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:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | | | | 254 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ABCC9 CL E G H | 10060 | 60 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | | | | 254 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ACAN CL E G H | 176 | 319 | ORPHA:171866 | Spondyloepimetaphyseal dysplasia, aggrecan type | | | | 34 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ACAN CL E G H | 176 | 319 | OMIM:612813 | Spondyloepimetaphyseal dysplasia, Aggrecan type | | | | 34 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | | | | 96 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 72 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | | | | 72 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 123 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ACTG1 CL E G H | 71 | 144 | OMIM:614583 | Baraitser-Winter syndrome 2 | | | | 123 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | | | | 9 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | AEBP1 CL E G H | 165 | 303 | OMIM:618000 | Ehlers-Danlos syndrome, classic-like, 2 | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | | | | 60 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ALDOA CL E G H | 226 | 414 | OMIM:611881 | Glycogen storage disease XII | | | | 50 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ALG8 CL E G H | 79053 | 23161 | OMIM:608104 | Congenital disorder of glycosylation, type Ih | | | | 46 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | | | | 93 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | | | | 93 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:263210 | Gillessen-Kaesbach-Nishimura syndrome | | | | 93 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:2332 | KBG syndrome | | | | 102 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ANKRD11 CL E G H | 29123 | 21316 | OMIM:148050 | Kbg syndrome | | | | 102 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ANTXR2 CL E G H | 118429 | 21732 | ORPHA:2176 | Infantile systemic hyalinosis | | | | 49 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | AP5Z1 CL E G H | 9907 | 22197 | ORPHA:306511 | Autosomal recessive spastic paraplegia type 48 | HP:0040282 - Frequent | | | 165 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | | | | 3179 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ARL6 CL E G H | 84100 | 13210 | ORPHA:110 | Bardet-Biedl syndrome | | | | 29 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 5 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:616455 | Zimmermann-Laband syndrome 2 | | | | 5 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | | | | 169 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | | | | 38 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | | | | 38 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 5 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | | | | 36 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | | | | 36 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:619762 | KURY-ISIDOR SYNDROME; KURIS | | | | 184 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | BBIP1 CL E G H | 92482 | 28093 | ORPHA:110 | Bardet-Biedl syndrome | | | | 1 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | BBS1 CL E G H | 582 | 966 | ORPHA:110 | Bardet-Biedl syndrome | | | | 114 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | BBS10 CL E G H | 79738 | 26291 | ORPHA:110 | Bardet-Biedl syndrome | | | | 118 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | BBS12 CL E G H | 166379 | 26648 | ORPHA:110 | Bardet-Biedl syndrome | | | | 71 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | BBS2 CL E G H | 583 | 967 | ORPHA:110 | Bardet-Biedl syndrome | | | | 97 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | BBS4 CL E G H | 585 | 969 | ORPHA:110 | Bardet-Biedl syndrome | | | | 87 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | BBS5 CL E G H | 129880 | 970 | ORPHA:110 | Bardet-Biedl syndrome | | | | 25 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | BBS7 CL E G H | 55212 | 18758 | ORPHA:110 | Bardet-Biedl syndrome | | | | 66 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | BBS9 CL E G H | 27241 | 30000 | ORPHA:110 | Bardet-Biedl syndrome | | | | 119 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | BGN CL E G H | 633 | 1044 | OMIM:300989 | Meester-Loeys syndrome | | | | 7 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | | | | 78 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | BMPER CL E G H | 168667 | 24154 | ORPHA:66637 | Diaphanospondylodysostosis | | | | 78 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | BPTF CL E G H | 2186 | 3581 | ORPHA:529962 | 17q24.2 microdeletion syndrome | | | | 2 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 276 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | | | | 276 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613706 | Noonan syndrome 7 | | | | 276 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | | | | 7 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | BRF1 CL E G H | 2972 | 11551 | OMIM:616202 | Cerebellofaciodental syndrome | | | | 7 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | | | | 76 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | | | | 27 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CANT1 CL E G H | 124583 | 19721 | ORPHA:1425 | Desbuquois syndrome | | | | 85 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CBL CL E G H | 867 | 1541 | OMIM:613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | | | | 317 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | | | | 33 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CCDC8 CL E G H | 83987 | 25367 | ORPHA:2616 | 3M syndrome | | | | 5 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CCDC8 CL E G H | 83987 | 25367 | OMIM:614205 | THREE M SYNDROME 3; 3M3 | | | | 5 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CCN6 CL E G H | 8838 | 12771 | OMIM:208230 | Arthropathy, progressive pseudorheumatoid, of childhood | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 8 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | | | | 83 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CDK5 CL E G H | 1020 | 1774 | OMIM:616342 | Lissencephaly 7 with cerebellar hypoplasia | | | | 3 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CEP19 CL E G H | 84984 | 28209 | ORPHA:110 | Bardet-Biedl syndrome | | | | 1 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:110 | Bardet-Biedl syndrome | | | | 342 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CEP55 CL E G H | 55165 | 1161 | OMIM:236500 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | | | | 2 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:110 | Bardet-Biedl syndrome | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | | | | 35 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | | | | 35 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | | | | 74 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | | | | 88 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | | | | 68 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | | | | 68 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 27 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 165 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | | | | 165 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CLDN11 CL E G H | 5010 | 8514 | OMIM:619328 | Leukodystrophy, hypomyelinating, 22 | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | | | | 52 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | | | | 52 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | | | | 79 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | COG7 CL E G H | 91949 | 18622 | ORPHA:79333 | COG7-CDG | | | | 64 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | | | | 64 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:2021 | Fibrochondrogenesis | | | | 215 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | | | | 215 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:2021 | Fibrochondrogenesis | | | | 222 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:1427 | Otospondylomegaepiphyseal dysplasia | | | | 222 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 65 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | | | | 284 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:485 | Kniest dysplasia | | | | 284 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:151210 | Platyspondylic lethal skeletal dysplasia, Torrance type | | | | 284 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184250 | Spondyloepimetaphyseal dysplasia, Strudwick type | | | | 284 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:183900 | Spondyloepiphyseal dysplasia congenita | | | | 284 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:94068 | Spondyloepiphyseal dysplasia congenita | | | | 284 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | | | | 284 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 442 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 478 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 702 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | COMP CL E G H | 1311 | 2227 | ORPHA:750 | Pseudoachondroplasia | | | | 89 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | HP:0040283 - Occasional | | | 291 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353277 | Rubinstein-Taybi syndrome due to CREBBP mutations | HP:0040283 - Occasional | | | 291 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CRLF1 CL E G H | 9244 | 2364 | OMIM:272430 | Crisponi/cold-induced sweating syndrome 1 | | | | 24 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CSGALNACT1 CL E G H | 55790 | 24290 | ORPHA:1425 | Desbuquois syndrome | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CTDP1 CL E G H | 9150 | 2498 | ORPHA:48431 | Congenital cataracts-facial dysmorphism-neuropathy syndrome | HP:0040282 - Frequent | | | 17 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CTNND2 CL E G H | 1501 | 2516 | ORPHA:281 | Monosomy 5p | | | | 15 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CUL4B CL E G H | 8450 | 2555 | ORPHA:85293 | X-linked intellectual disability, Cabezas type | | | | 38 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CUL7 CL E G H | 9820 | 21024 | OMIM:273750 | 3-M syndrome 1 | | | | 127 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | CUL7 CL E G H | 9820 | 21024 | ORPHA:2616 | 3M syndrome | | | | 127 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | DCC CL E G H | 1630 | 2701 | ORPHA:2744 | Horizontal gaze palsy with progressive scoliosis | | | | 36 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | | | | 45 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | DDRGK1 CL E G H | 65992 | 16110 | ORPHA:93352 | Spondyloepimetaphyseal dysplasia, Shohat type | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | DDRGK1 CL E G H | 65992 | 16110 | OMIM:602557 | Spondyloepimetaphyseal dysplasia, Shohat type | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | DHX37 CL E G H | 57647 | 17210 | OMIM:618731 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC | | | | 2 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | DLL3 CL E G H | 10683 | 2909 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | | | | 45 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | DLL3 CL E G H | 10683 | 2909 | OMIM:277300 | Spondylocostal dysostosis, autosomal recessive 1 | | | | 45 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | DOK7 CL E G H | 285489 | 26594 | OMIM:618389 | FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3 | | | | 91 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | DONSON CL E G H | 29980 | 2993 | OMIM:251230 | Microcephaly-Micromelia syndrome | | | | 9 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | | | | 144 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 14 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 14 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 5 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | DVL3 CL E G H | 1857 | 3087 | OMIM:616894 | ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3 | | | | 5 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | HP:0040283 - Occasional | | | 134 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | | | | 51 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ECEL1 CL E G H | 9427 | 3147 | OMIM:615065 | Arthrogryposis, distal, type 5D | | | | 37 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | | | | 27 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | | | | 107 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | EP300 CL E G H | 2033 | 3373 | ORPHA:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | HP:0040283 - Occasional | | | 250 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:1466 | COFS syndrome | | | | 20 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:1466 | COFS syndrome | | | | 106 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:1466 | COFS syndrome | | | | 83 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:1466 | COFS syndrome | | | | 199 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ERMARD CL E G H | 55780 | 21056 | ORPHA:75857 | 6q terminal deletion syndrome | | | | 36 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | | | | 92 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | | | | 92 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | EXOC6B CL E G H | 23233 | 17085 | OMIM:618395 | Spondyloepimetaphyseal dysplasia with joint laxity, type 3 | | | | 3 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FAM20C CL E G H | 56975 | 22140 | ORPHA:1832 | Lethal osteosclerotic bone dysplasia | | | | 35 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | | | | 35 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FANCB CL E G H | 2187 | 3583 | OMIM:300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | | | | 58 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | | | | 157 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FANCL CL E G H | 55120 | 20748 | OMIM:614083 | Fanconi anemia, complementation group L | | | | 53 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FBN2 CL E G H | 2201 | 3604 | OMIM:121050 | Contractural