of Genome Resources | |||
| thanatophoric dysplasia | FGFR3* | Fgfr3* | 4 models | Alliance of Genome Resources | |||
| | achondroplasia | NPPC | Nppc* | 2 models | Alliance of Genome Resources | ||
| achondroplasia | PTHLH | Pthlh* | 1 model | Alliance of Genome Resources | |||
| achondroplasia | NPR2 | Npr2* | 3 models | Alliance of Genome Resources | |||
| achondroplasia | ACAN | Acan* | 1 model | Alliance of Genome Resources | |||
| achondroplasia | SPRED2 | Spred2* | 1 model | Alliance of Genome Resources | |||
| asphyxiating thoracic dystrophy | srt* | 1 model | |||||
| asphyxiating thoracic dystrophy | SMARCAD1 | Smarcad1* | 1 model | Alliance of Genome Resources | |||
| asphyxiating thoracic dystrophy 1 | IFT140 | Ift140* | 1 model | Alliance of Genome Resources | |||
| asphyxiating thoracic dystrophy 3 | IFT80 | Ift80* | 1 model | Alliance of Genome Resources | |||
| bone development disease | NPR2 | Npr2* | 1 model | Alliance of Genome Resources | |||
| Carpenter syndrome | MEGF8 | Megf8* | 2 models | Alliance of Genome Resources | |||
| cleidocranial dysplasia | Ccd* | 2 models | |||||
| cleidocranial dysplasia | CBFB | Cbfb* | 1 model | Alliance of Genome Resources | |||
| clubfoot | TCIRG1 | Tcirg1* | 1 model | Alliance of Genome Resources | |||
| clubfoot | vsd* | 1 model | |||||
| clubfoot | skc3* | 1 model | |||||
| clubfoot | cl* | 1 model | |||||
| clubfoot | Dbf* | 1 model | |||||
| clubfoot | FKBP8 | Fkbp8* | 1 model | Alliance of Genome Resources | |||
| clubfoot | FRAS1 | Fras1* | 1 model | Alliance of Genome Resources | |||
| clubfoot | GRIP1 | Grip1* | 1 model | Alliance of Genome Resources | |||
| clubfoot | pma* | 1 model | |||||
| clubfoot | RET | Ret* | 1 model | Alliance of Genome Resources | |||
| craniosynostosis | AXIN2 | Axin2* | 1 model | Alliance of Genome Resources | |||
| Crouzon syndrome | Bey* | 1 model | |||||
| dysostosis | KIF3A | Kif3a* | 1 model | Alliance of Genome Resources | |||
| hypertrichotic osteochondrodysplasia Cantu type | KCNJ8 | Kcnj8* | 1 model | Alliance of Genome Resources | |||
| hypochondrogenesis | COL2A1 | Col2a1* | 1 model | Alliance of Genome Resources | |||
| Leri-Weill dyschondrosteosis | SHOX2 | Shox2* | 1 model | Alliance of Genome Resources | |||
| multiple epiphyseal dysplasia | COMP | Comp* | 1 model | Alliance of Genome Resources | |||
| multiple synostoses syndrome | GDF5 | Gdf5* | 1 model | Alliance of Genome Resources | |||
| multiple synostoses syndrome | FGF9 | Fgf9* | 2 models | Alliance of Genome Resources | |||
| osteochondrodysplasia | RNF146 | Rnf146* | 1 model | Alliance of Genome Resources | |||
| osteochondrodysplasia | NPPC | Nppc* | 1 model | Alliance of Genome Resources | |||
| osteochondrodysplasia | MIR140 | Mir140* | 2 models | Alliance of Genome Resources | |||
| osteochondrodysplasia | CEBPB | Cebpb* | 1 model | Alliance of Genome Resources | |||
| osteochondrodysplasia | ATF2 | Atf2* | 1 model | Alliance of Genome Resources | |||
| osteogenesis imperfecta | SMPD3 | Smpd3* | 1 model | Alliance of Genome Resources | |||
