Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0002808 | HP:0002808 | Kyphosis | 0 | ABCC6 CL E G H | 368 | 177850 | Pseudoxanthoma elasticum, forme fruste | 177850 | C1867450 | OMIM | 1 | | 1307 | 57 | 603234 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | ACP5 CL E G H | 54 | 1855 | | | | ORPHA | 1 | | 224 | 124 | 171640 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 406 | 132 | 102630 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | AGA CL E G H | 175 | 208400 | Aspartylglucosaminuria | 208400 | C0268225 | OMIM | 1 | | 413 | 318 | 613228 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | AIFM1 CL E G H | 9131 | 101078 | | | | ORPHA | 1 | | 487 | 8768 | 300169 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | AIP CL E G H | 9049 | 963 | | | | ORPHA | 1 | | 741 | 358 | 605555 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | AIP CL E G H | 9049 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 741 | 358 | 605555 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | AKT1 CL E G H | 207 | 744 | Aortic valves stenosis of the child | | | ORPHA | 1 | | 634 | 391 | 164730 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | AKT1 CL E G H | 207 | 615109 | Cowden syndrome 6 | 615109 | C3554519 | OMIM | 1 | | 634 | 391 | 164730 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 538 | 403 | 609523 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 4321 | 428 | 606844 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 1206 | 18040 | 614556 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | ASAH1 CL E G H | 427 | 333 | | | | ORPHA | 1 | | 712 | 735 | 613468 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | ASXL2 CL E G H | 55252 | 617190 | Shashi-Pena syndrome | 617190 | C4310672 | OMIM | 1 | | 232 | 23805 | 612991 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | ATP6V0A2 CL E G H | 23545 | 278250 | Wrinkly skin syndrome | 278250 | C0406587 | OMIM | 1 | | 484 | 18481 | 611716 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | ATP7A CL E G H | 538 | 304150 | Cutis laxa, X-linked | 304150 | C0268353 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | AUTS2 CL E G H | 26053 | 615834 | Mental retardation, autosomal dominant 26 | 615834 | C4014435 | OMIM | 1 | | 511 | 14262 | 607270 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | B3GALT6 CL E G H | 126792 | 93359 | | | | ORPHA | 1 | | 366 | 17978 | 615291 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 196 | 961 | 605681 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | BGN CL E G H | 633 | 300106 | Spondyloepimetaphyseal dysplasia X-linked | 300106 | C1848097 | OMIM | 1 | | 394 | 1044 | 301870 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | BICD2 CL E G H | 23299 | 618291 | 618291 | 618291 | | OMIM | 1 | | 590 | 17208 | 609797 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 552 | 1052 | 601248 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | CANT1 CL E G H | 124583 | 251450 | Desbuquois dysplasia 1 | 251450 | C4012146 | OMIM | 1 | | 239 | 19721 | 613165 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | CBS CL E G H | 875 | 394 | | | | ORPHA | 1 | | 967 | 1550 | 613381 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | CCDC22 CL E G H | 28952 | 7 | Typical Joubert syndrome MRI findings | | CN228298 | ORPHA | 1 | | 252 | 28909 | 300859 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | CCN6 CL E G H | 8838 | 1159 | | | | ORPHA | 1 | | 122 | 12771 | 603400 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | CHRNG CL E G H | 1146 | 265000 | Multiple pterygium syndrome Escobar type | 265000 | C0265261 | OMIM | 1 | | 220 | 1967 | 100730 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | CLCF1 CL E G H | 23529 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 33 | 17412 | 607672 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | CLIP2 CL E G H | 7461 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 181 | 2586 | 603432 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | COL11A2 CL E G H | 1302 | 1427 | | | | ORPHA | 1 | | 1240 | 2187 | 120290 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | COL12A1 CL E G H | 1303 | 75840 | | | | ORPHA | 1 | | 1944 | 2188 | 120320 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | COL12A1 CL E G H | 1303 | 616471 | Bethlem myopathy 2 | 616471 | C4225313 | OMIM | 1 | | 1944 | 2188 | 120320 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | COL1A1 CL E G H | 1277 | 130060 | Ehlers-Danlos syndrome, procollagen proteinase deficient | 130060 | C0268345 | OMIM | 1 | | 2016 | 2197 | 120150 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | COL1A1 CL E G H | 1277 | 259420 | Osteogenesis imperfecta type III | 259420 | C0268362 | OMIM | 1 | | 2016 | 2197 | 120150 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | COL1A1 CL E G H | 1277 | 166220 | Osteogenesis imperfecta with normal sclerae, dominant form | 166220 | C0268363 | OMIM | 1 | | 2016 | 2197 | 120150 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | COL1A2 CL E G H | 1278 | 617821 | EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | 617821 | CN706304 | OMIM | 1 | | 1458 | 2198 | 120160 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | COL1A2 CL E G H | 1278 | 259420 | Osteogenesis imperfecta type III | 259420 | C0268362 | OMIM | 1 | | 1458 | 2198 | 120160 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | COL1A2 CL E G H | 1278 | 166220 | Osteogenesis imperfecta with normal sclerae, dominant form | 166220 | C0268363 | OMIM | 1 | | 1458 | 2198 | 120160 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | COL2A1 CL E G H | 1280 | 93346 | | | | ORPHA | 1 | | 1820 | 2200 | 120140 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | COL2A1 CL E G H | 1280 | 485 | | | | ORPHA | 1 | | 1820 | 2200 | 120140 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | COL2A1 CL E G H | 1280 | 183900 | Spondyloepiphyseal dysplasia | 183900 | C0038015 | OMIM | 1 | | 1820 | 2200 | 120140 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | COL2A1 CL E G H | 1280 | 271700 | Spondyloperipheral dysplasia | 271700 | C0796173 | OMIM | 1 | | 1820 | 2200 | 120140 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | COL2A1 CL E G H | 1280 | 108300 | Stickler syndrome type 1 | 108300 | C2020284 | OMIM | 1 | | 1820 | 2200 | 120140 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | COL6A1 CL E G H | 1291 | 75840 | | | | ORPHA | 1 | | 1470 | 2211 | 120220 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | COL6A1 CL E G H | 1291 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 1470 | 2211 | 120220 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | COL6A2 CL E G H | 1292 | 75840 | | | | ORPHA | 1 | | 1644 | 2212 | 120240 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | COL6A2 CL E G H | 1292 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 1644 | 2212 | 120240 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | COL6A3 CL E G H | 1293 | 75840 | | | | ORPHA | 1 | | 2414 | 2213 | 120250 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | COL6A3 CL E G H | 1293 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 2414 | 2213 | 120250 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | COMP CL E G H | 1311 | 177170 | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 177170 | C0410538 | OMIM | 1 | | 426 | 2227 | 600310 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | CPLX1 CL E G H | 10815 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 167 | 2309 | 605032 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | CRLF1 CL E G H | 9244 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 80 | 2364 | 604237 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | CTBP1 CL E G H | 1487 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 217 | 2494 | 602618 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | CUL4B CL E G H | 8450 | 300354 | Syndromic X-linked mental retardation, Cabezas type | 300354 | C1845861 | OMIM | 1 | | 347 | 2555 | 300304 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | DLL3 CL E G H | 10683 | 2311 | Autosomal recessive spondylocostal dysostosis | | CN043670 | ORPHA | 1 | | 248 | 2909 | 602768 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | DYM CL E G H | 54808 | 239 | | | | ORPHA | 1 | | 260 | 21317 | 607461 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | DYM CL E G H | 54808 | 607326 | Smith-McCort dysplasia 1 | 607326 | C1846431 | OMIM | 1 | | 260 | 21317 | 607461 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | EBP CL E G H | 10682 | 35173 | | | | ORPHA | 1 | | 291 | 3133 | 300205 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | ELN CL E G H | 2006 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | ERCC6 CL E G H | 2074 | 133540 | Cockayne syndrome B | 133540 | C0751038 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | ERCC8 CL E G H | 1161 | 216400 | Cockayne syndrome type A | 216400 | C0751039 | OMIM | 1 | | 390 | 3439 | 609412 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | ERLIN2 CL E G H | 11160 | 209951 | | | | ORPHA | 1 | | 159 | 1356 | 611605 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | ERLIN2 CL E G H | 11160 | 611225 | Spastic paraplegia 18 | 611225 | C2749936 | OMIM | 1 | | 159 | 1356 | 611605 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | EZH2 CL E G H | 2146 | 277590 | Weaver syndrome | 277590 | C0265210 | OMIM | 1 | | 416 | 3527 | 601573 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | FGFR3 CL E G H | 2261 | 1860 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | FGFR3 CL E G H | 2261 | 15 | Antisocial personality disorder | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | FGFR3 CL E G H | 2261 | 616482 | Severe achondroplasia with developmental delay and acanthosis nigricans | 616482 | C2674173 | OMIM | 1 | | 746 | 3690 | 134934 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | FGFRL1 CL E G H | 53834 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 288 | 3693 | 605830 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | FHL1 CL E G H | 2273 | 300718 | Myopathy, reducing body, X-linked, childhood-onset | 300718 | C2678015 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | FHL1 CL E G H | 2273 | 300280 | Uruguay faciocardiomusculoskeletal syndrome | 300280 | C1846010 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | FKBP10 CL E G H | 60681 | 259450 | Bruck syndrome 1 | 259450 | C1850168 | OMIM | 1 | | 292 | 18169 | 607063 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | FKBP10 CL E G H | 60681 | 2771 | Hydrocephalus costovertebral dysplasia Sprengel anomaly | | | ORPHA | 1 | | 292 | 18169 | 607063 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | FKRP CL E G H | 79147 | 606612 | Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 | 606612 | C1847759 | OMIM | 1 | | 787 | 17997 | 606596 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | FKRP CL E G H | 79147 | 607155 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 | 607155 | C1846672 | OMIM | 1 | | 787 | 17997 | 606596 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | FOXG1 CL E G H | 2290 | 261144 | | | | ORPHA | 1 | | 614 | 3811 | 164874 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | FOXG1 CL E G H | 2290 | 613454 | Rett syndrome, congenital variant | 613454 | C3150705 | OMIM | 1 | | 614 | 3811 | 164874 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | FUCA1 CL E G H | 2517 | 349 | Neuroaxonal dystrophy renal tubular acidosis | | | ORPHA | 1 | | 222 | 4006 | 612280 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | GALNS CL E G H | 2588 | 253000 | Mucopolysaccharidosis, MPS-IV-A | 253000 | C0086651 | OMIM | 1 | | 944 | 4122 | 612222 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | GBA CL E G H | 2629 | 77259 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | GLB1 CL E G H | 2720 | 230650 | Gangliosidosis GM1 type 3 | 230650 | C0268273 | OMIM | 1 | | 696 | 4298 | 611458 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | GLB1 CL E G H | 2720 | 230500 | Infantile GM1 gangliosidosis | 230500 | C0268271 | OMIM | 1 | | 696 | 4298 | 611458 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | GLB1 CL E G H | 2720 | 253010 | Mucopolysaccharidosis, MPS-IV-B | 253010 | C0086652 | OMIM | 1 | | 696 | 4298 | 611458 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | GNAS CL E G H | 2778 | 219080 | Cushing's syndrome | 219080 | C1857451 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | GNPTG CL E G H | 84572 | 252605 | Mucolipidosis III Gamma | 252605 | C1854896 | OMIM | 1 | | 603 | 23026 | 607838 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | GPR101 CL E G H | 83550 | 963 | | | | ORPHA | 1 | | 194 | 14963 | 300393 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | GTF2I CL E G H | 2969 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 163 | 4659 | 601679 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | GTF2IRD1 CL E G H | 9569 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 218 | 4661 | 604318 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 79 | 4670 | 607434 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | HACE1 CL E G H | 57531 | 464282 | | | | ORPHA | 1 | | 107 | 21033 | 610876 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | HERC1 CL E G H | 8925 | 617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | 617011 | C4310766 | OMIM | 1 | | 618 | 4867 | 605109 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | HERC2 CL E G H | 8924 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 641 | 4868 | 605837 