arachnodactyly, congenital | | | | 655 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FGD1 CL E G H | 2245 | 3663 | ORPHA:915 | Aarskog-Scott syndrome | HP:0040283 - Occasional | | | 62 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FGD1 CL E G H | 2245 | 3663 | OMIM:305400 | Aarskog-Scott syndrome | | | | 62 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:166250 | Osteoglophonic dysplasia | | | | 172 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123500 | Crouzon syndrome | . | | | 175 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:603956 | Cervical cancer | . | | | 145 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187600 | Thanatophoric dysplasia, type I | | | | 145 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300718 | Myopathy, reducing body, X-linked, childhood-onset | | | | 68 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300696 | Myopathy, X-linked, with postural muscle atrophy | | | | 68 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | | | | 68 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 157 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | | | | 8 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:56305 | Atelosteogenesis type III | | | | 233 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | | | | 233 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:108721 | Atelosteogenesis, type III | | | | 233 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:503 | Larsen syndrome | HP:0040283 - Occasional | | | 233 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | | | | 233 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | | | | 233 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FN1 CL E G H | 2335 | 3778 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | | | | 9 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FTO CL E G H | 79068 | 24678 | OMIM:612938 | Growth retardation, developmental delay, coarse facies, and earlydeath | | | | 70 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FUCA1 CL E G H | 2517 | 4006 | OMIM:230000 | FUCOSIDOSIS | | | | 43 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GALNS CL E G H | 2588 | 4122 | OMIM:253000 | Morquio syndrome A | | | | 123 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | | | | 29 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251071 | 8p23.1 microdeletion syndrome | | | | 87 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GDF3 CL E G H | 9573 | 4218 | ORPHA:2345 | Isolated Klippel-Feil syndrome | | | | 7 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GDF6 CL E G H | 392255 | 4221 | ORPHA:2345 | Isolated Klippel-Feil syndrome | | | | 64 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GDF6 CL E G H | 392255 | 4221 | OMIM:118100 | Klippel-Feil syndrome 1, autosomal dominant | | | | 64 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230500 | GM1-gangliosidosis, type I | | | | 120 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:253010 | Mucopolysaccharidosis type IVB (Morquio) | | | | 120 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | | | | 45 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GLE1 CL E G H | 2733 | 4315 | OMIM:253310 | Lethal congenital contracture syndrome 1 | | | | 45 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GLE1 CL E G H | 2733 | 4315 | ORPHA:1486 | Lethal congenital contracture syndrome type 1 | | | | 45 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 173 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 34 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | | | | 101 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | | | | 101 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | | | | 101 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:103580 | Pseudohypoparathyroidism, type IA | | | | 101 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:612462 | Pseudohypoparathyroidism, type IC | | | | 101 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:612463 | PSEUDOPSEUDOHYPOPARATHYROIDISM | | | | 101 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GNPTG CL E G H | 84572 | 23026 | OMIM:252605 | Mucolipidosis III gamma | | | | 57 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | 73 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GPC6 CL E G H | 10082 | 4454 | OMIM:258315 | Omodysplasia 1 | | | | 99 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GPKOW CL E G H | 27238 | 30677 | ORPHA:2570 | Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GPX4 CL E G H | 2879 | 4556 | OMIM:250220 | Spondylometaphyseal dysplasia, Sedaghatian type | | | | 3 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GUSB CL E G H | 2990 | 4696 | ORPHA:584 | Mucopolysaccharidosis type 7 | | | | 54 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | | | | 54 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | GZF1 CL E G H | 64412 | 15808 | OMIM:617662 | Joint laxity, short stature, and myopia | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | HBA1 CL E G H | 3039 | 4823 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | | | | 200 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | HBA2 CL E G H | 3040 | 4824 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | | | | 88 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | | | | 33 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | | | | 37 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | | | | 37 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | HES7 CL E G H | 84667 | 15977 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | | | | 10 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 21 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 21 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | | | | 113 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | | | | 113 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | HSPA9 CL E G H | 3313 | 5244 | OMIM:616854 | Even-Plus syndrome | | | | 6 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1865 | Dyssegmental dysplasia, Silverman-Handmaker type | | | | 345 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | | | | 345 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | | | | 345 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | HTRA1 CL E G H | 5654 | 9476 | ORPHA:199354 | Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy | | | | 34 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | | | | 86 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | | | | 115 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | | | | 115 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607016 | Scheie syndrome | | | | 115 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:110 | Bardet-Biedl syndrome | | | | 48 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | IFT27 CL E G H | 11020 | 18626 | ORPHA:110 | Bardet-Biedl syndrome | | | | 1 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | IFT74 CL E G H | 80173 | 21424 | ORPHA:110 | Bardet-Biedl syndrome | | | | 3 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | IGBP1 CL E G H | 3476 | 5461 | ORPHA:52055 | Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | | | | 5 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | IGBP1 CL E G H | 3476 | 5461 | OMIM:300472 | CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA | | | | 5 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 65 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619750 | IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94 | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | INPPL1 CL E G H | 3636 | 6080 | OMIM:258480 | OPSISMODYSPLASIA | | | | 18 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:3144 | Schneckenbecken dysplasia | | | | 18 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | INTS1 CL E G H | 26173 | 24555 | OMIM:618571 | NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | INTU CL E G H | 27152 | 29239 | OMIM:617925 | Short-Rib thoracic dysplasia 20 with polydactyly | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 13 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | KCNJ8 CL E G H | 3764 | 6269 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | | | | 23 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 7 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616546 | Short-Rib thoracic dysplasia 14 with polydactyly | | | | 24 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:607131 | Al-Gazali-Bakalinova syndrome | | | | 167 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | | | | 13 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | KNSTRN CL E G H | 90417 | 30767 | OMIM:613328 | Roifman-Chitayat syndrome | | | | 1 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 196 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:600268 | Oculoectodermal syndrome | | | | 196 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 136 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | LFNG CL E G H | 3955 | 6560 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | | | | 13 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | LHX3 CL E G H | 8022 | 6595 | OMIM:221750 | Deafness, sensorineural, with pituitary dwarfism | | | | 51 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 51 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:231720 | Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome | | | | 51 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 43 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 43 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | | | | 144 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | | | | 11 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | | | | 165 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | LZTFL1 CL E G H | 54585 | 6741 | ORPHA:110 | Bardet-Biedl syndrome | | | | 4 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:616564 | Noonan syndrome 10 | | | | 43 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | LZTR1 CL E G H | 8216 | 6742 | OMIM:605275 | Noonan syndrome 2 | | | | 43 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | | | | 63 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | | | | 93 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MAN1B1 CL E G H | 11253 | 6823 | OMIM:614202 | Rafiq syndrome | | | | 93 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | | | | 136 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 134 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:615279 | Cardiofaciocutaneous syndrome 3 | | | | 134 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | | | | 134 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 178 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | | | | 4 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | | | | 950 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:305450 | Opitz-Kaveggia syndrome | | | | 228 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MED13L CL E G H | 23389 | 22962 | ORPHA:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | | | | 74 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MED13L CL E G H | 23389 | 22962 | OMIM:616789 | Mental retardation and distinctive facial features with or without cardiac defects | | | | 74 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MEOX1 CL E G H | 4222 | 7013 | ORPHA:2345 | Isolated Klippel-Feil syndrome | | | | 5 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MEOX1 CL E G H | 4222 | 7013 | OMIM:214300 | Klippel-Feil syndrome, autosomal recessive | | | | 5 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MESP2 CL E G H | 145873 | 29659 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | | | | 45 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MESP2 CL E G H | 145873 | 29659 | OMIM:608681 | Spondylocostal dysostosis 2, autosomal recessive | | | | 45 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MESP2 CL E G H | 145873 | 29659 | OMIM:277300 | Spondylocostal dysostosis, autosomal recessive 1 | | | | 45 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | | | | 39 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MKKS CL E G H | 8195 | 7108 | ORPHA:110 | Bardet-Biedl syndrome | | | | 69 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:110 | Bardet-Biedl syndrome | | | | 127 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MMP2 CL E G H | 4313 | 7166 | OMIM:259600 | Multicentric osteolysis, nodulosis, and arthropathy | | | | 64 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:3319 | Congenital amegakaryocytic thrombocytopenia | | | | 97 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MRPL12 CL E G H | 6182 | 10378 | OMIM:618951 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45 | | | | 11 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MRPS28 CL E G H | 28957 | 14513 | OMIM:618958 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47 | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MSL3 CL E G H | 10943 | 7370 | OMIM:301032 | BASILICATA-AKHTAR SYNDROME; MRXSBA | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MUSK CL E G H | 4593 | 7525 | OMIM:208150 | Fetal akinesia deformation sequence | | | | 72 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | | | | 166 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:178110 | Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A | | | | 166 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:618469 | CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B | | | | 166 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:1147 | Sheldon-Hall syndrome | | | | 166 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MYL11 CL E G H | 29895 | 29824 | OMIM:619110 | ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | MYO18B CL E G H | 84700 | 18150 | OMIM:616549 | Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | | | | 5 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | NALCN CL E G H | 259232 | 19082 | OMIM:616266 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | | | | 48 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | | | | 48 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:1147 | Sheldon-Hall syndrome | | | | 48 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | NANS CL E G H | 54187 | 19237 | OMIM:610442 | Spondyloepimetaphyseal dysplasia, Genevieve type | | | | 8 