Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040282 - Frequent | | | 72 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040282 - Frequent | | | 123 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | ACTG2 CL E G H | 72 | 145 | ORPHA:2604 | Familial visceral myopathy | HP:0040283 - Occasional | | | 23 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | ADAMTS10 CL E G H | 81794 | 13201 | OMIM:277600 | Weill-Marchesani syndrome 1 | | | | 63 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | ADAMTS2 CL E G H | 9509 | 218 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 165 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | ADAMTSL2 CL E G H | 9719 | 14631 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | ADAMTSL2 CL E G H | 9719 | 14631 | OMIM:231050 | Geleophysic dysplasia 1 | | | | 72 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | ADAMTSL4 CL E G H | 54507 | 19706 | ORPHA:1885 | Isolated ectopia lentis | HP:0040281 - Very frequent | | | 84 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | AGA CL E G H | 175 | 318 | ORPHA:93 | Aspartylglucosaminuria | HP:0040283 - Occasional | | | 76 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | ALDH3A2 CL E G H | 224 | 403 | ORPHA:816 | Sjögren-Larsson syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | ANTXR2 CL E G H | 118429 | 21732 | ORPHA:2176 | Infantile systemic hyalinosis | HP:0040281 - Very frequent | | | 49 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | ANTXR2 CL E G H | 118429 | 21732 | ORPHA:2028 | Juvenile hyaline fibromatosis | HP:0040283 - Occasional | | | 49 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | . | | | 120 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | ASPA CL E G H | 443 | 756 | ORPHA:314911 | Severe Canavan disease | HP:0040282 - Frequent | | | 48 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | ASPN CL E G H | 54829 | 14872 | OMIM:607850 | Hand osteoarthritis | . | | | 2 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | ATAD1 CL E G H | 84896 | 25903 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040281 - Very frequent | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | BANF1 CL E G H | 8815 | 17397 | OMIM:614008 | Nestor-Guillermo progeria syndrome | . | | | 22 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | BMP6 CL E G H | 654 | 1073 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | BMPR1B CL E G H | 658 | 1077 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | HP:0040281 - Very frequent | | | 90 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | CBS CL E G H | 875 | 1550 | ORPHA:394 | Classic homocystinuria | HP:0040282 - Frequent | | | 242 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | CCN6 CL E G H | 8838 | 12771 | OMIM:208230 | Arthropathy, progressive pseudorheumatoid, of childhood | . | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | CD244 CL E G H | 51744 | 18171 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 2 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | 8 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | CHMP1A CL E G H | 5119 | 8740 | OMIM:614961 | Pontocerebellar hypoplasia, type 8 | | | | 19 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | CIITA CL E G H | 4261 | 7067 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 118 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | CISD2 CL E G H | 493856 | 24212 | ORPHA:3463 | Wolfram syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 373 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 243 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:485 | Kniest dysplasia | HP:0040281 - Very frequent | | | 284 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:166011 | Multiple epiphyseal dysplasia, Beighton type | HP:0040283 - Occasional | | | 284 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:604864 | Osteoarthritis with mild chondrodysplasia | . | | | 284 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:616583 | Spondyloepiphyseal dysplasia, Stanescu type | . | | | 284 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:108300 | Stickler syndrome, type I | | | | 284 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | COMP CL E G H | 1311 | 2227 | OMIM:132400 | Epiphyseal dysplasia, multiple, 1 | . | | | 89 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | COMP CL E G H | 1311 | 2227 | ORPHA:93308 | Multiple epiphyseal dysplasia type 1 | HP:0040283 - Occasional | | | 89 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | COMP CL E G H | 1311 | 2227 | ORPHA:750 | Pseudoachondroplasia | HP:0040283 - Occasional | | | 89 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | DKK1 CL E G H | 22943 | 2891 | ORPHA:268882 | Arnold-Chiari malformation type I | | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | EED CL E G H | 8726 | 3188 | ORPHA:3447 | Weaver syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 107 