| osteogenesis imperfecta | SMAD4 | Smad4* | 1 model | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 2 | SMPD3 | Smpd3* | 1 model | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 3 | SMPD3 | Smpd3* | 1 model | Alliance of Genome Resources | |||
| osteogenesis imperfecta type 5 | SUCO | Suco* | 1 model | Alliance of Genome Resources | |||
| Smith-McCort dysplasia | DYM | Dym* | 1 model | Alliance of Genome Resources | |||
| split hand-foot malformation | MAP3K20 | Map3k20* | 1 model | Alliance of Genome Resources | |||
| split hand-foot malformation 1 | DLX6 | Dlx6* | 2 models | Alliance of Genome Resources | |||
| spondylocostal dysostosis | RIPPLY2 | Ripply2* | 1 model | Alliance of Genome Resources | |||
| spondylocostal dysostosis | DLL3 | Dll3* | 1 model | Alliance of Genome Resources | |||
| spondylocostal dysostosis | HES7 | Hes7* | 1 model | Alliance of Genome Resources | |||
| spondyloepimetaphyseal dysplasia | COL2A1 | Col2a1* | 2 models | Alliance of Genome Resources | |||
| spondyloepiphyseal dysplasia congenita | HAPLN1 | Hapln1* | 1 model | Alliance of Genome Resources | |||
| syndactyly | b2b1594Clo* | 1 model | |||||
| synpolydactyly | HOXD13 | Hoxd13* | 3 models | Alliance of Genome Resources | |||
| thanatophoric dysplasia | HSPG2 | Hspg2* | 1 model | Alliance of Genome Resources | |||
| Weissenbacher-Zweymuller syndrome | ACVR2A | Acvr2a* | 1 model | Alliance of Genome Resources | |||
| Weissenbacher-Zweymuller syndrome | SOX11 | Sox11* | 1 model | Alliance of Genome Resources | |||
| Weissenbacher-Zweymuller syndrome | MAPK1 | Mapk1* | 1 model | Alliance of Genome Resources | |||
| Weissenbacher-Zweymuller syndrome | hpmd* | 1 model | |||||
| Weissenbacher-Zweymuller syndrome | TFRC | Tfrc* | 1 model | Alliance of Genome Resources | |||
| | achondrogenesis type IB | SLC26A2* | Slc26a2 | Alliance of Genome Resources | |||
| acrocapitofemoral dysplasia | IHH* | Ihh | Alliance of Genome Resources | ||||
| acrocephalosyndactylia | FGFR1* | Fgfr1 | Alliance of Genome Resources | ||||
| acrocephalosyndactylia | TWIST1* | Twist1 | Alliance of Genome Resources | ||||
| acrodysostosis | PDE4D* | Pde4d | Alliance of Genome Resources | ||||
| acrofacial dysostosis Cincinnati type | POLR1A* | Polr1a | Alliance of Genome Resources | ||||
| acromelic frontonasal dysostosis | ZSWIM6* | Zswim6 | Alliance of Genome Resources | ||||
| acromesomelic dysplasia 3 | BMPR1B* | Bmpr1b | Alliance of Genome Resources | ||||
| acromesomelic dysplasia 4 | PRKG2* | Prkg2 | Alliance of Genome Resources | ||||
| acromicric dysplasia | FBN1* | Fbn1 | Alliance of Genome Resources | ||||
| anauxetic dysplasia 1 | RMRP* | Rmrp | Alliance of Genome Resources | ||||
| anauxetic dysplasia 2 | POP1* | Pop1 | Alliance of Genome Resources | ||||
| anauxetic dysplasia 3 | RMP64* | Nepro | Alliance of Genome Resources | ||||
| Antley-Bixler syndrome | FGFR2* | Fgfr2 | Alliance of Genome Resources | ||||
| Antley-Bixler syndrome with disordered steroidogenesis | POR* | Por | Alliance of Genome Resources | ||||
| Antley-Bixler syndrome without disordered steroidogenesis | FGFR2* | Fgfr2 | Alliance of Genome Resources | ||||
