Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | ACAN CL E G H | 176 | 319 | OMIM:608361 | Spondyloepiphyseal dysplasia, Kimberley type | | | | 34 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | ACP5 CL E G H | 54 | 124 | ORPHA:1855 | Spondyloenchondrodysplasia | HP:0040283 - Occasional | | | 16 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | | | | 96 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | ALPL CL E G H | 249 | 438 | OMIM:241510 | Hypophosphatasia, childhood | . | | | 126 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | ALPL CL E G H | 249 | 438 | OMIM:241500 | Hypophosphatasia, infantile | . | | | 126 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | | | | 2 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | | | | 3 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | | | | 120 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | ARSK CL E G H | 153642 | 25239 | OMIM:619698 | MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10 | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | ATP7A CL E G H | 538 | 869 | OMIM:304150 | Occipital horn syndrome | | | | 192 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | | | | 192 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | | | | 169 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | | | | 38 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 5 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:2712 | Oculofaciocardiodental syndrome | | | | 101 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | BHLHA9 CL E G H | 727857 | 35126 | ORPHA:3329 | Tibial aplasia-ectrodactyly syndrome | | | | 4 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | BPNT2 CL E G H | 54928 | 26019 | OMIM:614078 | Chondrodysplasia with joint dislocations, Gpapp type | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 276 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | BRF1 CL E G H | 2972 | 11551 | OMIM:616202 | Cerebellofaciodental syndrome | | | | 7 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | C12ORF57 CL E G H | 113246 | 29521 | ORPHA:1777 | Temtamy syndrome | | | | 13 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CAMK2A CL E G H | 815 | 1460 | OMIM:617798 | Mental retardation, autosomal dominant 53 | | | | 1 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:617719 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7 | | | | 85 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CBS CL E G H | 875 | 1550 | ORPHA:394 | Classic homocystinuria | | | | 242 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CCN6 CL E G H | 8838 | 12771 | OMIM:208230 | Arthropathy, progressive pseudorheumatoid, of childhood | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CCN6 CL E G H | 8838 | 12771 | ORPHA:1159 | Progressive pseudorheumatoid arthropathy of childhood | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CDC45 CL E G H | 8318 | 1739 | OMIM:617063 | Meier-Gorlin syndrome 7 | . | | | 9 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CENPT CL E G H | 80152 | 25787 | OMIM:618702 | SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | | | | 35 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CHST3 CL E G H | 9469 | 1971 | ORPHA:263463 | CHST3-related skeletal dysplasia | | | | 165 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 165 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | | | | 165 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CLCN5 CL E G H | 1184 | 2023 | OMIM:300009 | Dent disease 1 | . | | | 112 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CLCN5 CL E G H | 1184 | 2023 | OMIM:300554 | Hypophosphatemic rickets, X-linked recessive | . | | | 112 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:53 | Albers-Schönberg osteopetrosis | | | | 102 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | | | | 6 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | | | | 79 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL10A1 CL E G H | 1300 | 2185 | ORPHA:174 | Metaphyseal chondrodysplasia, Schmid type | HP:0040283 - Occasional | | | 79 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL10A1 CL E G H | 1300 | 2185 | OMIM:156500 | Metaphyseal chondrodysplasia, Schmid type | | | | 79 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:440354 | Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome | | | | 215 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:250984 | Autosomal recessive Stickler syndrome | | | | 215 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:560 | Marshall syndrome | | | | 215 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:1427 | Otospondylomegaepiphyseal dysplasia | | | | 222 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:114000 | Caffey disease | . | HP:0003577 - Congenital onset | | 373 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:166200 | Osteogenesis imperfecta, type I | | | | 373 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:166210 | Osteogenesis imperfecta, type IIA | | | | 373 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:259420 | Osteogenesis imperfecta, type III | | | | 373 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:166220 | Osteogenesis imperfecta, type IV | | | | 373 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | | | | 243 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:166210 | Osteogenesis imperfecta, type IIA | | | | 243 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:259420 | Osteogenesis imperfecta, type III | | | | 243 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:166220 | Osteogenesis imperfecta, type IV | | | | 243 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85198 | Dysspondyloenchondromatosis | | | | 284 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:132450 | Epiphyseal dysplasia, multiple, with myopia and conductive deafness | | | | 284 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | | | | 284 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:166011 | Multiple epiphyseal dysplasia, Beighton type | | | | 284 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85166 | Platyspondylic dysplasia, Torrance type | | | | 284 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184250 | Spondyloepimetaphyseal dysplasia, Strudwick type | | | | 284 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:94068 | Spondyloepiphyseal dysplasia congenita | | | | 284 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | | | | 284 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184255 | Spondylometaphyseal dysplasia, corner Fracture type | | | | 284 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93316 | Spondylometaphyseal dysplasia, Schmidt type | | | | 284 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL9A1 CL E G H | 1297 | 2217 | ORPHA:250984 | Autosomal recessive Stickler syndrome | | | | 110 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL9A1 CL E G H | 1297 | 2217 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | | | | 110 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614134 | STICKLER SYNDROME, TYPE IV; STL4 | | | | 110 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL9A2 CL E G H | 1298 | 2218 | ORPHA:250984 | Autosomal recessive Stickler syndrome | | | | 110 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL9A2 CL E G H | 1298 | 2218 | OMIM:600204 | Epiphyseal dysplasia, multiple, 2 | | | | 110 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL9A2 CL E G H | 1298 | 2218 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | | | | 110 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL9A3 CL E G H | 1299 | 2219 | ORPHA:250984 | Autosomal recessive Stickler syndrome | | | | 137 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COL9A3 CL E G H | 1299 | 2219 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | | | | 137 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COMP CL E G H | 1311 | 2227 | OMIM:132400 | Epiphyseal dysplasia, multiple, 1 | | | | 89 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COMP CL E G H | 1311 | 2227 | ORPHA:93308 | Multiple epiphyseal dysplasia type 1 | | | | 89 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COMP CL E G H | 1311 | 2227 | ORPHA:750 | Pseudoachondroplasia | | | | 89 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | COMP CL E G H | 1311 | 2227 | OMIM:177170 | Pseudoachondroplasia | | | | 89 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CRTAP CL E G H | 10491 | 2379 | OMIM:610682 | Osteogenesis imperfecta, type VII | . | | | 124 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CSGALNACT1 CL E G H | 55790 | 24290 | OMIM:618870 | SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CTC1 CL E G H | 80169 | 26169 | OMIM:612199 | Cerebroretinal microangiopathy with calcifications and cysts | | | | 160 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CYP19A1 CL E G H | 1588 | 2594 | ORPHA:91 | Aromatase deficiency | | | | 60 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | | | | 41 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CYP27B1 CL E G H | 1594 | 2606 | OMIM:264700 | Vitamin D hydroxylation-deficient rickets, type 1A | . | | | 41 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | | | | 5 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CYP2R1 CL E G H | 120227 | 20580 | OMIM:600081 | Vitamin D hydroxylation-deficient rickets, type 1B | . | | | 5 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | CYP3A4 CL E G H | 1576 | 2637 | OMIM:619073 | VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3 | | | | 2 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | . | | | 45 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | DDRGK1 CL E G H | 65992 | 16110 | ORPHA:93352 | Spondyloepimetaphyseal dysplasia, Shohat