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | EMG1 CL E G H | 10436 | 16912 | ORPHA:1270 | Bowen-Conradi syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | EPG5 CL E G H | 57724 | 29331 | ORPHA:1493 | Vici syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 20 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 83 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 199 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | EZH2 CL E G H | 2146 | 3527 | ORPHA:3447 | Weaver syndrome | HP:0040282 - Frequent | | | 81 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:969 | Acromicric dysplasia | HP:0040283 - Occasional | | | 1361 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:614185 | GELEOPHYSIC DYSPLASIA 2; GPHYSD2 | | | | 1361 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:1885 | Isolated ectopia lentis | HP:0040281 - Very frequent | | | 1361 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040283 - Occasional | | | 1361 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | | | | 1361 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | FBN2 CL E G H | 2201 | 3604 | ORPHA:115 | Congenital contractural arachnodactyly | HP:0040281 - Very frequent | | | 655 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | FGF9 CL E G H | 2254 | 3687 | ORPHA:3237 | Multiple synostoses syndrome | HP:0040281 - Very frequent | | | 75 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:1860 | Thanatophoric dysplasia type 1 | HP:0040283 - Occasional | | | 145 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 68 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | FKBP10 CL E G H | 60681 | 18169 | ORPHA:2771 | Bruck syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | FKBP10 CL E G H | 60681 | 18169 | ORPHA:1149 | Kuskokwim syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040283 - Occasional | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:314400 | Cardiac valvular dysplasia, X-linked | HP:0040284 - Very rare | | | 493 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | FUZ CL E G H | 80199 | 26219 | ORPHA:3027 | Caudal regression sequence | HP:0040282 - Frequent | | | 3 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:2098 | Acromesomelic dysplasia, Grebe type | HP:0040281 - Very frequent | | | 52 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:968 | Acromesomelic dysplasia, Hunter-Thompson type | HP:0040282 - Frequent | | | 52 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | GDF5 CL E G H | 8200 | 4220 | ORPHA:3237 | Multiple synostoses syndrome | HP:0040281 - Very frequent | | | 52 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230500 | GM1-gangliosidosis, type I | . | | | 120 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230600 | Gm1-gangliosidosis, type II | | | | 120 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | GLRA1 CL E G H | 2741 | 4326 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040281 - Very frequent | | | 63 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | GLRB CL E G H | 2743 | 4329 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040281 - Very frequent | | | 46 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | GNPTG CL E G H | 84572 | 23026 | OMIM:252605 | Mucolipidosis III gamma | . | | | 57 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | . | | | 69 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | GPHN CL E G H | 10243 | 15465 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040281 - Very frequent | | | 18 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | . | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | GUSB CL E G H | 2990 | 4696 | ORPHA:584 | Mucopolysaccharidosis type 7 | HP:0040282 - Frequent | | | 54 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | | | | 54 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | 38 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | HGD CL E G H | 3081 | 4892 | ORPHA:56 | Alkaptonuria | HP:0040281 - Very frequent | | | 77 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | HGSNAT CL E G H | 138050 | 26527 | OMIM:252930 | Mucopolysaccharidosis type IIIC | . | | | 86 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | HP:0040281 - Very frequent | | | 4 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:29207 | Reactive arthritis | HP:0040281 - Very frequent | | | 4 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | HP:0040281 - Very frequent | | | 2 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | HPGD CL E G H | 3248 | 5154 | ORPHA:1525 | Cranio-osteoarthropathy | HP:0040282 - Frequent | | | 55 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040281 - Very frequent | | | 345 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:296 | Ollier disease | HP:0040282 - Frequent | | | 15 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | IDH2 CL E G H | 3418 | 5383 | ORPHA:296 | Ollier disease | HP:0040282 - Frequent | | | 29 