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | NBAS CL E G H | 51594 | 15625 | OMIM:614800 | Short stature, optic nerve atrophy, and pelger-huet anomaly | | | | 25 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | NBN CL E G H | 4683 | 7652 | ORPHA:647 | Nijmegen breakage syndrome | | | | 706 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | | | | 745 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | | | | 9 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:601321 | Neurofibromatosis-Noonan syndrome | | | | 1952 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | | | | 494 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | | | | 494 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | NKX3-2 CL E G H | 579 | 951 | OMIM:613330 | Spondylo-Megaepiphyseal-Metaphyseal dysplasia | | | | 10 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | NLRP1 CL E G H | 22861 | 14374 | OMIM:615225 | Palmoplantar carcinoma, multiple self-healing | | | | 37 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | | | | 138 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:102500 | Hajdu-Cheney syndrome | | | | 138 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:130720 | Lateral meningocele syndrome | | | | 144 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:2789 | Lateral meningocele syndrome | | | | 144 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:110 | Bardet-Biedl syndrome | | | | 85 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:613224 | Noonan syndrome 6 | | | | 102 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | NUP188 CL E G H | 23511 | 17859 | OMIM:618804 | SANDESTIG-STEFANOVA SYNDROME; SANDSTEF | | | | 4 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | NUP88 CL E G H | 4927 | 8067 | OMIM:618393 | Fetal akinesia deformation sequence 4 | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 2 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | OBSL1 CL E G H | 23363 | 29092 | OMIM:612921 | 3-M syndrome 2 | | | | 143 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | OBSL1 CL E G H | 23363 | 29092 | ORPHA:2616 | 3M syndrome | | | | 143 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | | | | 201 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | OTUD6B CL E G H | 51633 | 24281 | ORPHA:505237 | Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome | | | | 4 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | OTUD6B CL E G H | 51633 | 24281 | OMIM:617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | | | | 4 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 41 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:217385 | 17p13.3 microduplication syndrome | | | | 231 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PAICS CL E G H | 10606 | 8587 | OMIM:619859 | | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PALB2 CL E G H | 79728 | 26144 | OMIM:610832 | Fanconi anemia, complementation group N | | | | 1349 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PAM16 CL E G H | 51025 | 29679 | OMIM:613320 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type | | | | 1 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PGAP1 CL E G H | 80055 | 25712 | OMIM:615802 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 | | | | 20 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 8 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 20 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | | | | 37 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:114300 | Arthrogryposis, distal, type 3 | | | | 77 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:248700 | Marden-Walker syndrome | | | | 77 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | | | | 46 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 36 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | | | | 37 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | | | 37 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 84 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 57 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 6 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | | | | 2 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | | | | 2 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:613328 | Roifman-Chitayat syndrome | | | | 9 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PKDCC CL E G H | 91461 | 25123 | OMIM:618821 | RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PLXNA1 CL E G H | 5361 | 9099 | OMIM:619955 | | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | | | | 35 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | POLE CL E G H | 5426 | 9177 | OMIM:618336 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | | | | 1129 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 213 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 221 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | POP1 CL E G H | 10940 | 30129 | OMIM:617396 | Anauxetic dysplasia 2 | | | | 6 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 36 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 36 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | | | | 2 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PRMT7 CL E G H | 54496 | 25557 | OMIM:617157 | Short stature, brachydactyly, intellectual developmental disability, and seizures | | | | 6 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PRMT7 CL E G H | 54496 | 25557 | ORPHA:464288 | Short stature-brachydactyly-obesity-global developmental delay syndrome | | | | 6 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 54 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 54 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PSAT1 CL E G H | 29968 | 19129 | OMIM:616038 | Neu-Laxova syndrome 2 | | | | 27 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | | | | 27 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PSMD12 CL E G H | 5718 | 9557 | ORPHA:529962 | 17q24.2 microdeletion syndrome | | | | 4 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:77301 | Monosomy 9q22.3 | | | | 665 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:151100 | Leopard syndrome 1 | | | | 291 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | | | | 291 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 3 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | | | | 19 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | | | | 19 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | PUF60 CL E G H | 22827 | 17042 | OMIM:615583 | Verheij syndrome | | | | 19 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RAB33B CL E G H | 83452 | 16075 | OMIM:615222 | Smith-Mccort dysplasia 2 | | | | 53 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RAB5IF CL E G H | 55969 | 15870 | OMIM:616994 | | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | | | | 25 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611554 | LEOPARD SYNDROME 2; LPRD2 | | | | 212 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611553 | Noonan syndrome 5 | | | | 212 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RB1 CL E G H | 5925 | 9884 | ORPHA:1587 | Monosomy 13q14 | | | | 365 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RDH11 CL E G H | 51109 | 17964 | ORPHA:436245 | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | | | | 2 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RFT1 CL E G H | 91869 | 30220 | OMIM:612015 | Congenital disorder of glycosylation, type IN | | | | 92 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RIPPLY2 CL E G H | 134701 | 21390 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | | | | 3 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RIPPLY2 CL E G H | 134701 | 21390 | OMIM:616566 | Spondylocostal dysostosis 6, autosomal recessive | | | | 3 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RIT1 CL E G H | 6016 | 10023 | OMIM:615355 | NOONAN SYNDROME 8; NS8 | | | | 39 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:607095 | Anauxetic dysplasia | | | | 37 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | | | | 37 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | | | | 15 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ROBO3 CL E G H | 64221 | 13433 | ORPHA:2744 | Horizontal gaze palsy with progressive scoliosis | | | | 90 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 120 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | | | | 11 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | | | | 40 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | | | | 26 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | | | | 5 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | | | | 42 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | | | | 42 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | | | | 22 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | | | | 3 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | | | | 20 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | | | | 2 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RSPRY1 CL E G H | 89970 | 29420 | OMIM:616723 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | | | | 2 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:619542 | KING-DENBOROUGH SYNDROME; KDS | | | | 1200 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | | | | 86 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | | | | 34 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SCAPER CL E G H | 49855 | 13081 | ORPHA:110 | Bardet-Biedl syndrome | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SCYL2 CL E G H | 55681 | 19286 | OMIM:618766 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4 | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:110 | Bardet-Biedl syndrome | | | | 61 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SEMA5A CL E G H | 9037 | 10736 | ORPHA:281 | Monosomy 5p | | | | 6 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | | | | 143 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | . | | | 49 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SHOX CL E G H | 6473 | 10853 | ORPHA:314795 | SHOX-related short stature | | | | 66 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | | | | 150 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93298 | Achondrogenesis type 1B | | | | 166 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | | | | 166 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:256050 | Atelosteogenesis, type II | | | | 166 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:222600 | Diastrophic dysplasia | | | | 166 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:628 | Diastrophic dysplasia | | | | 166 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | | | | 166 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:168577 | Hereditary cryohydrocytosis with reduced stomatin | | | | 255 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SLC35D1 CL E G H | 23169 | 20800 | OMIM:269250 | Schneckenbecken dysplasia | | | | 9 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SLC35D1 CL E G H | 23169 | 20800 | ORPHA:3144 | Schneckenbecken dysplasia | | | | 9 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:139210 | Myhre syndrome | | | | 504 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | | | | 74 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | | | | 74 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | | | | 135 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:300590 | Cornelia de Lange syndrome 2 | | | | 135 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | | | | 91 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SMC3 CL E G H | 9126 | 2468 | OMIM:610759 | Cornelia de Lange syndrome 3 | | | | 91 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | | | | 19 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | | | | 37 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SOS1 CL E G H | 6654 | 11187 | OMIM:610733 | Noonan syndrome 4 | | | | 315 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SOS2 CL E G H | 6655 | 11188 | OMIM:616559 | NOONAN SYNDROME 9; NS9 | | | | 30 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:140 | Campomelic dysplasia | | | | 109 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SPRED1 CL E G H | 161742 | 20249 | OMIM:611431 | Legius syndrome | | | | 136 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SPRED2 CL E G H | 200734 | 17722 | OMIM:619745 | NOONAN SYNDROME 14; NS14 | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | | | | 138 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | | | | 138 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85408 | Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 2 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | STX16 CL E G H | 8675 | 11431 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | | | | 86 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | STXBP1 CL E G H | 6812 | 11444 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | | | | 237 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TALDO1 CL E G H | 6888 | 11559 | OMIM:606003 | Transaldolase deficiency | | | | 34 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TAPT1 CL E G H | 202018 | 26887 | OMIM:616897 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | | | | 2 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | | | | 13 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:487825 | Pierpont syndrome | | | | 22 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | | | | 22 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TBR1 CL E G H | 10716 | 11590 | ORPHA:1617 | 2q24 microdeletion syndrome | | | | 1 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TBX15 CL E G H | 6913 | 11594 | ORPHA:93333 | Pelviscapular dysplasia | | | | 5 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TBX6 CL E G H | 6911 | 11605 | ORPHA:1797 | Autosomal dominant spondylocostal dysostosis | | | | 19 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TBX6 CL E G H | 6911 | 11605 | OMIM:122600 | Spondylocostal dysostosis 5 | | | | 19 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | | | | 241 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TCTN2 CL E G H | 79867 | 25774 | OMIM:613885 | Meckel syndrome, type 8 | | | | 76 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TECPR2 