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:0002751 | HP:0002751 | Kyphoscoliosis | 0 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | . | | | 16 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | ACTB CL E G H | 60 | 132 | OMIM:607371 | Dystonia, juvenile-onset | . | | | 72 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | HP:0040283 - Occasional | | | | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 127 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | | | | 60 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | AIMP1 CL E G H | 9255 | 10648 | OMIM:260600 | Leukodystrophy, hypomyelinating, 3 | . | | | 4 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | AIMP2 CL E G H | 7965 | 20609 | OMIM:618006 | Leukodystrophy, hypomyelinating, 17 | . | | | 1 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | AKT1 CL E G H | 207 | 391 | OMIM:176920 | Proteus syndrome, somatic | . | | | 54 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447760 | Autosomal recessive spastic paraplegia type 9B | HP:0040283 - Occasional | | | 89 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | ARID2 CL E G H | 196528 | 18037 | OMIM:617808 | Coffin-siris syndrome 6 | | | | 25 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | ARSB CL E G H | 411 | 714 | OMIM:253200 | Mucopolysaccharidosis, type VI | | | | 120 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | ATAD1 CL E G H | 84896 | 25903 | OMIM:618011 | Hyperekplexia 4 | . | | | | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | ATG7 CL E G H | 10533 | 16935 | OMIM:619422 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31 | | | | 1 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:617403 | Cutis laxa, autosomal recessive, type IID | | | | 3 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | ATP6V1E1 CL E G H | 529 | 857 | OMIM:617402 | Cutis laxa, autosomal recessive, type IIC | . | | | 2 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | . | | | 169 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | . | | | 169 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 38 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:615349 | Ehlers-Danlos syndrome, spondylodysplastic type, 2 | . | | | 38 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:93359 | Spondyloepimetaphyseal dysplasia with joint laxity | HP:0040282 - Frequent | | | 38 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | . | | | 38 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | B4GALT7 CL E G H | 11285 | 930 | ORPHA:75496 | B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 29 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:309800 | Microphthalmia, syndromic 1 | . | HP:0003577 - Congenital onset | | 101 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | BMP1 CL E G H | 649 | 1067 | OMIM:614856 | Osteogenesis imperfecta, type XIII | HP:0040283 - Occasional | | | 49 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | . | | | 276 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | CBS CL E G H | 875 | 1550 | OMIM:236200 | Homocystinuria due to cystathionine beta-synthase deficiency | . | | | 242 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | CCN6 CL E G H | 8838 | 12771 | OMIM:208230 | Arthropathy, progressive pseudorheumatoid, of childhood | . | | | | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | CCN6 CL E G H | 8838 | 12771 | ORPHA:1159 | Progressive pseudorheumatoid arthropathy of childhood | | | | | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | | | | 2 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | CFL2 CL E G H | 1073 | 1875 | OMIM:610687 | Nemaline myopathy 7 | | | | 35 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 65 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 27 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | CHST3 CL E G H | 9469 | 1971 | ORPHA:263463 | CHST3-related skeletal dysplasia | HP:0040282 - Frequent | | | 165 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | . | | | 165 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | CLIC2 CL E G H | 1193 | 2063 | OMIM:300886 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32 | | | | 4 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | CLIC2 CL E G H | 1193 | 2063 | ORPHA:324410 | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | CLP1 CL E G H | 10978 | 16999 | OMIM:615803 | Pontocerebellar hypoplasia, type 10 | . | | | 7 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | HP:0040283 - Occasional | | | 52 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:536516 | Myopathic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | COL12A1 CL E G H | 1303 | 2188 | OMIM:616470 | ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2 | | | | 65 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 6 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:230851 | Cardiac-valvular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 243 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85198 | Dysspondyloenchondromatosis | HP:0040281 - Very frequent | | | 284 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | | | | 284 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:616583 | Spondyloepiphyseal dysplasia, Stanescu type | . | | | 284 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93316 | Spondylometaphyseal dysplasia, Schmidt type | HP:0040283 - Occasional | | | 284 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | CRLF1 CL E G H | 9244 | 2364 | OMIM:272430 | Crisponi/cold-induced sweating syndrome 1 | . | | | 24 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040283 - Occasional | | | | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | . | | | 17 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040282 - Frequent | | | 1 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | DLL3 CL E G H | 10683 | 2909 | OMIM:277300 | Spondylocostal dysostosis, autosomal recessive 1 | | | | 45 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | DNA2 CL E G H | 1763 | 2939 | OMIM:615807 | Seckel syndrome 8 | . | | | 41 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:404443 | Tatton-Brown-Rahman syndrome | HP:0040282 - Frequent | | | 44 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | DSTYK CL E G H | 25778 | 29043 | ORPHA:101003 | Autosomal recessive spastic paraplegia type 23 | HP:0040282 - Frequent | | | 13 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | | | | 14 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | | | | 51 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | EGR2 CL E G H | 1959 | 3239 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 58 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | ERCC1 CL E G H | 2067 | 3433 | OMIM:610758 | Cerebrooculofacioskeletal syndrome 4 | . | | | 20 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:610756 | Cerebrooculofacioskeletal syndrome 2 | | | | 106 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | . | | | 199 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | EXOC6B CL E G H | 23233 | 17085 | ORPHA:93359 | Spondyloepimetaphyseal dysplasia with joint laxity | HP:0040282 - Frequent | | | 3 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | EXTL3 CL E G H | 2137 | 3518 | OMIM:617425 | Immunoskeletal dysplasia with neurodevelopmental abnormalities | . | | | 3 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | FARS2 CL E G H | 10667 | 21062 | ORPHA:466722 | Autosomal recessive spastic paraplegia type 77 | HP:0040283 - Occasional | | | 36 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | | | | 1361 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | FBN2 CL E G H | 2201 | 3604 | ORPHA:115 | Congenital contractural arachnodactyly | | | | 655 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | FBN2 CL E G H | 2201 | 3604 | OMIM:121050 | Contractural arachnodactyly, congenital | | | | 655 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | FKBP10 CL E G H | 60681 | 18169 | OMIM:610968 | Osteogenesis imperfecta, type XI | . | | | 61 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | FKBP14 CL E G H | 55033 | 18625 | OMIM:614557 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | . | | | 13 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | FKBP14 CL E G H | 55033 | 18625 | ORPHA:300179 | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency | HP:0040281 - Very frequent | | | 13 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040283 - Occasional | | | 157 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040283 - Occasional | | | 184 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:309350 | Melnick-Needles syndrome | . | | | 493 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | FUT8 CL E G H | 2530 | 4019 | OMIM:618005 | Congenital disorder of glycosylation with defective fucosylation 1 | . | | | 3 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | . | | | 108 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | GDAP1 CL E G H | 54332 | 15968 | OMIM:214400 | Charcot-Marie-Tooth disease, type 4A | HP:0040282 - Frequent | | | 108 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | GLS CL E G H | 2744 | 4331 | OMIM:618339 | Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development | | | | | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | GORAB CL E G H | 92344 | 25676 | OMIM:231070 | Geroderma osteodysplasticum | . | | | 52 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | GZF1 CL E G H | 64412 | 15808 | OMIM:617662 | Joint laxity, short stature, and myopia | . | | | | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | H1-4 CL E G H | 3008 | 4718 | OMIM:617537 | Rahman syndrome | . | | | | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | HGSNAT CL E G H | 138050 | 26527 | OMIM:252930 | Mucopolysaccharidosis type IIIC | . | | | 86 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | HMGB3 CL E G H | 3149 | 5004 | OMIM:300915 | Microphthalmia, syndromic 13 | HP:0040283 - Occasional | | | 2 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 113 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | . | | | 345 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | HTRA1 CL E G H | 5654 | 9476 | ORPHA:199354 | Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy | | | | 34 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | . | | | 52 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 127 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:619574 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH | | | | 257 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | JPH1 CL E G H | 56704 | 14201 | OMIM:607831 | Charcot-Marie-Tooth disease, axonal, type 2K | . | | | 1 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:37612 | Episodic ataxia type 1 | HP:0040283 - Occasional | | | 145 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | KIF22 CL E G H | 3835 | 6391 | ORPHA:93360 | Spondyloepimetaphyseal dysplasia with multiple dislocations | HP:0040283 - Occasional | | | 14 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 196 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | KY CL E G H | 339855 | 26576 | ORPHA:496689 | Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | LAMA2 CL E G H | 3908 | 6482 | OMIM:607855 | Muscular dystrophy, congenital, merosin deficient or partially deficient | | | | 411 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:231720 | Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome | | | | 51 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:605588 | Charcot-Marie-Tooth disease, axonal, type 2B1 | . | | | 645 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:259770 | Osteoporosis-Pseudoglioma syndrome | . | | | 125 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | . | | | 134 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:260540 | Supranuclear palsy, progressive atypical | . | | | 140 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | | | | 950 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3077 | X-linked intellectual disability-psychosis-macroorchidism syndrome | HP:0040283 - Occasional | | | 950 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040282 - Frequent | | | 1 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | MEGF8 CL E G H | 1954 | 3233 | ORPHA:65759 | Carpenter syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | MESD CL E G H | 23184 | 13520 | OMIM:618644 | OSTEOGENESIS IMPERFECTA, TYPE XX; OI20 | | | | | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | MESP2 CL E G H | 145873 | 29659 | OMIM:277300 | Spondylocostal dysostosis, autosomal recessive 1 | | | | 45 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | | | | 39 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | MMP2 CL E G H | 4313 | 7166 | OMIM:259600 | Multicentric osteolysis, nodulosis, and arthropathy | | | | 64 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:118200 | Charcot-Marie-Tooth disease, demyelinating, type 1B | HP:0040282 - Frequent | | | 134 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 134 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | MPZ CL E G H | 4359 | 7225 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | . | | | 134 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | MRPS34 CL E G H | 65993 | 16618 | OMIM:617664 | Combined oxidative phosphorylation deficiency 32 | . | | | 1 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040283 - Occasional | | | 81 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | . | | | 166 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 131 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:309800 | Microphthalmia, syndromic 1 | . | HP:0003577 - Congenital onset | | 23 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | NDRG1 CL E G H | 10397 | 7679 | ORPHA:99950 | Charcot-Marie-Tooth disease type 4D | HP:0040283 - Occasional | | | 82 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | NDUFS3 CL E G H | 4722 | 7710 | OMIM:618230 | Mitochondrial complex I deficiency, nuclear type 8 | . | | | 22 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | NEMF CL E G H | 9147 | 10663 | OMIM:619099 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY; IDDSAPN | | | | 1 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | NEPRO CL E G H | 25871 | 24496 | OMIM:618853 | ANAUXETIC DYSPLASIA 3; ANXD3 | | | | | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | HP:0040284 - Very rare | | | 1952 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:447980 | 19p13.3 microduplication syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | NKX3-2 CL E G H | 579 | 951 | OMIM:613330 | Spondylo-Megaepiphyseal-Metaphyseal dysplasia | | | | 10 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:102500 | Hajdu-Cheney syndrome | . | | | 138 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:163200 | Schimmelpenning-Feuerstein-Mims syndrome | . | | | 102 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | NSDHL CL E G H | 50814 | 13398 | ORPHA:251383 | CK syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | NUP107 CL E G H | 57122 | 29914 | OMIM:618348 | Galloway-Mowat syndrome 7 | | | | 5 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | PAPSS2 CL E G H | 9060 | 8604 | OMIM:612847 | Brachyolmia 4 with mild epiphyseal and metaphyseal changes | . | | | 20 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | PEX7 CL E G H | 5191 | 8860 | OMIM:215100 | Rhizomelic chondrodysplasia punctata, type 1 | . | | | 72 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:114300 | Arthrogryposis, distal, type 3 | . | | | 77 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | | | | 105 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040282 - Frequent | | | 150 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:101081 | Charcot-Marie-Tooth disease type 1A | HP:0040283 - Occasional | | | 79 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:118220 | Charcot-Marie-Tooth disease, demyelinating, type 1A | . | | | 79 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 79 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040282 - Frequent | | | 79 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | . | | | 79 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | PNKP CL E G H | 11284 | 9154 | ORPHA:459033 | Ataxia-oculomotor apraxia type 4 | HP:0040283 - Occasional | | | 244 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040283 - Occasional | | | 213 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | POP1 CL E G H | 10940 | 30129 | OMIM:617396 | Anauxetic dysplasia 2 | | | | 6 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | PPP1R12A CL E G H | 4659 | 7618 | OMIM:618820 | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS | | | | | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | PPP1R15B CL E G H | 84919 | 14951 | OMIM:616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | | | | 2 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | PRX CL E G H | 57716 | 13797 | OMIM:145900 | Hypertrophic neuropathy of dejerine-sottas | . | | | 170 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | . | | | 665 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | . | | | 40 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:151100 | Leopard syndrome 1 | . | | | 291 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | . | | | 291 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | . | | | 85 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | RAB23 CL E G H | 51715 | 14263 | ORPHA:65759 | Carpenter syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:600118 | Warburg micro syndrome 1 | . | | | 90 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | RBM28 CL E G H | 55131 | 21863 | OMIM:612079 | Alopecia, neurologic defects, and endocrinopathy syndrome | . | | | 1 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | RBM28 CL E G H | 55131 | 21863 | ORPHA:157954 | ANE syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:268400 | ROTHMUND-THOMSON SYNDROME; RTS | | | | 445 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:300844 | MENTAL RETARDATION, X-LINKED 19; MRX19 | | | | 65 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040282 - Frequent | | | | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:597 | Central core disease | HP:0040282 - Frequent | | | 1200 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:619542 | KING-DENBOROUGH SYNDROME; KDS | | | | 1200 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SBF2 CL E G H | 81846 | 2135 | ORPHA:99956 | Charcot-Marie-Tooth disease type 4B2 | | | | 180 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SBF2 CL E G H | 81846 | 2135 | OMIM:604563 | Charcot-Marie-Tooth disease, type 4B2 | . | | | 180 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 144 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040283 - Occasional | | | 143 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SLC10A7 CL E G H | 84068 | 23088 | OMIM:618363 | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | . | | | | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SLC16A2 CL E G H | 6567 | 10923 | ORPHA:59 | Allan-Herndon-Dudley syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 2 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SLC1A2 CL E G H | 6506 | 10940 | OMIM:617105 | Epileptic encephalopathy, early infantile, 41 | . | | | 3 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 28 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | | | | 166 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:222600 | Diastrophic dysplasia | . | | | 166 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SLC39A13 CL E G H | 91252 | 20859 | OMIM:612350 | Ehlers-Danlos syndrome, spondylodysplastic type, 3 | | | | 24 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SLC52A2 CL E G H | 79581 | 30224 | OMIM:614707 | Brown-Vialetto-Van laere syndrome 2 | HP:0040283 - Occasional | | | 47 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 9 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | . | | | 19 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | HP:0040281 - Very frequent | | | 19 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 2 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SNX14 CL E G H | 57231 | 14977 | OMIM:616354 | Spinocerebellar ataxia, autosomal recessive 20 | | | | 14 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | . | | | 109 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SPART CL E G H | 23111 | 18514 | OMIM:275900 | Spastic