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | . | | | 115 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607015 | Hurler-Scheie syndrome | . | | | 115 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93474 | Scheie syndrome | HP:0040283 - Occasional | | | 115 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | IL10 CL E G H | 3586 | 5962 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 2 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | 65 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:2746 | Opsismodysplasia | HP:0040283 - Occasional | | | 18 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040283 - Occasional | | | 119 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | IRF6 CL E G H | 3664 | 6121 | ORPHA:1300 | Autosomal dominant popliteal pterygium syndrome | HP:0040281 - Very frequent | | | 99 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | KRT83 CL E G H | 3889 | 6460 | OMIM:617756 | Erythrokeratodermia variabilis et progressiva 5 | . | | | 65 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | L1CAM CL E G H | 3897 | 6470 | ORPHA:2182 | Hydrocephalus with stenosis of the aqueduct of Sylvius | HP:0040283 - Occasional | | | 134 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:1306 | Buschke-Ollendorff syndrome | HP:0040282 - Frequent | | | 68 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | LEMD3 CL E G H | 23592 | 28887 | OMIM:166700 | Buschke-Ollendorff syndrome | . | | | 68 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:166119 | Isolated osteopoikilosis | | | | 68 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 645 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:98855 | Autosomal recessive Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 645 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 645 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:248370 | Mandibuloacral dysplasia | . | | | 645 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | LTBP2 CL E G H | 4053 | 6715 | OMIM:614819 | Weill-Marchesani syndrome 3 | . | | | 123 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | LTBP3 CL E G H | 4054 | 6716 | ORPHA:969 | Acromicric dysplasia | HP:0040283 - Occasional | | | 12 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | MACROH2A1 CL E G H | 9555 | 4740 | ORPHA:1275 | Brachydactyly-elbow wrist dysplasia syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040283 - Occasional | | | 136 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | MATN3 CL E G H | 4148 | 6909 | ORPHA:93311 | Multiple epiphyseal dysplasia type 5 | HP:0040283 - Occasional | | | 32 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:1762 | Proximal Xq28 duplication syndrome | HP:0040283 - Occasional | | | 950 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | MFN2 CL E G H | 9927 | 16877 | ORPHA:2398 | Multiple symmetric lipomatosis | HP:0040281 - Very frequent | | | 203 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | MMP13 CL E G H | 4322 | 7159 | ORPHA:1040 | Metaphyseal anadysplasia | HP:0040281 - Very frequent | | | 52 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | MMP9 CL E G H | 4318 | 7176 | ORPHA:1040 | Metaphyseal anadysplasia | HP:0040281 - Very frequent | | | 31 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | MYBPC1 CL E G H | 4604 | 7549 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040282 - Frequent | | | 66 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040282 - Frequent | | | 166 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2053 | Freeman-Sheldon syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | NAGLU CL E G H | 4669 | 7632 | OMIM:252920 | Mucopolysaccharidosis type IIIB | . | | | 72 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040282 - Frequent | | | 48 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:2053 | Freeman-Sheldon syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | NDE1 CL E G H | 54820 | 17619 | ORPHA:2177 | Hydranencephaly | | | | 96 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | NDUFS3 CL E G H | 4722 | 7710 | OMIM:618230 | Mitochondrial complex I deficiency, nuclear type 8 | | | | 22 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | | | | 9 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | NFKBIL1 CL E G H | 4795 | 7800 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 1 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 494 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | NOG CL E G H | 9241 | 7866 | ORPHA:3237 | Multiple synostoses syndrome | HP:0040281 - Very frequent | | | 22 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | NPR2 CL E G H | 4882 | 7944 | ORPHA:40 | Acromesomelic dysplasia, Maroteaux type | HP:0040282 - Frequent | | | 53 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:3447 | Weaver syndrome | HP:0040282 - Frequent | | | 544 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040283 - Occasional | | | 88 