| asphyxiating thoracic dystrophy | NEK1* | Nek1 | Alliance of Genome Resources | ||||
| asphyxiating thoracic dystrophy | KIAA0753* | 4933427D14Rik | Alliance of Genome Resources | ||||
| asphyxiating thoracic dystrophy | DYNC2H1* | Dync2h1 | Alliance of Genome Resources | ||||
| asphyxiating thoracic dystrophy | DYNC2LI1* | Dync2li1 | Alliance of Genome Resources | ||||
| asphyxiating thoracic dystrophy | DYNLT2B* | Dynlt2b | Alliance of Genome Resources | ||||
| asphyxiating thoracic dystrophy | IFT52* | Ift52 | Alliance of Genome Resources | ||||
| asphyxiating thoracic dystrophy | INTU* | Intu | Alliance of Genome Resources | ||||
| asphyxiating thoracic dystrophy 4 | TTC21B* | Ttc21b | Alliance of Genome Resources | ||||
| asphyxiating thoracic dystrophy 5 | WDR19* | Wdr19 | Alliance of Genome Resources | ||||
| atelosteogenesis | FLNB* | Flnb | Alliance of Genome Resources | ||||
| atelosteogenesis | SLC26A2* | Slc26a2 | Alliance of Genome Resources | ||||
| axial spondylometaphyseal dysplasia | CFAP410* | Cfap410 | Alliance of Genome Resources | ||||
| Baller-Gerold syndrome | RECQL4* | Recql4 | Alliance of Genome Resources | ||||
| Beukes hip dysplasia | UFSP2* | Ufsp2 | Alliance of Genome Resources | ||||
| bone development disease | TNFRSF11A* | Tnfrsf11a | Alliance of Genome Resources | ||||
| bone development disease | FLNB* | Flnb | Alliance of Genome Resources | ||||
| Boomerang dysplasia | FLNB* | Flnb | Alliance of Genome Resources | ||||
| brachydactyly | HOXD13* | Hoxd13 | Alliance of Genome Resources | ||||
| brachydactyly | SLC26A2* | Slc26a2 | Alliance of Genome Resources | ||||
| brachydactyly type A1 | GDF5* | Gdf5 | Alliance of Genome Resources | ||||
| brachydactyly type A1D | BMPR1B* | Bmpr1b | Alliance of Genome Resources | ||||
| brachydactyly type A2 | BMP2* | Bmp2 | Alliance of Genome Resources | ||||
| brachydactyly type A2 | BMPR1B* | Bmpr1b | Alliance of Genome Resources | ||||
| brachydactyly type A4 | HOXD13* | Hoxd13 | Alliance of Genome Resources | ||||
| brachydactyly type B1 | ROR2* | Ror2 | 1 "NOT" model | Alliance of Genome Resources | |||
| brachydactyly type B2 | NOG* | Nog | Alliance of Genome Resources | ||||
| brachydactyly type D | HOXD13* | Hoxd13 | Alliance of Genome Resources | ||||
| brachydactyly type E1 | HOXD13* | Hoxd13 | Alliance of Genome Resources | ||||
| brachydactyly type E2 | PTHLH* | Pthlh | Alliance of Genome Resources | ||||
| calvarial doughnut lesions with bone fragility | SGMS2* | Sgms2 | Alliance of Genome Resources | ||||
| Carpenter syndrome 2 | MEGF8* | Megf8 | Alliance of Genome Resources | ||||
| Cenani-Lenz syndactyly syndrome | LRP4* | Lrp4 | Alliance of Genome Resources | ||||
| chondrodysplasia Blomstrand type | PTH1R* | Pth1r | Alliance of Genome Resources | ||||
| clubfoot | FLNB* | Flnb | Alliance of Genome Resources | ||||
| clubfoot | CYP1A1* | Cyp1a1 | Alliance of Genome Resources | ||||
| clubfoot | HOXD12* | Hoxd12 | Alliance of Genome Resources | ||||
| clubfoot | HOXD13* | Hoxd13 | Alliance of Genome Resources | ||||
| Cole-Carpenter syndrome | SEC24D* | Sec24d | Alliance of Genome Resources | ||||