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | HES7 CL E G H | 84667 | 2311 | Autosomal recessive spondylocostal dysostosis | | CN043670 | ORPHA | 1 | | 96 | 15977 | 608059 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | HGD CL E G H | 3081 | 203500 | Alkaptonuria | 203500 | C0002066 | OMIM | 1 | | 272 | 4892 | 607474 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | HTT CL E G H | 3064 | 617435 | Lopes-Maciel-Rodan syndrome | 617435 | C4479491 | OMIM | 1 | | 735 | 4851 | 613004 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | IDS CL E G H | 3423 | 309900 | Mucopolysaccharidosis, MPS-II | 309900 | C0026705 | OMIM | 1 | | 768 | 5389 | 300823 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | IDUA CL E G H | 3425 | 607014 | Dysostosis multiplex | 607014 | C0086795 | OMIM | 1 | | 1313 | 5391 | 252800 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | IDUA CL E G H | 3425 | 607015 | Mucopolysaccharidosis, MPS-I-H/S | 607015 | C0086431 | OMIM | 1 | | 1313 | 5391 | 252800 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | IPW CL E G H | 3653 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 294 | 6109 | 601491 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | KANSL1 CL E G H | 284058 | 610443 | Koolen-de Vries syndrome | 610443 | C1864871 | OMIM | 1 | | 1218 | 24565 | 612452 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | KIF22 CL E G H | 3835 | 93360 | | | | ORPHA | 1 | | 411 | 6391 | 603213 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | KLC2 CL E G H | 64837 | 609541 | Spastic paraplegia, optic atrophy, and neuropathy | 609541 | C1836010 | OMIM | 1 | | 61 | 20716 | 611729 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | KMT2C CL E G H | 58508 | 617768 | KLEEFSTRA SYNDROME 2 | 617768 | C4540395 | OMIM | 1 | | 851 | 13726 | 606833 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | KY CL E G H | 339855 | 617114 | Myopathy, myofibrillar, 7 | 617114 | C4310711 | OMIM | 1 | | 87 | 26576 | 605739 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | L1CAM CL E G H | 3897 | 303350 | Spastic paraplegia 1 | 303350 | C0795953 | OMIM | 1 | | 794 | 6470 | 308840 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | LAS1L CL E G H | 81887 | 309585 | Wilson-Turner X-linked mental retardation syndrome | 309585 | C1839736 | OMIM | 1 | | 243 | 25726 | 300964 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | LETM1 CL E G H | 3954 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 263 | 6556 | 604407 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | LETM1 CL E G H | 3954 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 263 | 6556 | 604407 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | LFNG CL E G H | 3955 | 2311 | Autosomal recessive spondylocostal dysostosis | | CN043670 | ORPHA | 1 | | 219 | 6560 | 602576 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | LIMK1 CL E G H | 3984 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 201 | 6613 | 601329 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | LMNA CL E G H | 4000 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | MAGEL2 CL E G H | 54551 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 620 | 6814 | 605283 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | MAGEL2 CL E G H | 54551 | 615547 | Schaaf-yang syndrome | 615547 | C3809877 | OMIM | 1 | | 620 | 6814 | 605283 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | MECP2 CL E G H | 4204 | 312750 | Rett syndrome | 312750 | C0035372 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | MESP2 CL E G H | 145873 | 2311 | Autosomal recessive spondylocostal dysostosis | | CN043670 | ORPHA | 1 | | 337 | 29659 | 605195 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | MFN2 CL E G H | 9927 | 617087 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | 617087 | C4310725 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | MGME1 CL E G H | 92667 | 352447 | | | | ORPHA | 1 | | 78 | 16205 | 615076 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | MGME1 CL E G H | 92667 | 615084 | Mitochondrial DNA depletion syndrome 11 | 615084 | C3554462 | OMIM | 1 | | 78 | 16205 | 615076 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | MKRN3 CL E G H | 7681 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 322 | 7114 | 603856 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | MKRN3-AS1 CL E G H | 10108 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | | 12910 | 603857 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | NDN CL E G H | 4692 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 303 | 7675 | 602117 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | NDUFAF1 CL E G H | 51103 | 618234 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | 618234 | | OMIM | 1 | | 108 | 18828 | 606934 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | NELFA CL E G H | 7469 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 174 | 12768 | 606026 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | NONO CL E G H | 4841 | 300967 | Mental retardation, X-linked, syndromic 34 | 300967 | C4225417 | OMIM | 1 | | 204 | 7871 | 300084 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | NOTCH3 CL E G H | 4854 | 130720 | Lehman syndrome | 130720 | C1851710 | OMIM | 1 | | 1133 | 7883 | 600276 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | NPAP1 CL E G H | 23742 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 327 | 1190 | 610922 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | NPR2 CL E G H | 4882 | 40 | | | | ORPHA | 1 | | 393 | 7944 | 108961 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | NSD2 CL E G H | 7468 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 363 | 12766 | 602952 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | NSD2 CL E G H | 7468 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 363 | 12766 | 602952 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | NSDHL CL E G H | 50814 | 300831 | NSDHL-Related Disorders | 300831 | C3151781 | OMIM | 1 | | 312 | 13398 | 300275 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | NXN CL E G H | 64359 | 1507 | Congenital unilateral pulmonary hypoplasia | | | ORPHA | 1 | | 235 | 18008 | 612895 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | OCRL CL E G H | 4952 | 309000 | Lowe syndrome | 309000 | C0028860 | OMIM | 1 | | 508 | 8108 | 300535 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | P3H1 CL E G H | 64175 | 610915 | Osteogenesis imperfecta type 8 | 610915 | C1970458 | OMIM | 1 | | 496 | 19316 | 610339 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | P4HB CL E G H | 5034 | 2050 | Ectodermal dysplasia Margarita type | | | ORPHA | 1 | | 167 | 8548 | 176790 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | PDE11A CL E G H | 50940 | 610475 | Pigmented nodular adrenocortical disease, primary, 2 | 610475 | C1864851 | OMIM | 1 | | 150 | 8773 | 604961 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | PHF6 CL E G H | 84295 | 301900 | Borjeson-Forssman-Lehmann syndrome | 301900 | C0265339 | OMIM | 1 | | 285 | 18145 | 300414 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | PIEZO2 CL E G H | 63895 | 2461 | | | | ORPHA | 1 | | 755 | 26270 | 613629 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | PIEZO2 CL E G H | 63895 | 248700 | Marden-Walker syndrome | 248700 | C0796033 | OMIM | 1 | | 755 | 26270 | 613629 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | PIK3CA CL E G H | 5290 | 615108 | Cowden syndrome 5 | 615108 | C3554518 | OMIM | 1 | | 975 | 8975 | 171834 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | PIK3R2 CL E G H | 5296 | 603387 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 603387 | C1863924 | OMIM | 1 | | 232 | 8980 | 603157 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | PLAA CL E G H | 9373 | 521426 | | | | ORPHA | 1 | | 338 | 9043 | 603873 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | PLOD1 CL E G H | 5351 | 1900 | | | | ORPHA | 1 | | 794 | 9081 | 153454 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | PLOD1 CL E G H | 5351 | 225400 | Ehlers-Danlos syndrome, hydroxylysine-deficient | 225400 | C0268342 | OMIM | 1 | | 794 | 9081 | 153454 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | PLOD2 CL E G H | 5352 | 2771 | Hydrocephalus costovertebral dysplasia Sprengel anomaly | | | ORPHA | 1 | | 305 | 9082 | 601865 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | PMM2 CL E G H | 5373 | 212065 | Carbohydrate-deficient glycoprotein syndrome type I | 212065 | C0349653 | OMIM | 1 | | 609 | 9115 | 601785 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 3858 | 9175 | 174761 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | PPIB CL E G H | 5479 | 259440 | Osteogenesis imperfecta type 9 | 259440 | C1850169 | OMIM | 1 | | 121 | 9255 | 123841 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | PRKAR1A CL E G H | 5573 | 610489 | Pigmented nodular adrenocortical disease, primary, 1 | 610489 | C1864846 | OMIM | 1 | | 916 | 9388 | 188830 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | PTCH1 CL E G H | 5727 | 77301 | | | | ORPHA | 1 | | 3848 | 9585 | 601309 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | PTEN CL E G H | 5728 | 744 | Aortic valves stenosis of the child | | | ORPHA | 1 | | 2750 | 9588 | 601728 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | PTEN CL E G H | 5728 | 158350 | Cowden syndrome 1 | 158350 | CN072330 | OMIM | 1 | | 2750 | 9588 | 601728 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | PUS1 CL E G H | 80324 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 337 | 15508 | 608109 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | PWAR1 CL E G H | 145624 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 295 | 30089 | 600161 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | PWRN1 CL E G H | 791114 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 305 | 33235 | 611215 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | RAB18 CL E G H | 22931 | 2510 | | | | ORPHA | 1 | | 180 | 14244 | 602207 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | RAB3GAP1 CL E G H | 22930 | 2510 | | | | ORPHA | 1 | | 317 | 17063 | 602536 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | RAB3GAP2 CL E G H | 25782 | 2510 | | | | ORPHA | 1 | | 474 | 17168 | 609275 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | RET CL E G H | 5979 | 162300 | Multiple endocrine neoplasia, type 2b | 162300 | C0025269 | OMIM | 1 | | 2692 | 9967 | 164761 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | RFC2 CL E G H | 5982 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 180 | 9970 | 600404 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | RIPPLY2 CL E G H | 134701 | 2311 | Autosomal recessive spondylocostal dysostosis | | CN043670 | ORPHA | 1 | | 69 | 21390 | 609891 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | ROBO3 CL E G H | 64221 | 2744 | | | | ORPHA | 1 | | 234 | 13433 | 608630 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | ROR2 CL E G H | 4920 | 1507 | Congenital unilateral pulmonary hypoplasia | | | ORPHA | 1 | | 474 | 10257 | 602337 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | RPS6KA3 CL E G H | 6197 | 303600 | Coffin-Lowry syndrome | 303600 | C0265252 | OMIM | 1 | | 426 | 10432 | 300075 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | RPS6KA3 CL E G H | 6197 | 192 | Karandikar Maria Kamble syndrome | | | ORPHA | 1 | | 426 | 10432 | 300075 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | RUNX2 CL E G H | 860 | 119600 | Cleidocranial dysostosis | 119600 | C0008928 | OMIM | 1 | | 373 | 10472 | 600211 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | SCARB2 CL E G H | 950 | 77259 | | | | ORPHA | 1 | | 422 | 1665 | 602257 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | SEC24D CL E G H | 9871 | 616294 | Cole-Carpenter syndrome 2 | 616294 | C4225382 | OMIM | 1 | | 286 | 10706 | 607186 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | SEC24D CL E G H | 9871 | 2050 | Ectodermal dysplasia Margarita type | | | ORPHA | 1 | | 286 | 10706 | 607186 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | SETD5 CL E G H | 55209 | 615761 | Mental retardation, autosomal dominant 23 | 615761 | C3810406 | OMIM | 1 | | 617 | 25566 | 615743 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | SH3PXD2B CL E G H | 285590 | 137834 | | | | ORPHA | 1 | | 428 | 29242 | 613293 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | SHROOM4 CL E G H | 57477 | 300434 | Stocco dos Santos syndrome | 300434 | C1845530 | OMIM | 1 | | 275 | 29215 | 300579 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | SIL1 CL E G H | 64374 | 248800 | Marinesco-Sjögren syndrome | 248800 | C0024814 | OMIM | 1 | | 229 | 24624 | 608005 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | SLC26A2 CL E G H | 1836 | 628 | | | | ORPHA | 1 | | 549 | 10994 | 606718 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | SLC52A3 CL E G H | 113278 | 211530 | Brown-Vialetto-Van Laere syndrome 1 | 211530 | CN029849 | OMIM | 1 | | 399 | 16187 | 613350 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | SLC5A7 CL E G H | 60482 | 617143 | Myasthenic syndrome, congenital, 20, presynaptic | 617143 | C4310694 | OMIM | 1 | | 375 | 14025 | 608761 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | SNORD115-1 CL E G H | 338433 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 297 | 33020 | 609837 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | SNORD116-1 CL E G H | 100033413 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 297 | 33067 | 605436 