Human Phenotype Ontology 
Grandparent Node:
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Abnormal axial skeleton morphology (HP:0009121)help
Parent Node:
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Abnormality of the vertebral column (HP:0000925)help
..Starting node
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Abnormality of the cervical spine (HP:0003319)help
Term ID: 3319
Name: Abnormality of the cervical spine
Synonym: Abnormal cervical spine; Abnormality of cervical vertebra; Abnormality of the cervical vertebrae; Cervical spine abnormalities; Cervical vertebral abnormalities; Cervical vertebral anomalies; Disorder of cervical vertebra
Definition: Any abnormality of the cervical vertebral column.
Comments:
Reference: HP:0003319
Genes and Diseases:
 
       Child Nodes:
........expandShort neck (HP:0000470) help
........expandCervical subluxation (HP:0003308) help
................... HP:0003320 C1-C2 subluxation
................... HP:0008456 C2-C3 subluxation
........expandCervical spine hypermobility (HP:0003318) help
........expandCervical platyspondyly (HP:0004558) help
........expandWidening of cervical spinal canal (HP:0004571) help
........expandDecreased cervical spine mobility (HP:0004637) help
........expandEnlarged sagittal diameter of the cervical canal (HP:0005878) help
........expandAbnormal cervical curvature (HP:0005905) help
................... HP:0002947 Cervical kyphosis
........expandC1-C2 vertebral abnormality (HP:0008440) help
................... HP:0003320 C1-C2 subluxation
........expandCervical vertebral dysplasia (HP:0008469) help
........expandCervical spondylosis (HP:0008480) help
........expandCervical vertebral bodies with decreased anteroposterior diameter (HP:0008483) help
........expandCervical spine instability (HP:0010646) help
........expandAplasia/Hypoplasia of the cervical spine (HP:0011041) help
................... HP:0008434 Hypoplastic cervical vertebrae
................... HP:0008459 Cervical vertebral agenesis
................... HP:0008461 Cervical vertebral facet hypoplasia

 Sister Nodes: 
..expandAbnormal coccyx morphology (HP:0008519) help
..expandAbnormal intervertebral disk morphology (HP:0005108) help
..expandAbnormal lumbar spine morphology (HP:0100712) help
..expandAbnormal sacrum morphology (HP:0005107) help
..expandAbnormal thoracic spine morphology (HP:0100711) help
..expandAbnormal vertebral morphology (HP:0003468) help
..expandAbnormality of the curvature of the vertebral column (HP:0010674) help
..expandAbnormality of the odontoid process (HP:0003310) help
..expandAplasia/Hypoplasia involving the vertebral column (HP:0008518) help
..expandAtlantoaxial abnormality (HP:0003413) help
..expandBack pain (HP:0003418) help
..expandNeuropathic spinal arthropathy (HP:0008443) help
..expandReversed usual vertebral column curves (HP:0008433) help
..expandSpinal canal stenosis (HP:0003416) help
..expandSpinal dysplasia (HP:0008423) help
..expandSpinal instability (HP:0005881) help
..expandSpinal rigidity (HP:0003306) help
..expandSpondylolisthesis (HP:0003302) help
..expandSpondylolysis (HP:0003304) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003319HP:0003319Abnormality of the cervical spine0ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia254
HP:0003319HP:0003319Abnormality of the cervical spine0ABCC9 CL E G H1006060ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu type254
HP:0003319HP:0003319Abnormality of the cervical spine0ACAN CL E G H176319ORPHA:171866Spondyloepimetaphyseal dysplasia, aggrecan type34
HP:0003319HP:0003319Abnormality of the cervical spine0ACAN CL E G H176319OMIM:612813Spondyloepimetaphyseal dysplasia, Aggrecan type34
HP:0003319HP:0003319Abnormality of the cervical spine0ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathy96
HP:0003319HP:0003319Abnormality of the cervical spine0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome72
HP:0003319HP:0003319Abnormality of the cervical spine0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 172
HP:0003319HP:0003319Abnormality of the cervical spine0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome123
HP:0003319HP:0003319Abnormality of the cervical spine0ACTG1 CL E G H71144OMIM:614583Baraitser-Winter syndrome 2123
HP:0003319HP:0003319Abnormality of the cervical spine0ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemia22
HP:0003319HP:0003319Abnormality of the cervical spine0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndrome9
HP:0003319HP:0003319Abnormality of the cervical spine0AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2
HP:0003319HP:0003319Abnormality of the cervical spine0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0003319HP:0003319Abnormality of the cervical spine0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration60
HP:0003319HP:0003319Abnormality of the cervical spine0ALDOA CL E G H226414OMIM:611881Glycogen storage disease XII50
HP:0003319HP:0003319Abnormality of the cervical spine0ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih46
HP:0003319HP:0003319Abnormality of the cervical spine0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0003319HP:0003319Abnormality of the cervical spine0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il93
HP:0003319HP:0003319Abnormality of the cervical spine0ALG9 CL E G H7979615672OMIM:263210Gillessen-Kaesbach-Nishimura syndrome93
HP:0003319HP:0003319Abnormality of the cervical spine0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0003319HP:0003319Abnormality of the cervical spine0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndrome102
HP:0003319HP:0003319Abnormality of the cervical spine0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0003319HP:0003319Abnormality of the cervical spine0ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0003319HP:0003319Abnormality of the cervical spine0ANTXR2 CL E G H11842921732ORPHA:2176Infantile systemic hyalinosis49
HP:0003319HP:0003319Abnormality of the cervical spine0AP5Z1 CL E G H990722197ORPHA:306511Autosomal recessive spastic paraplegia type 48HP:0040282 - Frequent165
HP:0003319HP:0003319Abnormality of the cervical spine0APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletion3179
HP:0003319HP:0003319Abnormality of the cervical spine0ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndrome29
HP:0003319HP:0003319Abnormality of the cervical spine0ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctata
HP:0003319HP:0003319Abnormality of the cervical spine0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0003319HP:0003319Abnormality of the cervical spine0ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndrome5
HP:0003319HP:0003319Abnormality of the cervical spine0ATP6V1B2 CL E G H526854OMIM:616455Zimmermann-Laband syndrome 25
HP:0003319HP:0003319Abnormality of the cervical spine0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1169
HP:0003319HP:0003319Abnormality of the cervical spine0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome38
HP:0003319HP:0003319Abnormality of the cervical spine0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures38
HP:0003319HP:0003319Abnormality of the cervical spine0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0003319HP:0003319Abnormality of the cervical spine0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0003319HP:0003319Abnormality of the cervical spine0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome36
HP:0003319HP:0003319Abnormality of the cervical spine0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0003319HP:0003319Abnormality of the cervical spine0BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndrome1
HP:0003319HP:0003319Abnormality of the cervical spine0BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndrome114
HP:0003319HP:0003319Abnormality of the cervical spine0BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndrome118
HP:0003319HP:0003319Abnormality of the cervical spine0BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndrome71
HP:0003319HP:0003319Abnormality of the cervical spine0BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndrome97
HP:0003319HP:0003319Abnormality of the cervical spine0BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndrome87
HP:0003319HP:0003319Abnormality of the cervical spine0BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndrome25
HP:0003319HP:0003319Abnormality of the cervical spine0BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndrome66
HP:0003319HP:0003319Abnormality of the cervical spine0BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndrome119
HP:0003319HP:0003319Abnormality of the cervical spine0BGN CL E G H6331044OMIM:300989Meester-Loeys syndrome7
HP:0003319HP:0003319Abnormality of the cervical spine0BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS78
HP:0003319HP:0003319Abnormality of the cervical spine0BMPER CL E G H16866724154ORPHA:66637Diaphanospondylodysostosis78
HP:0003319HP:0003319Abnormality of the cervical spine0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndrome2
HP:0003319HP:0003319Abnormality of the cervical spine0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0003319HP:0003319Abnormality of the cervical spine0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0003319HP:0003319Abnormality of the cervical spine0BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0003319HP:0003319Abnormality of the cervical spine0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0003319HP:0003319Abnormality of the cervical spine0BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0003319HP:0003319Abnormality of the cervical spine0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0003319HP:0003319Abnormality of the cervical spine0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndrome7
HP:0003319HP:0003319Abnormality of the cervical spine0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0003319HP:0003319Abnormality of the cervical spine0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 176
HP:0003319HP:0003319Abnormality of the cervical spine0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 1427
HP:0003319HP:0003319Abnormality of the cervical spine0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0003319HP:0003319Abnormality of the cervical spine0CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndrome85
HP:0003319HP:0003319Abnormality of the cervical spine0CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia317
HP:0003319HP:0003319Abnormality of the cervical spine0CCDC22 CL E G H2895228909ORPHA:73C syndrome33
HP:0003319HP:0003319Abnormality of the cervical spine0CCDC8 CL E G H8398725367ORPHA:26163M syndrome5
HP:0003319HP:0003319Abnormality of the cervical spine0CCDC8 CL E G H8398725367OMIM:614205THREE M SYNDROME 3; 3M35
HP:0003319HP:0003319Abnormality of the cervical spine0CCN6 CL E G H883812771OMIM:208230Arthropathy, progressive pseudorheumatoid, of childhood
HP:0003319HP:0003319Abnormality of the cervical spine0CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional8
HP:0003319HP:0003319Abnormality of the cervical spine0CD96 CL E G H1022516892ORPHA:1308C syndrome83
HP:0003319HP:0003319Abnormality of the cervical spine0CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040282 - Frequent2
HP:0003319HP:0003319Abnormality of the cervical spine0CDK5 CL E G H10201774OMIM:616342Lissencephaly 7 with cerebellar hypoplasia3
HP:0003319HP:0003319Abnormality of the cervical spine0CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndrome1
HP:0003319HP:0003319Abnormality of the cervical spine0CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndrome342
HP:0003319HP:0003319Abnormality of the cervical spine0CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0003319HP:0003319Abnormality of the cervical spine0CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndrome
HP:0003319HP:0003319Abnormality of the cervical spine0CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathy35
HP:0003319HP:0003319Abnormality of the cervical spine0CHN1 CL E G H11231943ORPHA:233Duane retraction syndrome35
HP:0003319HP:0003319Abnormality of the cervical spine0CHRNA1 CL E G H11341955OMIM:253290Multiple pterygium syndrome, Lethal type74
HP:0003319HP:0003319Abnormality of the cervical spine0CHRND CL E G H11441965OMIM:253290Multiple pterygium syndrome, Lethal type88
HP:0003319HP:0003319Abnormality of the cervical spine0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0003319HP:0003319Abnormality of the cervical spine0CHRNG CL E G H11461967OMIM:253290Multiple pterygium syndrome, Lethal type68
HP:0003319HP:0003319Abnormality of the cervical spine0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent27
HP:0003319HP:0003319Abnormality of the cervical spine0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0003319HP:0003319Abnormality of the cervical spine0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations165
HP:0003319HP:0003319Abnormality of the cervical spine0CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0003319HP:0003319Abnormality of the cervical spine0COG1 CL E G H93826545ORPHA:263508COG1-CDG52
HP:0003319HP:0003319Abnormality of the cervical spine0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg52
HP:0003319HP:0003319Abnormality of the cervical spine0COG5 CL E G H1046614857ORPHA:263487COG5-CDG79
HP:0003319HP:0003319Abnormality of the cervical spine0COG7 CL E G H9194918622ORPHA:79333COG7-CDG64
HP:0003319HP:0003319Abnormality of the cervical spine0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe64
HP:0003319HP:0003319Abnormality of the cervical spine0COL11A1 CL E G H13012186ORPHA:2021Fibrochondrogenesis215
HP:0003319HP:0003319Abnormality of the cervical spine0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1215
HP:0003319HP:0003319Abnormality of the cervical spine0COL11A2 CL E G H13022187ORPHA:2021Fibrochondrogenesis222
HP:0003319HP:0003319Abnormality of the cervical spine0COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasia222
HP:0003319HP:0003319Abnormality of the cervical spine0COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich type65
HP:0003319HP:0003319Abnormality of the cervical spine0COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia284
HP:0003319HP:0003319Abnormality of the cervical spine0COL2A1 CL E G H12802200ORPHA:485Kniest dysplasia284
HP:0003319HP:0003319Abnormality of the cervical spine0COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type284
HP:0003319HP:0003319Abnormality of the cervical spine0COL2A1 CL E G H12802200OMIM:184250Spondyloepimetaphyseal dysplasia, Strudwick type284
HP:0003319HP:0003319Abnormality of the cervical spine0COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita284
HP:0003319HP:0003319Abnormality of the cervical spine0COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenita284
HP:0003319HP:0003319Abnormality of the cervical spine0COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' type284
HP:0003319HP:0003319Abnormality of the cervical spine0COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich type442
HP:0003319HP:0003319Abnormality of the cervical spine0COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich type478
HP:0003319HP:0003319Abnormality of the cervical spine0COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich type702
HP:0003319HP:0003319Abnormality of the cervical spine0COMP CL E G H13112227ORPHA:750Pseudoachondroplasia89
HP:0003319HP:0003319Abnormality of the cervical spine0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0003319HP:0003319Abnormality of the cervical spine0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040283 - Occasional291
HP:0003319HP:0003319Abnormality of the cervical spine0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040283 - Occasional291
HP:0003319HP:0003319Abnormality of the cervical spine0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 124
HP:0003319HP:0003319Abnormality of the cervical spine0CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndrome
HP:0003319HP:0003319Abnormality of the cervical spine0CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndromeHP:0040282 - Frequent17
HP:0003319HP:0003319Abnormality of the cervical spine0CTNND2 CL E G H15012516ORPHA:281Monosomy 5p15
HP:0003319HP:0003319Abnormality of the cervical spine0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas type38
HP:0003319HP:0003319Abnormality of the cervical spine0CUL7 CL E G H982021024OMIM:2737503-M syndrome 1127
HP:0003319HP:0003319Abnormality of the cervical spine0CUL7 CL E G H982021024ORPHA:26163M syndrome127
HP:0003319HP:0003319Abnormality of the cervical spine0DCC CL E G H16302701ORPHA:2744Horizontal gaze palsy with progressive scoliosis36
HP:0003319HP:0003319Abnormality of the cervical spine0DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type45
HP:0003319HP:0003319Abnormality of the cervical spine0DDRGK1 CL E G H6599216110ORPHA:93352Spondyloepimetaphyseal dysplasia, Shohat type
HP:0003319HP:0003319Abnormality of the cervical spine0DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type
HP:0003319HP:0003319Abnormality of the cervical spine0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0003319HP:0003319Abnormality of the cervical spine0DHX37 CL E G H5764717210OMIM:618731NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC2
HP:0003319HP:0003319Abnormality of the cervical spine0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0003319HP:0003319Abnormality of the cervical spine0DLL3 CL E G H106832909ORPHA:2311Autosomal recessive spondylocostal dysostosis45
HP:0003319HP:0003319Abnormality of the cervical spine0DLL3 CL E G H106832909OMIM:277300Spondylocostal dysostosis, autosomal recessive 145
HP:0003319HP:0003319Abnormality of the cervical spine0DOK7 CL E G H28548926594OMIM:618389FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS391
HP:0003319HP:0003319Abnormality of the cervical spine0DONSON CL E G H299802993OMIM:251230Microcephaly-Micromelia syndrome9
HP:0003319HP:0003319Abnormality of the cervical spine0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiency144
HP:0003319HP:0003319Abnormality of the cervical spine0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent13