| Cole-Carpenter syndrome | P4HB* | P4hb | Alliance of Genome Resources | ||||
| craniosynostosis | ALX4* | Alx4 | Alliance of Genome Resources | ||||
| craniosynostosis | BBS9* | Bbs9 | Alliance of Genome Resources | ||||
| craniosynostosis | FGFR2* | Fgfr2 | Alliance of Genome Resources | ||||
| craniosynostosis | FGFR3* | Fgfr3 | Alliance of Genome Resources | ||||
| craniosynostosis | FLNA* | Flna | Alliance of Genome Resources | ||||
| craniosynostosis | NOG* | Nog | Alliance of Genome Resources | ||||
| craniosynostosis 1 | TWIST1* | Twist1 | Alliance of Genome Resources | ||||
| craniosynostosis 2 | MSX2* | Msx2 | Alliance of Genome Resources | ||||
| craniosynostosis 3 | TCF12* | Tcf12 | Alliance of Genome Resources | ||||
| craniosynostosis 4 | ERF* | Erf | Alliance of Genome Resources | ||||
| craniosynostosis 6 | ZIC1* | Zic1 | Alliance of Genome Resources | ||||
| craniosynostosis 7 | SMAD6* | Smad6 | Alliance of Genome Resources | ||||
| Desbuquois dysplasia | XYLT1* | Xylt1 | Alliance of Genome Resources | ||||
| developmental dysplasia of the hip 1 | GDF5* | Gdf5 | Alliance of Genome Resources | ||||
| diaphyseal medullary stenosis with malignant fibrous histiocytoma | MTAP* | Mtap | Alliance of Genome Resources | ||||
| Dyggve-Melchior-Clausen disease | DYM* | Dym | Alliance of Genome Resources | ||||
| dysostosis | DLL3* | Dll3 | Alliance of Genome Resources | ||||
| dysostosis | EFNB1* | Efnb1 | Alliance of Genome Resources | ||||
| Eiken syndrome | PTH1R* | Pth1r | Alliance of Genome Resources | ||||
| fibrochondrogenesis 1 | COL11A1* | Col11a1 | Alliance of Genome Resources | ||||
| fibrochondrogenesis 2 | COL11A2* | Col11a2 | Alliance of Genome Resources | ||||
| Frank-Ter Haar syndrome | SH3PXD2B* | Sh3pxd2b | Alliance of Genome Resources | ||||
| frontometaphyseal dysplasia | MAP3K7* | Map3k7 | Alliance of Genome Resources | ||||
| frontometaphyseal dysplasia 1 | FLNA* | Flna | Alliance of Genome Resources | ||||
| frontometaphyseal dysplasia 2 | MAP3K7* | Map3k7 | Alliance of Genome Resources | ||||
| geleophysic dysplasia 2 | FBN1* | Fbn1 | Alliance of Genome Resources | ||||
| geleophysic dysplasia 3 | LTBP3* | Ltbp3 | Alliance of Genome Resources | ||||
| ischiocoxopodopatellar syndrome | TBX4* | Tbx4 | Alliance of Genome Resources | ||||
| Jansen's metaphyseal chondrodysplasia | PTH1R* | Pth1r | Alliance of Genome Resources | ||||
| Kenny-Caffey syndrome type 1 | TBCE* | Tbce | Alliance of Genome Resources | ||||
| Kenny-Caffey syndrome type 2 | FAM111A* | Fam111a | Alliance of Genome Resources | ||||
| Kniest dysplasia | COL2A1* | Col2a1 | Alliance of Genome Resources | ||||
| Laurin-Sandrow syndrome | LMBR1* | Lmbr1 | Alliance of Genome Resources | ||||
| Leri-Weill dyschondrosteosis | SHOX* | ||||||
| mandibuloacral dysplasia type A lipodystrophy | LMNA* | Lmna | Alliance of Genome Resources | ||||
| mandibuloacral dysplasia type B lipodystrophy | ZMPSTE24* | Zmpste24 | Alliance of Genome Resources | ||||
| Melnick-Needles syndrome | FLNA* | Flna | Alliance of Genome Resources | ||||
| metachondromatosis | PTPN11* | Ptpn11 | Alliance of Genome Resources | ||||