CL E G H | 9895 | 19957 | ORPHA:320385 | Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | | | | 39 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TECPR2 CL E G H | 9895 | 19957 | OMIM:615031 | Spastic paraplegia 49, autosomal recessive | | | | 39 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TGDS CL E G H | 23483 | 20324 | OMIM:616145 | Catel-Manzke syndrome | | | | 6 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TGFBR1 CL E G H | 7046 | 11772 | OMIM:609192 | Loeys-Dietz syndrome 1 | | | | 239 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | THPO CL E G H | 7066 | 11795 | ORPHA:3319 | Congenital amegakaryocytic thrombocytopenia | | | | 23 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TIMM50 CL E G H | 92609 | 23656 | OMIM:617698 | 3-methylglutaconic aciduria, type IX | | | | 1 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TMCO1 CL E G H | 54499 | 18188 | ORPHA:1394 | Cerebrofaciothoracic dysplasia | | | | 6 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TNNI2 CL E G H | 7136 | 11946 | ORPHA:1147 | Sheldon-Hall syndrome | | | | 37 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TNNT3 CL E G H | 7140 | 11950 | ORPHA:1147 | Sheldon-Hall syndrome | | | | 43 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:1147 | Sheldon-Hall syndrome | | | | 54 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | | | | 54 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TRAPPC2 CL E G H | 6399 | 23068 | ORPHA:93284 | Spondyloepiphyseal dysplasia tarda | | | | 46 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TRAPPC2 CL E G H | 6399 | 23068 | OMIM:313400 | Spondyloepiphyseal dysplasia tarda, X-linked | | | | 46 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TRAPPC9 CL E G H | 83696 | 30832 | OMIM:613192 | Mental retardation, autosomal recessive 13 | | | | 158 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TRIM32 CL E G H | 22954 | 16380 | ORPHA:110 | Bardet-Biedl syndrome | | | | 108 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TRIP11 CL E G H | 9321 | 12305 | ORPHA:93299 | Achondrogenesis type 1A | | | | 133 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:200600 | Achondrogenesis, type IA | | | | 133 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TRMT10A CL E G H | 93587 | 28403 | OMIM:616033 | Microcephaly, short stature, and impaired glucose metabolism 1 | | | | 7 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | | | | 7 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:113500 | Brachyolmia type 3 | | | | 214 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:2635 | Metatropic dysplasia | | | | 214 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:168400 | Parastremmatic dwarfism | | | | 214 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:184252 | Spondylometaphyseal dysplasia, Kozlowski type | | | | 214 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:93314 | Spondylometaphyseal dysplasia, Kozlowski type | | | | 214 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | | | | 1 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TTC8 CL E G H | 123016 | 20087 | ORPHA:110 | Bardet-Biedl syndrome | | | | 41 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | | | | 14 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | UNC80 CL E G H | 285175 | 26582 | OMIM:616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | | | | 23 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | | | | 23 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | | | | 1 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | | | | 20 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | | | | 83 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | WDPCP CL E G H | 51057 | 28027 | ORPHA:110 | Bardet-Biedl syndrome | | | | 60 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | | | | 136 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | WNT4 CL E G H | 54361 | 12783 | ORPHA:247768 | Müllerian aplasia and hyperandrogenism | | | | 4 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | | | | 98 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 98 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | WNT7A CL E G H | 7476 | 12786 | ORPHA:2879 | Phocomelia, Schinzel type | | | | 13 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | | | | 13 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | XYLT1 CL E G H | 64131 | 15516 | OMIM:615777 | Desbuquois dysplasia 2 | | | | 14 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | XYLT1 CL E G H | 64131 | 15516 | ORPHA:1425 | Desbuquois syndrome | | | | 14 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | XYLT2 CL E G H | 64132 | 15517 | ORPHA:85194 | Spondylo-ocular syndrome | | | | 5 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | YWHAE CL E G H | 7531 | 12851 | ORPHA:217385 | 17p13.3 microduplication syndrome | | | | 14 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | | | | 19 | | |
HP:0003319 | HP:0003319 | Abnormality of the cervical spine | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0003319 | HP:0008483 | Cervical vertebral bodies with decreased anteroposterior diameter | 1 | CL E G H | | | | | | | | | | |
HP:0003319 | HP:0005878 | Enlarged sagittal diameter of the cervical canal | 1 | CL E G H | | | | | | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | . | | | 254 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ABCC9 CL E G H | 10060 | 60 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | HP:0040282 - Frequent | | | 254 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ACAN CL E G H | 176 | 319 | OMIM:612813 | Spondyloepimetaphyseal dysplasia, Aggrecan type | | | | 34 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ACAN CL E G H | 176 | 319 | ORPHA:171866 | Spondyloepimetaphyseal dysplasia, aggrecan type | HP:0040281 - Very frequent | | | 34 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040282 - Frequent | | | 72 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | . | | | 72 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040282 - Frequent | | | 123 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ACTG1 CL E G H | 71 | 144 | OMIM:614583 | Baraitser-Winter syndrome 2 | HP:0040283 - Occasional | | | 123 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 22 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | AEBP1 CL E G H | 165 | 303 | OMIM:618000 | Ehlers-Danlos syndrome, classic-like, 2 | . | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | . | | | 60 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ALDOA CL E G H | 226 | 414 | OMIM:611881 | Glycogen storage disease XII | . | | | 50 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ALG8 CL E G H | 79053 | 23161 | OMIM:608104 | Congenital disorder of glycosylation, type Ih | . | | | 46 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | . | | | 93 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ALG9 CL E G H | 79796 | 15672 | OMIM:263210 | Gillessen-Kaesbach-Nishimura syndrome | | | | 93 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ANKRD11 CL E G H | 29123 | 21316 | ORPHA:2332 | KBG syndrome | HP:0040282 - Frequent | | | 102 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ANKRD11 CL E G H | 29123 | 21316 | OMIM:148050 | Kbg syndrome | | | | 102 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ANTXR2 CL E G H | 118429 | 21732 | ORPHA:2176 | Infantile systemic hyalinosis | HP:0040281 - Very frequent | | | 49 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | HP:0040283 - Occasional | | | 3179 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ARL6 CL E G H | 84100 | 13210 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 29 | | |
HP:0003319 | HP:0010646 | Cervical spine instability | 1 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | HP:0040283 - Occasional | | | | | |
HP:0003319 | HP:0003308 | Cervical subluxation | 1 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | | | | | | |
HP:0003319 | HP:0008440 | C1-C2 vertebral abnormality | 1 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | | | | | | |
HP:0003319 | HP:0046508 | Abnormal cervical spine morphology | 1 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:616455 | Zimmermann-Laband syndrome 2 | . | | | 5 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ATRX CL E G H | 546 | 886 | OMIM:309580 | Mental retardation-hypotonic facies syndrome, X-linked, 1 | . | | | 169 | | |
HP:0003319 | HP:0010646 | Cervical spine instability | 1 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 38 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | . | | | 38 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | . | | | 5 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | BAP1 CL E G H | 8314 | 950 | OMIM:619762 | KURY-ISIDOR SYNDROME; KURIS | | | | 184 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | BBIP1 CL E G H | 92482 | 28093 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | BBS1 CL E G H | 582 | 966 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | BBS10 CL E G H | 79738 | 26291 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 118 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | BBS12 CL E G H | 166379 | 26648 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 71 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | BBS2 CL E G H | 583 | 967 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 97 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | BBS4 CL E G H | 585 | 969 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | BBS5 CL E G H | 129880 | 970 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 25 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | BBS7 CL E G H | 55212 | 18758 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 66 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | BBS9 CL E G H | 27241 | 30000 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 119 | | |
HP:0003319 | HP:0010646 | Cervical spine instability | 1 | BGN CL E G H | 633 | 1044 | OMIM:300989 | Meester-Loeys syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | . | | | 78 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | BMPER CL E G H | 168667 | 24154 | ORPHA:66637 | Diaphanospondylodysostosis | HP:0040281 - Very frequent | | | 78 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | BPTF CL E G H | 2186 | 3581 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 276 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | | | | 276 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | BRAF CL E G H | 673 | 1097 | OMIM:613706 | Noonan syndrome 7 | | | | 276 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | BRF1 CL E G H | 2972 | 11551 | OMIM:616202 | Cerebellofaciodental syndrome | . | | | 7 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | . | | | 76 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | HP:0040282 - Frequent | | | 27 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | CANT1 CL E G H | 124583 | 19721 | ORPHA:1425 | Desbuquois syndrome | HP:0040281 - Very frequent | | | 85 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | CBL CL E G H | 867 | 1541 | OMIM:613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | . | | | 317 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | CCDC8 CL E G H | 83987 | 25367 | ORPHA:2616 | 3M syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | CCDC8 CL E G H | 83987 | 25367 | OMIM:614205 | THREE M SYNDROME 3; 3M3 | | | | 5 | | |
HP:0003319 | HP:0004637 | Decreased cervical spine mobility | 1 | CCN6 CL E G H | 8838 | 12771 | OMIM:208230 | Arthropathy, progressive pseudorheumatoid, of childhood | . | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | HP:0040281 - Very frequent | | | 83 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | CDK5 CL E G H | 1020 | 1774 | OMIM:616342 | Lissencephaly 7 with cerebellar hypoplasia | . | | | 3 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | CEP19 CL E G H | 84984 | 28209 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | CEP290 CL E G H | 80184 | 29021 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 342 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | CEP55 CL E G H | 55165 | 1161 | OMIM:236500 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | | | | 2 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | CFL2 CL E G H | 1073 | 1875 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 35 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0003319 | HP:0046508 | Abnormal cervical spine morphology | 1 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | | | | 74 | | |
HP:0003319 | HP:0046508 | Abnormal cervical spine morphology | 1 | CHRND CL E G H | 1144 | 1965 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | | | | 88 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | | | | 68 | | |
HP:0003319 | HP:0046508 | Abnormal cervical spine morphology | 1 | CHRNG CL E G H | 1146 | 1967 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | | | | 68 | | |
HP:0003319 | HP:0046508 | Abnormal cervical spine morphology | 1 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | | | | 27 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | . | | | 165 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | . | | | 165 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | CLDN11 CL E G H | 5010 | 8514 | OMIM:619328 | Leukodystrophy, hypomyelinating, 22 | | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | HP:0040282 - Frequent | | | 52 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | . | | | 52 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | HP:0040283 - Occasional | | | 79 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | COG7 CL E G H | 91949 | 18622 | ORPHA:79333 | COG7-CDG | | | | 64 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | . | | | 64 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:2021 | Fibrochondrogenesis | HP:0040281 - Very frequent | | | 215 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | . | | | 215 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:2021 | Fibrochondrogenesis | HP:0040281 - Very frequent | | | 222 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:1427 | Otospondylomegaepiphyseal dysplasia | HP:0040283 - Occasional | | | 222 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 65 | | |