HP:0003319HP:0003319Abnormality of the cervical spine0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0003319HP:0003319Abnormality of the cervical spine0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0003319HP:0003319Abnormality of the cervical spine0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0003319HP:0003319Abnormality of the cervical spine0DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0003319HP:0003319Abnormality of the cervical spine0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0003319HP:0003319Abnormality of the cervical spine0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen disease65
HP:0003319HP:0003319Abnormality of the cervical spine0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040283 - Occasional134
HP:0003319HP:0003319Abnormality of the cervical spine0EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant51
HP:0003319HP:0003319Abnormality of the cervical spine0EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0003319HP:0003319Abnormality of the cervical spine0ECEL1 CL E G H94273147OMIM:615065Arthrogryposis, distal, type 5D37
HP:0003319HP:0003319Abnormality of the cervical spine0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome27
HP:0003319HP:0003319Abnormality of the cervical spine0EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy107
HP:0003319HP:0003319Abnormality of the cervical spine0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040283 - Occasional250
HP:0003319HP:0003319Abnormality of the cervical spine0ERCC1 CL E G H20673433ORPHA:1466COFS syndrome20
HP:0003319HP:0003319Abnormality of the cervical spine0ERCC2 CL E G H20683434ORPHA:1466COFS syndrome106
HP:0003319HP:0003319Abnormality of the cervical spine0ERCC5 CL E G H20733437ORPHA:1466COFS syndrome83
HP:0003319HP:0003319Abnormality of the cervical spine0ERCC6 CL E G H20743438ORPHA:1466COFS syndrome199
HP:0003319HP:0003319Abnormality of the cervical spine0ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndrome36
HP:0003319HP:0003319Abnormality of the cervical spine0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndrome92
HP:0003319HP:0003319Abnormality of the cervical spine0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome92
HP:0003319HP:0003319Abnormality of the cervical spine0EXOC6B CL E G H2323317085OMIM:618395Spondyloepimetaphyseal dysplasia with joint laxity, type 33
HP:0003319HP:0003319Abnormality of the cervical spine0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D
HP:0003319HP:0003319Abnormality of the cervical spine0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040282 - Frequent3
HP:0003319HP:0003319Abnormality of the cervical spine0FAM20C CL E G H5697522140ORPHA:1832Lethal osteosclerotic bone dysplasia35
HP:0003319HP:0003319Abnormality of the cervical spine0FAM20C CL E G H5697522140OMIM:259775Raine syndrome35
HP:0003319HP:0003319Abnormality of the cervical spine0FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0003319HP:0003319Abnormality of the cervical spine0FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I157
HP:0003319HP:0003319Abnormality of the cervical spine0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0003319HP:0003319Abnormality of the cervical spine0FBN2 CL E G H22013604OMIM:121050Contractural arachnodactyly, congenital655
HP:0003319HP:0003319Abnormality of the cervical spine0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040283 - Occasional62
HP:0003319HP:0003319Abnormality of the cervical spine0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome62
HP:0003319HP:0003319Abnormality of the cervical spine0FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia172
HP:0003319HP:0003319Abnormality of the cervical spine0FGFR2 CL E G H22633689OMIM:123500Crouzon syndrome.175
HP:0003319HP:0003319Abnormality of the cervical spine0FGFR3 CL E G H22613690OMIM:603956Cervical cancer.145
HP:0003319HP:0003319Abnormality of the cervical spine0FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I145
HP:0003319HP:0003319Abnormality of the cervical spine0FHL1 CL E G H22733702OMIM:300718Myopathy, reducing body, X-linked, childhood-onset68
HP:0003319HP:0003319Abnormality of the cervical spine0FHL1 CL E G H22733702OMIM:300696Myopathy, X-linked, with postural muscle atrophy68
HP:0003319HP:0003319Abnormality of the cervical spine0FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophy68
HP:0003319HP:0003319Abnormality of the cervical spine0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disability157
HP:0003319HP:0003319Abnormality of the cervical spine0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndrome8
HP:0003319HP:0003319Abnormality of the cervical spine0FLNB CL E G H23173755ORPHA:56305Atelosteogenesis type III233
HP:0003319HP:0003319Abnormality of the cervical spine0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I233
HP:0003319HP:0003319Abnormality of the cervical spine0FLNB CL E G H23173755OMIM:108721Atelosteogenesis, type III233
HP:0003319HP:0003319Abnormality of the cervical spine0FLNB CL E G H23173755ORPHA:503Larsen syndromeHP:0040283 - Occasional233
HP:0003319HP:0003319Abnormality of the cervical spine0FLNB CL E G H23173755OMIM:150250Larsen syndrome233
HP:0003319HP:0003319Abnormality of the cervical spine0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome233
HP:0003319HP:0003319Abnormality of the cervical spine0FN1 CL E G H23353778ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' type9
HP:0003319HP:0003319Abnormality of the cervical spine0FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic forms
HP:0003319HP:0003319Abnormality of the cervical spine0FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath70
HP:0003319HP:0003319Abnormality of the cervical spine0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS43
HP:0003319HP:0003319Abnormality of the cervical spine0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0003319HP:0003319Abnormality of the cervical spine0GALNS CL E G H25884122OMIM:253000Morquio syndrome A123
HP:0003319HP:0003319Abnormality of the cervical spine0GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemia29
HP:0003319HP:0003319Abnormality of the cervical spine0GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndrome87
HP:0003319HP:0003319Abnormality of the cervical spine0GDF3 CL E G H95734218ORPHA:2345Isolated Klippel-Feil syndrome7
HP:0003319HP:0003319Abnormality of the cervical spine0GDF6 CL E G H3922554221ORPHA:2345Isolated Klippel-Feil syndrome64
HP:0003319HP:0003319Abnormality of the cervical spine0GDF6 CL E G H3922554221OMIM:118100Klippel-Feil syndrome 1, autosomal dominant64
HP:0003319HP:0003319Abnormality of the cervical spine0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0003319HP:0003319Abnormality of the cervical spine0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0003319HP:0003319Abnormality of the cervical spine0GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I120
HP:0003319HP:0003319Abnormality of the cervical spine0GLB1 CL E G H27204298OMIM:253010Mucopolysaccharidosis type IVB (Morquio)120
HP:0003319HP:0003319Abnormality of the cervical spine0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease45
HP:0003319HP:0003319Abnormality of the cervical spine0GLE1 CL E G H27334315OMIM:253310Lethal congenital contracture syndrome 145
HP:0003319HP:0003319Abnormality of the cervical spine0GLE1 CL E G H27334315ORPHA:1486Lethal congenital contracture syndrome type 145
HP:0003319HP:0003319Abnormality of the cervical spine0GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic forms173
HP:0003319HP:0003319Abnormality of the cervical spine0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disability34
HP:0003319HP:0003319Abnormality of the cervical spine0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0003319HP:0003319Abnormality of the cervical spine0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1B101
HP:0003319HP:0003319Abnormality of the cervical spine0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0003319HP:0003319Abnormality of the cervical spine0GNAS CL E G H27784392OMIM:103580Pseudohypoparathyroidism, type IA101
HP:0003319HP:0003319Abnormality of the cervical spine0GNAS CL E G H27784392OMIM:612462Pseudohypoparathyroidism, type IC101
HP:0003319HP:0003319Abnormality of the cervical spine0GNAS CL E G H27784392OMIM:612463PSEUDOPSEUDOHYPOPARATHYROIDISM101
HP:0003319HP:0003319Abnormality of the cervical spine0GNPTG CL E G H8457223026OMIM:252605Mucolipidosis III gamma57
HP:0003319HP:0003319Abnormality of the cervical spine0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0003319HP:0003319Abnormality of the cervical spine0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0003319HP:0003319Abnormality of the cervical spine0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndrome73
HP:0003319HP:0003319Abnormality of the cervical spine0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndrome
HP:0003319HP:0003319Abnormality of the cervical spine0GPC6 CL E G H100824454OMIM:258315Omodysplasia 199
HP:0003319HP:0003319Abnormality of the cervical spine0GPKOW CL E G H2723830677ORPHA:2570Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0003319HP:0003319Abnormality of the cervical spine0GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type3
HP:0003319HP:0003319Abnormality of the cervical spine0GUSB CL E G H29904696ORPHA:584Mucopolysaccharidosis type 754
HP:0003319HP:0003319Abnormality of the cervical spine0GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII54
HP:0003319HP:0003319Abnormality of the cervical spine0GZF1 CL E G H6441215808OMIM:617662Joint laxity, short stature, and myopia
HP:0003319HP:0003319Abnormality of the cervical spine0H4C5 CL E G H83674790OMIM:619950
HP:0003319HP:0003319Abnormality of the cervical spine0HBA1 CL E G H30394823ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16200
HP:0003319HP:0003319Abnormality of the cervical spine0HBA2 CL E G H30404824ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 1688
HP:0003319HP:0003319Abnormality of the cervical spine0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndrome33
HP:0003319HP:0003319Abnormality of the cervical spine0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0003319HP:0003319Abnormality of the cervical spine0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0003319HP:0003319Abnormality of the cervical spine0HES7 CL E G H8466715977ORPHA:2311Autosomal recessive spondylocostal dysostosis10
HP:0003319HP:0003319Abnormality of the cervical spine0HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic forms21
HP:0003319HP:0003319Abnormality of the cervical spine0HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function21
HP:0003319HP:0003319Abnormality of the cervical spine0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0003319HP:0003319Abnormality of the cervical spine0HNRNPR CL E G H102365047OMIM:620073
HP:0003319HP:0003319Abnormality of the cervical spine0HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0003319HP:0003319Abnormality of the cervical spine0HRAS CL E G H32655173ORPHA:3071Costello syndrome113
HP:0003319HP:0003319Abnormality of the cervical spine0HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0003319HP:0003319Abnormality of the cervical spine0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0003319HP:0003319Abnormality of the cervical spine0HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome6
HP:0003319HP:0003319Abnormality of the cervical spine0HSPG2 CL E G H33395273ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker type345
HP:0003319HP:0003319Abnormality of the cervical spine0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndrome345
HP:0003319HP:0003319Abnormality of the cervical spine0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0003319HP:0003319Abnormality of the cervical spine0HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0003319HP:0003319Abnormality of the cervical spine0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0003319HP:0003319Abnormality of the cervical spine0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II86
HP:0003319HP:0003319Abnormality of the cervical spine0IDUA CL E G H34255391ORPHA:93473Hurler syndrome115
HP:0003319HP:0003319Abnormality of the cervical spine0IDUA CL E G H34255391OMIM:607014Hurler syndrome115
HP:0003319HP:0003319Abnormality of the cervical spine0IDUA CL E G H34255391OMIM:607016Scheie syndrome115
HP:0003319HP:0003319Abnormality of the cervical spine0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0003319HP:0003319Abnormality of the cervical spine0IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndrome48
HP:0003319HP:0003319Abnormality of the cervical spine0IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndrome1
HP:0003319HP:0003319Abnormality of the cervical spine0IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndrome3
HP:0003319HP:0003319Abnormality of the cervical spine0IGBP1 CL E G H34765461ORPHA:52055Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome5
HP:0003319HP:0003319Abnormality of the cervical spine0IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0003319HP:0003319Abnormality of the cervical spine0IL2RA CL E G H35596008ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional65
HP:0003319HP:0003319Abnormality of the cervical spine0IL2RB CL E G H35606009ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0003319HP:0003319Abnormality of the cervical spine0IL6ST CL E G H35726021OMIM:619750IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0003319HP:0003319Abnormality of the cervical spine0INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA18
HP:0003319HP:0003319Abnormality of the cervical spine0INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasia18
HP:0003319HP:0003319Abnormality of the cervical spine0INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0003319HP:0003319Abnormality of the cervical spine0INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0003319HP:0003319Abnormality of the cervical spine0INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0003319HP:0003319Abnormality of the cervical spine0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0003319HP:0003319Abnormality of the cervical spine0KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndrome13
HP:0003319HP:0003319Abnormality of the cervical spine0KCNJ8 CL E G H37646269ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu type23
HP:0003319HP:0003319Abnormality of the cervical spine0KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndrome7
HP:0003319HP:0003319Abnormality of the cervical spine0KIAA0586 CL E G H978619960OMIM:616546Short-Rib thoracic dysplasia 14 with polydactyly24
HP:0003319HP:0003319Abnormality of the cervical spine0KIF7 CL E G H37465430497OMIM:607131Al-Gazali-Bakalinova syndrome167
HP:0003319HP:0003319Abnormality of the cervical spine0KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome
HP:0003319HP:0003319Abnormality of the cervical spine0KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathy13
HP:0003319HP:0003319Abnormality of the cervical spine0KNSTRN CL E G H9041730767OMIM:613328Roifman-Chitayat syndrome1
HP:0003319HP:0003319Abnormality of the cervical spine0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0003319HP:0003319Abnormality of the cervical spine0KRAS CL E G H38456407OMIM:600268Oculoectodermal syndrome196
HP:0003319HP:0003319Abnormality of the cervical spine0LAMA5 CL E G H39116485OMIM:6200765
HP:0003319HP:0003319Abnormality of the cervical spine0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disability136
HP:0003319HP:0003319Abnormality of the cervical spine0LFNG CL E G H39556560ORPHA:2311Autosomal recessive spondylocostal dysostosis13
HP:0003319HP:0003319Abnormality of the cervical spine0LHX3 CL E G H80226595OMIM:221750Deafness, sensorineural, with pituitary dwarfism51
HP:0003319HP:0003319Abnormality of the cervical spine0LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function51
HP:0003319HP:0003319Abnormality of the cervical spine0LHX3 CL E G H80226595ORPHA:231720Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome51
HP:0003319HP:0003319Abnormality of the cervical spine0LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic forms43
HP:0003319HP:0003319Abnormality of the cervical spine0LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function43
HP:0003319HP:0003319Abnormality of the cervical spine0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome144
HP:0003319HP:0003319Abnormality of the cervical spine0LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathy11
HP:0003319HP:0003319Abnormality of the cervical spine0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndrome165
HP:0003319HP:0003319Abnormality of the cervical spine0LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndrome4
HP:0003319HP:0003319Abnormality of the cervical spine0LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0003319HP:0003319Abnormality of the cervical spine0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0003319HP:0003319Abnormality of the cervical spine0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0003319HP:0003319Abnormality of the cervical spine0MAFB CL E G H99356408ORPHA:233Duane retraction syndrome63
HP:0003319HP:0003319Abnormality of the cervical spine0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDG93
HP:0003319HP:0003319Abnormality of the cervical spine0MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0003319HP:0003319Abnormality of the cervical spine0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile form136
HP:0003319HP:0003319Abnormality of the cervical spine0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0003319HP:0003319Abnormality of the cervical spine0MAP2K1 CL E G H56046840OMIM:615279Cardiofaciocutaneous syndrome 3134
HP:0003319HP:0003319Abnormality of the cervical spine0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0003319HP:0003319Abnormality of the cervical spine0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0003319HP:0003319Abnormality of the cervical spine0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0003319HP:0003319Abnormality of the cervical spine0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 24
HP:0003319HP:0003319Abnormality of the cervical spine0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0003319HP:0003319Abnormality of the cervical spine0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome228
HP:0003319HP:0003319Abnormality of the cervical spine0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiency74
HP:0003319HP:0003319Abnormality of the cervical spine0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects74