| metaphyseal dysplasia | SFRP4* | Sfrp4 | Alliance of Genome Resources | ||||
| metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome | RUNX2* | Runx2 | Alliance of Genome Resources | ||||
| metatropic dysplasia | TRPV4* | Trpv4 | Alliance of Genome Resources | ||||
| microcephalic osteodysplastic primordial dwarfism type I | RNU4ATAC* | ||||||
| microcephaly, short stature, and limb abnormalities | DONSON* | Donson | Alliance of Genome Resources | ||||
| Miura type epiphyseal chondrodysplasia | NPR2* | Npr2 | Alliance of Genome Resources | ||||
| multiple epiphyseal dysplasia 1 | COMP* | Comp | Alliance of Genome Resources | ||||
| multiple epiphyseal dysplasia 2 | COL9A2* | Col9a2 | Alliance of Genome Resources | ||||
| multiple epiphyseal dysplasia 3 | COL9A3* | Col9a3 | Alliance of Genome Resources | ||||
| multiple epiphyseal dysplasia 4 | SLC26A2* | Slc26a2 | Alliance of Genome Resources | ||||
| multiple epiphyseal dysplasia 6 | COL9A1* | Col9a1 | Alliance of Genome Resources | ||||
| multiple epiphyseal dysplasia 7 | CANT1* | Cant1 | Alliance of Genome Resources | ||||
| multiple synostoses syndrome 1 | GDF5* | Gdf5 | Alliance of Genome Resources | ||||
| multiple synostoses syndrome 1 | NOG* | Nog | Alliance of Genome Resources | ||||
| multiple synostoses syndrome 2 | GDF5* | Gdf5 | Alliance of Genome Resources | ||||
| multiple synostoses syndrome 3 | FGF9* | Fgf9 | Alliance of Genome Resources | ||||
| multiple synostoses syndrome 4 | GDF6* | Gdf6 | Alliance of Genome Resources | ||||
| Nager acrofacial dysostosis | SF3B4* | Sf3b4 | Alliance of Genome Resources | ||||
| omodysplasia 1 | GPC6* | Gpc6 | Alliance of Genome Resources | ||||
| omodysplasia 2 | FZD2* | Fzd2 | Alliance of Genome Resources | ||||
| osteochondrodysplasia | MATN3* | Matn3 | Alliance of Genome Resources | ||||
| osteochondrodysplasia | LIFR* | Lifr | Alliance of Genome Resources | ||||
| osteochondrodysplasia | COL11A2* | Col11a2 | Alliance of Genome Resources | ||||
| osteochondrodysplasia | COL10A1* | Col10a1 | Alliance of Genome Resources | ||||
| osteochondrodysplasia | COMP* | Comp | Alliance of Genome Resources | ||||
| osteochondrodysplasia | DYM* | Dym | Alliance of Genome Resources | ||||
| osteochondrodysplasia | FLNA* | Flna | Alliance of Genome Resources | ||||
| osteochondrodysplasia | FLNB* | Flnb | Alliance of Genome Resources | ||||
| osteochondrodysplasia | HSPG2* | Hspg2 | Alliance of Genome Resources | ||||
| osteochondrodysplasia | TRPS1* | Trps1 | Alliance of Genome Resources | ||||
| osteochondrodysplasia | TGFB1* | Tgfb1 | Alliance of Genome Resources | ||||
| osteochondrodysplasia | BMPR1B* | Bmpr1b | Alliance of Genome Resources | ||||
| osteochondrodysplasia | CHST3* | Chst3 | Alliance of Genome Resources | ||||
| osteochondrodysplasia | COL2A1* | Col2a1 | Alliance of Genome Resources | ||||
| osteochondrodysplasia | COL9A1* | Col9a1 | Alliance of Genome Resources | ||||
| osteochondrodysplasia | COL9A2* | Col9a2 | Alliance of Genome Resources | ||||
| osteochondrodysplasia | COL9A3* | Col9a3 | Alliance of Genome Resources | ||||