type | HP:0040283 - Occasional | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | DDRGK1 CL E G H | 65992 | 16110 | OMIM:602557 | Spondyloepimetaphyseal dysplasia, Shohat type | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | DMP1 CL E G H | 1758 | 2932 | ORPHA:289176 | Autosomal recessive hypophosphatemic rickets | | | | 48 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | DYM CL E G H | 54808 | 21317 | OMIM:607326 | Smith-Mccort dysplasia 1 | | | | 65 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | DYNC2H1 CL E G H | 79659 | 2962 | OMIM:613091 | Asphyxiating thoracic dystrophy 3 | | | | 304 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | DYNC2I1 CL E G H | 55112 | 21862 | OMIM:615503 | Short rib-polydactyly syndrome, type VI | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 7 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | EFL1 CL E G H | 79631 | 25789 | OMIM:617941 | Shwachman-Diamond syndrome 2 | | | | 1 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | EHHADH CL E G H | 1962 | 3247 | OMIM:615605 | Fanconi renotubular syndrome 3 | . | | | 2 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | | | | 65 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:289176 | Autosomal recessive hypophosphatemic rickets | | | | 151 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | ENPP1 CL E G H | 5167 | 3356 | OMIM:613312 | Hypophosphatemic rickets, autosomal recessive, 2 | | | | 151 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | EVC CL E G H | 2121 | 3497 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 209 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | EVC CL E G H | 2121 | 3497 | OMIM:225500 | Ellis-Van creveld syndrome | | | | 209 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | EVC2 CL E G H | 132884 | 19747 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 137 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | EVC2 CL E G H | 132884 | 19747 | OMIM:225500 | Ellis-Van creveld syndrome | | | | 137 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | EXT1 CL E G H | 2131 | 3512 | OMIM:133700 | Exostoses, multiple, type I | | | | 96 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | EXT1 CL E G H | 2131 | 3512 | ORPHA:321 | Multiple osteochondromas | | | | 96 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | EXT1 CL E G H | 2131 | 3512 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | | | | 96 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | EXT2 CL E G H | 2132 | 3513 | OMIM:133701 | Exostoses, multiple, type II | | | | 102 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | EXT2 CL E G H | 2132 | 3513 | ORPHA:321 | Multiple osteochondromas | | | | 102 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2462 | Shprintzen-Goldberg syndrome | | | | 1361 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | FGF23 CL E G H | 8074 | 3680 | ORPHA:89937 | Autosomal dominant hypophosphatemic rickets | HP:0040282 - Frequent | | | 51 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | | | | 175 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:313855 | FGFR2-related bent bone dysplasia | HP:0040283 - Occasional | | | 175 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:15 | Achondroplasia | HP:0040281 - Very frequent | | | 145 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:100800 | ACHONDROPLASIA | . | | | 145 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:429 | Hypochondroplasia | | | | 145 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:146000 | HYPOCHONDROPLASIA | | | | 145 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:85165 | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | | | | 145 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:1860 | Thanatophoric dysplasia type 1 | | | | 145 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187600 | Thanatophoric dysplasia, type I | | | | 145 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | | | | 2 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | FIBP CL E G H | 9158 | 3705 | OMIM:617107 | Thauvin-Robinet-Faivre syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:305620 | Frontometaphyseal dysplasia | | | | 493 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:309350 | Melnick-Needles syndrome | | | | 493 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | | | | 493 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | | | | 493 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | | | | 233 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:108721 | Atelosteogenesis, type III | | | | 233 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | FN1 CL E G H | 2335 | 3778 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | | | | 9 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | FN1 CL E G H | 2335 | 3778 | OMIM:184255 | Spondylometaphyseal dysplasia, corner Fracture type | | | | 9 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | GALNS CL E G H | 2588 | 4122 | OMIM:253000 | Morquio syndrome A | | | | 123 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | GAN CL E G H | 8139 | 4137 | ORPHA:643 | Giant axonal neuropathy | | | | 121 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | GDF5 CL E G H | 8200 | 4220 | OMIM:201250 | Acromesomelic dysplasia, Hunter-Thompson type | | | | 52 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:253010 | Mucopolysaccharidosis type IVB (Morquio) | | | | 120 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | GLI1 CL E G H | 2735 | 4317 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 1 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | GLI1 CL E G H | 2735 | 4317 | OMIM:618123 | POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8 | | | | 1 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | GNPTG CL E G H | 84572 | 23026 | OMIM:252605 | Mucolipidosis III gamma | | | | 57 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | GORAB CL E G H | 92344 | 25676 | OMIM:231070 | Geroderma osteodysplasticum | | | | 52 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | | | | 54 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | H3-3B CL E G H | 3021 | 4765 | OMIM:619721 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2 | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | | | | 580 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | | | | 580 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | HEATR3 CL E G H | 55027 | 26087 | OMIM:620072 | | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | | | | 55 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | HS6ST1 CL E G H | 9394 | 5201 | OMIM:614880 | Hypogonadotropic hypogonadism 15 with or without anosmia | | | | 8 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1865 | Dyssegmental dysplasia, Silverman-Handmaker type | HP:0040282 - Frequent | | | 345 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | | | | 345 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | | | | 345 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | IARS2 CL E G H | 55699 | 29685 | ORPHA:436174 | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | | | | 25 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | | | | 25 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607016 | Scheie syndrome | | | | 115 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:182250 | Singleton-Merten syndrome 1 | | | | 28 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:615630 | Short-Rib thoracic dysplasia 10 with or without polydactyly | | | | 48 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | IFT57 CL E G H | 55081 | 17367 | OMIM:617927 | Orofaciodigital syndrome XVIII | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | IHH CL E G H | 3549 | 5956 | ORPHA:63446 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | KDELR2 CL E G H | 11014 | 6305 | OMIM:619131 | OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21 | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | KIF22 CL E G H | 3835 | 6391 | OMIM:603546 | Spondyloepimetaphyseal dysplasia with joint laxity, type 2 | | | | 14 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | KIF22 CL E G H | 3835 | 6391 | ORPHA:93360 | Spondyloepimetaphyseal dysplasia with multiple dislocations | | | | 14 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:607131 | Al-Gazali-Bakalinova syndrome | | | | 167 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:166024 | Multiple epiphyseal dysplasia, Al-Gazali type | | | | 167 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | | | | 13 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 196 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | LIFR CL E G H | 3977 | 6597 | ORPHA:3206 | Stüve-Wiedemann syndrome | | | | 144 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | | | | 144 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | | | | 11 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | LONP1 CL E G H | 9361 | 9479 | OMIM:600373 | CODAS syndrome | | | | 8 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | LOXL3 CL E G H | 84695 | 13869 | ORPHA:250984 | Autosomal recessive Stickler syndrome | | | | 4 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | LTBP1 CL E G H | 4052 | 6714 | OMIM:619451 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | | | | 136 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | | | | 136 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 134 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 178 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | MATN3 CL E G H | 4148 | 6909 | OMIM:607078 | Epiphyseal dysplasia, multiple, 5 | | | | 32 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | MATN3 CL E G H | 4148 | 6909 | ORPHA:93311 | Multiple epiphyseal dysplasia type 5 | | | | 32 