HP:0003319HP:0003319Abnormality of the cervical spine0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0003319HP:0003319Abnormality of the cervical spine0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0003319HP:0003319Abnormality of the cervical spine0MEOX1 CL E G H42227013ORPHA:2345Isolated Klippel-Feil syndrome5
HP:0003319HP:0003319Abnormality of the cervical spine0MEOX1 CL E G H42227013OMIM:214300Klippel-Feil syndrome, autosomal recessive5
HP:0003319HP:0003319Abnormality of the cervical spine0MESP2 CL E G H14587329659ORPHA:2311Autosomal recessive spondylocostal dysostosis45
HP:0003319HP:0003319Abnormality of the cervical spine0MESP2 CL E G H14587329659OMIM:608681Spondylocostal dysostosis 2, autosomal recessive45
HP:0003319HP:0003319Abnormality of the cervical spine0MESP2 CL E G H14587329659OMIM:277300Spondylocostal dysostosis, autosomal recessive 145
HP:0003319HP:0003319Abnormality of the cervical spine0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa39
HP:0003319HP:0003319Abnormality of the cervical spine0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0003319HP:0003319Abnormality of the cervical spine0MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndrome69
HP:0003319HP:0003319Abnormality of the cervical spine0MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndrome127
HP:0003319HP:0003319Abnormality of the cervical spine0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0003319HP:0003319Abnormality of the cervical spine0MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy64
HP:0003319HP:0003319Abnormality of the cervical spine0MPL CL E G H43527217ORPHA:3319Congenital amegakaryocytic thrombocytopenia97
HP:0003319HP:0003319Abnormality of the cervical spine0MRPL12 CL E G H618210378OMIM:618951COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD4511
HP:0003319HP:0003319Abnormality of the cervical spine0MRPS28 CL E G H2895714513OMIM:618958COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0003319HP:0003319Abnormality of the cervical spine0MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0003319HP:0003319Abnormality of the cervical spine0MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence72
HP:0003319HP:0003319Abnormality of the cervical spine0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A166
HP:0003319HP:0003319Abnormality of the cervical spine0MYH3 CL E G H46217573OMIM:178110Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A166
HP:0003319HP:0003319Abnormality of the cervical spine0MYH3 CL E G H46217573OMIM:618469CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B166
HP:0003319HP:0003319Abnormality of the cervical spine0MYH3 CL E G H46217573ORPHA:1147Sheldon-Hall syndrome166
HP:0003319HP:0003319Abnormality of the cervical spine0MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003319HP:0003319Abnormality of the cervical spine0MYO18B CL E G H8470018150OMIM:616549Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism5
HP:0003319HP:0003319Abnormality of the cervical spine0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0003319HP:0003319Abnormality of the cervical spine0NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay48
HP:0003319HP:0003319Abnormality of the cervical spine0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome48
HP:0003319HP:0003319Abnormality of the cervical spine0NALCN CL E G H25923219082ORPHA:1147Sheldon-Hall syndrome48
HP:0003319HP:0003319Abnormality of the cervical spine0NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type8
HP:0003319HP:0003319Abnormality of the cervical spine0NBAS CL E G H5159415625OMIM:614800Short stature, optic nerve atrophy, and pelger-huet anomaly25
HP:0003319HP:0003319Abnormality of the cervical spine0NBN CL E G H46837652ORPHA:647Nijmegen breakage syndrome706
HP:0003319HP:0003319Abnormality of the cervical spine0NEB CL E G H47037720ORPHA:171436Typical nemaline myopathy745
HP:0003319HP:0003319Abnormality of the cervical spine0NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 109
HP:0003319HP:0003319Abnormality of the cervical spine0NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0003319HP:0003319Abnormality of the cervical spine0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0003319HP:0003319Abnormality of the cervical spine0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0003319HP:0003319Abnormality of the cervical spine0NKX3-2 CL E G H579951OMIM:613330Spondylo-Megaepiphyseal-Metaphyseal dysplasia10
HP:0003319HP:0003319Abnormality of the cervical spine0NLRP1 CL E G H2286114374OMIM:615225Palmoplantar carcinoma, multiple self-healing37
HP:0003319HP:0003319Abnormality of the cervical spine0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndrome138
HP:0003319HP:0003319Abnormality of the cervical spine0NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome138
HP:0003319HP:0003319Abnormality of the cervical spine0NOTCH3 CL E G H48547883OMIM:130720Lateral meningocele syndrome144
HP:0003319HP:0003319Abnormality of the cervical spine0NOTCH3 CL E G H48547883ORPHA:2789Lateral meningocele syndrome144
HP:0003319HP:0003319Abnormality of the cervical spine0NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndrome85
HP:0003319HP:0003319Abnormality of the cervical spine0NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0003319HP:0003319Abnormality of the cervical spine0NUP188 CL E G H2351117859OMIM:618804SANDESTIG-STEFANOVA SYNDROME; SANDSTEF4
HP:0003319HP:0003319Abnormality of the cervical spine0NUP88 CL E G H49278067OMIM:618393Fetal akinesia deformation sequence 4
HP:0003319HP:0003319Abnormality of the cervical spine0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndrome2
HP:0003319HP:0003319Abnormality of the cervical spine0OBSL1 CL E G H2336329092OMIM:6129213-M syndrome 2143
HP:0003319HP:0003319Abnormality of the cervical spine0OBSL1 CL E G H2336329092ORPHA:26163M syndrome143
HP:0003319HP:0003319Abnormality of the cervical spine0OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2201
HP:0003319HP:0003319Abnormality of the cervical spine0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome4
HP:0003319HP:0003319Abnormality of the cervical spine0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0003319HP:0003319Abnormality of the cervical spine0OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic forms41
HP:0003319HP:0003319Abnormality of the cervical spine0PAFAH1B1 CL E G H50488574ORPHA:21738517p13.3 microduplication syndrome231
HP:0003319HP:0003319Abnormality of the cervical spine0PAICS CL E G H106068587OMIM:619859
HP:0003319HP:0003319Abnormality of the cervical spine0PALB2 CL E G H7972826144OMIM:610832Fanconi anemia, complementation group N1349
HP:0003319HP:0003319Abnormality of the cervical spine0PAM16 CL E G H5102529679OMIM:613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type1
HP:0003319HP:0003319Abnormality of the cervical spine0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0003319HP:0003319Abnormality of the cervical spine0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndrome8
HP:0003319HP:0003319Abnormality of the cervical spine0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndrome20
HP:0003319HP:0003319Abnormality of the cervical spine0PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome37
HP:0003319HP:0003319Abnormality of the cervical spine0PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 377
HP:0003319HP:0003319Abnormality of the cervical spine0PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome77
HP:0003319HP:0003319Abnormality of the cervical spine0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 246
HP:0003319HP:0003319Abnormality of the cervical spine0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndrome36
HP:0003319HP:0003319Abnormality of the cervical spine0PIGN CL E G H235568967ORPHA:2059Fryns syndrome37
HP:0003319HP:0003319Abnormality of the cervical spine0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0003319HP:0003319Abnormality of the cervical spine0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndrome84
HP:0003319HP:0003319Abnormality of the cervical spine0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndrome57
HP:0003319HP:0003319Abnormality of the cervical spine0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndrome6
HP:0003319HP:0003319Abnormality of the cervical spine0PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0003319HP:0003319Abnormality of the cervical spine0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndrome2
HP:0003319HP:0003319Abnormality of the cervical spine0PIK3CD CL E G H52938977OMIM:613328Roifman-Chitayat syndrome9
HP:0003319HP:0003319Abnormality of the cervical spine0PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0003319HP:0003319Abnormality of the cervical spine0PLXNA1 CL E G H53619099OMIM:619955
HP:0003319HP:0003319Abnormality of the cervical spine0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndrome35
HP:0003319HP:0003319Abnormality of the cervical spine0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0003319HP:0003319Abnormality of the cervical spine0POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency1129
HP:0003319HP:0003319Abnormality of the cervical spine0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndrome138
HP:0003319HP:0003319Abnormality of the cervical spine0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0003319HP:0003319Abnormality of the cervical spine0POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disability213
HP:0003319HP:0003319Abnormality of the cervical spine0POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disability221
HP:0003319HP:0003319Abnormality of the cervical spine0POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 26
HP:0003319HP:0003319Abnormality of the cervical spine0POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic forms36
HP:0003319HP:0003319Abnormality of the cervical spine0POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function36
HP:0003319HP:0003319Abnormality of the cervical spine0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0003319HP:0003319Abnormality of the cervical spine0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome2
HP:0003319HP:0003319Abnormality of the cervical spine0PRMT7 CL E G H5449625557OMIM:617157Short stature, brachydactyly, intellectual developmental disability, and seizures6
HP:0003319HP:0003319Abnormality of the cervical spine0PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndrome6
HP:0003319HP:0003319Abnormality of the cervical spine0PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic forms54
HP:0003319HP:0003319Abnormality of the cervical spine0PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function54
HP:0003319HP:0003319Abnormality of the cervical spine0PSAT1 CL E G H2996819129OMIM:616038Neu-Laxova syndrome 227
HP:0003319HP:0003319Abnormality of the cervical spine0PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile form27
HP:0003319HP:0003319Abnormality of the cervical spine0PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndrome4
HP:0003319HP:0003319Abnormality of the cervical spine0PTCH1 CL E G H57279585ORPHA:77301Monosomy 9q22.3665
HP:0003319HP:0003319Abnormality of the cervical spine0PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1291
HP:0003319HP:0003319Abnormality of the cervical spine0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0003319HP:0003319Abnormality of the cervical spine0PTPN2 CL E G H57719650ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0003319HP:0003319Abnormality of the cervical spine0PTPN22 CL E G H261919652ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional3
HP:0003319HP:0003319Abnormality of the cervical spine0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0003319HP:0003319Abnormality of the cervical spine0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome19
HP:0003319HP:0003319Abnormality of the cervical spine0PUF60 CL E G H2282717042OMIM:615583Verheij syndrome19
HP:0003319HP:0003319Abnormality of the cervical spine0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0003319HP:0003319Abnormality of the cervical spine0RAB33B CL E G H8345216075OMIM:615222Smith-Mccort dysplasia 253
HP:0003319HP:0003319Abnormality of the cervical spine0RAB5IF CL E G H5596915870OMIM:616994
HP:0003319HP:0003319Abnormality of the cervical spine0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0003319HP:0003319Abnormality of the cervical spine0RAF1 CL E G H58949829OMIM:611554LEOPARD SYNDROME 2; LPRD2212
HP:0003319HP:0003319Abnormality of the cervical spine0RAF1 CL E G H58949829OMIM:611553Noonan syndrome 5212
HP:0003319HP:0003319Abnormality of the cervical spine0RB1 CL E G H59259884ORPHA:1587Monosomy 13q14365
HP:0003319HP:0003319Abnormality of the cervical spine0RDH11 CL E G H5110917964ORPHA:436245Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome2
HP:0003319HP:0003319Abnormality of the cervical spine0RFT1 CL E G H9186930220OMIM:612015Congenital disorder of glycosylation, type IN92
HP:0003319HP:0003319Abnormality of the cervical spine0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0003319HP:0003319Abnormality of the cervical spine0RIPPLY2 CL E G H13470121390ORPHA:2311Autosomal recessive spondylocostal dysostosis3
HP:0003319HP:0003319Abnormality of the cervical spine0RIPPLY2 CL E G H13470121390OMIM:616566Spondylocostal dysostosis 6, autosomal recessive3
HP:0003319HP:0003319Abnormality of the cervical spine0RIT1 CL E G H601610023OMIM:615355NOONAN SYNDROME 8; NS839
HP:0003319HP:0003319Abnormality of the cervical spine0RMRP CL E G H602310031OMIM:607095Anauxetic dysplasia37
HP:0003319HP:0003319Abnormality of the cervical spine0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasia37
HP:0003319HP:0003319Abnormality of the cervical spine0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and III15
HP:0003319HP:0003319Abnormality of the cervical spine0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0003319HP:0003319Abnormality of the cervical spine0ROBO3 CL E G H6422113433ORPHA:2744Horizontal gaze palsy with progressive scoliosis90
HP:0003319HP:0003319Abnormality of the cervical spine0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndrome120
HP:0003319HP:0003319Abnormality of the cervical spine0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0003319HP:0003319Abnormality of the cervical spine0RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemia22
HP:0003319HP:0003319Abnormality of the cervical spine0RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemia3
HP:0003319HP:0003319Abnormality of the cervical spine0RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemia
HP:0003319HP:0003319Abnormality of the cervical spine0RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemia3
HP:0003319HP:0003319Abnormality of the cervical spine0RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemia1
HP:0003319HP:0003319Abnormality of the cervical spine0RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemia
HP:0003319HP:0003319Abnormality of the cervical spine0RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemia
HP:0003319HP:0003319Abnormality of the cervical spine0RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemia11
HP:0003319HP:0003319Abnormality of the cervical spine0RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemia40
HP:0003319HP:0003319Abnormality of the cervical spine0RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemia26
HP:0003319HP:0003319Abnormality of the cervical spine0RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemia
HP:0003319HP:0003319Abnormality of the cervical spine0RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemia5
HP:0003319HP:0003319Abnormality of the cervical spine0RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemia42
HP:0003319HP:0003319Abnormality of the cervical spine0RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 142
HP:0003319HP:0003319Abnormality of the cervical spine0RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemia1
HP:0003319HP:0003319Abnormality of the cervical spine0RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemia22
HP:0003319HP:0003319Abnormality of the cervical spine0RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemia20
HP:0003319HP:0003319Abnormality of the cervical spine0RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemia1
HP:0003319HP:0003319Abnormality of the cervical spine0RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemia1
HP:0003319HP:0003319Abnormality of the cervical spine0RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemia3
HP:0003319HP:0003319Abnormality of the cervical spine0RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemia20
HP:0003319HP:0003319Abnormality of the cervical spine0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0003319HP:0003319Abnormality of the cervical spine0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome2
HP:0003319HP:0003319Abnormality of the cervical spine0RSPRY1 CL E G H8997029420OMIM:616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type2
HP:0003319HP:0003319Abnormality of the cervical spine0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0003319HP:0003319Abnormality of the cervical spine0RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0003319HP:0003319Abnormality of the cervical spine0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndrome86
HP:0003319HP:0003319Abnormality of the cervical spine0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangement34
HP:0003319HP:0003319Abnormality of the cervical spine0SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndrome
HP:0003319HP:0003319Abnormality of the cervical spine0SCYL2 CL E G H5568119286OMIM:618766ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0003319HP:0003319Abnormality of the cervical spine0SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndrome61
HP:0003319HP:0003319Abnormality of the cervical spine0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0003319HP:0003319Abnormality of the cervical spine0SEMA5A CL E G H903710736ORPHA:281Monosomy 5p6
HP:0003319HP:0003319Abnormality of the cervical spine0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome143
HP:0003319HP:0003319Abnormality of the cervical spine0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndrome143
HP:0003319HP:0003319Abnormality of the cervical spine0SF3B4 CL E G H1026210771OMIM:154400Acrofacial dysostosis 1, Nager type.49
HP:0003319HP:0003319Abnormality of the cervical spine0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0003319HP:0003319Abnormality of the cervical spine0SHOX CL E G H647310853ORPHA:314795SHOX-related short stature66