| osteochondrodysplasia | SLC26A2* | Slc26a2 | Alliance of Genome Resources | ||||
| osteochondrodysplasia | PTH1R* | Pth1r | Alliance of Genome Resources | ||||
| osteogenesis imperfecta | CCDC134* | Ccdc134 | Alliance of Genome Resources | ||||
| osteogenesis imperfecta | PHLDB1* | Phldb1 | Alliance of Genome Resources | ||||
| osteogenesis imperfecta type 11 | FKBP10* | Fkbp10 | Alliance of Genome Resources | ||||
| osteogenesis imperfecta type 12 | SP7* | Sp7 | Alliance of Genome Resources | ||||
| osteogenesis imperfecta type 13 | BMP1* | Bmp1 | Alliance of Genome Resources | ||||
| osteogenesis imperfecta type 14 | TMEM38B* | Tmem38b | Alliance of Genome Resources | ||||
| osteogenesis imperfecta type 15 | WNT1* | Wnt1 | Alliance of Genome Resources | ||||
| osteogenesis imperfecta type 16 | CREB3L1* | Creb3l1 | Alliance of Genome Resources | ||||
| osteogenesis imperfecta type 17 | SPARC* | Sparc | Alliance of Genome Resources | ||||
| osteogenesis imperfecta type 18 | TENT5A* | Tent5a | Alliance of Genome Resources | ||||
| osteogenesis imperfecta type 19 | MBTPS2* | Mbtps2 | Alliance of Genome Resources | ||||
| osteogenesis imperfecta type 2 | COL1A2* | Col1a2 | Alliance of Genome Resources | ||||
| osteogenesis imperfecta type 20 | MESD* | Mesd | Alliance of Genome Resources | ||||
| osteogenesis imperfecta type 21 | KDELR2* | Kdelr2 | Alliance of Genome Resources | ||||
| osteogenesis imperfecta type 4 | COL1A2* | Col1a2 | Alliance of Genome Resources | ||||
| osteoglophonic dysplasia | FGFR1* | Fgfr1 | Alliance of Genome Resources | ||||
| osteosclerotic metaphyseal dysplasia | LRRK1* | Lrrk1 | Alliance of Genome Resources | ||||
| otopalatodigital syndrome spectrum disorder | FLNA* | Flna | Alliance of Genome Resources | ||||
| otopalatodigital syndrome type 1 | FLNA* | Flna | Alliance of Genome Resources | ||||
| otopalatodigital syndrome type 2 | FLNA* | Flna | Alliance of Genome Resources | ||||
| otospondylomegaepiphyseal dysplasia, autosomal dominant | COL11A2* | Col11a2 | Alliance of Genome Resources | ||||
| parastremmatic dwarfism | TRPV4* | Trpv4 | Alliance of Genome Resources | ||||
| pycnodysostosis | CTSK* | Ctsk | Alliance of Genome Resources | ||||
| Saethre-Chotzen syndrome | FGFR2* | Fgfr2 | Alliance of Genome Resources | ||||
| Saul-Wilson syndrome | COG4* | Cog4 | Alliance of Genome Resources | ||||
| short-rib thoracic dysplasia 10 with or without polydactyly | IFT172* | Ift172 | Alliance of Genome Resources | ||||
| short-rib thoracic dysplasia 11 with or without polydactyly | DYNC2I2* | Dync2i2 | Alliance of Genome Resources | ||||
| short-rib thoracic dysplasia 13 with or without polydactyly | CEP120* | Cep120 | Alliance of Genome Resources | ||||
| short-rib thoracic dysplasia 14 with polydactyly | KIAA0586* | 2700049A03Rik | Alliance of Genome Resources | ||||
| short-rib thoracic dysplasia 18 with polydactyly | IFT43* | Ift43 | Alliance of Genome Resources | ||||
| short-rib thoracic dysplasia 19 with or without polydactyly | IFT81* | Ift81 | Alliance of Genome Resources | ||||