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | MATN3 CL E G H | 4148 | 6909 | OMIM:608728 | Spondyloepimetaphyseal dysplasia, matrilin-3 related | . | | | 32 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | MATN3 CL E G H | 4148 | 6909 | ORPHA:156728 | Spondyloepimetaphyseal dysplasia, matrilin-3 type | HP:0040281 - Very frequent | | | 32 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | | | | 3 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | MEGF8 CL E G H | 1954 | 3233 | ORPHA:65759 | Carpenter syndrome | | | | 13 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | MMP13 CL E G H | 4322 | 7159 | OMIM:250400 | Metaphyseal chondrodysplasia, Spahr type | | | | 52 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | MMP13 CL E G H | 4322 | 7159 | ORPHA:2501 | Metaphyseal chondrodysplasia, Spahr type | | | | 52 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | MMP13 CL E G H | 4322 | 7159 | ORPHA:93356 | Spondyloepimetaphyseal dysplasia, Missouri type | | | | 52 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | MMP13 CL E G H | 4322 | 7159 | OMIM:602111 | Spondyloepimetaphyseal dysplasia, Missouri type | | | | 52 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | MMP9 CL E G H | 4318 | 7176 | OMIM:613073 | METAPHYSEAL ANADYSPLASIA 2; MANDP2 | | | | 31 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | MPZ CL E G H | 4359 | 7225 | ORPHA:3115 | Roussy-Lévy syndrome | | | | 134 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | MTAP CL E G H | 4507 | 7413 | OMIM:112250 | Diaphyseal medullary stenosis with malignant fibrous histiocytoma | . | | | 85 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | NDUFAF6 CL E G H | 137682 | 28625 | OMIM:618913 | FANCONI RENOTUBULAR SYNDROME 5; FRTS5 | | | | 39 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | | | | 745 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | NEK8 CL E G H | 284086 | 13387 | OMIM:615415 | Renal-Hepatic-Pancreatic dysplasia 2 | | | | 43 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | | | | 9 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | NEPRO CL E G H | 25871 | 24496 | OMIM:618853 | ANAUXETIC DYSPLASIA 3; ANXD3 | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040284 - Very rare | | | 1952 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | | | | 1952 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | | | | 1952 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | NKX3-2 CL E G H | 579 | 951 | OMIM:613330 | Spondylo-Megaepiphyseal-Metaphyseal dysplasia | | | | 10 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:102500 | Hajdu-Cheney syndrome | | | | 138 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | OCRL CL E G H | 4952 | 8108 | OMIM:309000 | Lowe syndrome | | | | 88 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | | | | 88 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | | | | 53 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | | | | 39 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | P3H1 CL E G H | 64175 | 19316 | OMIM:610915 | Osteogenesis imperfecta, type VIII | | | | 43 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | P4HTM CL E G H | 54681 | 28858 | OMIM:618493 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | PAPSS2 CL E G H | 9060 | 8604 | OMIM:612847 | Brachyolmia 4 with mild epiphyseal and metaphyseal changes | . | | | 20 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | | | | 531 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | PCYT1A CL E G H | 5130 | 8754 | OMIM:608940 | Spondylometaphyseal dysplasia with cone-rod dystrophy | | | | 11 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | PCYT1A CL E G H | 5130 | 8754 | ORPHA:85167 | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | PEPD CL E G H | 5184 | 8840 | ORPHA:742 | Prolidase deficiency | | | | 66 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | PHEX CL E G H | 5251 | 8918 | OMIM:307800 | Hypophosphatemic rickets, X-linked dominant | . | | | 217 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | PHEX CL E G H | 5251 | 8918 | ORPHA:89936 | X-linked hypophosphatemia | HP:0040282 - Frequent | | | 217 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | PLOD2 CL E G H | 5352 | 9082 | OMIM:609220 | Bruck syndrome 2 | | | | 45 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:3115 | Roussy-Lévy syndrome | | | | 79 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | POLR1A CL E G H | 25885 | 17264 | OMIM:616462 | Acrofacial dysostosis, Cincinnati type | | | | 8 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | POR CL E G H | 5447 | 9208 | OMIM:201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | | | | 76 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | POR CL E G H | 5447 | 9208 | OMIM:207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | | | | 76 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | | | | 76 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | PRKACA CL E G H | 5566 | 9380 | OMIM:619142 | CARDIOACROFACIAL DYSPLASIA 1; CAFD1 | | | | 2 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | PRKACA CL E G H | 5566 | 9380 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 2 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | PRKACB CL E G H | 5567 | 9381 | OMIM:619143 | CARDIOACROFACIAL DYSPLASIA 2; CAFD2 | | | | 2 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | PRKACB CL E G H | 5567 | 9381 | ORPHA:289 | Ellis Van Creveld syndrome | | | | 2 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619636 | ACROMESOMELIC DYSPLASIA 4; AMD4 | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619638 | SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | PUS3 CL E G H | 83480 | 25461 | ORPHA:488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | | | | 1 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | RAB23 CL E G H | 51715 | 14263 | ORPHA:65759 | Carpenter syndrome | | | | 31 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | RAB33B CL E G H | 83452 | 16075 | OMIM:615222 | Smith-Mccort dysplasia 2 | | | | 53 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | RBM8A CL E G H | 9939 | 9905 | ORPHA:3320 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | | | | 445 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | | | | 37 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | | | | 37 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:250460 | Metaphyseal dysplasia without hypotrichosis | | | | 37 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611560 | Joubert syndrome 7 | | | | 167 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | RPL13 CL E G H | 6137 | 10303 | OMIM:618728 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | | | | 2 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | RSPRY1 CL E G H | 89970 | 29420 | OMIM:616723 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | | | | 2 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | | | | 90 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SATB2 CL E G H | 23314 | 21637 | OMIM:612313 | Glass syndrome | | | | 34 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | | | | 34 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | | | | 11 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SERPINH1 CL E G H | 871 | 1546 | OMIM:613848 | Osteogenesis imperfecta, type X | | | | 52 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | | | | 143 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | | | | 2 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SFRP4 CL E G H | 6424 | 10778 | OMIM:265900 | Pyle disease | | | | 3 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SGMS2 CL E G H | 166929 | 28395 | OMIM:126550 | Calvarial doughnut lesions with bone fragility | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SHOX CL E G H | 6473 | 10853 | ORPHA:240 | Léri-Weill dyschondrosteosis | | | | 66 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SHOX CL E G H | 6473 | 10853 | OMIM:127300 | Leri-Weill dyschondrosteosis | | | | 66 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SHOX CL E G H | 6473 | 10853 | ORPHA:314795 | SHOX-related short stature | | | | 66 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | | | | 150 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:2462 | Shprintzen-Goldberg syndrome | | | | 150 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SLC10A7 CL E G H | 84068 | 23088 | OMIM:618363 | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | | | | 166 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:222600 | Diastrophic dysplasia | | | | 166 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | | | | 166 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SLC34A1 CL E G H | 6569 | 11019 | ORPHA:157215 | Hereditary hypophosphatemic rickets with hypercalciuria | HP:0040283 - Occasional | | | 47 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SLC34A3 CL E G H | 142680 | 20305 | ORPHA:157215 | Hereditary hypophosphatemic rickets with hypercalciuria | HP:0040283 - Occasional | | | 52 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SLC34A3 CL E G H | 142680 | 20305 | OMIM:241530 | Hypophosphatemic rickets with hypercalciuria, hereditary | . | | | 52 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SLCO2A1 CL E G H | 6578 | 10955 | ORPHA:2796 | Pachydermoperiostosis | | | | 13 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:140 | Campomelic dysplasia | | | | 109 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SP7 CL E G H | 121340 | 17321 | OMIM:613849 | Osteogenesis imperfecta, type XII | | | | 34 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SPART CL E G H | 23111 | 18514 | ORPHA:101000 | Autosomal recessive spastic paraplegia type 20 | | | | 66 