HP:0003319HP:0003319Abnormality of the cervical spine0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome150
HP:0003319HP:0003319Abnormality of the cervical spine0SLC26A2 CL E G H183610994ORPHA:93298Achondrogenesis type 1B166
HP:0003319HP:0003319Abnormality of the cervical spine0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0003319HP:0003319Abnormality of the cervical spine0SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II166
HP:0003319HP:0003319Abnormality of the cervical spine0SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia166
HP:0003319HP:0003319Abnormality of the cervical spine0SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasia166
HP:0003319HP:0003319Abnormality of the cervical spine0SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4166
HP:0003319HP:0003319Abnormality of the cervical spine0SLC2A1 CL E G H651311005ORPHA:168577Hereditary cryohydrocytosis with reduced stomatin255
HP:0003319HP:0003319Abnormality of the cervical spine0SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia9
HP:0003319HP:0003319Abnormality of the cervical spine0SLC35D1 CL E G H2316920800ORPHA:3144Schneckenbecken dysplasia9
HP:0003319HP:0003319Abnormality of the cervical spine0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0003319HP:0003319Abnormality of the cervical spine0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome504
HP:0003319HP:0003319Abnormality of the cervical spine0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0003319HP:0003319Abnormality of the cervical spine0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasia74
HP:0003319HP:0003319Abnormality of the cervical spine0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0003319HP:0003319Abnormality of the cervical spine0SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2135
HP:0003319HP:0003319Abnormality of the cervical spine0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0003319HP:0003319Abnormality of the cervical spine0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0003319HP:0003319Abnormality of the cervical spine0SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0003319HP:0003319Abnormality of the cervical spine0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type19
HP:0003319HP:0003319Abnormality of the cervical spine0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0003319HP:0003319Abnormality of the cervical spine0SOS1 CL E G H665411187OMIM:610733Noonan syndrome 4315
HP:0003319HP:0003319Abnormality of the cervical spine0SOS2 CL E G H665511188OMIM:616559NOONAN SYNDROME 9; NS930
HP:0003319HP:0003319Abnormality of the cervical spine0SOX9 CL E G H666211204ORPHA:140Campomelic dysplasia109
HP:0003319HP:0003319Abnormality of the cervical spine0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0003319HP:0003319Abnormality of the cervical spine0SPRED1 CL E G H16174220249OMIM:611431Legius syndrome136
HP:0003319HP:0003319Abnormality of the cervical spine0SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0003319HP:0003319Abnormality of the cervical spine0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndrome138
HP:0003319HP:0003319Abnormality of the cervical spine0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0003319HP:0003319Abnormality of the cervical spine0STAT4 CL E G H677511365ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional2
HP:0003319HP:0003319Abnormality of the cervical spine0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1B86
HP:0003319HP:0003319Abnormality of the cervical spine0STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndrome237
HP:0003319HP:0003319Abnormality of the cervical spine0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0003319HP:0003319Abnormality of the cervical spine0TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency34
HP:0003319HP:0003319Abnormality of the cervical spine0TAPT1 CL E G H20201826887OMIM:616897Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type2
HP:0003319HP:0003319Abnormality of the cervical spine0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndrome13
HP:0003319HP:0003319Abnormality of the cervical spine0TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndrome22
HP:0003319HP:0003319Abnormality of the cervical spine0TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome22
HP:0003319HP:0003319Abnormality of the cervical spine0TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndrome1
HP:0003319HP:0003319Abnormality of the cervical spine0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0003319HP:0003319Abnormality of the cervical spine0TBX15 CL E G H691311594ORPHA:93333Pelviscapular dysplasia5
HP:0003319HP:0003319Abnormality of the cervical spine0TBX2 CL E G H690911597OMIM:618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0003319HP:0003319Abnormality of the cervical spine0TBX6 CL E G H691111605ORPHA:1797Autosomal dominant spondylocostal dysostosis19
HP:0003319HP:0003319Abnormality of the cervical spine0TBX6 CL E G H691111605OMIM:122600Spondylocostal dysostosis 519
HP:0003319HP:0003319Abnormality of the cervical spine0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndrome241
HP:0003319HP:0003319Abnormality of the cervical spine0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome241
HP:0003319HP:0003319Abnormality of the cervical spine0TCTN2 CL E G H7986725774OMIM:613885Meckel syndrome, type 876
HP:0003319HP:0003319Abnormality of the cervical spine0TECPR2 CL E G H989519957ORPHA:320385Hereditary sensory and autonomic neuropathy due to TECPR2 mutation39
HP:0003319HP:0003319Abnormality of the cervical spine0TECPR2 CL E G H989519957OMIM:615031Spastic paraplegia 49, autosomal recessive39
HP:0003319HP:0003319Abnormality of the cervical spine0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome12
HP:0003319HP:0003319Abnormality of the cervical spine0TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome6
HP:0003319HP:0003319Abnormality of the cervical spine0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0003319HP:0003319Abnormality of the cervical spine0TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0003319HP:0003319Abnormality of the cervical spine0THPO CL E G H706611795ORPHA:3319Congenital amegakaryocytic thrombocytopenia23
HP:0003319HP:0003319Abnormality of the cervical spine0TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX1
HP:0003319HP:0003319Abnormality of the cervical spine0TMCO1 CL E G H5449918188ORPHA:1394Cerebrofaciothoracic dysplasia6
HP:0003319HP:0003319Abnormality of the cervical spine0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0003319HP:0003319Abnormality of the cervical spine0TNNI2 CL E G H713611946ORPHA:1147Sheldon-Hall syndrome37
HP:0003319HP:0003319Abnormality of the cervical spine0TNNT3 CL E G H714011950ORPHA:1147Sheldon-Hall syndrome43
HP:0003319HP:0003319Abnormality of the cervical spine0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0003319HP:0003319Abnormality of the cervical spine0TPM2 CL E G H716912011ORPHA:1147Sheldon-Hall syndrome54
HP:0003319HP:0003319Abnormality of the cervical spine0TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathy54
HP:0003319HP:0003319Abnormality of the cervical spine0TRAPPC2 CL E G H639923068ORPHA:93284Spondyloepiphyseal dysplasia tarda46
HP:0003319HP:0003319Abnormality of the cervical spine0TRAPPC2 CL E G H639923068OMIM:313400Spondyloepiphyseal dysplasia tarda, X-linked46
HP:0003319HP:0003319Abnormality of the cervical spine0TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13158
HP:0003319HP:0003319Abnormality of the cervical spine0TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndrome108
HP:0003319HP:0003319Abnormality of the cervical spine0TRIP11 CL E G H932112305ORPHA:93299Achondrogenesis type 1A133
HP:0003319HP:0003319Abnormality of the cervical spine0TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA133
HP:0003319HP:0003319Abnormality of the cervical spine0TRMT10A CL E G H9358728403OMIM:616033Microcephaly, short stature, and impaired glucose metabolism 17
HP:0003319HP:0003319Abnormality of the cervical spine0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome7
HP:0003319HP:0003319Abnormality of the cervical spine0TRPV4 CL E G H5934118083OMIM:113500Brachyolmia type 3214
HP:0003319HP:0003319Abnormality of the cervical spine0TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasia214
HP:0003319HP:0003319Abnormality of the cervical spine0TRPV4 CL E G H5934118083OMIM:168400Parastremmatic dwarfism214
HP:0003319HP:0003319Abnormality of the cervical spine0TRPV4 CL E G H5934118083OMIM:184252Spondylometaphyseal dysplasia, Kozlowski type214
HP:0003319HP:0003319Abnormality of the cervical spine0TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski type214
HP:0003319HP:0003319Abnormality of the cervical spine0TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemia1
HP:0003319HP:0003319Abnormality of the cervical spine0TTC8 CL E G H12301620087ORPHA:110Bardet-Biedl syndrome41
HP:0003319HP:0003319Abnormality of the cervical spine0TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 114
HP:0003319HP:0003319Abnormality of the cervical spine0TXNDC15 CL E G H7977020652OMIM:6198792
HP:0003319HP:0003319Abnormality of the cervical spine0UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0003319HP:0003319Abnormality of the cervical spine0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0003319HP:0003319Abnormality of the cervical spine0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 223
HP:0003319HP:0003319Abnormality of the cervical spine0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome23
HP:0003319HP:0003319Abnormality of the cervical spine0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders1
HP:0003319HP:0003319Abnormality of the cervical spine0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0003319HP:0003319Abnormality of the cervical spine0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome20
HP:0003319HP:0003319Abnormality of the cervical spine0WASHC5 CL E G H989728984ORPHA:73C syndrome83
HP:0003319HP:0003319Abnormality of the cervical spine0WDPCP CL E G H5105728027ORPHA:110Bardet-Biedl syndrome60
HP:0003319HP:0003319Abnormality of the cervical spine0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2136
HP:0003319HP:0003319Abnormality of the cervical spine0WNT4 CL E G H5436112783ORPHA:247768Müllerian aplasia and hyperandrogenism4
HP:0003319HP:0003319Abnormality of the cervical spine0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndrome98
HP:0003319HP:0003319Abnormality of the cervical spine0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0003319HP:0003319Abnormality of the cervical spine0WNT7A CL E G H747612786ORPHA:2879Phocomelia, Schinzel type13
HP:0003319HP:0003319Abnormality of the cervical spine0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13
HP:0003319HP:0003319Abnormality of the cervical spine0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0003319HP:0003319Abnormality of the cervical spine0XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndrome14
HP:0003319HP:0003319Abnormality of the cervical spine0XYLT2 CL E G H6413215517ORPHA:85194Spondylo-ocular syndrome5
HP:0003319HP:0003319Abnormality of the cervical spine0YWHAE CL E G H753112851ORPHA:21738517p13.3 microduplication syndrome14
HP:0003319HP:0003319Abnormality of the cervical spine0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome19
HP:0003319HP:0003319Abnormality of the cervical spine0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0003319HP:0008483Cervical vertebral bodies with decreased anteroposterior diameter1 CL E G H
HP:0003319HP:0005878Enlarged sagittal diameter of the cervical canal1 CL E G H
HP:0003319HP:0000470Short neck1ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia.254
HP:0003319HP:0000470Short neck1ABCC9 CL E G H1006060ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040282 - Frequent254
HP:0003319HP:0000470Short neck1ACAN CL E G H176319OMIM:612813Spondyloepimetaphyseal dysplasia, Aggrecan type34
HP:0003319HP:0000470Short neck1ACAN CL E G H176319ORPHA:171866Spondyloepimetaphyseal dysplasia, aggrecan typeHP:0040281 - Very frequent34
HP:0003319HP:0000470Short neck1ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional96
HP:0003319HP:0000470Short neck1ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040282 - Frequent72
HP:0003319HP:0000470Short neck1ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 1.72
HP:0003319HP:0000470Short neck1ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040282 - Frequent123
HP:0003319HP:0000470Short neck1ACTG1 CL E G H71144OMIM:614583Baraitser-Winter syndrome 2HP:0040283 - Occasional123
HP:0003319HP:0000470Short neck1ADA2 CL E G H518161839ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0003319HP:0000470Short neck1ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0003319HP:0000470Short neck1AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2.
HP:0003319HP:0000470Short neck1AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0003319HP:0000470Short neck1AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration.60
HP:0003319HP:0000470Short neck1ALDOA CL E G H226414OMIM:611881Glycogen storage disease XII.50
HP:0003319HP:0000470Short neck1ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih.46
HP:0003319HP:0000470Short neck1ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0003319HP:0000470Short neck1ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il.93
HP:0003319HP:0000470Short neck1ALG9 CL E G H7979615672OMIM:263210Gillessen-Kaesbach-Nishimura syndrome93
HP:0003319HP:0000470Short neck1AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0003319HP:0000470Short neck1ANKRD11 CL E G H2912321316ORPHA:2332KBG syndromeHP:0040282 - Frequent102
HP:0003319HP:0000470Short neck1ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0003319HP:0000470Short neck1ANTXR2 CL E G H11842921732ORPHA:2176Infantile systemic hyalinosisHP:0040281 - Very frequent49
HP:0003319HP:0000470Short neck1APC CL E G H324583ORPHA:261584Familial adenomatous polyposis due to 5q22.2 microdeletionHP:0040283 - Occasional3179
HP:0003319HP:0000470Short neck1ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional29
HP:0003319HP:0010646Cervical spine instability1ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctataHP:0040283 - Occasional
HP:0003319HP:0003308Cervical subluxation1ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctata
HP:0003319HP:0008440C1-C2 vertebral abnormality1ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctata
HP:0003319HP:0046508Abnormal cervical spine morphology1ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctata
HP:0003319HP:0000470Short neck1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent1
HP:0003319HP:0000470Short neck1ATP6V1B2 CL E G H526854ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional5
HP:0003319HP:0000470Short neck1ATP6V1B2 CL E G H526854OMIM:616455Zimmermann-Laband syndrome 2.5
HP:0003319HP:0000470Short neck1ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0003319HP:0010646Cervical spine instability1B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent38
HP:0003319HP:0000470Short neck1B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0003319HP:0000470Short neck1B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.5
HP:0003319HP:0000470Short neck1B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040281 - Very frequent36
HP:0003319HP:0000470Short neck1B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0003319HP:0000470Short neck1BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0003319HP:0000470Short neck1BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional1
HP:0003319HP:0000470Short neck1BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional114
HP:0003319HP:0000470Short neck1BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional118
HP:0003319HP:0000470Short neck1BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional71
HP:0003319HP:0000470Short neck1BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional97
HP:0003319HP:0000470Short neck1BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional87
HP:0003319HP:0000470Short neck1BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional25
HP:0003319HP:0000470Short neck1BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional66
HP:0003319HP:0000470Short neck1BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional119
HP:0003319HP:0010646Cervical spine instability1BGN CL E G H6331044OMIM:300989Meester-Loeys syndromeHP:0040283 - Occasional7
HP:0003319HP:0000470Short neck1BMPER CL E G H16866724154OMIM:608022DIAPHANOSPONDYLODYSOSTOSIS.78
HP:0003319HP:0000470Short neck1BMPER CL E G H16866724154ORPHA:66637DiaphanospondylodysostosisHP:0040281 - Very frequent78
HP:0003319HP:0000470Short neck1BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0003319HP:0000470Short neck1BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0003319HP:0000470Short neck1BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0003319HP:0000470Short neck1BRAF CL E G H6731097OMIM:613707Leopard syndrome 3276
HP:0003319HP:0000470Short neck1BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0003319HP:0000470Short neck1BRAF CL E G H6731097OMIM:613706Noonan syndrome 7276
HP:0003319HP:0000470Short neck1BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent
HP:0003319HP:0000470Short neck1BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040283 - Occasional7
HP:0003319HP:0000470Short neck1BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome.7
HP:0003319HP:0000470Short neck1BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0003319HP:0000470Short neck1C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0003319HP:0000470Short neck1CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0003319HP:0000470Short neck1CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndromeHP:0040281 - Very frequent85
HP:0003319HP:0000470Short neck1CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia.317
HP:0003319HP:0000470Short neck1CCDC22 CL E G H2895228909ORPHA:73C syndromeHP:0040283 - Occasional33
HP:0003319HP:0000470Short neck1CCDC8 CL E G H8398725367ORPHA:26163M syndromeHP:0040281 - Very frequent5
HP:0003319HP:0000470Short neck1CCDC8 CL E G H8398725367OMIM:614205THREE M SYNDROME 3; 3M35
HP:0003319HP:0004637Decreased cervical spine mobility1CCN6 CL E G H883812771OMIM:208230Arthropathy, progressive pseudorheumatoid, of childhood.