HP:0003319 | HP:0010646 | Cervical spine instability | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:485 | Kniest dysplasia | HP:0040282 - Frequent | | | 284 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | . | | | 284 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:485 | Kniest dysplasia | HP:0040283 - Occasional | | | 284 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:151210 | Platyspondylic lethal skeletal dysplasia, Torrance type | . | | | 284 | | |
HP:0003319 | HP:0008440 | C1-C2 vertebral abnormality | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184250 | Spondyloepimetaphyseal dysplasia, Strudwick type | | | | 284 | | |
HP:0003319 | HP:0003308 | Cervical subluxation | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184250 | Spondyloepimetaphyseal dysplasia, Strudwick type | | | | 284 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:94068 | Spondyloepiphyseal dysplasia congenita | HP:0040282 - Frequent | | | 284 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:183900 | Spondyloepiphyseal dysplasia congenita | . | | | 284 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040284 - Very rare | | | 284 | | |
HP:0003319 | HP:0008440 | C1-C2 vertebral abnormality | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040284 - Very rare | | | 284 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 442 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 478 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 702 | | |
HP:0003319 | HP:0010646 | Cervical spine instability | 1 | COMP CL E G H | 1311 | 2227 | ORPHA:750 | Pseudoachondroplasia | HP:0040284 - Very rare | | | 89 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | CRLF1 CL E G H | 9244 | 2364 | OMIM:272430 | Crisponi/cold-induced sweating syndrome 1 | . | | | 24 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | CSGALNACT1 CL E G H | 55790 | 24290 | ORPHA:1425 | Desbuquois syndrome | HP:0040281 - Very frequent | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | CTNND2 CL E G H | 1501 | 2516 | ORPHA:281 | Monosomy 5p | HP:0040282 - Frequent | | | 15 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | CUL4B CL E G H | 8450 | 2555 | ORPHA:85293 | X-linked intellectual disability, Cabezas type | HP:0040281 - Very frequent | | | 38 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | CUL7 CL E G H | 9820 | 21024 | OMIM:273750 | 3-M syndrome 1 | . | | | 127 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | CUL7 CL E G H | 9820 | 21024 | ORPHA:2616 | 3M syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | DCC CL E G H | 1630 | 2701 | ORPHA:2744 | Horizontal gaze palsy with progressive scoliosis | HP:0040282 - Frequent | | | 36 | | |
HP:0003319 | HP:0008440 | C1-C2 vertebral abnormality | 1 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | | | | 45 | | |
HP:0003319 | HP:0003308 | Cervical subluxation | 1 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | | | | 45 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | DDRGK1 CL E G H | 65992 | 16110 | ORPHA:93352 | Spondyloepimetaphyseal dysplasia, Shohat type | HP:0040283 - Occasional | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | DDRGK1 CL E G H | 65992 | 16110 | OMIM:602557 | Spondyloepimetaphyseal dysplasia, Shohat type | . | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040282 - Frequent | | | 159 | | |
HP:0003319 | HP:0046508 | Abnormal cervical spine morphology | 1 | DHX37 CL E G H | 57647 | 17210 | OMIM:618731 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC | | | | 2 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | 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:0003319 | HP:0000470 | Short neck | 1 | DLL3 CL E G H | 10683 | 2909 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040281 - Very frequent | | | 45 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | DLL3 CL E G H | 10683 | 2909 | OMIM:277300 | Spondylocostal dysostosis, autosomal recessive 1 | | | | 45 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | DOK7 CL E G H | 285489 | 26594 | OMIM:618389 | FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3 | | | | 91 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | DONSON CL E G H | 29980 | 2993 | OMIM:251230 | Microcephaly-Micromelia syndrome | . | | | 9 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | HP:0040283 - Occasional | | | 144 | | |
HP:0003319 | HP:0046508 | Abnormal cervical spine morphology | 1 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | | | | 13 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 14 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | DVL3 CL E G H | 1857 | 3087 | OMIM:616894 | ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3 | | | | 5 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | HP:0040282 - Frequent | | | 65 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | | | | 65 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | . | | | 51 | | |
HP:0003319 | HP:0046508 | Abnormal cervical spine morphology | 1 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ECEL1 CL E G H | 9427 | 3147 | OMIM:615065 | Arthrogryposis, distal, type 5D | . | | | 37 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | EFNB1 CL E G H | 1947 | 3226 | OMIM:304110 | Craniofrontonasal syndrome | . | | | 27 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | EMD CL E G H | 2010 | 3331 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 107 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:1466 | COFS syndrome | HP:0040282 - Frequent | | | 20 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:1466 | COFS syndrome | HP:0040282 - Frequent | | | 106 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:1466 | COFS syndrome | HP:0040282 - Frequent | | | 83 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:1466 | COFS syndrome | HP:0040282 - Frequent | | | 199 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ERMARD CL E G H | 55780 | 21056 | ORPHA:75857 | 6q terminal deletion syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:3103 | Roberts syndrome | HP:0040283 - Occasional | | | 92 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | . | | | 92 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | EXOC6B CL E G H | 23233 | 17085 | OMIM:618395 | Spondyloepimetaphyseal dysplasia with joint laxity, type 3 | . | | | 3 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | . | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | FAM20C CL E G H | 56975 | 22140 | ORPHA:1832 | Lethal osteosclerotic bone dysplasia | HP:0040281 - Very frequent | | | 35 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | . | | | 35 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | FANCB CL E G H | 2187 | 3583 | OMIM:300514 | FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB | | | | 58 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | . | | | 157 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | FANCL CL E G H | 55120 | 20748 | OMIM:614083 | Fanconi anemia, complementation group L | HP:0040283 - Occasional | | | 53 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | FBN2 CL E G H | 2201 | 3604 | OMIM:121050 | Contractural arachnodactyly, congenital | . | | | 655 | | |
HP:0003319 | HP:0003318 | Cervical spine hypermobility | 1 | FGD1 CL E G H | 2245 | 3663 | OMIM:305400 | Aarskog-Scott syndrome | . | | | 62 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | FGD1 CL E G H | 2245 | 3663 | OMIM:305400 | Aarskog-Scott syndrome | | | | 62 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | FGD1 CL E G H | 2245 | 3663 | ORPHA:915 | Aarskog-Scott syndrome | HP:0040283 - Occasional | | | 62 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:166250 | Osteoglophonic dysplasia | . | | | 172 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187600 | Thanatophoric dysplasia, type I | | | | 145 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | FHL1 CL E G H | 2273 | 3702 | OMIM:300718 | Myopathy, reducing body, X-linked, childhood-onset | . | | | 68 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | FHL1 CL E G H | 2273 | 3702 | OMIM:300696 | Myopathy, X-linked, with postural muscle atrophy | . | | | 68 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | FHL1 CL E G H | 2273 | 3702 | ORPHA:98863 | X-linked Emery-Dreifuss muscular dystrophy | HP:0040282 - Frequent | | | 68 | | |
HP:0003319 | HP:0004637 | Decreased cervical spine mobility | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 157 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0003319 | HP:0046508 | Abnormal cervical spine morphology | 1 | FLNB CL E G H | 2317 | 3755 | ORPHA:56305 | Atelosteogenesis type III | | | | 233 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:108720 | Atelosteogenesis, type I | . | | | 233 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:108721 | Atelosteogenesis, type III | . | | | 233 | | |
HP:0003319 | HP:0046508 | Abnormal cervical spine morphology | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:108721 | Atelosteogenesis, type III | | | | 233 | | |
HP:0003319 | HP:0046508 | Abnormal cervical spine morphology | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | | | | 233 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | . | | | 233 | | |
HP:0003319 | HP:0003308 | Cervical subluxation | 1 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | | | | 233 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | FN1 CL E G H | 2335 | 3778 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040284 - Very rare | | | 9 | | |
HP:0003319 | HP:0008440 | C1-C2 vertebral abnormality | 1 | FN1 CL E G H | 2335 | 3778 | ORPHA:93315 | Spondylometaphyseal dysplasia, 'corner fracture' type | HP:0040284 - Very rare | | | 9 | | |
HP:0003319 | HP:0004637 | Decreased cervical spine mobility | 1 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | FTO CL E G H | 79068 | 24678 | OMIM:612938 | Growth retardation, developmental delay, coarse facies, and earlydeath | . | | | 70 | | |
HP:0003319 | HP:0046508 | Abnormal cervical spine morphology | 1 | FUCA1 CL E G H | 2517 | 4006 | OMIM:230000 | FUCOSIDOSIS | | | | 43 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | | | |
HP:0003319 | HP:0003308 | Cervical subluxation | 1 | GALNS CL E G H | 2588 | 4122 | OMIM:253000 | Morquio syndrome A | . | | | 123 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GALNS CL E G H | 2588 | 4122 | OMIM:253000 | Morquio syndrome A | | | | 123 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 29 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251071 | 8p23.1 microdeletion syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GDF3 CL E G H | 9573 | 4218 | ORPHA:2345 | Isolated Klippel-Feil syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GDF6 CL E G H | 392255 | 4221 | ORPHA:2345 | Isolated Klippel-Feil syndrome | HP:0040281 - Very frequent | | | 64 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GDF6 CL E G H | 392255 | 4221 | OMIM:118100 | Klippel-Feil syndrome 1, autosomal dominant | | | | 64 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GLB1 CL E G H | 2720 | 4298 | OMIM:230500 | GM1-gangliosidosis, type I | . | | | 120 | | |
HP:0003319 | HP:0003308 | Cervical subluxation | 1 | GLB1 CL E G H | 2720 | 4298 | OMIM:253010 | Mucopolysaccharidosis type IVB (Morquio) | . | | | 120 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | . | | | 45 | | |
HP:0003319 | HP:0046508 | Abnormal cervical spine morphology | 1 | GLE1 CL E G H | 2733 | 4315 | OMIM:253310 | Lethal congenital contracture syndrome 1 | | | | 45 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GLE1 CL E G H | 2733 | 4315 | ORPHA:1486 | Lethal congenital contracture syndrome type 1 | HP:0040282 - Frequent | | | 45 | | |
HP:0003319 | HP:0004637 | Decreased cervical spine mobility | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 173 | | |
HP:0003319 | HP:0004637 | Decreased cervical spine mobility | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 34 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040282 - Frequent | | | 101 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040282 - Frequent | | | 101 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040282 - Frequent | | | 101 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:103580 | Pseudohypoparathyroidism, type IA | . | | | 101 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:612462 | Pseudohypoparathyroidism, type IC | . | | | 101 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:612463 | PSEUDOPSEUDOHYPOPARATHYROIDISM | . | | | 101 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GNPTG CL E G H | 84572 | 23026 | OMIM:252605 | Mucolipidosis III gamma | . | | | 57 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | . | | | 69 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040282 - Frequent | | | 73 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040282 - Frequent | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GPC6 CL E G H | 10082 | 4454 | OMIM:258315 | Omodysplasia 1 | . | | | 99 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GPKOW CL E G H | 27238 | 30677 | ORPHA:2570 | Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome | HP:0040282 - Frequent | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GPX4 CL E G H | 2879 | 4556 | OMIM:250220 | Spondylometaphyseal dysplasia, Sedaghatian type | . | | | 3 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GUSB CL E G H | 2990 | 4696 | ORPHA:584 | Mucopolysaccharidosis type 7 | HP:0040283 - Occasional | | | 54 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | . | | | 54 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | GZF1 CL E G H | 64412 | 15808 | OMIM:617662 | Joint laxity, short stature, and myopia | . | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | HBA1 CL E G H | 3039 | 4823 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | HP:0040282 - Frequent | | | 200 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | HBA2 CL E G H | 3040 | 4824 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | HP:0040282 - Frequent | | | 88 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | . | | | 37 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | HES7 CL E G H | 84667 | 15977 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040281 - Very frequent | | | 10 | | |