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | | | | 31 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | TENT5A CL E G H | 55603 | 18345 | OMIM:617952 | Osteogenesis imperfecta, type XVIII | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:1328 | Camurati-Engelmann disease | | | | 13 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:131300 | Camurati-Engelmann disease | | | | 13 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | TMEM38B CL E G H | 55151 | 25535 | OMIM:615066 | OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14 | | | | 4 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:602080 | Paget disease of bone 2, early-onset | | | | 72 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | TNFRSF11B CL E G H | 4982 | 11909 | OMIM:239000 | Paget disease of bone 5, juvenile-onset | | | | 44 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | TNFSF11 CL E G H | 8600 | 11926 | OMIM:259710 | Osteopetrosis, autosomal recessive 2 | | | | 44 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | | | | 54 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:200600 | Achondrogenesis, type IA | | | | 133 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:184260 | Osteochondrodysplasia | | | | 133 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | | | | 171 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | | | | 214 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:168400 | Parastremmatic dwarfism | | | | 214 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:184095 | Spondyloepiphyseal dysplasia, Maroteaux type | | | | 214 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:93314 | Spondylometaphyseal dysplasia, Kozlowski type | | | | 214 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | TRPV6 CL E G H | 55503 | 14006 | OMIM:618188 | Hyperparathyroidism, transient neonatal | | | | 4 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | | | | 64 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | UFSP2 CL E G H | 55325 | 25640 | OMIM:617974 | Spondyloepimetaphyseal dysplasia, DI Rocco type | | | | 2 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | UGP2 CL E G H | 7360 | 12527 | OMIM:618744 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83 | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | VDR CL E G H | 7421 | 12679 | ORPHA:93160 | Hypocalcemic vitamin D-resistant rickets | | | | 104 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | . | | | 104 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | | | | 546 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | | | | 546 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | | | | 224 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | WNT7A CL E G H | 7476 | 12786 | OMIM:228930 | Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly | | | | 13 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | | | | 13 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:615777 | Desbuquois dysplasia 2 | | | | 14 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | | | | 362 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | | | | 362 | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0002979 | HP:0002979 | Bowing of the legs | 0 | ZPR1 CL E G H | 8882 | 13051 | OMIM:619321 | GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF | | | | | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | ACAN CL E G H | 176 | 319 | OMIM:608361 | Spondyloepiphyseal dysplasia, Kimberley type | . | | | 34 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | ACAN CL E G H | 176 | 319 | OMIM:608361 | Spondyloepiphyseal dysplasia, Kimberley type | . | | | 34 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | HP:0040284 - Very rare | | | 2 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | . | | | 120 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | ARSK CL E G H | 153642 | 25239 | OMIM:619698 | MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10 | | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | ATP7A CL E G H | 538 | 869 | OMIM:304150 | Occipital horn syndrome | . | | | 192 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | HP:0040283 - Occasional | | | 192 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | . | | | 169 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | | | | 38 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | HP:0040283 - Occasional | | | 5 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | BCOR CL E G H | 54880 | 20893 | ORPHA:2712 | Oculofaciocardiodental syndrome | HP:0040283 - Occasional | | | 101 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | BHLHA9 CL E G H | 727857 | 35126 | ORPHA:3329 | Tibial aplasia-ectrodactyly syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | BPNT2 CL E G H | 54928 | 26019 | OMIM:614078 | Chondrodysplasia with joint dislocations, Gpapp type | . | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040283 - Occasional | | | 276 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | BRF1 CL E G H | 2972 | 11551 | OMIM:616202 | Cerebellofaciodental syndrome | | | | 7 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | C12ORF57 CL E G H | 113246 | 29521 | ORPHA:1777 | Temtamy syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | CAMK2A CL E G H | 815 | 1460 | OMIM:617798 | Mental retardation, autosomal dominant 53 | | | | 1 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | . | | | 85 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | CANT1 CL E G H | 124583 | 19721 | OMIM:617719 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7 | | | | 85 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | CBS CL E G H | 875 | 1550 | ORPHA:394 | Classic homocystinuria | HP:0040282 - Frequent | | | 242 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | CCN6 CL E G H | 8838 | 12771 | OMIM:208230 | Arthropathy, progressive pseudorheumatoid, of childhood | . | | | | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | CCN6 CL E G H | 8838 | 12771 | ORPHA:1159 | Progressive pseudorheumatoid arthropathy of childhood | HP:0040283 - Occasional | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | CCN6 CL E G H | 8838 | 12771 | ORPHA:1159 | Progressive pseudorheumatoid arthropathy of childhood | HP:0040283 - Occasional | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | CENPT CL E G H | 80152 | 25787 | OMIM:618702 | SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA | | | | | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 35 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 35 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | CHST3 CL E G H | 9469 | 1971 | ORPHA:263463 | CHST3-related skeletal dysplasia | HP:0040281 - Very frequent | | | 165 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | HP:0040283 - Occasional | | | 165 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | . | | | 165 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | . | | | 165 | | |
HP:0002979 | HP:0010502 | Fibular bowing | 1 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | | | | | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | | | | | | |
HP:0002979 | HP:0010502 | Fibular bowing | 1 | CLCN5 CL E G H | 1184 | 2023 | OMIM:300009 | Dent disease 1 | . | | | 112 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | CLCN5 CL E G H | 1184 | 2023 | OMIM:300009 | Dent disease 1 | . | | | 112 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | CLCN5 CL E G H | 1184 | 2023 | OMIM:300009 | Dent disease 1 | . | | | 112 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | CLCN5 CL E G H | 1184 | 2023 | OMIM:300554 | Hypophosphatemic rickets, X-linked recessive | . | | | 112 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | CLCN5 CL E G H | 1184 | 2023 | OMIM:300554 | Hypophosphatemic rickets, X-linked recessive | . | | | 112 | | |
HP:0002979 | HP:0010502 | Fibular bowing | 1 | CLCN5 CL E G H | 1184 | 2023 | OMIM:300554 | Hypophosphatemic rickets, X-linked recessive | . | | | 112 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:53 | Albers-Schönberg osteopetrosis | HP:0040282 - Frequent | | | 102 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | HP:0040283 - Occasional | | | 6 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | HP:0040283 - Occasional | | | 79 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | COL10A1 CL E G H | 1300 | 2185 | ORPHA:174 | Metaphyseal chondrodysplasia, Schmid type | HP:0040282 - Frequent | | | 79 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | COL10A1 CL E G H | 1300 | 2185 | ORPHA:174 | Metaphyseal chondrodysplasia, Schmid type | HP:0040282 - Frequent | | | 79 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | COL10A1 CL E G H | 1300 | 2185 | OMIM:156500 | Metaphyseal chondrodysplasia, Schmid type | | | | 79 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | COL10A1 CL E G H | 1300 | 2185 | OMIM:156500 | Metaphyseal chondrodysplasia, Schmid type | | | | 79 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | COL10A1 CL E G H | 1300 | 2185 | OMIM:156500 | Metaphyseal chondrodysplasia, Schmid type | . | | | 79 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | COL10A1 CL E G H | 1300 | 2185 | OMIM:156500 | Metaphyseal chondrodysplasia, Schmid type | . | | | 79 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:440354 | Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome | HP:0040282 - Frequent | | | 215 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040281 - Very frequent | | | 215 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:560 | Marshall syndrome | HP:0040282 - Frequent | | | 215 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:1427 | Otospondylomegaepiphyseal dysplasia | HP:0040283 - Occasional | | | 222 | | |