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | HP:0040281 - Very frequent | | | 3 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:896 | Waardenburg syndrome type 3 | HP:0040281 - Very frequent | | | 59 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | PCYT1A CL E G H | 5130 | 8754 | OMIM:608940 | Spondylometaphyseal dysplasia with cone-rod dystrophy | | | | 11 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:1154 | Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome | HP:0040281 - Very frequent | | | 77 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:2461 | Marden-Walker syndrome | HP:0040281 - Very frequent | | | 77 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | PITX1 CL E G H | 5307 | 9004 | ORPHA:1275 | Brachydactyly-elbow wrist dysplasia syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:199351 | Adult-onset dystonia-parkinsonism | | | | 133 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | PLOD2 CL E G H | 5352 | 9082 | ORPHA:2771 | Bruck syndrome | HP:0040281 - Very frequent | | | 45 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | PNKD CL E G H | 25953 | 9153 | ORPHA:98810 | Paroxysmal non-kinesigenic dyskinesia | HP:0040283 - Occasional | | | 66 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | PPP1R12A CL E G H | 4659 | 7618 | OMIM:618820 | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS | | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | PRG4 CL E G H | 10216 | 9364 | OMIM:208250 | Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome | | | | 6 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:98810 | Paroxysmal non-kinesigenic dyskinesia | HP:0040283 - Occasional | | | 94 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | PTF1A CL E G H | 256297 | 23734 | OMIM:609069 | Pancreatic and cerebellar agenesis | . | | | 22 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | PTH1R CL E G H | 5745 | 9608 | ORPHA:296 | Ollier disease | HP:0040282 - Frequent | | | 58 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | HP:0040281 - Very frequent | | | 3 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | PTPN22 CL E G H | 26191 | 9652 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 3 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | 3 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | RAB18 CL E G H | 22931 | 14244 | ORPHA:2510 | Micro syndrome | HP:0040281 - Very frequent | | | 85 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:2510 | Micro syndrome | HP:0040281 - Very frequent | | | 90 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:2510 | Micro syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:266280 | Rapadilino syndrome | | | | 445 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:1824 | Lowry-Wood syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:2307 | IVIC syndrome | HP:0040281 - Very frequent | | | 86 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | SCUBE3 CL E G H | 222663 | 13655 | OMIM:619184 | SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2 | | | | 1 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | | | | 143 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:245 | Nager syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | SGSH CL E G H | 6448 | 10818 | OMIM:252900 | Mucopolysaccharidosis type IIIA | . | | | 97 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | SH3PXD2B CL E G H | 285590 | 29242 | ORPHA:137834 | Frank-Ter Haar syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | SHOX CL E G H | 6473 | 10853 | ORPHA:240 | Léri-Weill dyschondrosteosis | HP:0040281 - Very frequent | | | 66 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | SLC22A4 CL E G H | 6583 | 10968 | OMIM:180300 | RHEUMATOID ARTHRITIS; RA | | | | 3 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:628 | Diastrophic dysplasia | HP:0040282 - Frequent | | | 166 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | HP:0040282 - Frequent | | | 166 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | SLC6A5 CL E G H | 9152 | 11051 | ORPHA:3197 | Hereditary hyperekplexia | HP:0040281 - Very frequent | | | 81 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:2588 | Myhre syndrome | HP:0040281 - Very frequent | | | 504 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:139210 | Myhre syndrome | | | | 504 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040282 - Frequent | | | 2 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | STING1 CL E G H | 340061 | 27962 | OMIM:615934 | STING-associated vasculopathy, infantile-onset | | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | SUMF1 CL E G H | 285362 | 20376 | ORPHA:585 | Multiple sulfatase deficiency | HP:0040282 - Frequent | | | 80 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | SUZ12 CL E G H | 23512 | 17101 | ORPHA:3447 | Weaver syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 1129 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | SYNE2 