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | SNRPB CL E G H | 6628 | 1393 | | | | ORPHA | 1 | | 74 | 11153 | 182282 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | SNRPN CL E G H | 6638 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 377 | 11164 | 182279 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | SON CL E G H | 6651 | 617140 | ZTTK syndrome | 617140 | C4310696 | OMIM | 1 | | 549 | 11183 | 182465 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | TBC1D20 CL E G H | 128637 | 2510 | | | | ORPHA | 1 | | 154 | 16133 | 611663 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | TBL2 CL E G H | 26608 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 166 | 11586 | 605842 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | TBX2 CL E G H | 6909 | 618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | 618223 | | OMIM | 1 | | 70 | 11597 | 600747 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | TBX5 CL E G H | 6910 | 392 | Weinstein Kliman Scully syndrome | | | ORPHA | 1 | | 545 | 11604 | 601620 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | TFAP2A CL E G H | 7020 | 113620 | Branchiooculofacial syndrome | 113620 | C0376524 | OMIM | 1 | | 158 | 11742 | 107580 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | TLK2 CL E G H | 11011 | 618050 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 57 | 618050 | CN252334 | OMIM | 1 | | 122 | 11842 | 608439 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | TNFRSF11B CL E G H | 4982 | 239000 | Hyperphosphatasemia with bone disease | 239000 | C0268414 | OMIM | 1 | | 168 | 11909 | 602643 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | TOR1A CL E G H | 1861 | 128100 | Dystonia 1 | 128100 | C1851945 | OMIM | 1 | | 172 | 3098 | 605204 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | TPI1 CL E G H | 7167 | 615512 | Triosephosphate isomerase deficiency | 615512 | C1860808 | OMIM | 1 | | 144 | 12009 | 190450 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | TRAPPC2 CL E G H | 6399 | 313400 | Spondyloepiphyseal dysplasia tarda | 313400 | C3541456 | OMIM | 1 | | 291 | 23068 | 300202 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | TRPV4 CL E G H | 59341 | 2635 | | | | ORPHA | 1 | | 891 | 18083 | 605427 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | TRPV4 CL E G H | 59341 | 93314 | | | | ORPHA | 1 | | 891 | 18083 | 605427 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | TRPV4 CL E G H | 59341 | 113500 | Brachyrachia (short spine dysplasia) | 113500 | C0432227 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | TRPV4 CL E G H | 59341 | 600175 | Distal spinal muscular atrophy, congenital nonprogressive | 600175 | C1838492 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | TRPV4 CL E G H | 59341 | 156530 | Metatrophic dysplasia | 156530 | C0265281 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | TRPV4 CL E G H | 59341 | 168400 | Parastremmatic dwarfism | 168400 | C1868616 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | TRPV4 CL E G H | 59341 | 181405 | Scapuloperoneal spinal muscular atrophy | 181405 | C0751335 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | UBA1 CL E G H | 7317 | 1145 | | | | ORPHA | 1 | | 531 | 12469 | 314370 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | UPF3B CL E G H | 65109 | 300676 | Mental retardation, syndromic 14, X-linked | 300676 | C1970822 | OMIM | 1 | | 314 | 20439 | 300298 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | USP8 CL E G H | 9101 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 134 | 12631 | 603158 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | VPS37A CL E G H | 137492 | 319199 | | | | ORPHA | 1 | | 198 | 24928 | 609927 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | VPS37A CL E G H | 137492 | 614898 | Spastic paraplegia 53, autosomal recessive | 614898 | C3539494 | OMIM | 1 | | 198 | 24928 | 609927 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | WASHC5 CL E G H | 9897 | 7 | Typical Joubert syndrome MRI findings | | CN228298 | ORPHA | 1 | | 527 | 28984 | 610657 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | WHCR CL E G H | 7467 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | | 12764 | 0 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | YARS2 CL E G H | 51067 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 156 | 24249 | 610957 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | ZBTB20 CL E G H | 26137 | 3042 | | | | ORPHA | 1 | | 168 | 13503 | 606025 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | ZBTB20 CL E G H | 26137 | 259050 | Primrose syndrome | 259050 | C0796121 | OMIM | 1 | | 168 | 13503 | 606025 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0002808 | HP:0002808 | Kyphosis | 0 | ZMPSTE24 CL E G H | 10269 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 176 | 12877 | 606480 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | ABCC6 CL E G H | 368 | 177850 | Pseudoxanthoma elasticum, forme fruste | 177850 | C1867450 | OMIM | 1 | | 1307 | 57 | 603234 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | ABCC6 CL E G H | 368 | 177850 | Pseudoxanthoma elasticum, forme fruste | 177850 | C1867450 | OMIM | 1 | | 1307 | 57 | 603234 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | ABCC6 CL E G H | 368 | 177850 | Pseudoxanthoma elasticum, forme fruste | 177850 | C1867450 | OMIM | 1 | | 1307 | 57 | 603234 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | ACP5 CL E G H | 54 | 1855 | | | | ORPHA | 1 | | 224 | 124 | 171640 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | ACP5 CL E G H | 54 | 1855 | | | | ORPHA | 1 | | 224 | 124 | 171640 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | ACP5 CL E G H | 54 | 1855 | | | | ORPHA | 1 | | 224 | 124 | 171640 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 406 | 132 | 102630 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 406 | 132 | 102630 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | ACTB CL E G H | 60 | 79107 | | | | ORPHA | 1 | | 406 | 132 | 102630 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | AGA CL E G H | 175 | 208400 | Aspartylglucosaminuria | 208400 | C0268225 | OMIM | 1 | | 413 | 318 | 613228 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | AGA CL E G H | 175 | 208400 | Aspartylglucosaminuria | 208400 | C0268225 | OMIM | 1 | | 413 | 318 | 613228 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | AGA CL E G H | 175 | 208400 | Aspartylglucosaminuria | 208400 | C0268225 | OMIM | 1 | | 413 | 318 | 613228 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | AIFM1 CL E G H | 9131 | 101078 | | | | ORPHA | 1 | | 487 | 8768 | 300169 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | AIFM1 CL E G H | 9131 | 101078 | | | | ORPHA | 1 | | 487 | 8768 | 300169 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | AIFM1 CL E G H | 9131 | 101078 | | | | ORPHA | 1 | | 487 | 8768 | 300169 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | AIP CL E G H | 9049 | 963 | | | | ORPHA | 1 | | 741 | 358 | 605555 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | AIP CL E G H | 9049 | 963 | | | | ORPHA | 1 | | 741 | 358 | 605555 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | AIP CL E G H | 9049 | 963 | | | | ORPHA | 1 | | 741 | 358 | 605555 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | AIP CL E G H | 9049 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 741 | 358 | 605555 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | AIP CL E G H | 9049 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 741 | 358 | 605555 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | AIP CL E G H | 9049 | 219090 | Pituitary dependent hypercortisolism | 219090 | C0221406 | OMIM | 1 | | 741 | 358 | 605555 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | AKT1 CL E G H | 207 | 744 | Aortic valves stenosis of the child | | | ORPHA | 1 | | 634 | 391 | 164730 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | AKT1 CL E G H | 207 | 744 | Aortic valves stenosis of the child | | | ORPHA | 1 | | 634 | 391 | 164730 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | AKT1 CL E G H | 207 | 744 | Aortic valves stenosis of the child | | | ORPHA | 1 | | 634 | 391 | 164730 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | AKT1 CL E G H | 207 | 615109 | Cowden syndrome 6 | 615109 | C3554519 | OMIM | 1 | | 634 | 391 | 164730 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | AKT1 CL E G H | 207 | 615109 | Cowden syndrome 6 | 615109 | C3554519 | OMIM | 1 | | 634 | 391 | 164730 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | AKT1 CL E G H | 207 | 615109 | Cowden syndrome 6 | 615109 | C3554519 | OMIM | 1 | | 634 | 391 | 164730 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 538 | 403 | 609523 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 538 | 403 | 609523 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | ALDH3A2 CL E G H | 224 | 816 | | | | ORPHA | 1 | | 538 | 403 | 609523 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 4321 | 428 | 606844 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 4321 | 428 | 606844 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 4321 | 428 | 606844 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 1206 | 18040 | 614556 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 1206 | 18040 | 614556 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 1206 | 18040 | 614556 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | ASAH1 CL E G H | 427 | 333 | | | | ORPHA | 1 | | 712 | 735 | 613468 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | ASAH1 CL E G H | 427 | 333 | | | | ORPHA | 1 | | 712 | 735 | 613468 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | ASAH1 CL E G H | 427 | 333 | | | | ORPHA | 1 | | 712 | 735 | 613468 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | ASXL2 CL E G H | 55252 | 617190 | Shashi-Pena syndrome | 617190 | C4310672 | OMIM | 1 | | 232 | 23805 | 612991 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | ASXL2 CL E G H | 55252 | 617190 | Shashi-Pena syndrome | 617190 | C4310672 | OMIM | 1 | | 232 | 23805 | 612991 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | ASXL2 CL E G H | 55252 | 617190 | Shashi-Pena syndrome | 617190 | C4310672 | OMIM | 1 | | 232 | 23805 | 612991 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | ATP6V0A2 CL E G H | 23545 | 278250 | Wrinkly skin syndrome | 278250 | C0406587 | OMIM | 1 | | 484 | 18481 | 611716 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | ATP6V0A2 CL E G H | 23545 | 278250 | Wrinkly skin syndrome | 278250 | C0406587 | OMIM | 1 | | 484 | 18481 | 611716 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | ATP6V0A2 CL E G H | 23545 | 278250 | Wrinkly skin syndrome | 278250 | C0406587 | OMIM | 1 | | 484 | 18481 | 611716 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | ATP7A CL E G H | 538 | 304150 | Cutis laxa, X-linked | 304150 | C0268353 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | ATP7A CL E G H | 538 | 304150 | Cutis laxa, X-linked | 304150 | C0268353 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | ATP7A CL E G H | 538 | 304150 | Cutis laxa, X-linked | 304150 | C0268353 | OMIM | 1 | | 1283 | 869 | 300011 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | AUTS2 CL E G H | 26053 | 615834 | Mental retardation, autosomal dominant 26 | 615834 | C4014435 | OMIM | 1 | | 511 | 14262 | 607270 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | AUTS2 CL E G H | 26053 | 615834 | Mental retardation, autosomal dominant 26 | 615834 | C4014435 | OMIM | 1 | | 511 | 14262 | 607270 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | AUTS2 CL E G H | 26053 | 615834 | Mental retardation, autosomal dominant 26 | 615834 | C4014435 | OMIM | 1 | | 511 | 14262 | 607270 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | B3GALT6 CL E G H | 126792 | 93359 | | | | ORPHA | 1 | | 366 | 17978 | 615291 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | B3GALT6 CL E G H | 126792 | 93359 | | | | ORPHA | 1 | | 366 | 17978 | 615291 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | B3GALT6 CL E G H | 126792 | 93359 | | | | ORPHA | 1 | | 366 | 17978 | 615291 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 196 | 961 | 605681 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 196 | 961 | 605681 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 196 | 961 | 605681 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | BGN CL E G H | 633 | 300106 | Spondyloepimetaphyseal dysplasia X-linked | 300106 | C1848097 | OMIM | 1 | | 394 | 1044 | 301870 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | BGN CL E G H | 633 | 300106 | Spondyloepimetaphyseal dysplasia X-linked | 300106 | C1848097 | OMIM | 1 | | 394 | 1044 | 301870 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | BGN CL E G H | 633 | 300106 | Spondyloepimetaphyseal dysplasia X-linked | 300106 | C1848097 | OMIM | 1 | | 394 | 1044 | 301870 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | BICD2 CL E G H | 23299 | 618291 | 618291 | 618291 | | OMIM | 1 | | 590 | 17208 | 609797 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | BICD2 CL E G H | 23299 | 618291 | 618291 | 618291 | | OMIM | 1 | | 590 | 17208 | 609797 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | BICD2 CL E G H | 23299 | 618291 | 618291 | 618291 | | OMIM | 1 | | 590 | 17208 | 609797 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 552 | 1052 | 601248 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 552 | 1052 | 601248 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 552 | 1052 | 601248 