HP:0002979 | HP:0010502 | Fibular bowing | 1 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:1427 | Otospondylomegaepiphyseal dysplasia | HP:0040283 - Occasional | | | 222 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | COL1A1 CL E G H | 1277 | 2197 | OMIM:114000 | Caffey disease | . | | | 373 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | COL1A1 CL E G H | 1277 | 2197 | OMIM:166200 | Osteogenesis imperfecta, type I | . | | | 373 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | COL1A1 CL E G H | 1277 | 2197 | OMIM:166210 | Osteogenesis imperfecta, type IIA | . | | | 373 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | COL1A1 CL E G H | 1277 | 2197 | OMIM:259420 | Osteogenesis imperfecta, type III | . | | | 373 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | COL1A1 CL E G H | 1277 | 2197 | OMIM:166220 | Osteogenesis imperfecta, type IV | | | | 373 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 243 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | COL1A2 CL E G H | 1278 | 2198 | OMIM:166210 | Osteogenesis imperfecta, type IIA | . | | | 243 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | COL1A2 CL E G H | 1278 | 2198 | OMIM:259420 | Osteogenesis imperfecta, type III | . | | | 243 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | COL1A2 CL E G H | 1278 | 2198 | OMIM:166220 | Osteogenesis imperfecta, type IV | | | | 243 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85198 | Dysspondyloenchondromatosis | HP:0040282 - Frequent | | | 284 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:132450 | Epiphyseal dysplasia, multiple, with myopia and conductive deafness | . | | | 284 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | | | | 284 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | | | | 284 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:166011 | Multiple epiphyseal dysplasia, Beighton type | HP:0040282 - Frequent | | | 284 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85166 | Platyspondylic dysplasia, Torrance type | HP:0040282 - Frequent | | | 284 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184250 | Spondyloepimetaphyseal dysplasia, Strudwick type | . | | | 284 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:94068 | Spondyloepiphyseal dysplasia congenita | HP:0040282 - Frequent | | | 284 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040282 - Frequent | | | 284 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040283 - Occasional | | | 284 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040282 - Frequent | | | 284 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184255 | Spondylometaphyseal dysplasia, corner Fracture type | HP:0040284 - Very rare | | | 284 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93316 | Spondylometaphyseal dysplasia, Schmidt type | HP:0040282 - Frequent | | | 284 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | COL9A1 CL E G H | 1297 | 2217 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040281 - Very frequent | | | 110 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | COL9A1 CL E G H | 1297 | 2217 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | HP:0040283 - Occasional | | | 110 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | COL9A1 CL E G H | 1297 | 2217 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | HP:0040283 - Occasional | | | 110 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614134 | STICKLER SYNDROME, TYPE IV; STL4 | | | | 110 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | COL9A2 CL E G H | 1298 | 2218 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040281 - Very frequent | | | 110 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | COL9A2 CL E G H | 1298 | 2218 | OMIM:600204 | Epiphyseal dysplasia, multiple, 2 | . | | | 110 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | COL9A2 CL E G H | 1298 | 2218 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | HP:0040283 - Occasional | | | 110 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | COL9A2 CL E G H | 1298 | 2218 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | HP:0040283 - Occasional | | | 110 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | COL9A3 CL E G H | 1299 | 2219 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040281 - Very frequent | | | 137 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | COL9A3 CL E G H | 1299 | 2219 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | HP:0040283 - Occasional | | | 137 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | COL9A3 CL E G H | 1299 | 2219 | ORPHA:166002 | Multiple epiphyseal dysplasia due to collagen 9 anomaly | HP:0040283 - Occasional | | | 137 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | COMP CL E G H | 1311 | 2227 | OMIM:132400 | Epiphyseal dysplasia, multiple, 1 | . | | | 89 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | COMP CL E G H | 1311 | 2227 | ORPHA:93308 | Multiple epiphyseal dysplasia type 1 | HP:0040284 - Very rare | | | 89 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | COMP CL E G H | 1311 | 2227 | ORPHA:93308 | Multiple epiphyseal dysplasia type 1 | HP:0040284 - Very rare | | | 89 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | COMP CL E G H | 1311 | 2227 | OMIM:177170 | Pseudoachondroplasia | | | | 89 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | COMP CL E G H | 1311 | 2227 | ORPHA:750 | Pseudoachondroplasia | HP:0040283 - Occasional | | | 89 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | COMP CL E G H | 1311 | 2227 | ORPHA:750 | Pseudoachondroplasia | HP:0040283 - Occasional | | | 89 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | COMP CL E G H | 1311 | 2227 | OMIM:177170 | Pseudoachondroplasia | | | | 89 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | CSGALNACT1 CL E G H | 55790 | 24290 | OMIM:618870 | SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA | | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | CTC1 CL E G H | 80169 | 26169 | OMIM:612199 | Cerebroretinal microangiopathy with calcifications and cysts | . | | | 160 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | . | | | 178 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | CYP19A1 CL E G H | 1588 | 2594 | ORPHA:91 | Aromatase deficiency | HP:0040281 - Very frequent | | | 60 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040281 - Very frequent | | | 41 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040281 - Very frequent | | | 41 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040281 - Very frequent | | | 41 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | CYP27B1 CL E G H | 1594 | 2606 | OMIM:264700 | Vitamin D hydroxylation-deficient rickets, type 1A | . | | | 41 | | |
HP:0002979 | HP:0010502 | Fibular bowing | 1 | CYP27B1 CL E G H | 1594 | 2606 | OMIM:264700 | Vitamin D hydroxylation-deficient rickets, type 1A | . | | | 41 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | CYP27B1 CL E G H | 1594 | 2606 | OMIM:264700 | Vitamin D hydroxylation-deficient rickets, type 1A | . | | | 41 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040281 - Very frequent | | | 5 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040281 - Very frequent | | | 5 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040281 - Very frequent | | | 5 | | |
HP:0002979 | HP:0010502 | Fibular bowing | 1 | CYP2R1 CL E G H | 120227 | 20580 | OMIM:600081 | Vitamin D hydroxylation-deficient rickets, type 1B | . | | | 5 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | CYP2R1 CL E G H | 120227 | 20580 | OMIM:600081 | Vitamin D hydroxylation-deficient rickets, type 1B | . | | | 5 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | CYP2R1 CL E G H | 120227 | 20580 | OMIM:600081 | Vitamin D hydroxylation-deficient rickets, type 1B | . | | | 5 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | CYP3A4 CL E G H | 1576 | 2637 | OMIM:619073 | VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3 | | | | 2 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | DDRGK1 CL E G H | 65992 | 16110 | OMIM:602557 | Spondyloepimetaphyseal dysplasia, Shohat type | . | | | | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | DDRGK1 CL E G H | 65992 | 16110 | ORPHA:93352 | Spondyloepimetaphyseal dysplasia, Shohat type | HP:0040283 - Occasional | | | | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | DMP1 CL E G H | 1758 | 2932 | ORPHA:289176 | Autosomal recessive hypophosphatemic rickets | HP:0040281 - Very frequent | | | 48 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | DMP1 CL E G H | 1758 | 2932 | ORPHA:289176 | Autosomal recessive hypophosphatemic rickets | | | | 48 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | DMP1 CL E G H | 1758 | 2932 | ORPHA:289176 | Autosomal recessive hypophosphatemic rickets | HP:0040282 - Frequent | | | 48 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | HP:0040283 - Occasional | | | 65 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | DYM CL E G H | 54808 | 21317 | OMIM:607326 | Smith-Mccort dysplasia 1 | . | | | 65 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | DYM CL E G H | 54808 | 21317 | OMIM:607326 | Smith-Mccort dysplasia 1 | . | | | 65 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | DYNC2H1 CL E G H | 79659 | 2962 | OMIM:613091 | Asphyxiating thoracic dystrophy 3 | . | | | 304 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | DYNC2I1 CL E G H | 55112 | 21862 | OMIM:615503 | Short rib-polydactyly syndrome, type VI | . | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | EFL1 CL E G H | 79631 | 25789 | OMIM:617941 | Shwachman-Diamond syndrome 2 | . | | | 1 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | EIF2AK3 CL E G H | 9451 | 3255 | OMIM:226980 | Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus | . | | | 65 