HP:0003319HP:0000470Short neck1CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040281 - Very frequent83
HP:0003319HP:0000470Short neck1CDH11 CL E G H10091750ORPHA:1299Branchioskeletogenital syndromeHP:0040281 - Very frequent2
HP:0003319HP:0000470Short neck1CDK5 CL E G H10201774OMIM:616342Lissencephaly 7 with cerebellar hypoplasia.3
HP:0003319HP:0000470Short neck1CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional1
HP:0003319HP:0000470Short neck1CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional342
HP:0003319HP:0000470Short neck1CEP55 CL E G H551651161OMIM:236500Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly2
HP:0003319HP:0000470Short neck1CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional
HP:0003319HP:0000470Short neck1CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional35
HP:0003319HP:0000470Short neck1CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0003319HP:0046508Abnormal cervical spine morphology1CHRNA1 CL E G H11341955OMIM:253290Multiple pterygium syndrome, Lethal type74
HP:0003319HP:0046508Abnormal cervical spine morphology1CHRND CL E G H11441965OMIM:253290Multiple pterygium syndrome, Lethal type88
HP:0003319HP:0000470Short neck1CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant68
HP:0003319HP:0046508Abnormal cervical spine morphology1CHRNG CL E G H11461967OMIM:253290Multiple pterygium syndrome, Lethal type68
HP:0003319HP:0046508Abnormal cervical spine morphology1CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndrome27
HP:0003319HP:0000470Short neck1CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.165
HP:0003319HP:0000470Short neck1CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0003319HP:0000470Short neck1CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0003319HP:0000470Short neck1COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040282 - Frequent52
HP:0003319HP:0000470Short neck1COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg.52
HP:0003319HP:0000470Short neck1COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040283 - Occasional79
HP:0003319HP:0000470Short neck1COG7 CL E G H9194918622ORPHA:79333COG7-CDG64
HP:0003319HP:0000470Short neck1COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0003319HP:0000470Short neck1COL11A1 CL E G H13012186ORPHA:2021FibrochondrogenesisHP:0040281 - Very frequent215
HP:0003319HP:0000470Short neck1COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1.215
HP:0003319HP:0000470Short neck1COL11A2 CL E G H13022187ORPHA:2021FibrochondrogenesisHP:0040281 - Very frequent222
HP:0003319HP:0000470Short neck1COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasiaHP:0040283 - Occasional222
HP:0003319HP:0000470Short neck1COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent65
HP:0003319HP:0010646Cervical spine instability1COL2A1 CL E G H12802200ORPHA:485Kniest dysplasiaHP:0040282 - Frequent284
HP:0003319HP:0000470Short neck1COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia.284
HP:0003319HP:0000470Short neck1COL2A1 CL E G H12802200ORPHA:485Kniest dysplasiaHP:0040283 - Occasional284
HP:0003319HP:0000470Short neck1COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type.284
HP:0003319HP:0008440C1-C2 vertebral abnormality1COL2A1 CL E G H12802200OMIM:184250Spondyloepimetaphyseal dysplasia, Strudwick type284
HP:0003319HP:0003308Cervical subluxation1COL2A1 CL E G H12802200OMIM:184250Spondyloepimetaphyseal dysplasia, Strudwick type284
HP:0003319HP:0000470Short neck1COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenitaHP:0040282 - Frequent284
HP:0003319HP:0000470Short neck1COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita.284
HP:0003319HP:0000470Short neck1COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040284 - Very rare284
HP:0003319HP:0008440C1-C2 vertebral abnormality1COL2A1 CL E G H12802200ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040284 - Very rare284
HP:0003319HP:0000470Short neck1COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent442
HP:0003319HP:0000470Short neck1COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent478
HP:0003319HP:0000470Short neck1COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent702
HP:0003319HP:0010646Cervical spine instability1COMP CL E G H13112227ORPHA:750PseudoachondroplasiaHP:0040284 - Very rare89
HP:0003319HP:0000470Short neck1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent6
HP:0003319HP:0000470Short neck1CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 1.24
HP:0003319HP:0000470Short neck1CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndromeHP:0040281 - Very frequent
HP:0003319HP:0000470Short neck1CTNND2 CL E G H15012516ORPHA:281Monosomy 5pHP:0040282 - Frequent15
HP:0003319HP:0000470Short neck1CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040281 - Very frequent38
HP:0003319HP:0000470Short neck1CUL7 CL E G H982021024OMIM:2737503-M syndrome 1.127
HP:0003319HP:0000470Short neck1CUL7 CL E G H982021024ORPHA:26163M syndromeHP:0040281 - Very frequent127
HP:0003319HP:0000470Short neck1DCC CL E G H16302701ORPHA:2744Horizontal gaze palsy with progressive scoliosisHP:0040282 - Frequent36
HP:0003319HP:0008440C1-C2 vertebral abnormality1DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type45
HP:0003319HP:0003308Cervical subluxation1DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type45
HP:0003319HP:0000470Short neck1DDRGK1 CL E G H6599216110ORPHA:93352Spondyloepimetaphyseal dysplasia, Shohat typeHP:0040283 - Occasional
HP:0003319HP:0000470Short neck1DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type.
HP:0003319HP:0000470Short neck1DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040282 - Frequent159
HP:0003319HP:0046508Abnormal cervical spine morphology1DHX37 CL E G H5764717210OMIM:618731NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC2
HP:0003319HP:0000470Short neck1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0003319HP:0000470Short neck1DLL3 CL E G H106832909ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040281 - Very frequent45
HP:0003319HP:0000470Short neck1DLL3 CL E G H106832909OMIM:277300Spondylocostal dysostosis, autosomal recessive 145
HP:0003319HP:0000470Short neck1DOK7 CL E G H28548926594OMIM:618389FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS391
HP:0003319HP:0000470Short neck1DONSON CL E G H299802993OMIM:251230Microcephaly-Micromelia syndrome.9
HP:0003319HP:0000470Short neck1DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0003319HP:0046508Abnormal cervical spine morphology1DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndrome13
HP:0003319HP:0000470Short neck1DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional14
HP:0003319HP:0000470Short neck1DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0003319HP:0000470Short neck1DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional5
HP:0003319HP:0000470Short neck1DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0003319HP:0000470Short neck1DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040282 - Frequent65
HP:0003319HP:0000470Short neck1DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0003319HP:0000470Short neck1EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant.51
HP:0003319HP:0046508Abnormal cervical spine morphology1EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0003319HP:0000470Short neck1ECEL1 CL E G H94273147OMIM:615065Arthrogryposis, distal, type 5D.37
HP:0003319HP:0000470Short neck1EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0003319HP:0000470Short neck1EMD CL E G H20103331ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent107
HP:0003319HP:0000470Short neck1ERCC1 CL E G H20673433ORPHA:1466COFS syndromeHP:0040282 - Frequent20
HP:0003319HP:0000470Short neck1ERCC2 CL E G H20683434ORPHA:1466COFS syndromeHP:0040282 - Frequent106
HP:0003319HP:0000470Short neck1ERCC5 CL E G H20733437ORPHA:1466COFS syndromeHP:0040282 - Frequent83
HP:0003319HP:0000470Short neck1ERCC6 CL E G H20743438ORPHA:1466COFS syndromeHP:0040282 - Frequent199
HP:0003319HP:0000470Short neck1ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndromeHP:0040283 - Occasional36
HP:0003319HP:0000470Short neck1ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040283 - Occasional92
HP:0003319HP:0000470Short neck1ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0003319HP:0000470Short neck1EXOC6B CL E G H2323317085OMIM:618395Spondyloepimetaphyseal dysplasia with joint laxity, type 3.3
HP:0003319HP:0000470Short neck1EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D.
HP:0003319HP:0000470Short neck1FAM20C CL E G H5697522140ORPHA:1832Lethal osteosclerotic bone dysplasiaHP:0040281 - Very frequent35
HP:0003319HP:0000470Short neck1FAM20C CL E G H5697522140OMIM:259775Raine syndrome.35
HP:0003319HP:0000470Short neck1FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0003319HP:0000470Short neck1FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I.157
HP:0003319HP:0000470Short neck1FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group LHP:0040283 - Occasional53
HP:0003319HP:0000470Short neck1FBN2 CL E G H22013604OMIM:121050Contractural arachnodactyly, congenital.655
HP:0003319HP:0003318Cervical spine hypermobility1FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome.62
HP:0003319HP:0000470Short neck1FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome62
HP:0003319HP:0000470Short neck1FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040283 - Occasional62
HP:0003319HP:0000470Short neck1FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia.172
HP:0003319HP:0000470Short neck1FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I145
HP:0003319HP:0000470Short neck1FHL1 CL E G H22733702OMIM:300718Myopathy, reducing body, X-linked, childhood-onset.68
HP:0003319HP:0000470Short neck1FHL1 CL E G H22733702OMIM:300696Myopathy, X-linked, with postural muscle atrophy.68
HP:0003319HP:0000470Short neck1FHL1 CL E G H22733702ORPHA:98863X-linked Emery-Dreifuss muscular dystrophyHP:0040282 - Frequent68
HP:0003319HP:0004637Decreased cervical spine mobility1FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional157
HP:0003319HP:0000470Short neck1FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040282 - Frequent8
HP:0003319HP:0046508Abnormal cervical spine morphology1FLNB CL E G H23173755ORPHA:56305Atelosteogenesis type III233
HP:0003319HP:0000470Short neck1FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I.233
HP:0003319HP:0000470Short neck1FLNB CL E G H23173755OMIM:108721Atelosteogenesis, type III.233
HP:0003319HP:0046508Abnormal cervical spine morphology1FLNB CL E G H23173755OMIM:108721Atelosteogenesis, type III233
HP:0003319HP:0046508Abnormal cervical spine morphology1FLNB CL E G H23173755OMIM:150250Larsen syndrome233
HP:0003319HP:0000470Short neck1FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome.233
HP:0003319HP:0003308Cervical subluxation1FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome233
HP:0003319HP:0000470Short neck1FN1 CL E G H23353778ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040284 - Very rare9
HP:0003319HP:0008440C1-C2 vertebral abnormality1FN1 CL E G H23353778ORPHA:93315Spondylometaphyseal dysplasia, 'corner fracture' typeHP:0040284 - Very rare9
HP:0003319HP:0004637Decreased cervical spine mobility1FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare
HP:0003319HP:0000470Short neck1FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath.70
HP:0003319HP:0046508Abnormal cervical spine morphology1FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS43
HP:0003319HP:0000470Short neck1FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional
HP:0003319HP:0003308Cervical subluxation1GALNS CL E G H25884122OMIM:253000Morquio syndrome A.123
HP:0003319HP:0000470Short neck1GALNS CL E G H25884122OMIM:253000Morquio syndrome A123
HP:0003319HP:0000470Short neck1GATA1 CL E G H26234170ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional29
HP:0003319HP:0000470Short neck1GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndromeHP:0040282 - Frequent87
HP:0003319HP:0000470Short neck1GDF3 CL E G H95734218ORPHA:2345Isolated Klippel-Feil syndromeHP:0040281 - Very frequent7
HP:0003319HP:0000470Short neck1GDF6 CL E G H3922554221ORPHA:2345Isolated Klippel-Feil syndromeHP:0040281 - Very frequent64
HP:0003319HP:0000470Short neck1GDF6 CL E G H3922554221OMIM:118100Klippel-Feil syndrome 1, autosomal dominant64
HP:0003319HP:0000470Short neck1GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0003319HP:0000470Short neck1GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0003319HP:0000470Short neck1GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I.120
HP:0003319HP:0003308Cervical subluxation1GLB1 CL E G H27204298OMIM:253010Mucopolysaccharidosis type IVB (Morquio).120
HP:0003319HP:0000470Short neck1GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0003319HP:0046508Abnormal cervical spine morphology1GLE1 CL E G H27334315OMIM:253310Lethal congenital contracture syndrome 145
HP:0003319HP:0000470Short neck1GLE1 CL E G H27334315ORPHA:1486Lethal congenital contracture syndrome type 1HP:0040282 - Frequent45
HP:0003319HP:0004637Decreased cervical spine mobility1GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare173
HP:0003319HP:0004637Decreased cervical spine mobility1GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional34
HP:0003319HP:0000470Short neck1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040282 - Frequent101
HP:0003319HP:0000470Short neck1GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040282 - Frequent101
HP:0003319HP:0000470Short neck1GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040282 - Frequent101
HP:0003319HP:0000470Short neck1GNAS CL E G H27784392OMIM:103580Pseudohypoparathyroidism, type IA.101
HP:0003319HP:0000470Short neck1GNAS CL E G H27784392OMIM:612462Pseudohypoparathyroidism, type IC.101
HP:0003319HP:0000470Short neck1GNAS CL E G H27784392OMIM:612463PSEUDOPSEUDOHYPOPARATHYROIDISM.101
HP:0003319HP:0000470Short neck1GNPTG CL E G H8457223026OMIM:252605Mucolipidosis III gamma.57
HP:0003319HP:0000470Short neck1GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID.69
HP:0003319HP:0000470Short neck1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent8
HP:0003319HP:0000470Short neck1GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent73
HP:0003319HP:0000470Short neck1GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040282 - Frequent
HP:0003319HP:0000470Short neck1GPC6 CL E G H100824454OMIM:258315Omodysplasia 1.99
HP:0003319HP:0000470Short neck1GPKOW CL E G H2723830677ORPHA:2570Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndromeHP:0040282 - Frequent
HP:0003319HP:0000470Short neck1GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type.3
HP:0003319HP:0000470Short neck1GUSB CL E G H29904696ORPHA:584Mucopolysaccharidosis type 7HP:0040283 - Occasional54
HP:0003319HP:0000470Short neck1GUSB CL E G H29904696OMIM:253220Mucopolysaccharidosis, type VII.54
HP:0003319HP:0000470Short neck1GZF1 CL E G H6441215808OMIM:617662Joint laxity, short stature, and myopia.