| short-rib thoracic dysplasia 6 with or without polydactyly | NEK1* | Nek1 | Alliance of Genome Resources | ||||
| short-rib thoracic dysplasia 8 with or without polydactyly | DYNC2I1* | Dync2i1 | Alliance of Genome Resources | ||||
| SHOX-related short stature | SHOX* | ||||||
| Smith-McCort dysplasia 1 | DYM* | Dym | Alliance of Genome Resources | ||||
| split hand-foot malformation 1 with sensorineural hearing loss | DLX5* | Dlx5 | Alliance of Genome Resources | ||||
| split hand-foot malformation 4 | TP63* | Trp63 | Alliance of Genome Resources | ||||
| split hand-foot malformation 6 | WNT10B* | Wnt10b | Alliance of Genome Resources | ||||
| spondylocostal dysostosis 1 | DLL3* | Dll3 | Alliance of Genome Resources | ||||
| spondylocostal dysostosis 2 | MESP2* | Mesp2 | Alliance of Genome Resources | ||||
| spondylocostal dysostosis 3 | LFNG* | Lfng | Alliance of Genome Resources | ||||
| spondylocostal dysostosis 4 | HES7* | Hes7 | Alliance of Genome Resources | ||||
| spondylocostal dysostosis 5 | TBX6* | Tbx6 | Alliance of Genome Resources | ||||
| spondylocostal dysostosis 6 | RIPPLY2* | Ripply2 | Alliance of Genome Resources | ||||
| spondyloepimetaphyseal dysplasia, Genevieve-type | NANS* | Nans | Alliance of Genome Resources | ||||
| spondyloepimetaphyseal dysplasia, Li-Shao-Li type | CCN2* | Ccn2 | Alliance of Genome Resources | ||||
| spondyloepimetaphyseal dysplasia, Missouri type | MMP13* | Mmp13 | Alliance of Genome Resources | ||||
| spondyloepimetaphyseal dysplasia, Sponastrime type | TONSL* | Tonsl | Alliance of Genome Resources | ||||
| spondyloepimetaphyseal dysplasia, Strudwick type | COL2A1* | Col2a1 | Alliance of Genome Resources | ||||
| spondyloepimetaphyseal dysplasia with joint laxity type 1 | B3GALT6* | B3galt6 | Alliance of Genome Resources | ||||
| spondyloepimetaphyseal dysplasia with joint laxity type 2 | KIF22* | Kif22 | Alliance of Genome Resources | ||||
| spondyloepimetaphyseal dysplasia with joint laxity type 3 | EXOC6B* | Exoc6b | Alliance of Genome Resources | ||||
| spondyloepiphyseal dysplasia Kimberley type | ACAN* | Acan | Alliance of Genome Resources | ||||
| spondyloepiphyseal dysplasia Kondo-Fu type | MBTPS1* | Mbtps1 | Alliance of Genome Resources | ||||
| spondyloepiphyseal dysplasia Maroteaux type | TRPV4* | Trpv4 | Alliance of Genome Resources | ||||
| spondyloepiphyseal dysplasia Nishimura type | MIR140* | Mir140 | Alliance of Genome Resources | ||||
| spondyloepiphyseal dysplasia Stanescu type | COL2A1* | Col2a1 | Alliance of Genome Resources | ||||
| spondyloepiphyseal dysplasia with congenital joint dislocations | CHST3* | Chst3 | Alliance of Genome Resources | ||||
| spondylometaepiphyseal dysplasia, short limb-hand type | DDR2* | Ddr2 | Alliance of Genome Resources | ||||
| spondylometaphyseal dysplasia | PRKG2* | Prkg2 | Alliance of Genome Resources | ||||
| spondylometaphyseal dysplasia | ACP5* | Acp5 | Alliance of Genome Resources | ||||
| spondylometaphyseal dysplasia Algerian type | COL2A1* | Col2a1 | Alliance of Genome Resources | ||||
| spondylometaphyseal dysplasia corner fracture type | FN1* | Fn1 | Alliance of Genome Resources | ||||