HP:0003319 | HP:0004637 | Decreased cervical spine mobility | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 21 | | |
HP:0003319 | HP:0004637 | Decreased cervical spine mobility | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 21 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 21 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | . | | | 113 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | HP:0040281 - Very frequent | | | 113 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | HSPA9 CL E G H | 3313 | 5244 | OMIM:616854 | Even-Plus syndrome | | | | 6 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1865 | Dyssegmental dysplasia, Silverman-Handmaker type | HP:0040282 - Frequent | | | 345 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040282 - Frequent | | | 345 | | |
HP:0003319 | HP:0046508 | Abnormal cervical spine morphology | 1 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | | | | 345 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | . | | | 345 | | |
HP:0003319 | HP:0046508 | Abnormal cervical spine morphology | 1 | HTRA1 CL E G H | 5654 | 9476 | ORPHA:199354 | Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy | | | | 34 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | . | | | 86 | | |
HP:0003319 | HP:0008440 | C1-C2 vertebral abnormality | 1 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | | | | 115 | | |
HP:0003319 | HP:0003308 | Cervical subluxation | 1 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | | | | 115 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | . | | | 115 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | HP:0040281 - Very frequent | | | 115 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | IDUA CL E G H | 3425 | 5391 | OMIM:607016 | Scheie syndrome | . | | | 115 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | | | | 148 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | IFT172 CL E G H | 26160 | 30391 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 48 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | IFT27 CL E G H | 11020 | 18626 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | IFT74 CL E G H | 80173 | 21424 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | IGBP1 CL E G H | 3476 | 5461 | ORPHA:52055 | Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | IGBP1 CL E G H | 3476 | 5461 | OMIM:300472 | CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA | | | | 5 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | IL6ST CL E G H | 3572 | 6021 | OMIM:619750 | IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94 | | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | INPPL1 CL E G H | 3636 | 6080 | OMIM:258480 | OPSISMODYSPLASIA | . | | | 18 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | INPPL1 CL E G H | 3636 | 6080 | ORPHA:3144 | Schneckenbecken dysplasia | HP:0040281 - Very frequent | | | 18 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | INTS1 CL E G H | 26173 | 24555 | OMIM:618571 | NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF | | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | INTU CL E G H | 27152 | 29239 | OMIM:617925 | Short-Rib thoracic dysplasia 20 with polydactyly | | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | KCNJ8 CL E G H | 3764 | 6269 | ORPHA:1517 | Hypertrichotic osteochondrodysplasia, Cantu type | HP:0040282 - Frequent | | | 23 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616546 | Short-Rib thoracic dysplasia 14 with polydactyly | . | | | 24 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:607131 | Al-Gazali-Bakalinova syndrome | . | | | 167 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | KIFBP CL E G H | 26128 | 23419 | OMIM:609460 | Goldberg-Shprintzen syndrome | . | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | KNSTRN CL E G H | 90417 | 30767 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 1 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | KRAS CL E G H | 3845 | 6407 | OMIM:600268 | Oculoectodermal syndrome | . | | | 196 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | LAMA5 CL E G H | 3911 | 6485 | OMIM:620076 | | | | | 5 | | |
HP:0003319 | HP:0004637 | Decreased cervical spine mobility | 1 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 136 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | LFNG CL E G H | 3955 | 6560 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040281 - Very frequent | | | 13 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | LHX3 CL E G H | 8022 | 6595 | OMIM:221750 | Deafness, sensorineural, with pituitary dwarfism | . | | | 51 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 51 | | |
HP:0003319 | HP:0004637 | Decreased cervical spine mobility | 1 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 51 | | |
HP:0003319 | HP:0000470 | Short neck | 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:0003319 | HP:0004637 | Decreased cervical spine mobility | 1 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 43 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 43 | | |
HP:0003319 | HP:0004637 | Decreased cervical spine mobility | 1 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 43 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | . | | | 144 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | LMX1B CL E G H | 4010 | 6654 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | LZTFL1 CL E G H | 54585 | 6741 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | LZTR1 CL E G H | 8216 | 6742 | OMIM:616564 | Noonan syndrome 10 | | | | 43 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | LZTR1 CL E G H | 8216 | 6742 | OMIM:605275 | Noonan syndrome 2 | | | | 43 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0003319 | HP:0008440 | C1-C2 vertebral abnormality | 1 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0003319 | HP:0003308 | Cervical subluxation | 1 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MAN1B1 CL E G H | 11253 | 6823 | ORPHA:397941 | MAN1B1-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MAN1B1 CL E G H | 11253 | 6823 | OMIM:614202 | Rafiq syndrome | | | | 93 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040283 - Occasional | | | 136 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:615279 | Cardiofaciocutaneous syndrome 3 | | | | 134 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | | | | 134 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MAPK1 CL E G H | 5594 | 6871 | OMIM:619087 | NOONAN SYNDROME 13; NS13 | | | | 2 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | . | | | 4 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MECP2 CL E G H | 4204 | 6990 | OMIM:300055 | Mental retardation, X-linked, syndromic 13 | . | | | 950 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:305450 | Opitz-Kaveggia syndrome | . | | | 228 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MED13L CL E G H | 23389 | 22962 | ORPHA:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | HP:0040283 - Occasional | | | 74 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MED13L CL E G H | 23389 | 22962 | OMIM:616789 | Mental retardation and distinctive facial features with or without cardiac defects | | | | 74 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | 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:0003319 | HP:0000470 | Short neck | 1 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | . | | | 13 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MEOX1 CL E G H | 4222 | 7013 | ORPHA:2345 | Isolated Klippel-Feil syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MEOX1 CL E G H | 4222 | 7013 | OMIM:214300 | Klippel-Feil syndrome, autosomal recessive | . | | | 5 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MESP2 CL E G H | 145873 | 29659 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040281 - Very frequent | | | 45 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MESP2 CL E G H | 145873 | 29659 | OMIM:608681 | Spondylocostal dysostosis 2, autosomal recessive | . | | | 45 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MESP2 CL E G H | 145873 | 29659 | OMIM:277300 | Spondylocostal dysostosis, autosomal recessive 1 | | | | 45 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | . | | | 39 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MKKS CL E G H | 8195 | 7108 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 69 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MKS1 CL E G H | 54903 | 7121 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 127 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | . | | | 127 | | |
HP:0003319 | HP:0008440 | C1-C2 vertebral abnormality | 1 | MMP2 CL E G H | 4313 | 7166 | OMIM:259600 | Multicentric osteolysis, nodulosis, and arthropathy | | | | 64 | | |
HP:0003319 | HP:0003308 | Cervical subluxation | 1 | MMP2 CL E G H | 4313 | 7166 | OMIM:259600 | Multicentric osteolysis, nodulosis, and arthropathy | | | | 64 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MPL CL E G H | 4352 | 7217 | ORPHA:3319 | Congenital amegakaryocytic thrombocytopenia | HP:0040282 - Frequent | | | 97 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MRPL12 CL E G H | 6182 | 10378 | OMIM:618951 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45 | | | | 11 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MRPS28 CL E G H | 28957 | 14513 | OMIM:618958 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47 | | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MSL3 CL E G H | 10943 | 7370 | OMIM:301032 | BASILICATA-AKHTAR SYNDROME; MRXSBA | | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MUSK CL E G H | 4593 | 7525 | OMIM:208150 | Fetal akinesia deformation sequence | . | | | 72 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | . | | | 166 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MYH3 CL E G H | 4621 | 7573 | OMIM:178110 | Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A | . | | | 166 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MYH3 CL E G H | 4621 | 7573 | OMIM:618469 | CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B | | | | 166 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MYH3 CL E G H | 4621 | 7573 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MYL11 CL E G H | 29895 | 29824 | OMIM:619110 | ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C | | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | MYO18B CL E G H | 84700 | 18150 | OMIM:616549 | Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | . | | | 5 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | NALCN CL E G H | 259232 | 19082 | OMIM:616266 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | . | | | 48 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | NALCN CL E G H | 259232 | 19082 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040283 - Occasional | | | 48 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | NALCN CL E G H | 259232 | 19082 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | NANS CL E G H | 54187 | 19237 | OMIM:610442 | Spondyloepimetaphyseal dysplasia, Genevieve type | . | | | 8 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | NBAS CL E G H | 51594 | 15625 | OMIM:614800 | Short stature, optic nerve atrophy, and pelger-huet anomaly | . | | | 25 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | NBN CL E G H | 4683 | 7652 | ORPHA:647 | Nijmegen breakage syndrome | HP:0040281 - Very frequent | | | 706 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | . | | | 9 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:601321 | Neurofibromatosis-Noonan syndrome | . | | | 1952 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 494 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | NKX3-2 CL E G H | 579 | 951 | OMIM:613330 | Spondylo-Megaepiphyseal-Metaphyseal dysplasia | . | | | 10 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | NLRP1 CL E G H | 22861 | 14374 | OMIM:615225 | Palmoplantar carcinoma, multiple self-healing | HP:0040283 - Occasional | | | 37 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:102500 | Hajdu-Cheney syndrome | . | | | 138 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | NOTCH3 CL E G H | 4854 | 7883 | OMIM:130720 | Lateral meningocele syndrome | . | | | 144 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:2789 | Lateral meningocele syndrome | HP:0040282 - Frequent | | | 144 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 85 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | NRAS CL E G H | 4893 | 7989 | OMIM:613224 | Noonan syndrome 6 | | | | 102 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | NUP188 CL E G H | 23511 | 17859 | OMIM:618804 | SANDESTIG-STEFANOVA SYNDROME; SANDSTEF | | | | 4 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | NUP88 CL E G H | 4927 | 8067 | OMIM:618393 | Fetal akinesia deformation sequence 4 | . | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | OBSL1 CL E G H | 23363 | 29092 | OMIM:612921 | 3-M syndrome 2 | | | | 143 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | OBSL1 CL E G H | 23363 | 29092 | ORPHA:2616 | 3M syndrome | HP:0040281 - Very frequent | | | 143 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:300209 | Simpson-golabi-behmel syndrome, type 2 | . | | | 201 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | OTUD6B CL E G H | 51633 | 24281 | ORPHA:505237 | Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | OTUD6B CL E G H | 51633 | 24281 | OMIM:617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | | | | 4 | | |