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:289176 | Autosomal recessive hypophosphatemic rickets | | | | 151 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:289176 | Autosomal recessive hypophosphatemic rickets | HP:0040282 - Frequent | | | 151 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:289176 | Autosomal recessive hypophosphatemic rickets | HP:0040281 - Very frequent | | | 151 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | ENPP1 CL E G H | 5167 | 3356 | OMIM:613312 | Hypophosphatemic rickets, autosomal recessive, 2 | . | | | 151 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | ENPP1 CL E G H | 5167 | 3356 | OMIM:613312 | Hypophosphatemic rickets, autosomal recessive, 2 | . | | | 151 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | EVC CL E G H | 2121 | 3497 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 209 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | EVC CL E G H | 2121 | 3497 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 209 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | EVC2 CL E G H | 132884 | 19747 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 137 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | EVC2 CL E G H | 132884 | 19747 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 137 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | EXT1 CL E G H | 2131 | 3512 | OMIM:133700 | Exostoses, multiple, type I | . | | | 96 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | EXT1 CL E G H | 2131 | 3512 | ORPHA:321 | Multiple osteochondromas | HP:0040283 - Occasional | | | 96 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | EXT1 CL E G H | 2131 | 3512 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | HP:0040283 - Occasional | | | 96 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | EXT2 CL E G H | 2132 | 3513 | OMIM:133701 | Exostoses, multiple, type II | . | | | 102 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | EXT2 CL E G H | 2132 | 3513 | ORPHA:321 | Multiple osteochondromas | HP:0040283 - Occasional | | | 102 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040283 - Occasional | | | 1361 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | . | | | 175 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:100800 | ACHONDROPLASIA | | | | 145 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:100800 | ACHONDROPLASIA | . | | | 145 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:429 | Hypochondroplasia | HP:0040282 - Frequent | | | 145 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:146000 | HYPOCHONDROPLASIA | . | | | 145 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:85165 | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:85165 | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0002979 | HP:0010502 | Fibular bowing | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:85165 | Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | HP:0040282 - Frequent | | | 145 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:1860 | Thanatophoric dysplasia type 1 | HP:0040281 - Very frequent | | | 145 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187600 | Thanatophoric dysplasia, type I | | | | 145 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | FIBP CL E G H | 9158 | 3705 | ORPHA:500095 | Tall stature-intellectual disability-renal anomalies syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:305620 | Frontometaphyseal dysplasia | . | | | 493 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:309350 | Melnick-Needles syndrome | . | | | 493 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:309350 | Melnick-Needles syndrome | . | | | 493 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | | | | 493 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | . | | | 493 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | . | | | 493 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | . | | | 233 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:108721 | Atelosteogenesis, type III | . | | | 233 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | FN1 CL E G H | 2335 | 3778 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040282 - Frequent | | | 9 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | FN1 CL E G H | 2335 | 3778 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040282 - Frequent | | | 9 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | FN1 CL E G H | 2335 | 3778 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040283 - Occasional | | | 9 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | FN1 CL E G H | 2335 | 3778 | OMIM:184255 | Spondylometaphyseal dysplasia, corner Fracture type | HP:0040284 - Very rare | | | 9 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | GALNS CL E G H | 2588 | 4122 | OMIM:253000 | Morquio syndrome A | . | | | 123 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | GAN CL E G H | 8139 | 4137 | ORPHA:643 | Giant axonal neuropathy | HP:0040283 - Occasional | | | 121 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | GDF5 CL E G H | 8200 | 4220 | OMIM:201250 | Acromesomelic dysplasia, Hunter-Thompson type | | | | 52 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | GLB1 CL E G H | 2720 | 4298 | OMIM:253010 | Mucopolysaccharidosis type IVB (Morquio) | . | | | 120 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | GLI1 CL E G H | 2735 | 4317 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | GLI1 CL E G H | 2735 | 4317 | OMIM:618123 | POLYDACTYLY, POSTAXIAL, TYPE A8; PAPA8 | | | | 1 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | GNPTG CL E G H | 84572 | 23026 | OMIM:252605 | Mucolipidosis III gamma | . | | | 57 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | GORAB CL E G H | 92344 | 25676 | OMIM:231070 | Geroderma osteodysplasticum | . | | | 52 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | GORAB CL E G H | 92344 | 25676 | OMIM:231070 | Geroderma osteodysplasticum | . | | | 52 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | . | | | 54 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | H3-3B CL E G H | 3021 | 4765 | OMIM:619721 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2 | | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | HP:0040282 - Frequent | | | 580 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | HP:0040283 - Occasional | | | 580 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | HEATR3 CL E G H | 55027 | 26087 | OMIM:620072 | | | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | HPGD CL E G H | 3248 | 5154 | ORPHA:2796 | Pachydermoperiostosis | HP:0040283 - Occasional | | | 55 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | HS6ST1 CL E G H | 9394 | 5201 | OMIM:614880 | Hypogonadotropic hypogonadism 15 with or without anosmia | HP:0040283 - Occasional | | | 8 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040281 - Very frequent | | | 345 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | IARS2 CL E G H | 55699 | 29685 | ORPHA:436174 | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | . | | | 25 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | IDUA CL E G H | 3425 | 5391 | OMIM:607016 | Scheie syndrome | . | | | 115 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | IFIH1 CL E G H | 64135 | 18873 | OMIM:182250 | Singleton-Merten syndrome 1 | . | | | 28 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | IFT172 CL E G H | 26160 | 30391 | OMIM:615630 | Short-Rib thoracic dysplasia 10 with or without polydactyly | HP:0040283 - Occasional | | | 48 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | IFT57 CL E G H | 55081 | 17367 | OMIM:617927 | Orofaciodigital syndrome XVIII | . | | | | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | IHH CL E G H | 3549 | 5956 | ORPHA:63446 | Acrocapitofemoral dysplasia | HP:0040282 - Frequent | | | 44 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | IHH CL E G H | 3549 | 5956 | OMIM:607778 | Acrocapitofemoral dysplasia | | | | 44 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | KIF22 CL E G H | 3835 | 6391 | OMIM:603546 | Spondyloepimetaphyseal dysplasia with joint laxity, type 2 | . | | | 14 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | KIF22 CL E G H | 3835 | 6391 | ORPHA:93360 | Spondyloepimetaphyseal dysplasia with multiple dislocations | HP:0040282 - Frequent | | | 14 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | KIF22 CL E G H | 3835 | 6391 | ORPHA:93360 | Spondyloepimetaphyseal dysplasia with multiple dislocations | HP:0040282 - Frequent | | | 14 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:607131 | Al-Gazali-Bakalinova syndrome | . | | | 167 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | KIF7 CL E G H | 374654 | 30497 | ORPHA:166024 | Multiple epiphyseal dysplasia, Al-Gazali type | HP:0040281 - Very frequent | | | 167 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | LIFR CL E G H | 3977 | 6597 | ORPHA:3206 | Stüve-Wiedemann syndrome | HP:0040282 - Frequent | | | 144 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | . | | | 144 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | . | | | 144 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | LONP1 CL E G H | 9361 | 9479 | OMIM:600373 | CODAS syndrome | | | | 8 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | LOXL3 CL E G H | 84695 | 13869 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | LTBP1 CL E G H | 4052 | 6714 | OMIM:619451 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIE; ARCL2E | | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | . | | | 136 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040283 - Occasional | | | 136 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040283 - Occasional | | | 134 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040283 - Occasional | | | 