| spondylometaphyseal dysplasia Kozlowski type | TRPV4* | Trpv4 | Alliance of Genome Resources | ||||
| spondylometaphyseal dysplasia Megarbane-Dagher-Melike type | PAM16* | Pam16 | Alliance of Genome Resources | ||||
| spondylometaphyseal dysplasia Sedaghatian type | GPX4* | Gpx4 | Alliance of Genome Resources | ||||
| spondylometaphyseal dysplasia with cone-rod dystrophy | PCYT1A* | Pcyt1a | Alliance of Genome Resources | ||||
| spondylometaphyseal dysplasia with corneal dystrophy | PLCB3* | Plcb3 | Alliance of Genome Resources | ||||
| spondyloperipheral dysplasia | COL2A1* | Col2a1 | Alliance of Genome Resources | ||||
| syndactyly | GLI3* | Gli3 | Alliance of Genome Resources | ||||
| syndactyly | IRF6* | Irf6 | Alliance of Genome Resources | ||||
| syndactyly type 1 | IHH* | Ihh | Alliance of Genome Resources | ||||
| syndactyly type 3 | GJA1* | Gja1 | Alliance of Genome Resources | ||||
| syndactyly type 4 | SHH* | Shh | Alliance of Genome Resources | ||||
| syndactyly type 4 | LMBR1* | Lmbr1 | Alliance of Genome Resources | ||||
| syndactyly type 5 | HOXD13* | Hoxd13 | Alliance of Genome Resources | ||||
| syndactyly type 8 | FGF16* | Fgf16 | Alliance of Genome Resources | ||||
| tarsal-carpal coalition syndrome | NOG* | Nog | Alliance of Genome Resources | ||||
| Torrance type platyspondylic dysplasia | COL2A1* | Col2a1 | Alliance of Genome Resources | ||||
| vitamin D-dependent rickets type 1A | CYP27B1* | Cyp27b1 | Alliance of Genome Resources | ||||
| vitamin D-dependent rickets type 1B | CYP2R1* | Cyp2r1 | Alliance of Genome Resources | ||||
| vitamin D-dependent rickets type 2A | VDR* | Vdr | Alliance of Genome Resources | ||||
| Weyers acrofacial dysostosis | EVC* | Evc | Alliance of Genome Resources | ||||
| Weyers acrofacial dysostosis | EVC2* | Evc2 | Alliance of Genome Resources | ||||
| X-linked spondyloepimetaphyseal dysplasia | BGN* | Bgn | Alliance of Genome Resources | ||||
| X-linked spondyloepiphyseal dysplasia tarda | TRAPPC2* | Trappc2, Trappc2b | Alliance of Genome Resources | ||||
Excel File
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Transgenes and other genome features developed in mice to model this disease.
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| Disease Term | Transgenes and Other Genome Features | Mouse Models | |
| achondroplasia | Tg(Col2a1-Fgfr3/GH)BDor | 1 model | |
| achondroplasia | Tg(FGFR3-G380R)7Aya | 2 models | |
| bone development disease | Tg(Col11a2-Npr2*)28Keoz | 1 model | |
| craniosynostosis | Tg(Timp1-Msx2*P7H)1Rem | 1 model | |
| craniosynostosis | Tg(Nell1)1Ting | 1 model | |
| craniosynostosis | Tg(CMV-Msx2*P7H)1Rem | 1 model | |
| craniosynostosis | Tg(Msx2)1Rem | 1 model | |
| hypochondrogenesis | Tg(Col2a1*G574S)1Waho | 1 model | |
| osteogenesis imperfecta type 1 | Tg(COL1A1)73Prc | 1 model | |
| osteogenesis imperfecta type 5 | Tg(Col1a1-Ifitm5*)1Brle | 1 model | |
| pseudoachondroplasia | Tg(Col2a1-rtTA,tetO-COMP*)2Jath | 1 model | |
| split hand-foot malformation 1 | Del(6Dlx6-Dlx5)1Tlu | 1 model | |
| spondyloepiphyseal dysplasia congenita | Tg(Col2a1*R789C)#Waho | 1 model | |