HP:0003319 | HP:0004637 | Decreased cervical spine mobility | 1 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 41 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:217385 | 17p13.3 microduplication syndrome | HP:0040282 - Frequent | | | 231 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PAICS CL E G H | 10606 | 8587 | OMIM:619859 | | | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PALB2 CL E G H | 79728 | 26144 | OMIM:610832 | Fanconi anemia, complementation group N | . | | | 1349 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PAM16 CL E G H | 51025 | 29679 | OMIM:613320 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type | . | | | 1 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PGAP1 CL E G H | 80055 | 25712 | OMIM:615802 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 | | | | 20 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 20 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | . | | | 37 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:114300 | Arthrogryposis, distal, type 3 | . | | | 77 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:248700 | Marden-Walker syndrome | . | | | 77 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | . | | | 46 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 84 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PIGY CL E G H | 84992 | 28213 | OMIM:616809 | Hyperphosphatasia with mental retardation syndrome 6 | | | | 2 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PIK3CD CL E G H | 5293 | 8977 | OMIM:613328 | Roifman-Chitayat syndrome | . | | | 9 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PKDCC CL E G H | 91461 | 25123 | OMIM:618821 | RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF | | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PLXNA1 CL E G H | 5361 | 9099 | OMIM:619955 | | | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040284 - Very rare | | | 35 | | |
HP:0003319 | HP:0046508 | Abnormal cervical spine morphology | 1 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | . | | | 35 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | POLE CL E G H | 5426 | 9177 | OMIM:618336 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | . | | | 1129 | | |
HP:0003319 | HP:0046508 | Abnormal cervical spine morphology | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0003319 | HP:0004637 | Decreased cervical spine mobility | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 213 | | |
HP:0003319 | HP:0004637 | Decreased cervical spine mobility | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 221 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | POP1 CL E G H | 10940 | 30129 | OMIM:617396 | Anauxetic dysplasia 2 | HP:0040283 - Occasional | | | 6 | | |
HP:0003319 | HP:0010646 | Cervical spine instability | 1 | POP1 CL E G H | 10940 | 30129 | OMIM:617396 | Anauxetic dysplasia 2 | HP:0040283 - Occasional | | | 6 | | |
HP:0003319 | HP:0004637 | Decreased cervical spine mobility | 1 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 36 | | |
HP:0003319 | HP:0004637 | Decreased cervical spine mobility | 1 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 36 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 36 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PRMT7 CL E G H | 54496 | 25557 | OMIM:617157 | Short stature, brachydactyly, intellectual developmental disability, and seizures | . | | | 6 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PRMT7 CL E G H | 54496 | 25557 | ORPHA:464288 | Short stature-brachydactyly-obesity-global developmental delay syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0003319 | HP:0004637 | Decreased cervical spine mobility | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 54 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 54 | | |
HP:0003319 | HP:0004637 | Decreased cervical spine mobility | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 54 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PSAT1 CL E G H | 29968 | 19129 | OMIM:616038 | Neu-Laxova syndrome 2 | . | | | 27 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | HP:0040283 - Occasional | | | 27 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PSMD12 CL E G H | 5718 | 9557 | ORPHA:529962 | 17q24.2 microdeletion syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:77301 | Monosomy 9q22.3 | HP:0040281 - Very frequent | | | 665 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PTPN11 CL E G H | 5781 | 9644 | OMIM:151100 | Leopard syndrome 1 | . | | | 291 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | | | | 291 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040282 - Frequent | | | 19 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040282 - Frequent | | | 19 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | PUF60 CL E G H | 22827 | 17042 | OMIM:615583 | Verheij syndrome | . | | | 19 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RAB33B CL E G H | 83452 | 16075 | OMIM:615222 | Smith-Mccort dysplasia 2 | . | | | 53 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RAB5IF CL E G H | 55969 | 15870 | OMIM:616994 | | | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RAF1 CL E G H | 5894 | 9829 | OMIM:611554 | LEOPARD SYNDROME 2; LPRD2 | | | | 212 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RAF1 CL E G H | 5894 | 9829 | OMIM:611553 | Noonan syndrome 5 | | | | 212 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RB1 CL E G H | 5925 | 9884 | ORPHA:1587 | Monosomy 13q14 | HP:0040282 - Frequent | | | 365 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RDH11 CL E G H | 51109 | 17964 | ORPHA:436245 | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RFT1 CL E G H | 91869 | 30220 | OMIM:612015 | Congenital disorder of glycosylation, type IN | . | | | 92 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RIPPLY2 CL E G H | 134701 | 21390 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040281 - Very frequent | | | 3 | | |
HP:0003319 | HP:0046508 | Abnormal cervical spine morphology | 1 | RIPPLY2 CL E G H | 134701 | 21390 | OMIM:616566 | Spondylocostal dysostosis 6, autosomal recessive | | | | 3 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RIT1 CL E G H | 6016 | 10023 | OMIM:615355 | NOONAN SYNDROME 8; NS8 | | | | 39 | | |
HP:0003319 | HP:0003308 | Cervical subluxation | 1 | RMRP CL E G H | 6023 | 10031 | OMIM:607095 | Anauxetic dysplasia | . | | | 37 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RMRP CL E G H | 6023 | 10031 | OMIM:607095 | Anauxetic dysplasia | . | | | 37 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040281 - Very frequent | | | 37 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | HP:0040281 - Very frequent | | | 15 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | . | | | 15 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ROBO3 CL E G H | 64221 | 13433 | ORPHA:2744 | Horizontal gaze palsy with progressive scoliosis | HP:0040282 - Frequent | | | 90 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040283 - Occasional | | | 120 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 22 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 11 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 40 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 26 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 5 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 42 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | . | | | 42 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 22 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 20 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 20 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | 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:0003319 | HP:0000470 | Short neck | 1 | RSPRY1 CL E G H | 89970 | 29420 | OMIM:616723 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | . | | | 2 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040282 - Frequent | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | RYR1 CL E G H | 6261 | 10483 | OMIM:619542 | KING-DENBOROUGH SYNDROME; KDS | | | | 1200 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040283 - Occasional | | | 34 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SCAPER CL E G H | 49855 | 13081 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SCYL2 CL E G H | 55681 | 19286 | OMIM:618766 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4 | | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 61 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SEMA5A CL E G H | 9037 | 10736 | ORPHA:281 | Monosomy 5p | HP:0040282 - Frequent | | | 6 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040282 - Frequent | | | 143 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SHOX CL E G H | 6473 | 10853 | ORPHA:314795 | SHOX-related short stature | HP:0040281 - Very frequent | | | 66 | | |
HP:0003319 | HP:0008440 | C1-C2 vertebral abnormality | 1 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | . | | | 150 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93298 | Achondrogenesis type 1B | HP:0040281 - Very frequent | | | 166 | | |
HP:0003319 | HP:0046508 | Abnormal cervical spine morphology | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | | | | 166 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | HP:0040282 - Frequent | | | 166 | | |
HP:0003319 | HP:0046508 | Abnormal cervical spine morphology | 1 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:256050 | Atelosteogenesis, type II | | | | 166 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:256050 | Atelosteogenesis, type II | . | | | 166 | | |
HP:0003319 | HP:0046508 | Abnormal cervical spine morphology | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:628 | Diastrophic dysplasia | | | | 166 | | |
HP:0003319 | HP:0046508 | Abnormal cervical spine morphology | 1 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:222600 | Diastrophic dysplasia | | | | 166 | | |
HP:0003319 | HP:0046508 | Abnormal cervical spine morphology | 1 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | | | | 166 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:168577 | Hereditary cryohydrocytosis with reduced stomatin | HP:0040283 - Occasional | | | 255 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SLC35D1 CL E G H | 23169 | 20800 | ORPHA:3144 | Schneckenbecken dysplasia | HP:0040281 - Very frequent | | | 9 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SLC35D1 CL E G H | 23169 | 20800 | OMIM:269250 | Schneckenbecken dysplasia | . | | | 9 | | |
HP:0003319 | HP:0010646 | Cervical spine instability | 1 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SMAD4 CL E G H | 4089 | 6770 | OMIM:139210 | Myhre syndrome | . | | | 504 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | . | | | 74 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040283 - Occasional | | | 74 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SMC1A CL E G H | 8243 | 11111 | OMIM:300590 | Cornelia de Lange syndrome 2 | . | | | 135 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 91 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SMC3 CL E G H | 9126 | 2468 | OMIM:610759 | Cornelia de Lange syndrome 3 | | | | 91 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SMS CL E G H | 6611 | 11123 | OMIM:309583 | Mental retardation, X-linked, syndromic, Snyder-Robinson type | | | | 19 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SOS1 CL E G H | 6654 | 11187 | OMIM:610733 | Noonan syndrome 4 | | | | 315 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SOS2 CL E G H | 6655 | 11188 | OMIM:616559 | NOONAN SYNDROME 9; NS9 | | | | 30 | | |
HP:0003319 | HP:0010646 | Cervical spine instability | 1 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:140 | Campomelic dysplasia | HP:0040281 - Very frequent | | | 109 | | |
HP:0003319 | HP:0046508 | Abnormal cervical spine morphology | 1 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SPRED1 CL E G H | 161742 | 20249 | OMIM:611431 | Legius syndrome | . | | | 136 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SPRED2 CL E G H | 200734 | 17722 | OMIM:619745 | NOONAN SYNDROME 14; NS14 | | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | . | | | 138 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | SRCAP CL E G H | 10847 | 16974 | ORPHA:2044 | Floating-Harbor syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | STX16 CL E G H | 8675 | 11431 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040282 - Frequent | | | 86 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | STXBP1 CL E G H | 6812 | 11444 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040283 - Occasional | | | 237 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TALDO1 CL E G H | 6888 | 11559 | OMIM:606003 | Transaldolase deficiency | . | | | 34 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TAPT1 CL E G H | 202018 | 26887 | OMIM:616897 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | | | | 2 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | HP:0040284 - Very rare | | | 13 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:602342 | Pierpont syndrome | . | | | 22 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:487825 | Pierpont syndrome | HP:0040281 - Very frequent | | | 22 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TBR1 CL E G H | 10716 | 11590 | ORPHA:1617 | 2q24 microdeletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TBX15 CL E G H | 6913 | 11594 | ORPHA:93333 | Pelviscapular dysplasia | HP:0040280 - Obligate | | | 5 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | . | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TBX6 CL E G H | 6911 | 11605 | ORPHA:1797 | Autosomal dominant spondylocostal dysostosis | HP:0040282 - Frequent | | | 19 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TBX6 CL E G H | 6911 | 11605 | OMIM:122600 | Spondylocostal dysostosis 5 | HP:0040283 - Occasional | | | 19 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TCF4 CL E G H | 6925 | 11634 | ORPHA:2896 | Pitt-Hopkins syndrome | HP:0040281 - Very frequent | | | 241 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TCF4 CL E G H | 6925 | 11634 | OMIM:610954 | Pitt-Hopkins syndrome | . | | | 241 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TCTN2 CL E G H | 79867 | 25774 | OMIM:613885 | Meckel syndrome, type 8 | . | | | 76 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TECPR2 CL E G H | 9895 | 19957 | ORPHA:320385 | Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | HP:0040282 - Frequent | | | 39 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TECPR2 CL E G H | 9895 | 19957 | OMIM:615031 | Spastic paraplegia 49, autosomal recessive | . | | | 39 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | . | | | 12 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TGDS CL E G H | 23483 | 20324 | OMIM:616145 | Catel-Manzke syndrome | . | | | 6 | | |