paraplegia 20, autosomal recessive | . | | | 66 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:616668 | Charcot-Marie-Tooth disease, axonal, type 2X | HP:0040283 - Occasional | | | 287 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | STAC3 CL E G H | 246329 | 28423 | OMIM:255995 | Myopathy, congenital, bailey-bloch | . | | | 14 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | . | | | 124 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SURF1 CL E G H | 6834 | 11474 | OMIM:616684 | Charcot-Marie-Tooth disease, type 4K | | | | 73 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SYNE1 CL E G H | 23345 | 17089 | OMIM:618484 | Arthrogryposis multiplex congenita, Myogenic type | | | | 1129 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 4 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | TCTN3 CL E G H | 26123 | 24519 | OMIM:614815 | Joubert syndrome 18 | . | | | 31 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | HP:0040283 - Occasional | | | 12 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | TELO2 CL E G H | 9894 | 29099 | OMIM:616954 | You-Hoover-Fong syndrome | . | | | 12 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | TMEM165 CL E G H | 55858 | 30760 | OMIM:614727 | Congenital disorder of glycosylation, type IIK | . | | | 24 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | HP:0040283 - Occasional | | | | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | TONSL CL E G H | 4796 | 7801 | OMIM:271510 | Spondyloepimetaphyseal dysplasia, Sponastrime type | . | | | | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:609285 | Nemaline myopathy 4 | . | | | 54 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | TRAPPC2 CL E G H | 6399 | 23068 | ORPHA:93284 | Spondyloepiphyseal dysplasia tarda | HP:0040283 - Occasional | | | 46 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:93304 | Autosomal dominant brachyolmia | HP:0040281 - Very frequent | | | 214 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | | | | 214 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:184252 | Spondylometaphyseal dysplasia, Kozlowski type | . | | | 214 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | TTI2 CL E G H | 80185 | 26262 | OMIM:615541 | Mental retardation, autosomal recessive 39 | . | | | 11 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | TTI2 CL E G H | 80185 | 26262 | ORPHA:391307 | Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | HP:0040283 - Occasional | | | 64 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | TUBB4A CL E G H | 10382 | 20774 | ORPHA:98805 | Primary dystonia, DYT4 type | HP:0040283 - Occasional | | | 66 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | UBA1 CL E G H | 7317 | 12469 | ORPHA:1145 | Infantile-onset X-linked spinal muscular atrophy | HP:0040283 - Occasional | | | 35 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040283 - Occasional | | | 2 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | WDR45B CL E G H | 56270 | 25072 | OMIM:617977 | Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | . | | | 1 | | |
HP:0002751 | HP:0002751 | Kyphoscoliosis | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | . | | | 83 | | |
HP:0002751 | HP:0004619 | Lumbar kyphoscoliosis | 1 | ATG7 CL E G H | 10533 | 16935 | OMIM:619422 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31 | | | | 1 | | |
HP:0002751 | HP:0008453 | Congenital kyphoscoliosis | 1 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0002751 | HP:0003423 | Thoracolumbar kyphoscoliosis | 1 | CCN6 CL E G H | 8838 | 12771 | ORPHA:1159 | Progressive pseudorheumatoid arthropathy of childhood | HP:0040282 - Frequent | | | | | |
HP:0002751 | HP:0003423 | Thoracolumbar kyphoscoliosis | 1 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0002751 | HP:0004619 | Lumbar kyphoscoliosis | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | . | | | 284 | | |
HP:0002751 | HP:0008453 | Congenital kyphoscoliosis | 1 | FBN2 CL E G H | 2201 | 3604 | ORPHA:115 | Congenital contractural arachnodactyly | HP:0040281 - Very frequent | | | 655 | | |
HP:0002751 | HP:0008453 | Congenital kyphoscoliosis | 1 | FBN2 CL E G H | 2201 | 3604 | OMIM:121050 | Contractural arachnodactyly, congenital | . | | | 655 | | |
HP:0002751 | HP:0003423 | Thoracolumbar kyphoscoliosis | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0002751 | HP:0003423 | Thoracolumbar kyphoscoliosis | 1 | LHX3 CL E G H | 8022 | 6595 | ORPHA:231720 | Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome | HP:0040281 - Very frequent | | | 51 | | |
HP:0002751 | HP:0003423 | Thoracolumbar kyphoscoliosis | 1 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | . | | | 39 | | |
HP:0002751 | HP:0003423 | Thoracolumbar kyphoscoliosis | 1 | NEPRO CL E G H | 25871 | 24496 | OMIM:618853 | ANAUXETIC DYSPLASIA 3; ANXD3 | | | | | | |
HP:0002751 | HP:0003423 | Thoracolumbar kyphoscoliosis | 1 | POP1 CL E G H | 10940 | 30129 | OMIM:617396 | Anauxetic dysplasia 2 | . | | | 6 | | |
HP:0002751 | HP:0003423 | Thoracolumbar kyphoscoliosis | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | HP:0040282 - Frequent | | | 166 | | |