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | CANT1 CL E G H | 124583 | 251450 | Desbuquois dysplasia 1 | 251450 | C4012146 | OMIM | 1 | | 239 | 19721 | 613165 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | CANT1 CL E G H | 124583 | 251450 | Desbuquois dysplasia 1 | 251450 | C4012146 | OMIM | 1 | | 239 | 19721 | 613165 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | CANT1 CL E G H | 124583 | 251450 | Desbuquois dysplasia 1 | 251450 | C4012146 | OMIM | 1 | | 239 | 19721 | 613165 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | CBS CL E G H | 875 | 394 | | | | ORPHA | 1 | | 967 | 1550 | 613381 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | CBS CL E G H | 875 | 394 | | | | ORPHA | 1 | | 967 | 1550 | 613381 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | CBS CL E G H | 875 | 394 | | | | ORPHA | 1 | | 967 | 1550 | 613381 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | CCDC22 CL E G H | 28952 | 7 | Typical Joubert syndrome MRI findings | | CN228298 | ORPHA | 1 | | 252 | 28909 | 300859 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | CCDC22 CL E G H | 28952 | 7 | Typical Joubert syndrome MRI findings | | CN228298 | ORPHA | 1 | | 252 | 28909 | 300859 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | CCDC22 CL E G H | 28952 | 7 | Typical Joubert syndrome MRI findings | | CN228298 | ORPHA | 1 | | 252 | 28909 | 300859 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | CCN6 CL E G H | 8838 | 1159 | | | | ORPHA | 1 | | 122 | 12771 | 603400 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | CCN6 CL E G H | 8838 | 1159 | | | | ORPHA | 1 | | 122 | 12771 | 603400 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | CCN6 CL E G H | 8838 | 1159 | | | | ORPHA | 1 | | 122 | 12771 | 603400 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | CHRNG CL E G H | 1146 | 265000 | Multiple pterygium syndrome Escobar type | 265000 | C0265261 | OMIM | 1 | | 220 | 1967 | 100730 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | CHRNG CL E G H | 1146 | 265000 | Multiple pterygium syndrome Escobar type | 265000 | C0265261 | OMIM | 1 | | 220 | 1967 | 100730 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | CHRNG CL E G H | 1146 | 265000 | Multiple pterygium syndrome Escobar type | 265000 | C0265261 | OMIM | 1 | | 220 | 1967 | 100730 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | CLCF1 CL E G H | 23529 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 33 | 17412 | 607672 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | CLCF1 CL E G H | 23529 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 33 | 17412 | 607672 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | CLCF1 CL E G H | 23529 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 33 | 17412 | 607672 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | CLIP2 CL E G H | 7461 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 181 | 2586 | 603432 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | CLIP2 CL E G H | 7461 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 181 | 2586 | 603432 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | CLIP2 CL E G H | 7461 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 181 | 2586 | 603432 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | COL11A2 CL E G H | 1302 | 1427 | | | | ORPHA | 1 | | 1240 | 2187 | 120290 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | COL11A2 CL E G H | 1302 | 1427 | | | | ORPHA | 1 | | 1240 | 2187 | 120290 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | COL11A2 CL E G H | 1302 | 1427 | | | | ORPHA | 1 | | 1240 | 2187 | 120290 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | COL12A1 CL E G H | 1303 | 75840 | | | | ORPHA | 1 | | 1944 | 2188 | 120320 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | COL12A1 CL E G H | 1303 | 75840 | | | | ORPHA | 1 | | 1944 | 2188 | 120320 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | COL12A1 CL E G H | 1303 | 75840 | | | | ORPHA | 1 | | 1944 | 2188 | 120320 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | COL12A1 CL E G H | 1303 | 616471 | Bethlem myopathy 2 | 616471 | C4225313 | OMIM | 1 | | 1944 | 2188 | 120320 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | COL12A1 CL E G H | 1303 | 616471 | Bethlem myopathy 2 | 616471 | C4225313 | OMIM | 1 | | 1944 | 2188 | 120320 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | COL12A1 CL E G H | 1303 | 616471 | Bethlem myopathy 2 | 616471 | C4225313 | OMIM | 1 | | 1944 | 2188 | 120320 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | COL1A1 CL E G H | 1277 | 130060 | Ehlers-Danlos syndrome, procollagen proteinase deficient | 130060 | C0268345 | OMIM | 1 | | 2016 | 2197 | 120150 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | COL1A1 CL E G H | 1277 | 130060 | Ehlers-Danlos syndrome, procollagen proteinase deficient | 130060 | C0268345 | OMIM | 1 | | 2016 | 2197 | 120150 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | COL1A1 CL E G H | 1277 | 130060 | Ehlers-Danlos syndrome, procollagen proteinase deficient | 130060 | C0268345 | OMIM | 1 | | 2016 | 2197 | 120150 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | COL1A1 CL E G H | 1277 | 259420 | Osteogenesis imperfecta type III | 259420 | C0268362 | OMIM | 1 | | 2016 | 2197 | 120150 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | COL1A1 CL E G H | 1277 | 259420 | Osteogenesis imperfecta type III | 259420 | C0268362 | OMIM | 1 | | 2016 | 2197 | 120150 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | COL1A1 CL E G H | 1277 | 259420 | Osteogenesis imperfecta type III | 259420 | C0268362 | OMIM | 1 | | 2016 | 2197 | 120150 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | COL1A1 CL E G H | 1277 | 166220 | Osteogenesis imperfecta with normal sclerae, dominant form | 166220 | C0268363 | OMIM | 1 | | 2016 | 2197 | 120150 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | COL1A1 CL E G H | 1277 | 166220 | Osteogenesis imperfecta with normal sclerae, dominant form | 166220 | C0268363 | OMIM | 1 | | 2016 | 2197 | 120150 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | COL1A1 CL E G H | 1277 | 166220 | Osteogenesis imperfecta with normal sclerae, dominant form | 166220 | C0268363 | OMIM | 1 | | 2016 | 2197 | 120150 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | COL1A2 CL E G H | 1278 | 617821 | EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | 617821 | CN706304 | OMIM | 1 | | 1458 | 2198 | 120160 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | COL1A2 CL E G H | 1278 | 617821 | EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | 617821 | CN706304 | OMIM | 1 | | 1458 | 2198 | 120160 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | COL1A2 CL E G H | 1278 | 617821 | EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 | 617821 | CN706304 | OMIM | 1 | | 1458 | 2198 | 120160 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | COL1A2 CL E G H | 1278 | 259420 | Osteogenesis imperfecta type III | 259420 | C0268362 | OMIM | 1 | | 1458 | 2198 | 120160 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | COL1A2 CL E G H | 1278 | 259420 | Osteogenesis imperfecta type III | 259420 | C0268362 | OMIM | 1 | | 1458 | 2198 | 120160 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | COL1A2 CL E G H | 1278 | 259420 | Osteogenesis imperfecta type III | 259420 | C0268362 | OMIM | 1 | | 1458 | 2198 | 120160 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | COL1A2 CL E G H | 1278 | 166220 | Osteogenesis imperfecta with normal sclerae, dominant form | 166220 | C0268363 | OMIM | 1 | | 1458 | 2198 | 120160 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | COL1A2 CL E G H | 1278 | 166220 | Osteogenesis imperfecta with normal sclerae, dominant form | 166220 | C0268363 | OMIM | 1 | | 1458 | 2198 | 120160 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | COL1A2 CL E G H | 1278 | 166220 | Osteogenesis imperfecta with normal sclerae, dominant form | 166220 | C0268363 | OMIM | 1 | | 1458 | 2198 | 120160 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | COL2A1 CL E G H | 1280 | 93346 | | | | ORPHA | 1 | | 1820 | 2200 | 120140 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | COL2A1 CL E G H | 1280 | 485 | | | | ORPHA | 1 | | 1820 | 2200 | 120140 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | COL2A1 CL E G H | 1280 | 93346 | | | | ORPHA | 1 | | 1820 | 2200 | 120140 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | COL2A1 CL E G H | 1280 | 485 | | | | ORPHA | 1 | | 1820 | 2200 | 120140 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | COL2A1 CL E G H | 1280 | 93346 | | | | ORPHA | 1 | | 1820 | 2200 | 120140 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | COL2A1 CL E G H | 1280 | 485 | | | | ORPHA | 1 | | 1820 | 2200 | 120140 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | COL2A1 CL E G H | 1280 | 183900 | Spondyloepiphyseal dysplasia | 183900 | C0038015 | OMIM | 1 | | 1820 | 2200 | 120140 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | COL2A1 CL E G H | 1280 | 183900 | Spondyloepiphyseal dysplasia | 183900 | C0038015 | OMIM | 1 | | 1820 | 2200 | 120140 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | COL2A1 CL E G H | 1280 | 183900 | Spondyloepiphyseal dysplasia | 183900 | C0038015 | OMIM | 1 | | 1820 | 2200 | 120140 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | COL2A1 CL E G H | 1280 | 271700 | Spondyloperipheral dysplasia | 271700 | C0796173 | OMIM | 1 | | 1820 | 2200 | 120140 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | COL2A1 CL E G H | 1280 | 271700 | Spondyloperipheral dysplasia | 271700 | C0796173 | OMIM | 1 | | 1820 | 2200 | 120140 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | COL2A1 CL E G H | 1280 | 271700 | Spondyloperipheral dysplasia | 271700 | C0796173 | OMIM | 1 | | 1820 | 2200 | 120140 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | COL2A1 CL E G H | 1280 | 108300 | Stickler syndrome type 1 | 108300 | C2020284 | OMIM | 1 | | 1820 | 2200 | 120140 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | COL2A1 CL E G H | 1280 | 108300 | Stickler syndrome type 1 | 108300 | C2020284 | OMIM | 1 | | 1820 | 2200 | 120140 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | COL2A1 CL E G H | 1280 | 108300 | Stickler syndrome type 1 | 108300 | C2020284 | OMIM | 1 | | 1820 | 2200 | 120140 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | COL6A1 CL E G H | 1291 | 75840 | | | | ORPHA | 1 | | 1470 | 2211 | 120220 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | COL6A1 CL E G H | 1291 | 75840 | | | | ORPHA | 1 | | 1470 | 2211 | 120220 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | COL6A1 CL E G H | 1291 | 75840 | | | | ORPHA | 1 | | 1470 | 2211 | 120220 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | COL6A1 CL E G H | 1291 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 1470 | 2211 | 120220 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | COL6A1 CL E G H | 1291 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 1470 | 2211 | 120220 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | COL6A1 CL E G H | 1291 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 1470 | 2211 | 120220 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | COL6A2 CL E G H | 1292 | 75840 | | | | ORPHA | 1 | | 1644 | 2212 | 120240 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | COL6A2 CL E G H | 1292 | 75840 | | | | ORPHA | 1 | | 1644 | 2212 | 120240 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | COL6A2 CL E G H | 1292 | 75840 | | | | ORPHA | 1 | | 1644 | 2212 | 120240 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | COL6A2 CL E G H | 1292 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 1644 | 2212 | 120240 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | COL6A2 CL E G H | 1292 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 1644 | 2212 | 120240 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | COL6A2 CL E G H | 1292 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 1644 | 2212 | 120240 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | COL6A3 CL E G H | 1293 | 75840 | | | | ORPHA | 1 | | 2414 | 2213 | 120250 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | COL6A3 CL E G H | 1293 | 75840 | | | | ORPHA | 1 | | 2414 | 2213 | 120250 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | COL6A3 CL E G H | 1293 | 75840 | | | | ORPHA | 1 | | 2414 | 2213 | 120250 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | COL6A3 CL E G H | 1293 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 2414 | 2213 | 120250 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | COL6A3 CL E G H | 1293 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 2414 | 2213 | 120250 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | COL6A3 CL E G H | 1293 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 2414 | 2213 | 120250 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | COMP CL E G H | 1311 | 177170 | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 177170 | C0410538 | OMIM | 1 | | 426 | 2227 | 600310 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | COMP CL E G H | 1311 | 177170 | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 177170 | C0410538 | OMIM | 1 | | 426 | 2227 | 600310 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | COMP CL E G H | 1311 | 177170 | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | 177170 | C0410538 | OMIM | 1 | | 426 | 2227 | 600310 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | CPLX1 CL E G H | 10815 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 167 | 2309 | 