HP:0003319HP:0000470Short neck1H4C5 CL E G H83674790OMIM:619950
HP:0003319HP:0000470Short neck1HBA1 CL E G H30394823ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent200
HP:0003319HP:0000470Short neck1HBA2 CL E G H30404824ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent88
HP:0003319HP:0000470Short neck1HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040283 - Occasional33
HP:0003319HP:0000470Short neck1HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent37
HP:0003319HP:0000470Short neck1HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 5.37
HP:0003319HP:0000470Short neck1HES7 CL E G H8466715977ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040281 - Very frequent10
HP:0003319HP:0004637Decreased cervical spine mobility1HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare21
HP:0003319HP:0004637Decreased cervical spine mobility1HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional21
HP:0003319HP:0000470Short neck1HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional21
HP:0003319HP:0000470Short neck1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent3
HP:0003319HP:0000470Short neck1HNRNPR CL E G H102365047OMIM:620073
HP:0003319HP:0000470Short neck1HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0003319HP:0000470Short neck1HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0003319HP:0000470Short neck1HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040281 - Very frequent113
HP:0003319HP:0000470Short neck1HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0003319HP:0000470Short neck1HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome6
HP:0003319HP:0000470Short neck1HSPG2 CL E G H33395273ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker typeHP:0040282 - Frequent345
HP:0003319HP:0000470Short neck1HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040282 - Frequent345
HP:0003319HP:0046508Abnormal cervical spine morphology1HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0003319HP:0000470Short neck1HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1.345
HP:0003319HP:0046508Abnormal cervical spine morphology1HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0003319HP:0000470Short neck1IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0003319HP:0000470Short neck1IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II.86
HP:0003319HP:0008440C1-C2 vertebral abnormality1IDUA CL E G H34255391OMIM:607014Hurler syndrome115
HP:0003319HP:0003308Cervical subluxation1IDUA CL E G H34255391OMIM:607014Hurler syndrome115
HP:0003319HP:0000470Short neck1IDUA CL E G H34255391OMIM:607014Hurler syndrome.115
HP:0003319HP:0000470Short neck1IDUA CL E G H34255391ORPHA:93473Hurler syndromeHP:0040281 - Very frequent115
HP:0003319HP:0000470Short neck1IDUA CL E G H34255391OMIM:607016Scheie syndrome.115
HP:0003319HP:0000470Short neck1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0003319HP:0000470Short neck1IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional48
HP:0003319HP:0000470Short neck1IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional1
HP:0003319HP:0000470Short neck1IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional3
HP:0003319HP:0000470Short neck1IGBP1 CL E G H34765461ORPHA:52055Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndromeHP:0040281 - Very frequent5
HP:0003319HP:0000470Short neck1IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0003319HP:0000470Short neck1IL6ST CL E G H35726021OMIM:619750IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0003319HP:0000470Short neck1INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA.18
HP:0003319HP:0000470Short neck1INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasiaHP:0040281 - Very frequent18
HP:0003319HP:0000470Short neck1INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0003319HP:0000470Short neck1INTU CL E G H2715229239OMIM:617926OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0003319HP:0000470Short neck1INTU CL E G H2715229239OMIM:617925Short-Rib thoracic dysplasia 20 with polydactyly
HP:0003319HP:0000470Short neck1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent2
HP:0003319HP:0000470Short neck1KCNH1 CL E G H37566250ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional13
HP:0003319HP:0000470Short neck1KCNJ8 CL E G H37646269ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040282 - Frequent23
HP:0003319HP:0000470Short neck1KCNN3 CL E G H37826292ORPHA:3473Zimmermann-Laband syndromeHP:0040283 - Occasional7
HP:0003319HP:0000470Short neck1KIAA0586 CL E G H978619960OMIM:616546Short-Rib thoracic dysplasia 14 with polydactyly.24
HP:0003319HP:0000470Short neck1KIF7 CL E G H37465430497OMIM:607131Al-Gazali-Bakalinova syndrome.167
HP:0003319HP:0000470Short neck1KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome.
HP:0003319HP:0000470Short neck1KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional13
HP:0003319HP:0000470Short neck1KNSTRN CL E G H9041730767OMIM:613328Roifman-Chitayat syndrome.1
HP:0003319HP:0000470Short neck1KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0003319HP:0000470Short neck1KRAS CL E G H38456407OMIM:600268Oculoectodermal syndrome.196
HP:0003319HP:0000470Short neck1LAMA5 CL E G H39116485OMIM:6200765
HP:0003319HP:0004637Decreased cervical spine mobility1LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional136
HP:0003319HP:0000470Short neck1LFNG CL E G H39556560ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040281 - Very frequent13
HP:0003319HP:0000470Short neck1LHX3 CL E G H80226595OMIM:221750Deafness, sensorineural, with pituitary dwarfism.51
HP:0003319HP:0000470Short neck1LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional51
HP:0003319HP:0004637Decreased cervical spine mobility1LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional51
HP:0003319HP:0000470Short neck1LHX3 CL E G H80226595ORPHA:231720Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndromeHP:0040281 - Very frequent51
HP:0003319HP:0004637Decreased cervical spine mobility1LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare43
HP:0003319HP:0000470Short neck1LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional43
HP:0003319HP:0004637Decreased cervical spine mobility1LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional43
HP:0003319HP:0000470Short neck1LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome.144
HP:0003319HP:0000470Short neck1LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional11
HP:0003319HP:0000470Short neck1LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040283 - Occasional165
HP:0003319HP:0000470Short neck1LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional4
HP:0003319HP:0000470Short neck1LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0003319HP:0000470Short neck1LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0003319HP:0000470Short neck1MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0003319HP:0008440C1-C2 vertebral abnormality1MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0003319HP:0003308Cervical subluxation1MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0003319HP:0000470Short neck1MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0003319HP:0000470Short neck1MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040283 - Occasional93
HP:0003319HP:0000470Short neck1MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0003319HP:0000470Short neck1MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040283 - Occasional136
HP:0003319HP:0000470Short neck1MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0003319HP:0000470Short neck1MAP2K1 CL E G H56046840OMIM:615279Cardiofaciocutaneous syndrome 3134
HP:0003319HP:0000470Short neck1MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0003319HP:0000470Short neck1MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0003319HP:0000470Short neck1MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0003319HP:0000470Short neck1MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 2.4
HP:0003319HP:0000470Short neck1MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13.950
HP:0003319HP:0000470Short neck1MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0003319HP:0000470Short neck1MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0003319HP:0000470Short neck1MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects74
HP:0003319HP:0000470Short neck1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent1
HP:0003319HP:0000470Short neck1MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 2.13
HP:0003319HP:0000470Short neck1MEOX1 CL E G H42227013ORPHA:2345Isolated Klippel-Feil syndromeHP:0040281 - Very frequent5
HP:0003319HP:0000470Short neck1MEOX1 CL E G H42227013OMIM:214300Klippel-Feil syndrome, autosomal recessive.5
HP:0003319HP:0000470Short neck1MESP2 CL E G H14587329659ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040281 - Very frequent45
HP:0003319HP:0000470Short neck1MESP2 CL E G H14587329659OMIM:608681Spondylocostal dysostosis 2, autosomal recessive.45
HP:0003319HP:0000470Short neck1MESP2 CL E G H14587329659OMIM:277300Spondylocostal dysostosis, autosomal recessive 145
HP:0003319HP:0000470Short neck1MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa.39
HP:0003319HP:0000470Short neck1MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0003319HP:0000470Short neck1MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional69
HP:0003319HP:0000470Short neck1MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional127
HP:0003319HP:0000470Short neck1MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1.127
HP:0003319HP:0008440C1-C2 vertebral abnormality1MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy64
HP:0003319HP:0003308Cervical subluxation1MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy64
HP:0003319HP:0000470Short neck1MPL CL E G H43527217ORPHA:3319Congenital amegakaryocytic thrombocytopeniaHP:0040282 - Frequent97
HP:0003319HP:0000470Short neck1MRPL12 CL E G H618210378OMIM:618951COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD4511
HP:0003319HP:0000470Short neck1MRPS28 CL E G H2895714513OMIM:618958COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0003319HP:0000470Short neck1MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0003319HP:0000470Short neck1MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence.72
HP:0003319HP:0000470Short neck1MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A.166
HP:0003319HP:0000470Short neck1MYH3 CL E G H46217573OMIM:178110Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A.166
HP:0003319HP:0000470Short neck1MYH3 CL E G H46217573OMIM:618469CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B; CPSFS1B166
HP:0003319HP:0000470Short neck1MYH3 CL E G H46217573ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent166
HP:0003319HP:0000470Short neck1MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0003319HP:0000470Short neck1MYO18B CL E G H8470018150OMIM:616549Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism.5
HP:0003319HP:0000470Short neck1NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0003319HP:0000470Short neck1NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay.48
HP:0003319HP:0000470Short neck1NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040283 - Occasional48
HP:0003319HP:0000470Short neck1NALCN CL E G H25923219082ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent48
HP:0003319HP:0000470Short neck1NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type.8
HP:0003319HP:0000470Short neck1NBAS CL E G H5159415625OMIM:614800Short stature, optic nerve atrophy, and pelger-huet anomaly.25
HP:0003319HP:0000470Short neck1NBN CL E G H46837652ORPHA:647Nijmegen breakage syndromeHP:0040281 - Very frequent706
HP:0003319HP:0000470Short neck1NEB CL E G H47037720ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional745
HP:0003319HP:0000470Short neck1NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 10.9
HP:0003319HP:0000470Short neck1NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome.1952
HP:0003319HP:0000470Short neck1NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent494
HP:0003319HP:0000470Short neck1NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0003319HP:0000470Short neck1NKX3-2 CL E G H579951OMIM:613330Spondylo-Megaepiphyseal-Metaphyseal dysplasia.10
HP:0003319HP:0000470Short neck1NLRP1 CL E G H2286114374OMIM:615225Palmoplantar carcinoma, multiple self-healingHP:0040283 - Occasional37
HP:0003319HP:0000470Short neck1NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040282 - Frequent138
HP:0003319HP:0000470Short neck1NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome.138
HP:0003319HP:0000470Short neck1NOTCH3 CL E G H48547883OMIM:130720Lateral meningocele syndrome.144
HP:0003319HP:0000470Short neck1NOTCH3 CL E G H48547883ORPHA:2789Lateral meningocele syndromeHP:0040282 - Frequent144
HP:0003319HP:0000470Short neck1NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional85
HP:0003319HP:0000470Short neck1NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0003319HP:0000470Short neck1NUP188 CL E G H2351117859OMIM:618804SANDESTIG-STEFANOVA SYNDROME; SANDSTEF4
HP:0003319HP:0000470Short neck1NUP88 CL E G H49278067OMIM:618393Fetal akinesia deformation sequence 4.
HP:0003319HP:0000470Short neck1NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional2
HP:0003319HP:0000470Short neck1OBSL1 CL E G H2336329092OMIM:6129213-M syndrome 2143
HP:0003319HP:0000470Short neck1OBSL1 CL E G H2336329092ORPHA:26163M syndromeHP:0040281 - Very frequent143
HP:0003319HP:0000470Short neck1OFD1 CL E G H84812567OMIM:300209Simpson-golabi-behmel syndrome, type 2.201
HP:0003319HP:0000470Short neck1OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040282 - Frequent4
HP:0003319HP:0000470Short neck1OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0003319HP:0004637Decreased cervical spine mobility1OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare41
HP:0003319HP:0000470Short neck1PAFAH1B1 CL E G H50488574ORPHA:21738517p13.3 microduplication syndromeHP:0040282 - Frequent231
HP:0003319HP:0000470Short neck1PAICS CL E G H106068587OMIM:619859
HP:0003319HP:0000470Short neck1PALB2 CL E G H7972826144OMIM:610832Fanconi anemia, complementation group N.1349
HP:0003319HP:0000470Short neck1PAM16 CL E G H5102529679OMIM:613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type.1
HP:0003319HP:0000470Short neck1PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0003319HP:0000470Short neck1PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional8
HP:0003319HP:0000470Short neck1PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional20
HP:0003319HP:0000470Short neck1PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome.37
HP:0003319HP:0000470Short neck1PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 3.77
HP:0003319HP:0000470Short neck1PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome.77
HP:0003319HP:0000470Short neck1PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 2.46
HP:0003319HP:0000470Short neck1PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional36
HP:0003319HP:0000470Short neck1PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040281 - Very frequent37
HP:0003319HP:0000470Short neck1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0003319HP:0000470Short neck1PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional84
HP:0003319HP:0000470Short neck1PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional57
HP:0003319HP:0000470Short neck1PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional6
HP:0003319HP:0000470Short neck1PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0003319HP:0000470Short neck1PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional2
HP:0003319HP:0000470Short neck1PIK3CD CL E G H52938977OMIM:613328Roifman-Chitayat syndrome.9
HP:0003319HP:0000470Short neck1PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0003319HP:0000470Short neck1PLXNA1 CL E G H53619099OMIM:619955
HP:0003319HP:0000470Short neck1POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040284 - Very rare35
HP:0003319HP:0046508Abnormal cervical spine morphology1POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0003319HP:0000470Short neck1POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome.35