178 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | MATN3 CL E G H | 4148 | 6909 | OMIM:607078 | Epiphyseal dysplasia, multiple, 5 | | | | 32 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | MATN3 CL E G H | 4148 | 6909 | ORPHA:93311 | Multiple epiphyseal dysplasia type 5 | HP:0040282 - Frequent | | | 32 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | MATN3 CL E G H | 4148 | 6909 | ORPHA:93311 | Multiple epiphyseal dysplasia type 5 | HP:0040282 - Frequent | | | 32 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | MATN3 CL E G H | 4148 | 6909 | OMIM:608728 | Spondyloepimetaphyseal dysplasia, matrilin-3 related | | | | 32 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | MCTP2 CL E G H | 55784 | 25636 | ORPHA:1596 | Distal monosomy 15q | HP:0040282 - Frequent | | | 3 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | MEGF8 CL E G H | 1954 | 3233 | ORPHA:65759 | Carpenter syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | MMP13 CL E G H | 4322 | 7159 | ORPHA:2501 | Metaphyseal chondrodysplasia, Spahr type | HP:0040281 - Very frequent | | | 52 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | MMP13 CL E G H | 4322 | 7159 | OMIM:250400 | Metaphyseal chondrodysplasia, Spahr type | . | | | 52 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | MMP13 CL E G H | 4322 | 7159 | ORPHA:93356 | Spondyloepimetaphyseal dysplasia, Missouri type | HP:0040282 - Frequent | | | 52 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | MMP13 CL E G H | 4322 | 7159 | ORPHA:93356 | Spondyloepimetaphyseal dysplasia, Missouri type | HP:0040282 - Frequent | | | 52 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | MMP13 CL E G H | 4322 | 7159 | OMIM:602111 | Spondyloepimetaphyseal dysplasia, Missouri type | . | | | 52 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | MMP13 CL E G H | 4322 | 7159 | ORPHA:93356 | Spondyloepimetaphyseal dysplasia, Missouri type | HP:0040282 - Frequent | | | 52 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | MMP13 CL E G H | 4322 | 7159 | OMIM:602111 | Spondyloepimetaphyseal dysplasia, Missouri type | . | | | 52 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | MMP13 CL E G H | 4322 | 7159 | OMIM:602111 | Spondyloepimetaphyseal dysplasia, Missouri type | . | | | 52 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | MMP9 CL E G H | 4318 | 7176 | OMIM:613073 | METAPHYSEAL ANADYSPLASIA 2; MANDP2 | | | | 31 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | MPZ CL E G H | 4359 | 7225 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040283 - Occasional | | | 134 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | NDUFAF6 CL E G H | 137682 | 28625 | OMIM:618913 | FANCONI RENOTUBULAR SYNDROME 5; FRTS5 | | | | 39 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | NEK8 CL E G H | 284086 | 13387 | OMIM:615415 | Renal-Hepatic-Pancreatic dysplasia 2 | . | | | 43 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | | | | 9 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | NEPRO CL E G H | 25871 | 24496 | OMIM:618853 | ANAUXETIC DYSPLASIA 3; ANXD3 | | | | | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | NEPRO CL E G H | 25871 | 24496 | OMIM:618853 | ANAUXETIC DYSPLASIA 3; ANXD3 | | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | HP:0040283 - Occasional | | | 1952 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:162200 | Neurofibromatosis, type I | . | | | 1952 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | NKX3-2 CL E G H | 579 | 951 | OMIM:613330 | Spondylo-Megaepiphyseal-Metaphyseal dysplasia | . | | | 10 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | NKX3-2 CL E G H | 579 | 951 | OMIM:613330 | Spondylo-Megaepiphyseal-Metaphyseal dysplasia | . | | | 10 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:102500 | Hajdu-Cheney syndrome | . | | | 138 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | . | | | 544 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | OCRL CL E G H | 4952 | 8108 | OMIM:309000 | Lowe syndrome | . | | | 88 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040283 - Occasional | | | 88 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | . | | | 53 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | . | | | 53 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | . | | | 39 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | P3H1 CL E G H | 64175 | 19316 | OMIM:610915 | Osteogenesis imperfecta, type VIII | . | | | 43 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | P3H1 CL E G H | 64175 | 19316 | OMIM:610915 | Osteogenesis imperfecta, type VIII | . | | | 43 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | P4HTM CL E G H | 54681 | 28858 | OMIM:618493 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | | | | | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | . | | | 531 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | PCYT1A CL E G H | 5130 | 8754 | OMIM:608940 | Spondylometaphyseal dysplasia with cone-rod dystrophy | . | | | 11 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | PCYT1A CL E G H | 5130 | 8754 | OMIM:608940 | Spondylometaphyseal dysplasia with cone-rod dystrophy | . | | | 11 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | PEPD CL E G H | 5184 | 8840 | ORPHA:742 | Prolidase deficiency | HP:0040282 - Frequent | | | 66 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | PHEX CL E G H | 5251 | 8918 | OMIM:307800 | Hypophosphatemic rickets, X-linked dominant | . | | | 217 | | |
HP:0002979 | HP:0010502 | Fibular bowing | 1 | PHEX CL E G H | 5251 | 8918 | OMIM:307800 | Hypophosphatemic rickets, X-linked dominant | . | | | 217 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | PHEX CL E G H | 5251 | 8918 | OMIM:307800 | Hypophosphatemic rickets, X-linked dominant | | | | 217 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | PHEX CL E G H | 5251 | 8918 | OMIM:307800 | Hypophosphatemic rickets, X-linked dominant | . | | | 217 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | PHEX CL E G H | 5251 | 8918 | ORPHA:89936 | X-linked hypophosphatemia | HP:0040282 - Frequent | | | 217 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | PHEX CL E G H | 5251 | 8918 | ORPHA:89936 | X-linked hypophosphatemia | HP:0040282 - Frequent | | | 217 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | PLOD2 CL E G H | 5352 | 9082 | OMIM:609220 | Bruck syndrome 2 | . | | | 45 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040283 - Occasional | | | 79 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | POLR1A CL E G H | 25885 | 17264 | OMIM:616462 | Acrofacial dysostosis, Cincinnati type | . | | | 8 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | POLRMT CL E G H | 5442 | 9200 | OMIM:619743 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55 | | | | 1 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | POR CL E G H | 5447 | 9208 | OMIM:201750 | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | . | | | 76 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | POR CL E G H | 5447 | 9208 | OMIM:207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | . | | | 76 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040283 - Occasional | | | 76 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | PRKACA CL E G H | 5566 | 9380 | OMIM:619142 | CARDIOACROFACIAL DYSPLASIA 1; CAFD1 | | | | 2 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | PRKACA CL E G H | 5566 | 9380 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | PRKACB CL E G H | 5567 | 9381 | OMIM:619143 | CARDIOACROFACIAL DYSPLASIA 2; CAFD2 | | | | 2 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | PRKACB CL E G H | 5567 | 9381 | ORPHA:289 | Ellis Van Creveld syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619636 | ACROMESOMELIC DYSPLASIA 4; AMD4 | | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619636 | ACROMESOMELIC DYSPLASIA 4; AMD4 | | | | | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | PRKG2 CL E G H | 5593 | 9416 | OMIM:619638 | SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP | | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | PUS3 CL E G H | 83480 | 25461 | ORPHA:488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | RAB23 CL E G H | 51715 | 14263 | ORPHA:65759 | Carpenter syndrome | HP:0040282 - Frequent | | | 31 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | RAB33B CL E G H | 83452 | 16075 | OMIM:615222 | Smith-Mccort dysplasia 2 | . | | | 53 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | RBM8A CL E G H | 9939 | 9905 | ORPHA:3320 | Thrombocytopenia-absent radius syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | HP:0040283 - Occasional | | | 445 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | . | | | 37 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040281 - Very frequent | | | 37 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | RMRP CL E G H | 6023 | 10031 | OMIM:250460 | Metaphyseal dysplasia without hypotrichosis | . | | | 37 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | . | | | 15 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611560 | Joubert syndrome 7 | | | | 167 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | RPL13 CL E G H | 6137 | 10303 | OMIM:618728 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST | | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | | | | 2 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | RSPRY1 CL E G H | 89970 | 29420 | OMIM:616723 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | . | | | 2 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040283 - Occasional | | | 90 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | SATB2 CL E G H | 23314 | 21637 | OMIM:612313 | Glass syndrome | | | | 34 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040283 - Occasional | | | 34 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | . | | | 11 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | SERPINH1 CL E G H | 871 | 1546 | OMIM:613848 | Osteogenesis imperfecta, type X | . | | | 52 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040283 - Occasional | | | 143 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | | | | 2 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | SFRP4 CL E G H | 6424 | 10778 | OMIM:265900 | Pyle disease | . | | | 3 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | SGMS2 CL E G H | 166929 | 28395 | OMIM:126550 | Calvarial doughnut lesions with bone fragility | HP:0040284 - Very rare | | | | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | SHOX CL E G H | 6473 | 10853 | ORPHA:240 | Léri-Weill dyschondrosteosis | HP:0040281 - Very frequent | | | 66 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | SHOX CL E G H | 6473 | 10853 | ORPHA:240 | Léri-Weill dyschondrosteosis | HP:0040282 - Frequent | | | 66 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | SHOX CL E G H | 6473 | 10853 | ORPHA:240 | Léri-Weill dyschondrosteosis | HP:0040281 - Very frequent | | | 66 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | SHOX CL E G H | 6473 | 10853 | OMIM:127300 | Leri-Weill dyschondrosteosis | | | | 66 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | SHOX CL E G H | 6473 | 10853 | ORPHA:314795 | SHOX-related short stature | HP:0040281 - Very frequent | | | 66 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | SHOX CL E G H | 6473 | 10853 | ORPHA:314795 | SHOX-related short stature | HP:0040281 - Very frequent | | | 66 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | | | | 150 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | SKI CL E G H | 6497 | 10896 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | SLC10A7 CL E G H | 84068 | 23088 | OMIM:618363 | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | . | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | HP:0040282 - Frequent | | | 166 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:222600 | Diastrophic dysplasia | | | | 166 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | HP:0040282 - Frequent | | | 166 | | |
HP:0002979 | HP:0010502 | Fibular bowing | 1 | SLC34A3 CL E G H | 142680 | 20305 | OMIM:241530 | Hypophosphatemic rickets with hypercalciuria, hereditary | . | | | 52 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | SLC34A3 CL E G H | 142680 | 20305 | OMIM:241530 | Hypophosphatemic rickets with hypercalciuria, hereditary | . | | | 52 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | SLC34A3 CL E G H | 142680 | 20305 | OMIM:241530 | Hypophosphatemic rickets with hypercalciuria, hereditary | . | | | 52 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | SLCO2A1 CL E G H | 6578 | 10955 | ORPHA:2796 | Pachydermoperiostosis | HP:0040283 - Occasional | | | 13 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | HP:0040282 - Frequent | | | 15 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | . | | | 15 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | . | | | 109 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:140 | Campomelic dysplasia | HP:0040282 - Frequent | | | 109 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:140 | Campomelic dysplasia | HP:0040281 - Very frequent | | | 109 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | SPART CL E G H | 23111 | 18514 | ORPHA:101000 | Autosomal recessive spastic paraplegia type 20 | HP:0040283 - Occasional | | | 66 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040281 - Very frequent | | | 31 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | TENT5A CL E G H | 55603 | 18345 | OMIM:617952 | Osteogenesis imperfecta, type XVIII | | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | TGFB1 CL E G H | 7040 | 11766 | OMIM:131300 | Camurati-Engelmann disease | | | | 13 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:1328 | Camurati-Engelmann disease | HP:0040283 - Occasional | | | 13 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | TMEM38B CL E G H | 55151 | 25535 | OMIM:615066 | OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14 | | | | 4 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:602080 | Paget disease of bone 2, early-onset | | | | 72 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | TNFRSF11B CL E G H | 4982 | 11909 | OMIM:239000 | Paget disease of bone 5, juvenile-onset | | | | 44 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | TNFSF11 CL E G H | 8600 | 11926 | OMIM:259710 | Osteopetrosis, autosomal recessive 2 | . | | | 44 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | HP:0040282 - Frequent | | | | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | . | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | . | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | TRIP11 CL E G H | 9321 | 12305 | OMIM:184260 | Osteochondrodysplasia | . | | | 133 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | TRPS1 CL E G H | 7227 | 12340 | ORPHA:502 | Trichorhinophalangeal syndrome type 2 | HP:0040283 - Occasional | | | 171 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | | | | 214 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:168400 | Parastremmatic dwarfism | . | | | 214 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:184095 | Spondyloepiphyseal dysplasia, Maroteaux type | . | | | 214 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:93314 | Spondylometaphyseal dysplasia, Kozlowski type | HP:0040282 - Frequent | | | 214 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | TRPV6 CL E G H | 55503 | 14006 | OMIM:618188 | Hyperparathyroidism, transient neonatal | . | | | 4 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | HP:0040283 - Occasional | | | 64 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | UFSP2 CL E G H | 55325 | 25640 | OMIM:617974 | Spondyloepimetaphyseal dysplasia, DI Rocco type | . | | | 2 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | UGP2 CL E G H | 7360 | 12527 | OMIM:618744 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83 | | | | | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | VDR CL E G H | 7421 | 12679 | ORPHA:93160 | Hypocalcemic vitamin D-resistant rickets | HP:0040282 - Frequent | | | 104 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | VDR CL E G H | 7421 | 12679 | ORPHA:93160 | Hypocalcemic vitamin D-resistant rickets | HP:0040283 - Occasional | | | 104 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | . | | | 104 | | |
HP:0002979 | HP:0010502 | Fibular bowing | 1 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | . | | | 104 | | |
HP:0002979 | HP:0002982 | Tibial bowing | 1 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | . | | | 104 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | HP:0040282 - Frequent | | | 546 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | . | | | 546 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | | | | 224 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | WNT7A CL E G H | 7476 | 12786 | OMIM:228930 | Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly | | | | 13 | | |
HP:0002979 | HP:0002980 | Femoral bowing | 1 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | | | | 13 | | |
HP:0002979 | HP:0002970 | Genu varum | 1 | XYLT1 CL E G H | 64131 | 15516 | OMIM:615777 | Desbuquois dysplasia 2 | . | | | 14 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | . | | | 17 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040283 - Occasional | | | 362 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040283 - Occasional | | | 362 | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0002979 | HP:0002857 | Genu valgum | 1 | ZPR1 CL E G H | 8882 | 13051 | OMIM:619321 | GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF | | | | | | |
HP:0002979 | HP:0006414 | Distal tibial bowing | 2 | COL10A1 CL E G H | 1300 | 2185 | OMIM:156500 | Metaphyseal chondrodysplasia, Schmid type | . | | | 79 | | |
HP:0002979 | HP:0005005 | Femoral bowing present at birth, straightening with time | 2 | COL1A1 CL E G H | 1277 | 2197 | OMIM:166220 | Osteogenesis imperfecta, type IV | . | | | 373 | | |
HP:0002979 | HP:0005005 | Femoral bowing present at birth, straightening with time | 2 | COL1A2 CL E G H | 1278 | 2198 | OMIM:166220 | Osteogenesis imperfecta, type IV | . | | | 243 | | |
HP:0002979 | HP:0100531 | Wind-swept deformity of the knees | 2 | COMP CL E G H | 1311 | 2227 | ORPHA:750 | Pseudoachondroplasia | HP:0040282 - Frequent | | | 89 | | |
HP:0002979 | HP:0005096 | Distal femoral bowing | 2 | DMP1 CL E G H | 1758 | 2932 | ORPHA:289176 | Autosomal recessive hypophosphatemic rickets | HP:0040281 - Very frequent | | | 48 | | |
HP:0002979 | HP:0005096 | Distal femoral bowing | 2 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:289176 | Autosomal recessive hypophosphatemic rickets | HP:0040281 - Very frequent | | | 151 | | |
HP:0002979 | HP:0005090 | Lateral femoral bowing | 2 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | . | | | 493 | | |
HP:0002979 | HP:0005096 | Distal femoral bowing | 2 | GDF5 CL E G H | 8200 | 4220 | OMIM:201250 | Acromesomelic dysplasia, Hunter-Thompson type | . | | | 52 | | |
HP:0002979 | HP:0005096 | Distal femoral bowing | 2 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0002979 | HP:0006390 | Anterior tibial bowing | 2 | SATB2 CL E G H | 23314 | 21637 | OMIM:612313 | Glass syndrome | | | | 34 | | |
HP:0002979 | HP:0006390 | Anterior tibial bowing | 2 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | . | | | 109 | | |
HP:0002979 | HP:0005090 | Lateral femoral bowing | 2 | TNFRSF11B CL E G H | 4982 | 11909 | OMIM:239000 | Paget disease of bone 5, juvenile-onset | | | | 44 | | |