605032 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | CPLX1 CL E G H | 10815 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 167 | 2309 | 605032 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | CPLX1 CL E G H | 10815 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 167 | 2309 | 605032 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | CRLF1 CL E G H | 9244 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 80 | 2364 | 604237 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | CRLF1 CL E G H | 9244 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 80 | 2364 | 604237 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | CRLF1 CL E G H | 9244 | 1545 | Corsello Opitz syndrome | | | ORPHA | 1 | | 80 | 2364 | 604237 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | CTBP1 CL E G H | 1487 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 217 | 2494 | 602618 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | CTBP1 CL E G H | 1487 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 217 | 2494 | 602618 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | CTBP1 CL E G H | 1487 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 217 | 2494 | 602618 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | CUL4B CL E G H | 8450 | 300354 | Syndromic X-linked mental retardation, Cabezas type | 300354 | C1845861 | OMIM | 1 | | 347 | 2555 | 300304 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | CUL4B CL E G H | 8450 | 300354 | Syndromic X-linked mental retardation, Cabezas type | 300354 | C1845861 | OMIM | 1 | | 347 | 2555 | 300304 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | CUL4B CL E G H | 8450 | 300354 | Syndromic X-linked mental retardation, Cabezas type | 300354 | C1845861 | OMIM | 1 | | 347 | 2555 | 300304 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | DLL3 CL E G H | 10683 | 2311 | Autosomal recessive spondylocostal dysostosis | | CN043670 | ORPHA | 1 | | 248 | 2909 | 602768 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | DLL3 CL E G H | 10683 | 2311 | Autosomal recessive spondylocostal dysostosis | | CN043670 | ORPHA | 1 | | 248 | 2909 | 602768 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | DLL3 CL E G H | 10683 | 2311 | Autosomal recessive spondylocostal dysostosis | | CN043670 | ORPHA | 1 | | 248 | 2909 | 602768 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | DYM CL E G H | 54808 | 239 | | | | ORPHA | 1 | | 260 | 21317 | 607461 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | DYM CL E G H | 54808 | 239 | | | | ORPHA | 1 | | 260 | 21317 | 607461 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | DYM CL E G H | 54808 | 239 | | | | ORPHA | 1 | | 260 | 21317 | 607461 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | DYM CL E G H | 54808 | 607326 | Smith-McCort dysplasia 1 | 607326 | C1846431 | OMIM | 1 | | 260 | 21317 | 607461 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | DYM CL E G H | 54808 | 607326 | Smith-McCort dysplasia 1 | 607326 | C1846431 | OMIM | 1 | | 260 | 21317 | 607461 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | DYM CL E G H | 54808 | 607326 | Smith-McCort dysplasia 1 | 607326 | C1846431 | OMIM | 1 | | 260 | 21317 | 607461 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | EBP CL E G H | 10682 | 35173 | | | | ORPHA | 1 | | 291 | 3133 | 300205 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | EBP CL E G H | 10682 | 35173 | | | | ORPHA | 1 | | 291 | 3133 | 300205 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | EBP CL E G H | 10682 | 35173 | | | | ORPHA | 1 | | 291 | 3133 | 300205 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | ELN CL E G H | 2006 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | ELN CL E G H | 2006 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | ELN CL E G H | 2006 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | ERCC6 CL E G H | 2074 | 133540 | Cockayne syndrome B | 133540 | C0751038 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | ERCC6 CL E G H | 2074 | 133540 | Cockayne syndrome B | 133540 | C0751038 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | ERCC6 CL E G H | 2074 | 133540 | Cockayne syndrome B | 133540 | C0751038 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | ERCC8 CL E G H | 1161 | 216400 | Cockayne syndrome type A | 216400 | C0751039 | OMIM | 1 | | 390 | 3439 | 609412 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | ERCC8 CL E G H | 1161 | 216400 | Cockayne syndrome type A | 216400 | C0751039 | OMIM | 1 | | 390 | 3439 | 609412 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | ERCC8 CL E G H | 1161 | 216400 | Cockayne syndrome type A | 216400 | C0751039 | OMIM | 1 | | 390 | 3439 | 609412 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | ERLIN2 CL E G H | 11160 | 209951 | | | | ORPHA | 1 | | 159 | 1356 | 611605 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | ERLIN2 CL E G H | 11160 | 209951 | | | | ORPHA | 1 | | 159 | 1356 | 611605 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | ERLIN2 CL E G H | 11160 | 209951 | | | | ORPHA | 1 | | 159 | 1356 | 611605 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | ERLIN2 CL E G H | 11160 | 611225 | Spastic paraplegia 18 | 611225 | C2749936 | OMIM | 1 | | 159 | 1356 | 611605 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | ERLIN2 CL E G H | 11160 | 611225 | Spastic paraplegia 18 | 611225 | C2749936 | OMIM | 1 | | 159 | 1356 | 611605 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | ERLIN2 CL E G H | 11160 | 611225 | Spastic paraplegia 18 | 611225 | C2749936 | OMIM | 1 | | 159 | 1356 | 611605 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | EZH2 CL E G H | 2146 | 277590 | Weaver syndrome | 277590 | C0265210 | OMIM | 1 | | 416 | 3527 | 601573 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | EZH2 CL E G H | 2146 | 277590 | Weaver syndrome | 277590 | C0265210 | OMIM | 1 | | 416 | 3527 | 601573 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | EZH2 CL E G H | 2146 | 277590 | Weaver syndrome | 277590 | C0265210 | OMIM | 1 | | 416 | 3527 | 601573 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | FGFR3 CL E G H | 2261 | 1860 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | FGFR3 CL E G H | 2261 | 1860 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | FGFR3 CL E G H | 2261 | 1860 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | FGFR3 CL E G H | 2261 | 15 | Antisocial personality disorder | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | FGFR3 CL E G H | 2261 | 15 | Antisocial personality disorder | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | FGFR3 CL E G H | 2261 | 15 | Antisocial personality disorder | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | FGFR3 CL E G H | 2261 | 616482 | Severe achondroplasia with developmental delay and acanthosis nigricans | 616482 | C2674173 | OMIM | 1 | | 746 | 3690 | 134934 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | FGFR3 CL E G H | 2261 | 616482 | Severe achondroplasia with developmental delay and acanthosis nigricans | 616482 | C2674173 | OMIM | 1 | | 746 | 3690 | 134934 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | FGFR3 CL E G H | 2261 | 616482 | Severe achondroplasia with developmental delay and acanthosis nigricans | 616482 | C2674173 | OMIM | 1 | | 746 | 3690 | 134934 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | FGFRL1 CL E G H | 53834 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 288 | 3693 | 605830 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | FGFRL1 CL E G H | 53834 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 288 | 3693 | 605830 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | FGFRL1 CL E G H | 53834 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 288 | 3693 | 605830 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | FHL1 CL E G H | 2273 | 300718 | Myopathy, reducing body, X-linked, childhood-onset | 300718 | C2678015 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | FHL1 CL E G H | 2273 | 300718 | Myopathy, reducing body, X-linked, childhood-onset | 300718 | C2678015 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | FHL1 CL E G H | 2273 | 300718 | Myopathy, reducing body, X-linked, childhood-onset | 300718 | C2678015 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | FHL1 CL E G H | 2273 | 300280 | Uruguay faciocardiomusculoskeletal syndrome | 300280 | C1846010 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | FHL1 CL E G H | 2273 | 300280 | Uruguay faciocardiomusculoskeletal syndrome | 300280 | C1846010 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | FHL1 CL E G H | 2273 | 300280 | Uruguay faciocardiomusculoskeletal syndrome | 300280 | C1846010 | OMIM | 1 | | 517 | 3702 | 300163 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | FKBP10 CL E G H | 60681 | 259450 | Bruck syndrome 1 | 259450 | C1850168 | OMIM | 1 | | 292 | 18169 | 607063 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | FKBP10 CL E G H | 60681 | 259450 | Bruck syndrome 1 | 259450 | C1850168 | OMIM | 1 | | 292 | 18169 | 607063 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | FKBP10 CL E G H | 60681 | 259450 | Bruck syndrome 1 | 259450 | C1850168 | OMIM | 1 | | 292 | 18169 | 607063 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | FKBP10 CL E G H | 60681 | 2771 | Hydrocephalus costovertebral dysplasia Sprengel anomaly | | | ORPHA | 1 | | 292 | 18169 | 607063 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | FKBP10 CL E G H | 60681 | 2771 | Hydrocephalus costovertebral dysplasia Sprengel anomaly | | | ORPHA | 1 | | 292 | 18169 | 607063 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | FKBP10 CL E G H | 60681 | 2771 | Hydrocephalus costovertebral dysplasia Sprengel anomaly | | | ORPHA | 1 | | 292 | 18169 | 607063 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | FKRP CL E G H | 79147 | 606612 | Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 | 606612 | C1847759 | OMIM | 1 | | 787 | 17997 | 606596 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | FKRP CL E G H | 79147 | 606612 | Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 | 606612 | C1847759 | OMIM | 1 | | 787 | 17997 | 606596 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | FKRP CL E G H | 79147 | 606612 | Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 | 606612 | C1847759 | OMIM | 1 | | 787 | 17997 | 606596 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | FKRP CL E G H | 79147 | 607155 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 | 607155 | C1846672 | OMIM | 1 | | 787 | 17997 | 606596 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | FKRP CL E G H | 79147 | 607155 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 | 607155 | C1846672 | OMIM | 1 | | 787 | 17997 | 606596 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | FKRP CL E G H | 79147 | 607155 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 | 607155 | C1846672 | OMIM | 1 | | 787 | 17997 | 606596 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | FOXG1 CL E G H | 2290 | 261144 | | | | ORPHA | 1 | | 614 | 3811 | 164874 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | FOXG1 CL E G H | 2290 | 261144 | | | | ORPHA | 1 | | 614 | 3811 | 164874 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | FOXG1 CL E G H | 2290 | 261144 | | | | ORPHA | 1 | | 614 | 3811 | 164874 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | FOXG1 CL E G H | 2290 | 613454 | Rett syndrome, congenital variant | 613454 | C3150705 | OMIM | 1 | | 614 | 3811 | 164874 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | FOXG1 CL E G H | 2290 | 613454 | Rett syndrome, congenital variant | 613454 | C3150705 | OMIM | 1 | | 614 | 3811 | 164874 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | FOXG1 CL E G H | 2290 | 613454 | Rett syndrome, congenital variant | 613454 | C3150705 | OMIM | 1 | | 614 | 3811 | 164874 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | FUCA1 CL E G H | 2517 | 349 | Neuroaxonal dystrophy renal tubular acidosis | | | ORPHA | 1 | | 222 | 4006 | 612280 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | FUCA1 CL E G H | 2517 | 349 | Neuroaxonal dystrophy renal tubular acidosis | | | ORPHA | 1 | | 222 | 4006 | 612280 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | FUCA1 CL E G H | 2517 | 349 | Neuroaxonal dystrophy renal tubular acidosis | | | ORPHA | 1 | | 222 | 4006 | 612280 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | GALNS CL E G H | 2588 | 253000 | Mucopolysaccharidosis, MPS-IV-A | 253000 | C0086651 | OMIM | 1 | | 944 | 4122 | 612222 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | GALNS CL E G H | 2588 | 253000 | Mucopolysaccharidosis, MPS-IV-A | 253000 | C0086651 | OMIM | 1 | | 944 | 4122 | 612222 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | GALNS CL E G H | 2588 | 253000 | Mucopolysaccharidosis, MPS-IV-A | 253000 | C0086651 | OMIM | 1 | | 944 | 4122 | 612222 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | GBA CL E G H | 2629 | 77259 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | GBA CL E G H | 2629 | 77259 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | GBA CL E G H | 2629 | 77259 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | GLB1 CL E G H | 2720 | 230650 | Gangliosidosis GM1 type 3 | 230650 | C0268273 | OMIM | 1 | | 696 | 4298 | 611458 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | GLB1 CL E G H | 2720 | 230650 | Gangliosidosis GM1 type 3 | 230650 | C0268273 | OMIM | 1 | | 696 | 4298 | 611458 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | GLB1 CL E G H | 2720 | 230650 | Gangliosidosis GM1 type 3 | 230650 | C0268273 | OMIM | 1 | | 696 | 4298 | 611458 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | GLB1 CL E G H | 2720 | 230500 | Infantile GM1 gangliosidosis | 230500 | C0268271 | OMIM | 1 | | 696 | 4298 | 611458 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | GLB1 CL E G H | 2720 | 230500 | Infantile GM1 gangliosidosis | 230500 | C0268271 | OMIM | 1 | | 696 | 4298 | 611458 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | GLB1 CL E G H | 2720 | 230500 | Infantile GM1 gangliosidosis | 230500 | C0268271 | OMIM | 1 | | 696 | 4298 | 611458 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | GLB1 CL E G H | 2720 | 253010 | Mucopolysaccharidosis, MPS-IV-B | 253010 | C0086652 | OMIM | 1 | | 696 | 4298 | 611458 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | GLB1 CL E G H | 2720 | 253010 | Mucopolysaccharidosis, MPS-IV-B | 253010 | C0086652 | OMIM | 1 | | 696 | 4298 | 611458 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | GLB1 CL E G H | 2720 | 253010 | Mucopolysaccharidosis, MPS-IV-B | 253010 | C0086652 | OMIM | 1 | | 696 | 4298 | 611458 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | GNAS CL E G H | 2778 | 219080 | Cushing's syndrome | 219080 | C1857451 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | GNAS CL E G H | 2778 | 219080 | Cushing's syndrome | 219080 | C1857451 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | GNAS CL E G H | 2778 | 219080 | Cushing's syndrome | 219080 | C1857451 | OMIM | 1 | | 445 | 4392 | 139320 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | GNPTG CL E G H | 84572 | 252605 | Mucolipidosis III Gamma | 252605 | C1854896 | OMIM | 1 | | 603 | 23026 | 607838 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | GNPTG CL E G H | 84572 | 252605 | Mucolipidosis III Gamma | 252605 | C1854896 | OMIM | 1 | | 603 | 23026 | 607838 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | GNPTG CL E G H | 84572 | 252605 | Mucolipidosis III Gamma | 252605 | C1854896 | OMIM | 1 | | 603 | 23026 | 607838 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | GPR101 CL E G H | 83550 | 963 | | | | ORPHA | 1 | | 194 | 14963 | 300393 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | GPR101 CL E G H | 83550 | 963 | | | | ORPHA | 1 | | 194 | 14963 | 300393 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | GPR101 CL E G H | 83550 | 963 | | | | ORPHA | 1 | | 194 | 14963 | 300393 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | GTF2I CL E G H | 2969 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 163 | 4659 | 601679 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | GTF2I CL E G H | 2969 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 163 | 4659 | 601679 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | GTF2I CL E G H | 2969 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 163 | 4659 | 601679 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | GTF2IRD1 CL E G H | 9569 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 218 | 4661 | 604318 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | GTF2IRD1 CL E G H | 9569 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 218 | 4661 | 604318 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | GTF2IRD1 CL E G H | 9569 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 218 | 4661 | 604318 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 79 | 4670 | 607434 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 79 | 4670 | 607434 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 79 | 4670 | 607434 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | HACE1 CL E G H | 57531 | 464282 | | | | ORPHA | 1 | | 107 | 21033 | 610876 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | HACE1 CL E G H | 57531 | 464282 | | | | ORPHA | 1 | | 107 | 21033 | 610876 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | HACE1 CL E G H | 57531 | 464282 | | | | ORPHA | 1 | | 107 | 21033 | 610876 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | HERC1 CL E G H | 8925 | 617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | 617011 | C4310766 | OMIM | 1 | | 618 | 4867 | 605109 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | HERC1 CL E G H | 8925 | 617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | 617011 | C4310766 | OMIM | 1 | | 618 | 4867 | 605109 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | HERC1 CL E G H | 8925 | 617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | 617011 | C4310766 | OMIM | 1 | | 618 | 4867 | 605109 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | HERC2 CL E G H | 8924 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 641 | 4868 | 605837 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | HERC2 CL E G H | 8924 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 641 | 4868 | 605837 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | HERC2 CL E G H | 8924 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 641 | 4868 | 605837 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | HES7 CL E G H | 84667 | 2311 | Autosomal recessive spondylocostal dysostosis | | CN043670 | ORPHA | 1 | | 96 | 15977 | 608059 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | HES7 CL E G H | 84667 | 2311 | Autosomal recessive spondylocostal dysostosis | | CN043670 | ORPHA | 1 | | 96 | 15977 | 608059 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | HES7 CL E G H | 84667 | 2311 | Autosomal recessive spondylocostal dysostosis | | CN043670 | ORPHA | 1 | | 96 | 15977 | 608059 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | HGD CL E G H | 3081 | 203500 | Alkaptonuria | 203500 | C0002066 | OMIM | 1 | | 272 | 4892 | 607474 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | HGD CL E G H | 3081 | 203500 | Alkaptonuria | 203500 | C0002066 | OMIM | 1 | | 272 | 4892 | 607474 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | HGD CL E G H | 3081 | 203500 | Alkaptonuria | 203500 | C0002066 | OMIM | 1 | | 272 | 4892 | 607474 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | HSPG2 CL E G H | 3339 | 800 | | | | ORPHA | 1 | | 1830 | 5273 | 142461 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | HTT CL E G H | 3064 | 617435 | Lopes-Maciel-Rodan syndrome | 617435 | C4479491 | OMIM | 1 | | 735 | 4851 | 613004 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | HTT CL E G H | 3064 | 617435 | Lopes-Maciel-Rodan syndrome | 617435 | C4479491 | OMIM | 1 | | 735 | 4851 | 613004 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | HTT CL E G H | 3064 | 617435 | Lopes-Maciel-Rodan syndrome | 617435 | C4479491 | OMIM | 1 | | 735 | 4851 | 613004 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | IDS CL E G H | 3423 | 309900 | Mucopolysaccharidosis, MPS-II | 309900 | C0026705 | OMIM | 1 | | 768 | 5389 | 300823 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | IDS CL E G H | 3423 | 309900 | Mucopolysaccharidosis, MPS-II | 309900 | C0026705 | OMIM | 1 | | 768 | 5389 | 300823 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | IDS CL E G H | 3423 | 309900 | Mucopolysaccharidosis, MPS-II | 309900 | C0026705 | OMIM | 1 | | 768 | 5389 | 300823 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | IDUA CL E G H | 3425 | 607014 | Dysostosis multiplex | 607014 | C0086795 | OMIM | 1 | | 1313 | 5391 | 252800 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | IDUA CL E G H | 3425 | 607014 | Dysostosis multiplex | 607014 | C0086795 | OMIM | 1 | | 1313 | 5391 | 252800 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | IDUA CL E G H | 3425 | 607014 | Dysostosis multiplex | 607014 | C0086795 | OMIM | 1 | | 1313 | 5391 | 252800 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | IDUA CL E G H | 3425 | 607015 | Mucopolysaccharidosis, MPS-I-H/S | 607015 | C0086431 | OMIM | 1 | | 1313 | 5391 | 252800 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | IDUA CL E G H | 3425 | 607015 | Mucopolysaccharidosis, MPS-I-H/S | 607015 | C0086431 | OMIM | 1 | | 1313 | 5391 | 252800 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | IDUA CL E G H | 3425 | 607015 | Mucopolysaccharidosis, MPS-I-H/S | 607015 | C0086431 | OMIM | 1 | | 1313 | 5391 | 252800 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | IPW CL E G H | 3653 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 294 | 6109 | 601491 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | IPW CL E G H | 3653 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 294 | 6109 | 601491 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | IPW CL E G H | 3653 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 294 | 6109 | 601491 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | KANSL1 CL E G H | 284058 | 610443 | Koolen-de Vries syndrome | 610443 | C1864871 | OMIM | 1 | | 1218 | 24565 | 612452 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | KANSL1 CL E G H | 284058 | 610443 | Koolen-de Vries syndrome | 610443 | C1864871 | OMIM | 1 | | 1218 | 24565 | 612452 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | KANSL1 CL E G H | 284058 | 610443 | Koolen-de Vries syndrome | 610443 | C1864871 | OMIM | 1 | | 1218 | 24565 | 612452 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | KIF22 CL E G H | 3835 | 93360 | | | | ORPHA | 1 | | 411 | 6391 | 603213 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | KIF22 CL E G H | 3835 | 93360 | | | | ORPHA | 1 | | 411 | 6391 | 603213 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | KIF22 CL E G H | 3835 | 93360 | | | | ORPHA | 1 | | 411 | 6391 | 603213 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | KLC2 CL E G H | 64837 | 609541 | Spastic paraplegia, optic atrophy, and neuropathy | 609541 | C1836010 | OMIM | 1 | | 61 | 20716 | 611729 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | KLC2 CL E G H | 64837 | 609541 | Spastic paraplegia, optic atrophy, and neuropathy | 609541 | C1836010 | OMIM | 1 | | 61 | 20716 | 611729 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | KLC2 CL E G H | 64837 | 609541 | Spastic paraplegia, optic atrophy, and neuropathy | 609541 | C1836010 | OMIM | 1 | | 61 | 20716 | 611729 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | KMT2C CL E G H | 58508 | 617768 | KLEEFSTRA SYNDROME 2 | 617768 | C4540395 | OMIM | 1 | | 851 | 13726 | 606833 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | KMT2C CL E G H | 58508 | 617768 | KLEEFSTRA SYNDROME 2 | 617768 | C4540395 | OMIM | 1 | | 851 | 13726 | 606833 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | KMT2C CL E G H | 58508 | 617768 | KLEEFSTRA SYNDROME 2 | 617768 | C4540395 | OMIM | 1 | | 851 | 13726 | 606833 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | KY CL E G H | 339855 | 617114 | Myopathy, myofibrillar, 7 | 617114 | C4310711 | OMIM | 1 | | 87 | 26576 | 605739 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | KY CL E G H | 339855 | 617114 | Myopathy, myofibrillar, 7 | 617114 | C4310711 | OMIM | 1 | | 87 | 26576 | 605739 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | KY CL E G H | 339855 | 617114 | Myopathy, myofibrillar, 7 | 617114 | C4310711 | OMIM | 1 | | 87 | 26576 | 605739 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | L1CAM CL E G H | 3897 | 303350 | Spastic paraplegia 1 | 303350 | C0795953 | OMIM | 1 | | 794 | 6470 | 308840 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | L1CAM CL E G H | 3897 | 303350 | Spastic paraplegia 1 | 303350 | C0795953 | OMIM | 1 | | 794 | 6470 | 308840 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | L1CAM CL E G H | 3897 | 303350 | Spastic paraplegia 1 | 303350 | C0795953 | OMIM | 1 | | 794 | 6470 | 308840 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | LAS1L CL E G H | 81887 | 309585 | Wilson-Turner X-linked mental retardation syndrome | 309585 | C1839736 | OMIM | 1 | | 243 | 25726 | 300964 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | LAS1L CL E G H | 81887 | 309585 | Wilson-Turner X-linked mental retardation syndrome | 309585 | C1839736 | OMIM | 1 | | 243 | 25726 | 300964 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | LAS1L CL E G H | 81887 | 309585 | Wilson-Turner X-linked mental retardation syndrome | 309585 | C1839736 | OMIM | 1 | | 243 | 25726 | 300964 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | LETM1 CL E G H | 3954 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 263 | 6556 | 604407 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | LETM1 CL E G H | 3954 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 263 | 6556 | 604407 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | LETM1 CL E G H | 3954 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 263 | 6556 | 604407 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | LETM1 CL E G H | 3954 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 263 | 6556 | 604407 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | LETM1 CL E G H | 3954 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 263 | 6556 | 604407 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | LETM1 CL E G H | 3954 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 263 | 6556 | 604407 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | LFNG CL E G H | 3955 | 2311 | Autosomal recessive spondylocostal dysostosis | | CN043670 | ORPHA | 1 | | 219 | 6560 | 602576 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | LFNG CL E G H | 3955 | 2311 | Autosomal recessive spondylocostal dysostosis | | CN043670 | ORPHA | 1 | | 219 | 6560 | 602576 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | LFNG CL E G H | 3955 | 2311 | Autosomal recessive spondylocostal dysostosis | | CN043670 | ORPHA | 