HP:0003319HP:0000470Short neck1POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency.1129
HP:0003319HP:0046508Abnormal cervical spine morphology1POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndrome138
HP:0003319HP:0000470Short neck1POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0003319HP:0004637Decreased cervical spine mobility1POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional213
HP:0003319HP:0004637Decreased cervical spine mobility1POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional221
HP:0003319HP:0000470Short neck1POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 2HP:0040283 - Occasional6
HP:0003319HP:0010646Cervical spine instability1POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 2HP:0040283 - Occasional6
HP:0003319HP:0004637Decreased cervical spine mobility1POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare36
HP:0003319HP:0004637Decreased cervical spine mobility1POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional36
HP:0003319HP:0000470Short neck1POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional36
HP:0003319HP:0000470Short neck1PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0003319HP:0000470Short neck1PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0003319HP:0000470Short neck1PRMT7 CL E G H5449625557OMIM:617157Short stature, brachydactyly, intellectual developmental disability, and seizures.6
HP:0003319HP:0000470Short neck1PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040282 - Frequent6
HP:0003319HP:0004637Decreased cervical spine mobility1PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040284 - Very rare54
HP:0003319HP:0000470Short neck1PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional54
HP:0003319HP:0004637Decreased cervical spine mobility1PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional54
HP:0003319HP:0000470Short neck1PSAT1 CL E G H2996819129OMIM:616038Neu-Laxova syndrome 2.27
HP:0003319HP:0000470Short neck1PSAT1 CL E G H2996819129ORPHA:284417Phosphoserine aminotransferase deficiency, infantile/juvenile formHP:0040283 - Occasional27
HP:0003319HP:0000470Short neck1PSMD12 CL E G H57189557ORPHA:52996217q24.2 microdeletion syndromeHP:0040282 - Frequent4
HP:0003319HP:0000470Short neck1PTCH1 CL E G H57279585ORPHA:77301Monosomy 9q22.3HP:0040281 - Very frequent665
HP:0003319HP:0000470Short neck1PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1.291
HP:0003319HP:0000470Short neck1PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0003319HP:0000470Short neck1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040282 - Frequent19
HP:0003319HP:0000470Short neck1PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040282 - Frequent19
HP:0003319HP:0000470Short neck1PUF60 CL E G H2282717042OMIM:615583Verheij syndrome.19
HP:0003319HP:0000470Short neck1RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0003319HP:0000470Short neck1RAB33B CL E G H8345216075OMIM:615222Smith-Mccort dysplasia 2.53
HP:0003319HP:0000470Short neck1RAB5IF CL E G H5596915870OMIM:616994
HP:0003319HP:0000470Short neck1RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent25
HP:0003319HP:0000470Short neck1RAF1 CL E G H58949829OMIM:611554LEOPARD SYNDROME 2; LPRD2212
HP:0003319HP:0000470Short neck1RAF1 CL E G H58949829OMIM:611553Noonan syndrome 5212
HP:0003319HP:0000470Short neck1RB1 CL E G H59259884ORPHA:1587Monosomy 13q14HP:0040282 - Frequent365
HP:0003319HP:0000470Short neck1RDH11 CL E G H5110917964ORPHA:436245Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndromeHP:0040282 - Frequent2
HP:0003319HP:0000470Short neck1RFT1 CL E G H9186930220OMIM:612015Congenital disorder of glycosylation, type IN.92
HP:0003319HP:0000470Short neck1RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0003319HP:0000470Short neck1RIPPLY2 CL E G H13470121390ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040281 - Very frequent3
HP:0003319HP:0046508Abnormal cervical spine morphology1RIPPLY2 CL E G H13470121390OMIM:616566Spondylocostal dysostosis 6, autosomal recessive3
HP:0003319HP:0000470Short neck1RIT1 CL E G H601610023OMIM:615355NOONAN SYNDROME 8; NS839
HP:0003319HP:0003308Cervical subluxation1RMRP CL E G H602310031OMIM:607095Anauxetic dysplasia.37
HP:0003319HP:0000470Short neck1RMRP CL E G H602310031OMIM:607095Anauxetic dysplasia.37
HP:0003319HP:0000470Short neck1RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040281 - Very frequent37
HP:0003319HP:0000470Short neck1RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and IIIHP:0040281 - Very frequent15
HP:0003319HP:0000470Short neck1RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0003319HP:0000470Short neck1ROBO3 CL E G H6422113433ORPHA:2744Horizontal gaze palsy with progressive scoliosisHP:0040282 - Frequent90
HP:0003319HP:0000470Short neck1ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040283 - Occasional120
HP:0003319HP:0000470Short neck1ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive120
HP:0003319HP:0000470Short neck1RPL11 CL E G H613510301ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0003319HP:0000470Short neck1RPL15 CL E G H613810306ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0003319HP:0000470Short neck1RPL18 CL E G H614110310ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0003319HP:0000470Short neck1RPL26 CL E G H615410327ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0003319HP:0000470Short neck1RPL27 CL E G H615510328ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0003319HP:0000470Short neck1RPL31 CL E G H616010334ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0003319HP:0000470Short neck1RPL35 CL E G H1122410344ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0003319HP:0000470Short neck1RPL35A CL E G H616510345ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional11
HP:0003319HP:0000470Short neck1RPL5 CL E G H612510360ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional40
HP:0003319HP:0000470Short neck1RPS10 CL E G H620410383ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional26
HP:0003319HP:0000470Short neck1RPS15A CL E G H621010389ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional
HP:0003319HP:0000470Short neck1RPS17 CL E G H621810397ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional5
HP:0003319HP:0000470Short neck1RPS19 CL E G H622310402ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional42
HP:0003319HP:0000470Short neck1RPS19 CL E G H622310402OMIM:105650Diamond-Blackfan anemia 1.42
HP:0003319HP:0000470Short neck1RPS20 CL E G H622410405ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0003319HP:0000470Short neck1RPS24 CL E G H622910411ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional22
HP:0003319HP:0000470Short neck1RPS26 CL E G H623110414ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional20
HP:0003319HP:0000470Short neck1RPS27 CL E G H623210416ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0003319HP:0000470Short neck1RPS28 CL E G H623410418ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0003319HP:0000470Short neck1RPS29 CL E G H623510419ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional3
HP:0003319HP:0000470Short neck1RPS7 CL E G H620110440ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional20
HP:0003319HP:0000470Short neck1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0003319HP:0000470Short neck1RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0003319HP:0000470Short neck1RSPRY1 CL E G H8997029420OMIM:616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type.2
HP:0003319HP:0000470Short neck1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040282 - Frequent
HP:0003319HP:0000470Short neck1RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0003319HP:0000470Short neck1SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0003319HP:0000470Short neck1SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0003319HP:0000470Short neck1SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional
HP:0003319HP:0000470Short neck1SCYL2 CL E G H5568119286OMIM:618766ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0003319HP:0000470Short neck1SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional61
HP:0003319HP:0000470Short neck1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0003319HP:0000470Short neck1SEMA5A CL E G H903710736ORPHA:281Monosomy 5pHP:0040282 - Frequent6
HP:0003319HP:0000470Short neck1SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0003319HP:0000470Short neck1SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040282 - Frequent143
HP:0003319HP:0000470Short neck1SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0003319HP:0000470Short neck1SHOX CL E G H647310853ORPHA:314795SHOX-related short statureHP:0040281 - Very frequent66
HP:0003319HP:0008440C1-C2 vertebral abnormality1SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome.150
HP:0003319HP:0000470Short neck1SLC26A2 CL E G H183610994ORPHA:93298Achondrogenesis type 1BHP:0040281 - Very frequent166
HP:0003319HP:0046508Abnormal cervical spine morphology1SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0003319HP:0000470Short neck1SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040282 - Frequent166
HP:0003319HP:0046508Abnormal cervical spine morphology1SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II166
HP:0003319HP:0000470Short neck1SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II.166
HP:0003319HP:0046508Abnormal cervical spine morphology1SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasia166
HP:0003319HP:0046508Abnormal cervical spine morphology1SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia166
HP:0003319HP:0046508Abnormal cervical spine morphology1SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4166
HP:0003319HP:0000470Short neck1SLC2A1 CL E G H651311005ORPHA:168577Hereditary cryohydrocytosis with reduced stomatinHP:0040283 - Occasional255
HP:0003319HP:0000470Short neck1SLC35D1 CL E G H2316920800ORPHA:3144Schneckenbecken dysplasiaHP:0040281 - Very frequent9
HP:0003319HP:0000470Short neck1SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia.9
HP:0003319HP:0010646Cervical spine instability1SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0003319HP:0000470Short neck1SMAD4 CL E G H40896770OMIM:139210Myhre syndrome.504
HP:0003319HP:0000470Short neck1SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type.74
HP:0003319HP:0000470Short neck1SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040283 - Occasional74
HP:0003319HP:0000470Short neck1SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent135
HP:0003319HP:0000470Short neck1SMC1A CL E G H824311111OMIM:300590Cornelia de Lange syndrome 2.135
HP:0003319HP:0000470Short neck1SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent91
HP:0003319HP:0000470Short neck1SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0003319HP:0000470Short neck1SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0003319HP:0000470Short neck1SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type19
HP:0003319HP:0000470Short neck1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0003319HP:0000470Short neck1SOS1 CL E G H665411187OMIM:610733Noonan syndrome 4315
HP:0003319HP:0000470Short neck1SOS2 CL E G H665511188OMIM:616559NOONAN SYNDROME 9; NS930
HP:0003319HP:0010646Cervical spine instability1SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0003319HP:0000470Short neck1SOX9 CL E G H666211204ORPHA:140Campomelic dysplasiaHP:0040281 - Very frequent109
HP:0003319HP:0046508Abnormal cervical spine morphology1SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0003319HP:0000470Short neck1SPRED1 CL E G H16174220249OMIM:611431Legius syndrome.136
HP:0003319HP:0000470Short neck1SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0003319HP:0000470Short neck1SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome.138
HP:0003319HP:0000470Short neck1SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040282 - Frequent138
HP:0003319HP:0000470Short neck1STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040282 - Frequent86
HP:0003319HP:0000470Short neck1STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040283 - Occasional237
HP:0003319HP:0000470Short neck1TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0003319HP:0000470Short neck1TALDO1 CL E G H688811559OMIM:606003Transaldolase deficiency.34
HP:0003319HP:0000470Short neck1TAPT1 CL E G H20201826887OMIM:616897Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type2
HP:0003319HP:0000470Short neck1TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040284 - Very rare13
HP:0003319HP:0000470Short neck1TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome.22
HP:0003319HP:0000470Short neck1TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndromeHP:0040281 - Very frequent22
HP:0003319HP:0000470Short neck1TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndromeHP:0040281 - Very frequent1
HP:0003319HP:0000470Short neck1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent32
HP:0003319HP:0000470Short neck1TBX15 CL E G H691311594ORPHA:93333Pelviscapular dysplasiaHP:0040280 - Obligate5
HP:0003319HP:0000470Short neck1TBX2 CL E G H690911597OMIM:618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION.
HP:0003319HP:0000470Short neck1TBX6 CL E G H691111605ORPHA:1797Autosomal dominant spondylocostal dysostosisHP:0040282 - Frequent19
HP:0003319HP:0000470Short neck1TBX6 CL E G H691111605OMIM:122600Spondylocostal dysostosis 5HP:0040283 - Occasional19
HP:0003319HP:0000470Short neck1TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040281 - Very frequent241
HP:0003319HP:0000470Short neck1TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome.241
HP:0003319HP:0000470Short neck1TCTN2 CL E G H7986725774OMIM:613885Meckel syndrome, type 8.76
HP:0003319HP:0000470Short neck1TECPR2 CL E G H989519957ORPHA:320385Hereditary sensory and autonomic neuropathy due to TECPR2 mutationHP:0040282 - Frequent39
HP:0003319HP:0000470Short neck1TECPR2 CL E G H989519957OMIM:615031Spastic paraplegia 49, autosomal recessive.39
HP:0003319HP:0000470Short neck1TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0003319HP:0000470Short neck1TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome.6
HP:0003319HP:0010646Cervical spine instability1TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0003319HP:0010646Cervical spine instability1TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0003319HP:0000470Short neck1THPO CL E G H706611795ORPHA:3319Congenital amegakaryocytic thrombocytopeniaHP:0040282 - Frequent23
HP:0003319HP:0000470Short neck1TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX1
HP:0003319HP:0000470Short neck1TMCO1 CL E G H5449918188ORPHA:1394Cerebrofaciothoracic dysplasiaHP:0040281 - Very frequent6
HP:0003319HP:0000470Short neck1TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome.6
HP:0003319HP:0000470Short neck1TNNI2 CL E G H713611946ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent37
HP:0003319HP:0000470Short neck1TNNT3 CL E G H714011950ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent43
HP:0003319HP:0000470Short neck1TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0003319HP:0000470Short neck1TPM2 CL E G H716912011ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent54
HP:0003319HP:0000470Short neck1TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional54
HP:0003319HP:0000470Short neck1TRAPPC2 CL E G H639923068ORPHA:93284Spondyloepiphyseal dysplasia tardaHP:0040282 - Frequent46
HP:0003319HP:0004637Decreased cervical spine mobility1TRAPPC2 CL E G H639923068ORPHA:93284Spondyloepiphyseal dysplasia tardaHP:0040283 - Occasional46
HP:0003319HP:0000470Short neck1TRAPPC2 CL E G H639923068OMIM:313400Spondyloepiphyseal dysplasia tarda, X-linked.46
HP:0003319HP:0000470Short neck1TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13.158
HP:0003319HP:0000470Short neck1TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional108
HP:0003319HP:0000470Short neck1TRIP11 CL E G H932112305ORPHA:93299Achondrogenesis type 1AHP:0040281 - Very frequent133
HP:0003319HP:0000470Short neck1TRIP11 CL E G H932112305OMIM:200600Achondrogenesis, type IA.133
HP:0003319HP:0000470Short neck1TRMT10A CL E G H9358728403OMIM:616033Microcephaly, short stature, and impaired glucose metabolism 1.7