CL E G H | 23224 | 17084 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 508 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | TBC1D20 CL E G H | 128637 | 16133 | ORPHA:2510 | Micro syndrome | HP:0040281 - Very frequent | | | 15 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | TBX5 CL E G H | 6910 | 11604 | ORPHA:392 | Holt-Oram syndrome | HP:0040281 - Very frequent | | | 123 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | TGDS CL E G H | 23483 | 20324 | ORPHA:1388 | Catel-Manzke syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | TMEM43 CL E G H | 79188 | 28472 | ORPHA:98853 | Autosomal dominant Emery-Dreifuss muscular dystrophy | HP:0040281 - Very frequent | | | 171 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | TNNI2 CL E G H | 7136 | 11946 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040282 - Frequent | | | 37 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | TNNI2 CL E G H | 7136 | 11946 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | TNNT3 CL E G H | 7140 | 11950 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040282 - Frequent | | | 43 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | TNNT3 CL E G H | 7140 | 11950 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:108120 | Arthrogryposis, distal, type 1A | | | | 54 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040282 - Frequent | | | 54 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040281 - Very frequent | | | 54 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | TRAPPC2 CL E G H | 6399 | 23068 | ORPHA:93284 | Spondyloepiphyseal dysplasia tarda | | | | 46 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:1216 | Autosomal dominant congenital benign spinal muscular atrophy | HP:0040281 - Very frequent | | | 214 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:2635 | Metatropic dysplasia | HP:0040281 - Very frequent | | | 214 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | VANGL1 CL E G H | 81839 | 15512 | ORPHA:3027 | Caudal regression sequence | HP:0040282 - Frequent | | | 111 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | HP:0040282 - Frequent | | | 1 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | WFS1 CL E G H | 7466 | 12762 | ORPHA:3463 | Wolfram syndrome | HP:0040283 - Occasional | | | 389 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040283 - Occasional | | | 310 | | |
HP:0001387 | HP:0001387 | Joint stiffness | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0001387 | HP:0025260 | Stiff wrist | 1 | CL E G H | | | | | | | | | | |
HP:0001387 | HP:0025265 | Stiff toe | 1 | CL E G H | | | | | | | | | | |
HP:0001387 | HP:0025261 | Stiff finger | 1 | CL E G H | | | | | | | | | | |
HP:0001387 | HP:0005198 | Stiff interphalangeal joints | 1 | BMP6 CL E G H | 654 | 1073 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | | | |
HP:0001387 | HP:0025258 | Stiff neck | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:616583 | Spondyloepiphyseal dysplasia, Stanescu type | . | | | 284 | | |
HP:0001387 | HP:0025258 | Stiff neck | 1 | DKK1 CL E G H | 22943 | 2891 | ORPHA:268882 | Arnold-Chiari malformation type I | HP:0040282 - Frequent | | | | | |
HP:0001387 | HP:0005198 | Stiff interphalangeal joints | 1 | HFE CL E G H | 3077 | 4886 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040283 - Occasional | | | 38 | | |
HP:0001387 | HP:0025258 | Stiff neck | 1 | NDE1 CL E G H | 54820 | 17619 | ORPHA:2177 | Hydranencephaly | HP:0040282 - Frequent | | | 96 | | |
HP:0001387 | HP:0025258 | Stiff neck | 1 | NDUFS3 CL E G H | 4722 | 7710 | OMIM:618230 | Mitochondrial complex I deficiency, nuclear type 8 | | | | 22 | | |
HP:0001387 | HP:0025258 | Stiff neck | 1 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | . | | | 9 | | |
HP:0001387 | HP:0025262 | Stiff hip | 1 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:199351 | Adult-onset dystonia-parkinsonism | HP:0040282 - Frequent | | | 133 | | |
HP:0001387 | HP:0005197 | Generalized morning stiffness | 1 | PRG4 CL E G H | 10216 | 9364 | OMIM:208250 | Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome | . | | | 6 | | |
HP:0001387 | HP:0005198 | Stiff interphalangeal joints | 1 | RECQL4 CL E G H | 9401 | 9949 | OMIM:266280 | Rapadilino syndrome | . | | | 445 | | |
HP:0001387 | HP:0025259 | Stiff elbow | 1 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040284 - Very rare | | | 143 | | |
HP:0001387 | HP:0025264 | Stiff ankle | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | HP:0040283 - Occasional | | | 166 | | |
HP:0001387 | HP:0025259 | Stiff elbow | 1 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0001387 | HP:0009742 | Stiff shoulders | 1 | TPM2 CL E G H | 7169 | 12011 | OMIM:108120 | Arthrogryposis, distal, type 1A | . | | | 54 | | |
HP:0001387 | HP:0025263 | Stiff knee | 1 | TRAPPC2 CL E G H | 6399 | 23068 | ORPHA:93284 | Spondyloepiphyseal dysplasia tarda | HP:0040283 - Occasional | | | 46 | | |