1 | | 219 | 6560 | 602576 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | LIMK1 CL E G H | 3984 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 201 | 6613 | 601329 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | LIMK1 CL E G H | 3984 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 201 | 6613 | 601329 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | LIMK1 CL E G H | 3984 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 201 | 6613 | 601329 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | LMNA CL E G H | 4000 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | LMNA CL E G H | 4000 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | LMNA CL E G H | 4000 | 740 | Aortic arch interruption | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | MAGEL2 CL E G H | 54551 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 620 | 6814 | 605283 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | MAGEL2 CL E G H | 54551 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 620 | 6814 | 605283 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | MAGEL2 CL E G H | 54551 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 620 | 6814 | 605283 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | MAGEL2 CL E G H | 54551 | 615547 | Schaaf-yang syndrome | 615547 | C3809877 | OMIM | 1 | | 620 | 6814 | 605283 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | MAGEL2 CL E G H | 54551 | 615547 | Schaaf-yang syndrome | 615547 | C3809877 | OMIM | 1 | | 620 | 6814 | 605283 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | MAGEL2 CL E G H | 54551 | 615547 | Schaaf-yang syndrome | 615547 | C3809877 | OMIM | 1 | | 620 | 6814 | 605283 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | MECP2 CL E G H | 4204 | 312750 | Rett syndrome | 312750 | C0035372 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | MECP2 CL E G H | 4204 | 312750 | Rett syndrome | 312750 | C0035372 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | MECP2 CL E G H | 4204 | 312750 | Rett syndrome | 312750 | C0035372 | OMIM | 1 | | 1778 | 6990 | 300005 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | MESP2 CL E G H | 145873 | 2311 | Autosomal recessive spondylocostal dysostosis | | CN043670 | ORPHA | 1 | | 337 | 29659 | 605195 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | MESP2 CL E G H | 145873 | 2311 | Autosomal recessive spondylocostal dysostosis | | CN043670 | ORPHA | 1 | | 337 | 29659 | 605195 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | MESP2 CL E G H | 145873 | 2311 | Autosomal recessive spondylocostal dysostosis | | CN043670 | ORPHA | 1 | | 337 | 29659 | 605195 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | MFN2 CL E G H | 9927 | 617087 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | 617087 | C4310725 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | MFN2 CL E G H | 9927 | 617087 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | 617087 | C4310725 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | MFN2 CL E G H | 9927 | 617087 | Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | 617087 | C4310725 | OMIM | 1 | | 1063 | 16877 | 608507 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | MGME1 CL E G H | 92667 | 352447 | | | | ORPHA | 1 | | 78 | 16205 | 615076 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | MGME1 CL E G H | 92667 | 352447 | | | | ORPHA | 1 | | 78 | 16205 | 615076 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | MGME1 CL E G H | 92667 | 352447 | | | | ORPHA | 1 | | 78 | 16205 | 615076 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | MGME1 CL E G H | 92667 | 615084 | Mitochondrial DNA depletion syndrome 11 | 615084 | C3554462 | OMIM | 1 | | 78 | 16205 | 615076 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | MGME1 CL E G H | 92667 | 615084 | Mitochondrial DNA depletion syndrome 11 | 615084 | C3554462 | OMIM | 1 | | 78 | 16205 | 615076 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | MGME1 CL E G H | 92667 | 615084 | Mitochondrial DNA depletion syndrome 11 | 615084 | C3554462 | OMIM | 1 | | 78 | 16205 | 615076 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | MKRN3 CL E G H | 7681 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 322 | 7114 | 603856 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | MKRN3 CL E G H | 7681 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 322 | 7114 | 603856 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | MKRN3 CL E G H | 7681 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 322 | 7114 | 603856 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | MKRN3-AS1 CL E G H | 10108 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | | 12910 | 603857 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | MKRN3-AS1 CL E G H | 10108 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | | 12910 | 603857 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | MKRN3-AS1 CL E G H | 10108 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | | 12910 | 603857 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | NDN CL E G H | 4692 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 303 | 7675 | 602117 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | NDN CL E G H | 4692 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 303 | 7675 | 602117 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | NDN CL E G H | 4692 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 303 | 7675 | 602117 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | NDUFAF1 CL E G H | 51103 | 618234 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | 618234 | | OMIM | 1 | | 108 | 18828 | 606934 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | NDUFAF1 CL E G H | 51103 | 618234 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | 618234 | | OMIM | 1 | | 108 | 18828 | 606934 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | NDUFAF1 CL E G H | 51103 | 618234 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11 | 618234 | | OMIM | 1 | | 108 | 18828 | 606934 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | NELFA CL E G H | 7469 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 174 | 12768 | 606026 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | NELFA CL E G H | 7469 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 174 | 12768 | 606026 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | NELFA CL E G H | 7469 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 174 | 12768 | 606026 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | NONO CL E G H | 4841 | 300967 | Mental retardation, X-linked, syndromic 34 | 300967 | C4225417 | OMIM | 1 | | 204 | 7871 | 300084 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | NONO CL E G H | 4841 | 300967 | Mental retardation, X-linked, syndromic 34 | 300967 | C4225417 | OMIM | 1 | | 204 | 7871 | 300084 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | NONO CL E G H | 4841 | 300967 | Mental retardation, X-linked, syndromic 34 | 300967 | C4225417 | OMIM | 1 | | 204 | 7871 | 300084 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | NOTCH3 CL E G H | 4854 | 130720 | Lehman syndrome | 130720 | C1851710 | OMIM | 1 | | 1133 | 7883 | 600276 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | NOTCH3 CL E G H | 4854 | 130720 | Lehman syndrome | 130720 | C1851710 | OMIM | 1 | | 1133 | 7883 | 600276 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | NOTCH3 CL E G H | 4854 | 130720 | Lehman syndrome | 130720 | C1851710 | OMIM | 1 | | 1133 | 7883 | 600276 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | NPAP1 CL E G H | 23742 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 327 | 1190 | 610922 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | NPAP1 CL E G H | 23742 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 327 | 1190 | 610922 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | NPAP1 CL E G H | 23742 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 327 | 1190 | 610922 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | NPR2 CL E G H | 4882 | 40 | | | | ORPHA | 1 | | 393 | 7944 | 108961 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | NPR2 CL E G H | 4882 | 40 | | | | ORPHA | 1 | | 393 | 7944 | 108961 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | NPR2 CL E G H | 4882 | 40 | | | | ORPHA | 1 | | 393 | 7944 | 108961 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | NSD2 CL E G H | 7468 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 363 | 12766 | 602952 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | NSD2 CL E G H | 7468 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 363 | 12766 | 602952 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | NSD2 CL E G H | 7468 | 194190 | 4p partial monosomy syndrome | 194190 | C1956097 | OMIM | 1 | | 363 | 12766 | 602952 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | NSD2 CL E G H | 7468 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 363 | 12766 | 602952 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | NSD2 CL E G H | 7468 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 363 | 12766 | 602952 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | NSD2 CL E G H | 7468 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 363 | 12766 | 602952 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | NSDHL CL E G H | 50814 | 300831 | NSDHL-Related Disorders | 300831 | C3151781 | OMIM | 1 | | 312 | 13398 | 300275 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | NSDHL CL E G H | 50814 | 300831 | NSDHL-Related Disorders | 300831 | C3151781 | OMIM | 1 | | 312 | 13398 | 300275 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | NSDHL CL E G H | 50814 | 300831 | NSDHL-Related Disorders | 300831 | C3151781 | OMIM | 1 | | 312 | 13398 | 300275 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | NXN CL E G H | 64359 | 1507 | Congenital unilateral pulmonary hypoplasia | | | ORPHA | 1 | | 235 | 18008 | 612895 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | NXN CL E G H | 64359 | 1507 | Congenital unilateral pulmonary hypoplasia | | | ORPHA | 1 | | 235 | 18008 | 612895 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | NXN CL E G H | 64359 | 1507 | Congenital unilateral pulmonary hypoplasia | | | ORPHA | 1 | | 235 | 18008 | 612895 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | OCRL CL E G H | 4952 | 309000 | Lowe syndrome | 309000 | C0028860 | OMIM | 1 | | 508 | 8108 | 300535 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | OCRL CL E G H | 4952 | 309000 | Lowe syndrome | 309000 | C0028860 | OMIM | 1 | | 508 | 8108 | 300535 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | OCRL CL E G H | 4952 | 309000 | Lowe syndrome | 309000 | C0028860 | OMIM | 1 | | 508 | 8108 | 300535 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | P3H1 CL E G H | 64175 | 610915 | Osteogenesis imperfecta type 8 | 610915 | C1970458 | OMIM | 1 | | 496 | 19316 | 610339 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | P3H1 CL E G H | 64175 | 610915 | Osteogenesis imperfecta type 8 | 610915 | C1970458 | OMIM | 1 | | 496 | 19316 | 610339 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | P3H1 CL E G H | 64175 | 610915 | Osteogenesis imperfecta type 8 | 610915 | C1970458 | OMIM | 1 | | 496 | 19316 | 610339 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | P4HB CL E G H | 5034 | 2050 | Ectodermal dysplasia Margarita type | | | ORPHA | 1 | | 167 | 8548 | 176790 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | P4HB CL E G H | 5034 | 2050 | Ectodermal dysplasia Margarita type | | | ORPHA | 1 | | 167 | 8548 | 176790 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | P4HB CL E G H | 5034 | 2050 | Ectodermal dysplasia Margarita type | | | ORPHA | 1 | | 167 | 8548 | 176790 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | PDE11A CL E G H | 50940 | 610475 | Pigmented nodular adrenocortical disease, primary, 2 | 610475 | C1864851 | OMIM | 1 | | 150 | 8773 | 604961 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | PDE11A CL E G H | 50940 | 610475 | Pigmented nodular adrenocortical disease, primary, 2 | 610475 | C1864851 | OMIM | 1 | | 150 | 8773 | 604961 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | PDE11A CL E G H | 50940 | 610475 | Pigmented nodular adrenocortical disease, primary, 2 | 610475 | C1864851 | OMIM | 1 | | 150 | 8773 | 604961 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | PHF6 CL E G H | 84295 | 301900 | Borjeson-Forssman-Lehmann syndrome | 301900 | C0265339 | OMIM | 1 | | 285 | 18145 | 300414 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | PHF6 CL E G H | 84295 | 301900 | Borjeson-Forssman-Lehmann syndrome | 301900 | C0265339 | OMIM | 1 | | 285 | 18145 | 300414 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | PHF6 CL E G H | 84295 | 301900 | Borjeson-Forssman-Lehmann syndrome | 301900 | C0265339 | OMIM | 1 | | 285 | 18145 | 300414 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | PIEZO2 CL E G H | 63895 | 2461 | | | | ORPHA | 1 | | 755 | 26270 | 613629 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | PIEZO2 CL E G H | 63895 | 2461 | | | | ORPHA | 1 | | 755 | 26270 | 613629 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | PIEZO2 CL E G H | 63895 | 2461 | | | | ORPHA | 1 | | 755 | 26270 | 613629 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | PIEZO2 CL E G H | 63895 | 248700 | Marden-Walker syndrome | 248700 | C0796033 | OMIM | 1 | | 755 | 26270 | 613629 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | PIEZO2 CL E G H | 63895 | 248700 | Marden-Walker syndrome | 248700 | C0796033 | OMIM | 1 | | 755 | 26270 | 613629 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | PIEZO2 CL E G H | 63895 | 248700 | Marden-Walker syndrome | 248700 | C0796033 | OMIM | 1 | | 755 | 26270 | 613629 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | PIK3CA CL E G H | 5290 | 615108 | Cowden syndrome 5 | 615108 | C3554518 | OMIM | 1 | | 975 | 8975 | 171834 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | PIK3CA CL E G H | 5290 | 615108 | Cowden syndrome 5 | 615108 | C3554518 | OMIM | 1 | | 975 | 8975 | 171834 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | PIK3CA CL E G H | 5290 | 615108 | Cowden syndrome 5 | 615108 | C3554518 | OMIM | 1 | | 975 | 8975 | 171834 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | PIK3R2 CL E G H | 5296 | 603387 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 603387 | C1863924 | OMIM | 1 | | 232 | 8980 | 603157 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | PIK3R2 CL E G H | 5296 | 603387 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 603387 | C1863924 | OMIM | 1 | | 232 | 8980 | 603157 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | PIK3R2 CL E G H | 5296 | 603387 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 603387 | C1863924 | OMIM | 1 | | 232 | 8980 | 603157 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | PLAA CL E G H | 9373 | 521426 | | | | ORPHA | 1 | | 338 | 9043 | 603873 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | PLAA CL E G H | 9373 | 521426 | | | | ORPHA | 1 | | 338 | 9043 | 603873 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | PLAA CL E G H | 9373 | 521426 | | | | ORPHA | 1 | | 338 | 9043 | 603873 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | PLOD1 CL E G H | 5351 | 1900 | | | | ORPHA | 1 | | 794 | 9081 | 153454 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | PLOD1 CL E G H | 5351 | 1900 | | | | ORPHA | 1 | | 794 | 9081 | 153454 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | PLOD1 CL E G H | 5351 | 1900 | | | | ORPHA | 1 | | 794 | 9081 | 153454 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | PLOD1 CL E G H | 5351 | 225400 | Ehlers-Danlos syndrome, hydroxylysine-deficient | 225400 | C0268342 | OMIM | 1 | | 794 | 9081 | 153454 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | PLOD1 CL E G H | 5351 | 225400 | Ehlers-Danlos syndrome, hydroxylysine-deficient | 225400 | C0268342 | OMIM | 1 | | 794 | 9081 | 153454 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | PLOD1 CL E G H | 5351 | 225400 | Ehlers-Danlos syndrome, hydroxylysine-deficient | 225400 | C0268342 | OMIM | 1 | | 794 | 9081 | 153454 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | PLOD2 CL E G H | 5352 | 2771 | Hydrocephalus costovertebral dysplasia Sprengel anomaly | | | ORPHA | 1 | | 305 | 9082 | 601865 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | PLOD2 CL E G H | 5352 | 2771 | Hydrocephalus costovertebral dysplasia Sprengel anomaly | | | ORPHA | 1 | | 305 | 9082 | 601865 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | PLOD2 CL E G H | 5352 | 2771 | Hydrocephalus costovertebral dysplasia Sprengel anomaly | | | ORPHA | 1 | | 305 | 9082 | 601865 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | PMM2 CL E G H | 5373 | 212065 | Carbohydrate-deficient glycoprotein syndrome type I | 212065 | C0349653 | OMIM | 1 | | 609 | 9115 | 601785 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | PMM2 CL E G H | 5373 | 212065 | Carbohydrate-deficient glycoprotein syndrome type I | 212065 | C0349653 | OMIM | 1 | | 609 | 9115 | 601785 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | PMM2 CL E G H | 5373 | 212065 | Carbohydrate-deficient glycoprotein syndrome type I | 212065 | C0349653 | OMIM | 1 | | 609 | 9115 | 601785 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 3858 | 9175 | 174761 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 3858 | 9175 | 174761 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | POLD1 CL E G H | 5424 | 615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | 615381 | C3715192 | OMIM | 1 | | 3858 | 9175 | 174761 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | PPIB CL E G H | 5479 | 259440 | Osteogenesis imperfecta type 9 | 259440 | C1850169 | OMIM | 1 | | 121 | 9255 | 123841 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | PPIB CL E G H | 5479 | 259440 | Osteogenesis imperfecta type 9 | 259440 | C1850169 | OMIM | 1 | | 121 | 9255 | 123841 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | PPIB CL E G H | 5479 | 259440 | Osteogenesis imperfecta type 9 | 259440 | C1850169 | OMIM | 1 | | 121 | 9255 | 123841 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | PRKAR1A CL E G H | 5573 | 610489 | Pigmented nodular adrenocortical disease, primary, 1 | 610489 | C1864846 | OMIM | 1 | | 916 | 9388 | 188830 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | PRKAR1A CL E G H | 5573 | 610489 | Pigmented nodular adrenocortical disease, primary, 1 | 610489 | C1864846 | OMIM | 1 | | 916 | 9388 | 188830 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | PRKAR1A CL E G H | 5573 | 610489 | Pigmented nodular adrenocortical disease, primary, 1 | 610489 | C1864846 | OMIM | 1 | | 916 | 9388 | 188830 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | PTCH1 CL E G H | 5727 | 77301 | | | | ORPHA | 1 | | 3848 | 9585 | 601309 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | PTCH1 CL E G H | 5727 | 77301 | | | | ORPHA | 1 | | 3848 | 9585 | 601309 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | PTCH1 CL E G H | 5727 | 77301 | | | | ORPHA | 1 | | 3848 | 9585 | 601309 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | PTEN CL E G H | 5728 | 744 | Aortic valves stenosis of the child | | | ORPHA | 1 | | 2750 | 9588 | 601728 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | PTEN CL E G H | 5728 | 744 | Aortic valves stenosis of the child | | | ORPHA | 1 | | 2750 | 9588 | 601728 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | PTEN CL E G H | 5728 | 744 | Aortic valves stenosis of the child | | | ORPHA | 1 | | 2750 | 9588 | 601728 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | PTEN CL E G H | 5728 | 158350 | Cowden syndrome 1 | 158350 | CN072330 | OMIM | 1 | | 2750 | 9588 | 601728 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | PTEN CL E G H | 5728 | 158350 | Cowden syndrome 1 | 158350 | CN072330 | OMIM | 1 | | 2750 | 9588 | 601728 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | PTEN CL E G H | 5728 | 158350 | Cowden syndrome 1 | 158350 | CN072330 | OMIM | 1 | | 2750 | 9588 | 601728 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | PUS1 CL E G H | 80324 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 337 | 15508 | 608109 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | PUS1 CL E G H | 80324 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 337 | 15508 | 608109 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | PUS1 CL E G H | 80324 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 337 | 15508 | 608109 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | PWAR1 CL E G H | 145624 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 295 | 30089 | 600161 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | PWAR1 CL E G H | 145624 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 295 | 30089 | 600161 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | PWAR1 CL E G H | 145624 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 295 | 30089 | 600161 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | PWRN1 CL E G H | 791114 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 305 | 33235 | 611215 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | PWRN1 CL E G H | 791114 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 305 | 33235 | 611215 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | PWRN1 CL E G H | 791114 | 176270 | Prader-Willi syndrome | 176270 | C0032897 | OMIM | 1 | | 305 | 33235 | 611215 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | RAB18 CL E G H | 22931 | 2510 | | | | ORPHA | 1 | | 180 | 14244 | 602207 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | RAB18 CL E G H | 22931 | 2510 | | | | ORPHA | 1 | | 180 | 14244 | 602207 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | RAB18 CL E G H | 22931 | 2510 | | | | ORPHA | 1 | | 180 | 14244 | 602207 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | RAB3GAP1 CL E G H | 22930 | 2510 | | | | ORPHA | 1 | | 317 | 17063 | 602536 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | RAB3GAP1 CL E G H | 22930 | 2510 | | | | ORPHA | 1 | | 317 | 17063 | 602536 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | RAB3GAP1 CL E G H | 22930 | 2510 | | | | ORPHA | 1 | | 317 | 17063 | 602536 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | RAB3GAP2 CL E G H | 25782 | 2510 | | | | ORPHA | 1 | | 474 | 17168 | 609275 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | RAB3GAP2 CL E G H | 25782 | 2510 | | | | ORPHA | 1 | | 474 | 17168 | 609275 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | RAB3GAP2 CL E G H | 25782 | 2510 | | | | ORPHA | 1 | | 474 | 17168 | 609275 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | RET CL E G H | 5979 | 162300 | Multiple endocrine neoplasia, type 2b | 162300 | C0025269 | OMIM | 1 | | 2692 | 9967 | 164761 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | RET CL E G H | 5979 | 162300 | Multiple endocrine neoplasia, type 2b | 162300 | C0025269 | OMIM | 1 | | 2692 | 9967 | 164761 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | RET CL E G H | 5979 | 162300 | Multiple endocrine neoplasia, type 2b | 162300 | C0025269 | OMIM | 1 | | 2692 | 9967 | 164761 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | RFC2 CL E G H | 5982 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 180 | 9970 | 600404 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | RFC2 CL E G H | 5982 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 180 | 9970 | 600404 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | RFC2 CL E G H | 5982 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 180 | 9970 | 600404 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | RIPPLY2 CL E G H | 134701 | 2311 | Autosomal recessive spondylocostal dysostosis | | CN043670 | ORPHA | 1 | | 69 | 21390 | 609891 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | RIPPLY2 CL E G H | 134701 | 2311 | Autosomal recessive spondylocostal dysostosis | | CN043670 | ORPHA | 1 | | 69 | 21390 | 609891 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | RIPPLY2 CL E G H | 134701 | 2311 | Autosomal recessive spondylocostal dysostosis | | CN043670 | ORPHA | 1 | | 69 | 21390 | 609891 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | ROBO3 CL E G H | 64221 | 2744 | | | | ORPHA | 1 | | 234 | 13433 | 608630 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | ROBO3 CL E G H | 64221 | 2744 | | | | ORPHA | 1 | | 234 | 13433 | 608630 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | ROBO3 CL E G H | 64221 | 2744 | | | | ORPHA | 1 | | 234 | 13433 | 608630 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | ROR2 CL E G H | 4920 | 1507 | Congenital unilateral pulmonary hypoplasia | | | ORPHA | 1 | | 474 | 10257 | 602337 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | ROR2 CL E G H | 4920 | 1507 | Congenital unilateral pulmonary hypoplasia | | | ORPHA | 1 | | 474 | 10257 | 602337 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | ROR2 CL E G H | 4920 | 1507 | Congenital unilateral pulmonary hypoplasia | | | ORPHA | 1 | | 474 | 10257 | 602337 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | RPS6KA3 CL E G H | 6197 | 303600 | Coffin-Lowry syndrome | 303600 | C0265252 | OMIM | 1 | | 426 | 10432 | 300075 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | RPS6KA3 CL E G H | 6197 | 303600 | Coffin-Lowry syndrome | 303600 | C0265252 | OMIM | 1 | | 426 | 10432 | 300075 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | RPS6KA3 CL E G H | 6197 | 303600 | Coffin-Lowry syndrome | 303600 | C0265252 | OMIM | 1 | | 426 | 10432 | 300075 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | RPS6KA3 CL E G H | 6197 | 192 | Karandikar Maria Kamble syndrome | | | ORPHA | 1 | | 426 | 10432 | 300075 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | RPS6KA3 CL E G H | 6197 | 192 | Karandikar Maria Kamble syndrome | | | ORPHA | 1 | | 426 | 10432 | 300075 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | RPS6KA3 CL E G H | 6197 | 192 | Karandikar Maria Kamble syndrome | | | ORPHA | 1 | | 426 | 10432 | 300075 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | RUNX2 CL E G H | 860 | 119600 | Cleidocranial dysostosis | 119600 | C0008928 | OMIM | 1 | | 373 | 10472 | 600211 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | RUNX2 CL E G H | 860 | 119600 | Cleidocranial dysostosis | 119600 | C0008928 | OMIM | 1 | | 373 | 10472 | 600211 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | RUNX2 CL E G H | 860 | 119600 | Cleidocranial dysostosis | 119600 | C0008928 | OMIM | 1 | | 373 | 10472 | 600211 |
HP:0002808 | HP:0002947 | Cervical kyphosis | 1 | SCARB2 CL E G H | 950 | 77259 | | | | ORPHA | 1 | | 422 | 1665 | 602257 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | SCARB2 CL E G H | 950 | 77259 | | | | ORPHA | 1 | | 422 | 1665 | 602257 |
HP:0002808 | HP:0002751 | Kyphoscoliosis | 1 | SCARB2 CL E G H | 950 | 77259 | | | | ORPHA | 1 | | 422 | 1665 | 602257 |
HP:0002808 | HP:0002942 | Thoracic kyphosis | 1 | SEC24D CL E G H | 9871 | 616294 | Cole-Carpenter syndrome 2 | 616294 | C4225382 | OMIM | 1 | | 286 | 10706 | |