HP:0003319 | HP:0010646 | Cervical spine instability | 1 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0003319 | HP:0010646 | Cervical spine instability | 1 | TGFBR1 CL E G H | 7046 | 11772 | OMIM:609192 | Loeys-Dietz syndrome 1 | | | | 239 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | THPO CL E G H | 7066 | 11795 | ORPHA:3319 | Congenital amegakaryocytic thrombocytopenia | HP:0040282 - Frequent | | | 23 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TIMM50 CL E G H | 92609 | 23656 | OMIM:617698 | 3-methylglutaconic aciduria, type IX | | | | 1 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TMCO1 CL E G H | 54499 | 18188 | ORPHA:1394 | Cerebrofaciothoracic dysplasia | HP:0040281 - Very frequent | | | 6 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | . | | | 6 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TNNI2 CL E G H | 7136 | 11946 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TNNT3 CL E G H | 7140 | 11950 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:1147 | Sheldon-Hall syndrome | HP:0040282 - Frequent | | | 54 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171436 | Typical nemaline myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TRAPPC2 CL E G H | 6399 | 23068 | ORPHA:93284 | Spondyloepiphyseal dysplasia tarda | HP:0040282 - Frequent | | | 46 | | |
HP:0003319 | HP:0004637 | Decreased cervical spine mobility | 1 | TRAPPC2 CL E G H | 6399 | 23068 | ORPHA:93284 | Spondyloepiphyseal dysplasia tarda | HP:0040283 - Occasional | | | 46 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TRAPPC2 CL E G H | 6399 | 23068 | OMIM:313400 | Spondyloepiphyseal dysplasia tarda, X-linked | . | | | 46 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TRAPPC9 CL E G H | 83696 | 30832 | OMIM:613192 | Mental retardation, autosomal recessive 13 | . | | | 158 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TRIM32 CL E G H | 22954 | 16380 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 108 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TRIP11 CL E G H | 9321 | 12305 | ORPHA:93299 | Achondrogenesis type 1A | HP:0040281 - Very frequent | | | 133 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TRIP11 CL E G H | 9321 | 12305 | OMIM:200600 | Achondrogenesis, type IA | . | | | 133 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TRMT10A CL E G H | 93587 | 28403 | OMIM:616033 | Microcephaly, short stature, and impaired glucose metabolism 1 | . | | | 7 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:113500 | Brachyolmia type 3 | . | | | 214 | | |
HP:0003319 | HP:0046508 | Abnormal cervical spine morphology | 1 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:2635 | Metatropic dysplasia | | | | 214 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:168400 | Parastremmatic dwarfism | . | | | 214 | | |
HP:0003319 | HP:0046508 | Abnormal cervical spine morphology | 1 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:93314 | Spondylometaphyseal dysplasia, Kozlowski type | | | | 214 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:184252 | Spondylometaphyseal dysplasia, Kozlowski type | . | | | 214 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TTC8 CL E G H | 123016 | 20087 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 41 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | . | | | 14 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0003319 | HP:0000470 | Short neck | 1 | UNC80 CL E G H | 285175 | 26582 | OMIM:616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | . | | | 23 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | UNC80 CL E G H | 285175 | 26582 | ORPHA:371364 | Hypotonia-speech impairment-severe cognitive delay syndrome | HP:0040283 - Occasional | | | 23 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | HP:0040283 - Occasional | | | 1 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | . | | | 20 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | WDPCP CL E G H | 51057 | 28027 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | WNT4 CL E G H | 54361 | 12783 | ORPHA:247768 | Müllerian aplasia and hyperandrogenism | HP:0040283 - Occasional | | | 4 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040283 - Occasional | | | 98 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 98 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | WNT7A CL E G H | 7476 | 12786 | ORPHA:2879 | Phocomelia, Schinzel type | HP:0040282 - Frequent | | | 13 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | WNT7A CL E G H | 7476 | 12786 | OMIM:276820 | Ulna and fibula, absence of, with severe limb deficiency | . | | | 13 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | XYLT1 CL E G H | 64131 | 15516 | OMIM:615777 | Desbuquois dysplasia 2 | | | | 14 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | XYLT1 CL E G H | 64131 | 15516 | ORPHA:1425 | Desbuquois syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | XYLT2 CL E G H | 64132 | 15517 | ORPHA:85194 | Spondylo-ocular syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | YWHAE CL E G H | 7531 | 12851 | ORPHA:217385 | 17p13.3 microduplication syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | . | | | 19 | | |
HP:0003319 | HP:0000470 | Short neck | 1 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0003319 | HP:0041167 | Fractured cervical vertebra | 2 | CL E G H | | | | | | | | | | |
HP:0003319 | HP:0008469 | Cervical vertebral dysplasia | 2 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | HP:0040283 - Occasional | | | | | |
HP:0003319 | HP:0011041 | Aplasia/Hypoplasia of the cervical spine | 2 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | | | | | | |
HP:0003319 | HP:0003320 | C1-C2 subluxation | 2 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | HP:0040283 - Occasional | | | | | |
HP:0003319 | HP:0005905 | Abnormal cervical curvature | 2 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | | | | | | |
HP:0003319 | HP:0005905 | Abnormal cervical curvature | 2 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 74 | | |
HP:0003319 | HP:0005905 | Abnormal cervical curvature | 2 | CHRND CL E G H | 1144 | 1965 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 88 | | |
HP:0003319 | HP:0005905 | Abnormal cervical curvature | 2 | CHRNG CL E G H | 1146 | 1967 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 68 | | |
HP:0003319 | HP:0005905 | Abnormal cervical curvature | 2 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | | | | 27 | | |
HP:0003319 | HP:0003320 | C1-C2 subluxation | 2 | COL2A1 CL E G H | 1280 | 2200 | OMIM:184250 | Spondyloepimetaphyseal dysplasia, Strudwick type | . | | | 284 | | |
HP:0003319 | HP:0003320 | C1-C2 subluxation | 2 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | . | | | 45 | | |
HP:0003319 | HP:0004558 | Cervical platyspondyly | 2 | DHX37 CL E G H | 57647 | 17210 | OMIM:618731 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC | | | | 2 | | |
HP:0003319 | HP:0005905 | Abnormal cervical curvature | 2 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | | | | 13 | | |
HP:0003319 | HP:0011041 | Aplasia/Hypoplasia of the cervical spine | 2 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0003319 | HP:0005905 | Abnormal cervical curvature | 2 | FLNB CL E G H | 2317 | 3755 | ORPHA:56305 | Atelosteogenesis type III | HP:0040283 - Occasional | | | 233 | | |
HP:0003319 | HP:0005905 | Abnormal cervical curvature | 2 | FLNB CL E G H | 2317 | 3755 | OMIM:108721 | Atelosteogenesis, type III | | | | 233 | | |
HP:0003319 | HP:0005905 | Abnormal cervical curvature | 2 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | | | | 233 | | |
HP:0003319 | HP:0011041 | Aplasia/Hypoplasia of the cervical spine | 2 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | | | | 233 | | |
HP:0003319 | HP:0008456 | C2-C3 subluxation | 2 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | . | | | 233 | | |
HP:0003319 | HP:0004558 | Cervical platyspondyly | 2 | FUCA1 CL E G H | 2517 | 4006 | OMIM:230000 | FUCOSIDOSIS | . | | | 43 | | |
HP:0003319 | HP:0004571 | Widening of cervical spinal canal | 2 | GLE1 CL E G H | 2733 | 4315 | OMIM:253310 | Lethal congenital contracture syndrome 1 | . | | | 45 | | |
HP:0003319 | HP:0005905 | Abnormal cervical curvature | 2 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | | | | 345 | | |
HP:0003319 | HP:0008480 | Cervical spondylosis | 2 | HTRA1 CL E G H | 5654 | 9476 | ORPHA:199354 | Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy | | | | 34 | | |
HP:0003319 | HP:0003320 | C1-C2 subluxation | 2 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | | | | 115 | | |
HP:0003319 | HP:0003320 | C1-C2 subluxation | 2 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0003319 | HP:0003320 | C1-C2 subluxation | 2 | MMP2 CL E G H | 4313 | 7166 | OMIM:259600 | Multicentric osteolysis, nodulosis, and arthropathy | | | | 64 | | |
HP:0003319 | HP:0011041 | Aplasia/Hypoplasia of the cervical spine | 2 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0003319 | HP:0008469 | Cervical vertebral dysplasia | 2 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0003319 | HP:0005905 | Abnormal cervical curvature | 2 | RIPPLY2 CL E G H | 134701 | 21390 | OMIM:616566 | Spondylocostal dysostosis 6, autosomal recessive | | | | 3 | | |
HP:0003319 | HP:0011041 | Aplasia/Hypoplasia of the cervical spine | 2 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | | | | 166 | | |
HP:0003319 | HP:0005905 | Abnormal cervical curvature | 2 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | | | | 166 | | |
HP:0003319 | HP:0005905 | Abnormal cervical curvature | 2 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:256050 | Atelosteogenesis, type II | | | | 166 | | |
HP:0003319 | HP:0011041 | Aplasia/Hypoplasia of the cervical spine | 2 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:222600 | Diastrophic dysplasia | | | | 166 | | |
HP:0003319 | HP:0005905 | Abnormal cervical curvature | 2 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:222600 | Diastrophic dysplasia | | | | 166 | | |
HP:0003319 | HP:0011041 | Aplasia/Hypoplasia of the cervical spine | 2 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:628 | Diastrophic dysplasia | | | | 166 | | |
HP:0003319 | HP:0011041 | Aplasia/Hypoplasia of the cervical spine | 2 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | | | | 166 | | |
HP:0003319 | HP:0005905 | Abnormal cervical curvature | 2 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | | | | 166 | | |
HP:0003319 | HP:0005905 | Abnormal cervical curvature | 2 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0003319 | HP:0011041 | Aplasia/Hypoplasia of the cervical spine | 2 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0003319 | HP:0011041 | Aplasia/Hypoplasia of the cervical spine | 2 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:2635 | Metatropic dysplasia | | | | 214 | | |
HP:0003319 | HP:0004558 | Cervical platyspondyly | 2 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:93314 | Spondylometaphyseal dysplasia, Kozlowski type | HP:0040283 - Occasional | | | 214 | | |
HP:0003319 | HP:0008461 | Cervical vertebral facet hypoplasia | 3 | CL E G H | | | | | | | | | | |
HP:0003319 | HP:0008459 | Cervical vertebral agenesis | 3 | CL E G H | | | | | | | | | | |
HP:0003319 | HP:0041086 | Compression-fractured cervical vertebra | 3 | CL E G H | | | | | | | | | | |
HP:0003319 | HP:0008434 | Hypoplastic cervical vertebrae | 3 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | HP:0040283 - Occasional | | | | | |
HP:0003319 | HP:0002947 | Cervical kyphosis | 3 | ARSL CL E G H | 415 | 719 | ORPHA:79345 | Brachytelephalangic chondrodysplasia punctata | HP:0040283 - Occasional | | | | | |
HP:0003319 | HP:0002947 | Cervical kyphosis | 3 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 27 | | |
HP:0003319 | HP:0002947 | Cervical kyphosis | 3 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0003319 | HP:0008434 | Hypoplastic cervical vertebrae | 3 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0003319 | HP:0002947 | Cervical kyphosis | 3 | FLNB CL E G H | 2317 | 3755 | OMIM:108721 | Atelosteogenesis, type III | . | | | 233 | | |
HP:0003319 | HP:0008434 | Hypoplastic cervical vertebrae | 3 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | . | | | 233 | | |
HP:0003319 | HP:0002947 | Cervical kyphosis | 3 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | . | | | 233 | | |
HP:0003319 | HP:0002947 | Cervical kyphosis | 3 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | | | | 345 | | |
HP:0003319 | HP:0008434 | Hypoplastic cervical vertebrae | 3 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0003319 | HP:0002947 | Cervical kyphosis | 3 | RIPPLY2 CL E G H | 134701 | 21390 | OMIM:616566 | Spondylocostal dysostosis 6, autosomal recessive | . | | | 3 | | |
HP:0003319 | HP:0008434 | Hypoplastic cervical vertebrae | 3 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | HP:0040283 - Occasional | | | 166 | | |
HP:0003319 | HP:0002947 | Cervical kyphosis | 3 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:56304 | Atelosteogenesis type II | HP:0040283 - Occasional | | | 166 | | |
HP:0003319 | HP:0002947 | Cervical kyphosis | 3 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:256050 | Atelosteogenesis, type II | | | | 166 | | |
HP:0003319 | HP:0008434 | Hypoplastic cervical vertebrae | 3 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:222600 | Diastrophic dysplasia | . | | | 166 | | |
HP:0003319 | HP:0002947 | Cervical kyphosis | 3 | SLC26A2 CL E G H | 1836 | 10994 | OMIM:222600 | Diastrophic dysplasia | . | | | 166 | | |
HP:0003319 | HP:0008434 | Hypoplastic cervical vertebrae | 3 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:628 | Diastrophic dysplasia | HP:0040281 - Very frequent | | | 166 | | |
HP:0003319 | HP:0008434 | Hypoplastic cervical vertebrae | 3 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | HP:0040283 - Occasional | | | 166 | | |
HP:0003319 | HP:0002947 | Cervical kyphosis | 3 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:93307 | Multiple epiphyseal dysplasia type 4 | HP:0040283 - Occasional | | | 166 | | |
HP:0003319 | HP:0008434 | Hypoplastic cervical vertebrae | 3 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | . | | | 109 | | |
HP:0003319 | HP:0002947 | Cervical kyphosis | 3 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0003319 | HP:0008434 | Hypoplastic cervical vertebrae | 3 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:2635 | Metatropic dysplasia | HP:0040281 - Very frequent | | | 214 | | |