HP:0003319HP:0000470Short neck1TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0003319HP:0000470Short neck1TRPV4 CL E G H5934118083OMIM:113500Brachyolmia type 3.214
HP:0003319HP:0046508Abnormal cervical spine morphology1TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasia214
HP:0003319HP:0000470Short neck1TRPV4 CL E G H5934118083OMIM:168400Parastremmatic dwarfism.214
HP:0003319HP:0046508Abnormal cervical spine morphology1TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski type214
HP:0003319HP:0000470Short neck1TRPV4 CL E G H5934118083OMIM:184252Spondylometaphyseal dysplasia, Kozlowski type.214
HP:0003319HP:0000470Short neck1TSR2 CL E G H9012125455ORPHA:124Blackfan-Diamond anemiaHP:0040283 - Occasional1
HP:0003319HP:0000470Short neck1TTC8 CL E G H12301620087ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional41
HP:0003319HP:0000470Short neck1TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 1.14
HP:0003319HP:0000470Short neck1TXNDC15 CL E G H7977020652OMIM:6198792
HP:0003319HP:0000470Short neck1UBE2A CL E G H731912472OMIM:300860MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN7
HP:0003319HP:0000470Short neck1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0003319HP:0000470Short neck1UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2.23
HP:0003319HP:0000470Short neck1UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040283 - Occasional23
HP:0003319HP:0000470Short neck1VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040283 - Occasional1
HP:0003319HP:0000470Short neck1VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0003319HP:0000470Short neck1WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome.20
HP:0003319HP:0000470Short neck1WASHC5 CL E G H989728984ORPHA:73C syndromeHP:0040283 - Occasional83
HP:0003319HP:0000470Short neck1WDPCP CL E G H5105728027ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional60
HP:0003319HP:0000470Short neck1WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0003319HP:0000470Short neck1WNT4 CL E G H5436112783ORPHA:247768Müllerian aplasia and hyperandrogenismHP:0040283 - Occasional4
HP:0003319HP:0000470Short neck1WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040283 - Occasional98
HP:0003319HP:0000470Short neck1WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0003319HP:0000470Short neck1WNT7A CL E G H747612786ORPHA:2879Phocomelia, Schinzel typeHP:0040282 - Frequent13
HP:0003319HP:0000470Short neck1WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency.13
HP:0003319HP:0000470Short neck1XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0003319HP:0000470Short neck1XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndromeHP:0040281 - Very frequent14
HP:0003319HP:0000470Short neck1XYLT2 CL E G H6413215517ORPHA:85194Spondylo-ocular syndromeHP:0040281 - Very frequent5
HP:0003319HP:0000470Short neck1YWHAE CL E G H753112851ORPHA:21738517p13.3 microduplication syndromeHP:0040282 - Frequent14
HP:0003319HP:0000470Short neck1ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0003319HP:0000470Short neck1ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0003319HP:0041167Fractured cervical vertebra2 CL E G H
HP:0003319HP:0008469Cervical vertebral dysplasia2ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctataHP:0040283 - Occasional
HP:0003319HP:0011041Aplasia/Hypoplasia of the cervical spine2ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctata
HP:0003319HP:0003320C1-C2 subluxation2ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctataHP:0040283 - Occasional
HP:0003319HP:0005905Abnormal cervical curvature2ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctata
HP:0003319HP:0005905Abnormal cervical curvature2CHRNA1 CL E G H11341955OMIM:253290Multiple pterygium syndrome, Lethal type.74
HP:0003319HP:0005905Abnormal cervical curvature2CHRND CL E G H11441965OMIM:253290Multiple pterygium syndrome, Lethal type.88
HP:0003319HP:0005905Abnormal cervical curvature2CHRNG CL E G H11461967OMIM:253290Multiple pterygium syndrome, Lethal type.68
HP:0003319HP:0005905Abnormal cervical curvature2CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndrome27
HP:0003319HP:0003320C1-C2 subluxation2COL2A1 CL E G H12802200OMIM:184250Spondyloepimetaphyseal dysplasia, Strudwick type.284
HP:0003319HP:0003320C1-C2 subluxation2DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type.45
HP:0003319HP:0004558Cervical platyspondyly2DHX37 CL E G H5764717210OMIM:618731NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC2
HP:0003319HP:0005905Abnormal cervical curvature2DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndrome13
HP:0003319HP:0011041Aplasia/Hypoplasia of the cervical spine2EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0003319HP:0005905Abnormal cervical curvature2FLNB CL E G H23173755ORPHA:56305Atelosteogenesis type IIIHP:0040283 - Occasional233
HP:0003319HP:0005905Abnormal cervical curvature2FLNB CL E G H23173755OMIM:108721Atelosteogenesis, type III233
HP:0003319HP:0005905Abnormal cervical curvature2FLNB CL E G H23173755OMIM:150250Larsen syndrome233
HP:0003319HP:0011041Aplasia/Hypoplasia of the cervical spine2FLNB CL E G H23173755OMIM:150250Larsen syndrome233
HP:0003319HP:0008456C2-C3 subluxation2FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome.233
HP:0003319HP:0004558Cervical platyspondyly2FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS.43
HP:0003319HP:0004571Widening of cervical spinal canal2GLE1 CL E G H27334315OMIM:253310Lethal congenital contracture syndrome 1.45
HP:0003319HP:0005905Abnormal cervical curvature2HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0003319HP:0008480Cervical spondylosis2HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0003319HP:0003320C1-C2 subluxation2IDUA CL E G H34255391OMIM:607014Hurler syndrome115
HP:0003319HP:0003320C1-C2 subluxation2MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0003319HP:0003320C1-C2 subluxation2MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy64
HP:0003319HP:0011041Aplasia/Hypoplasia of the cervical spine2POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0003319HP:0008469Cervical vertebral dysplasia2POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040283 - Occasional138
HP:0003319HP:0005905Abnormal cervical curvature2RIPPLY2 CL E G H13470121390OMIM:616566Spondylocostal dysostosis 6, autosomal recessive3
HP:0003319HP:0011041Aplasia/Hypoplasia of the cervical spine2SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0003319HP:0005905Abnormal cervical curvature2SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0003319HP:0005905Abnormal cervical curvature2SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II166
HP:0003319HP:0011041Aplasia/Hypoplasia of the cervical spine2SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia166
HP:0003319HP:0005905Abnormal cervical curvature2SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia166
HP:0003319HP:0011041Aplasia/Hypoplasia of the cervical spine2SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasia166
HP:0003319HP:0011041Aplasia/Hypoplasia of the cervical spine2SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4166
HP:0003319HP:0005905Abnormal cervical curvature2SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4166
HP:0003319HP:0005905Abnormal cervical curvature2SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0003319HP:0011041Aplasia/Hypoplasia of the cervical spine2SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0003319HP:0011041Aplasia/Hypoplasia of the cervical spine2TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasia214
HP:0003319HP:0004558Cervical platyspondyly2TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski typeHP:0040283 - Occasional214
HP:0003319HP:0008461Cervical vertebral facet hypoplasia3 CL E G H
HP:0003319HP:0008459Cervical vertebral agenesis3 CL E G H
HP:0003319HP:0041086Compression-fractured cervical vertebra3 CL E G H
HP:0003319HP:0008434Hypoplastic cervical vertebrae3ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctataHP:0040283 - Occasional
HP:0003319HP:0002947Cervical kyphosis3ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctataHP:0040283 - Occasional
HP:0003319HP:0002947Cervical kyphosis3CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040282 - Frequent27
HP:0003319HP:0002947Cervical kyphosis3DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040282 - Frequent13
HP:0003319HP:0008434Hypoplastic cervical vertebrae3EBP CL E G H106823133ORPHA:35173X-linked dominant chondrodysplasia punctata51
HP:0003319HP:0002947Cervical kyphosis3FLNB CL E G H23173755OMIM:108721Atelosteogenesis, type III.233
HP:0003319HP:0008434Hypoplastic cervical vertebrae3FLNB CL E G H23173755OMIM:150250Larsen syndrome.233
HP:0003319HP:0002947Cervical kyphosis3FLNB CL E G H23173755OMIM:150250Larsen syndrome.233
HP:0003319HP:0002947Cervical kyphosis3HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0003319HP:0008434Hypoplastic cervical vertebrae3POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0003319HP:0002947Cervical kyphosis3RIPPLY2 CL E G H13470121390OMIM:616566Spondylocostal dysostosis 6, autosomal recessive.3
HP:0003319HP:0008434Hypoplastic cervical vertebrae3SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040283 - Occasional166
HP:0003319HP:0002947Cervical kyphosis3SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040283 - Occasional166
HP:0003319HP:0002947Cervical kyphosis3SLC26A2 CL E G H183610994OMIM:256050Atelosteogenesis, type II166
HP:0003319HP:0008434Hypoplastic cervical vertebrae3SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia.166
HP:0003319HP:0002947Cervical kyphosis3SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia.166
HP:0003319HP:0008434Hypoplastic cervical vertebrae3SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasiaHP:0040281 - Very frequent166
HP:0003319HP:0008434Hypoplastic cervical vertebrae3SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4HP:0040283 - Occasional166
HP:0003319HP:0002947Cervical kyphosis3SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4HP:0040283 - Occasional166
HP:0003319HP:0008434Hypoplastic cervical vertebrae3SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia.109
HP:0003319HP:0002947Cervical kyphosis3SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0003319HP:0008434Hypoplastic cervical vertebrae3TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasiaHP:0040281 - Very frequent214


Genes (410) :ABCC9 ACAN ACTA1 ACTB ACTG1 ADA2 ADAT3 AEBP1 AFF3 AIFM1 ALDOA ALG8 ALG9 AMMECR1 ANKRD11 ANKRD55 ANTXR2 AP5Z1 APC ARL6 ARSL ARVCF ATP6V1B2 ATRX B3GALT6 B3GAT3 B3GLCT BAP1 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BGN BMPER BPTF BRAF BRD4 BRF1 BUB1B C2CD3 CANT1 CBL CCDC22 CCDC8 CCN6 CD247 CD96 CDH11 CDK5 CEP19 CEP290 CEP55 CFAP418 CFL2 CHN1 CHRNA1 CHRND CHRNG CHST14 CHST3 CLDN11 COG1 COG5 COG7 COL11A1 COL11A2 COL12A1 COL2A1 COL6A1 COL6A2 COL6A3 COMP COMT CREBBP CRLF1 CSGALNACT1 CTDP1 CTNND2 CUL4B CUL7 DCC DDR2 DDRGK1 DHCR7 DHX37 DLK1 DLL3 DOK7 DONSON DPYD DSE DVL1 DVL3 DYM DYRK1A EBP ECEL1 EFNB1 EMD EP300 ERCC1 ERCC2 ERCC5 ERCC6 ERMARD ESCO2 EXOC6B EXOSC9 EXTL3 FAM20C FANCB FANCI FANCL FBN2 FGD1 FGFR1 FGFR2 FGFR3 FHL1 FKRP FLI1 FLNB FN1 FOXA2 FTO FUCA1 FZD2 GALNS GATA1 GATA4 GDF3 GDF6 GJA5 GJA8 GLB1 GLE1 GLI2 GMPPB GNAS GNPTG GNS GP1BB GPC3 GPC4 GPC6 GPKOW GPX4 GUSB GZF1 H4C5 HBA1 HBA2 HDAC4 HDAC8 HES7 HESX1 HIRA HNRNPR HPDL HRAS HS2ST1 HSPA9 HSPG2 HTRA1 IDH1 IDS IDUA IFT140 IFT172 IFT27 IFT74 IGBP1 IL2RA IL2RB IL6ST INPPL1 INTS1 INTU JMJD1C KCNH1 KCNJ8 KCNN3 KIAA0586 KIF7 KIFBP KLHL41 KNSTRN KRAS LAMA5 LARGE1 LFNG LHX3 LHX4 LIFR LMOD3 LMX1B LZTFL1 LZTR1 MADD MAFB MAN1B1 MAN2B1 MAP2K1 MAP2K2 MAPK1 MAPRE2 MECP2 MED12 MED13L MEG3 MEGF8 MEOX1 MESP2 MGAT2 MICU1 MKKS MKS1 MMP2 MPL MRPL12 MRPS28 MSL3 MUSK MYH3 MYL11 MYO18B NAA10 NALCN NANS NBAS NBN NEB NEK9 NF1 NIPBL NKX3-2 NLRP1 NOTCH2 NOTCH3 NPHP1 NRAS NUP188 NUP88 NXN OBSL1 OFD1 OTUD6B OTX2 PAFAH1B1 PAICS PALB2 PAM16 PGAP1 PGAP2 PGAP3 PHGDH PIEZO2 PIGA PIGL PIGN PIGO PIGV PIGW PIGY PIK3CD PKDCC PLXNA1 POGZ POLE POLR3A POMT1 POMT2 POP1 POU1F1 PPP1CB PPP1R15B PRMT7 PROP1 PSAT1 PSMD12 PTCH1 PTPN11 PTPN2 PTPN22 PUF60 RAB23 RAB33B RAB5IF RAD21 RAF1 RB1 RDH11 RFT1 RIPK4 RIPPLY2 RIT1 RMRP RNU4ATAC ROBO3 ROR2 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RREB1 RSPRY1 RTL1 RYR1 SALL4 SATB2 SCAPER SCYL2 SDCCAG8 SEC24C SEMA5A SETBP1 SF3B4 SHOC2 SHOX SKI SLC26A2 SLC2A1 SLC35D1 SMAD3 SMAD4 SMARCAL1 SMC1A SMC3 SMPD4 SMS SNRPN SOS1 SOS2 SOX9 SPRED1 SPRED2 SRCAP STAT4 STX16 STXBP1 TAF1 TALDO1 TAPT1 TBCK TBL1XR1 TBR1 TBX1 TBX15 TBX2 TBX6 TCF4 TCTN2 TECPR2 TFAP2A TGDS TGFB3 TGFBR1 THPO TIMM50 TMCO1 TNNI2 TNNT3 TOR1A TPM2 TRAPPC2 TRAPPC9 TRIM32 TRIP11 TRMT10A TRPV4 TSR2 TTC8 TUBB TXNDC15 UBE2A UFD1 UNC80 VPS33A WAC WASHC5 WDPCP WDR35 WNT4 WNT5A WNT7A XYLT1 XYLT2 YWHAE ZC4H2

Diseases (401) :OMIM:239850 ORPHA:1517 ORPHA:171866 OMIM:612813 ORPHA:171436 ORPHA:2995 OMIM:243310 OMIM:614583 ORPHA:124 ORPHA:363528 OMIM:618000 OMIM:619297 OMIM:300232 OMIM:611881 OMIM:608104 ORPHA:79328 OMIM:608776 OMIM:263210 OMIM:300990 ORPHA:2332 OMIM:148050 ORPHA:85408 ORPHA:2176 ORPHA:306511 ORPHA:261584 ORPHA:110 ORPHA:79345 ORPHA:567 ORPHA:3473 OMIM:616455 OMIM:309580 ORPHA:536467 OMIM:271640 OMIM:245600 ORPHA:709 OMIM:261540 OMIM:619762 OMIM:300989 OMIM:608022 ORPHA:66637 ORPHA:529962 ORPHA:1340 OMIM:115150 OMIM:613707 OMIM:163950 OMIM:613706 ORPHA:199 ORPHA:444072 OMIM:616202 OMIM:257300 ORPHA:434179 OMIM:251450 ORPHA:1425 OMIM:613563 ORPHA:7 ORPHA:2616 OMIM:614205 OMIM:208230 ORPHA:1308 ORPHA:1299 OMIM:616342 OMIM:236500 ORPHA:233 OMIM:253290 OMIM:265000 ORPHA:2953 OMIM:143095 OMIM:619328 ORPHA:263508 OMIM:611209 ORPHA:263487 ORPHA:79333 OMIM:608779 ORPHA:2021 OMIM:228520 ORPHA:1427 ORPHA:75840 OMIM:156550 ORPHA:485 OMIM:151210 OMIM:184250 OMIM:183900 ORPHA:94068 ORPHA:93315 ORPHA:750 ORPHA:353281 ORPHA:353277 OMIM:272430 ORPHA:48431 ORPHA:281 ORPHA:85293 OMIM:273750 ORPHA:2744 OMIM:271665 ORPHA:93352 OMIM:602557 ORPHA:818 OMIM:618731 ORPHA:96334 ORPHA:2311 OMIM:277300 OMIM:618389 OMIM:251230 ORPHA:1675 ORPHA:3107 OMIM:180700 OMIM:616894 OMIM:223800 ORPHA:239 ORPHA:464311 OMIM:302960 ORPHA:35173 OMIM:615065 OMIM:304110 ORPHA:98863 ORPHA:353284 ORPHA:1466 ORPHA:75857 ORPHA:3103 OMIM:268300 OMIM:618395 OMIM:618065 ORPHA:508533 ORPHA:1832 OMIM:259775 OMIM:300514 OMIM:609053 OMIM:614083 OMIM:121050 ORPHA:915 OMIM:305400 OMIM:166250 OMIM:123500 OMIM:603956 OMIM:187600 OMIM:300718 OMIM:300696 ORPHA:370968 ORPHA:2308 ORPHA:56305 OMIM:108720 OMIM:108721 ORPHA:503 OMIM:150250 OMIM:272460 ORPHA:95494 OMIM:612938 OMIM:230000 OMIM:253000 ORPHA:251071 ORPHA:2345 OMIM:118100 OMIM:612474 OMIM:230500 OMIM:253010 OMIM:611890 OMIM:253310 ORPHA:1486 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:103580 OMIM:612462 OMIM:612463 OMIM:252605 OMIM:252940 ORPHA:373 OMIM:258315 ORPHA:2570 OMIM:250220 ORPHA:584 OMIM:253220 OMIM:617662 OMIM:619950 ORPHA:98791 ORPHA:1001 OMIM:300882 ORPHA:226307 OMIM:620073 OMIM:619026 ORPHA:3071 OMIM:218040 OMIM:619194 OMIM:616854 ORPHA:1865 ORPHA:800 OMIM:255800 ORPHA:199354 ORPHA:99646 OMIM:309900 ORPHA:93473 OMIM:607014 OMIM:607016 OMIM:266920 ORPHA:52055 OMIM:300472 OMIM:619750 OMIM:258480 ORPHA:3144 OMIM:618571 OMIM:617926 OMIM:617925 OMIM:616546 OMIM:607131 OMIM:609460 OMIM:613328 OMIM:600268 OMIM:620076 OMIM:221750 ORPHA:231720 OMIM:601559 ORPHA:495818 OMIM:616564 OMIM:605275 OMIM:619004 ORPHA:397941 OMIM:614202 ORPHA:309282 OMIM:615279 OMIM:619087 OMIM:616734 OMIM:300055 OMIM:305450 ORPHA:369891 OMIM:616789 OMIM:614976 OMIM:214300 OMIM:608681 OMIM:212066 OMIM:615673 OMIM:249000 OMIM:259600 ORPHA:3319 OMIM:618951 OMIM:618958 OMIM:301032 OMIM:208150 OMIM:193700 OMIM:178110 OMIM:618469 ORPHA:1147 OMIM:619110 OMIM:616549 OMIM:300855 OMIM:616266 ORPHA:371364 OMIM:610442 OMIM:614800 ORPHA:647 OMIM:617022 OMIM:601321 OMIM:122470 OMIM:613330 OMIM:615225 ORPHA:955 OMIM:102500 OMIM:130720 ORPHA:2789 OMIM:613224 OMIM:618804 OMIM:618393 ORPHA:1507 OMIM:612921 OMIM:300209 ORPHA:505237 OMIM:617452 ORPHA:217385 OMIM:619859 OMIM:610832 OMIM:613320 OMIM:615802 ORPHA:247262 OMIM:256520 OMIM:114300 OMIM:248700 OMIM:300868 ORPHA:2059 ORPHA:280633 OMIM:616809 OMIM:618821 OMIM:619955 ORPHA:468678 OMIM:616364 OMIM:618336 ORPHA:3455 OMIM:264090 OMIM:617396 OMIM:617506 ORPHA:391408 OMIM:617157 ORPHA:464288 OMIM:616038 ORPHA:284417 ORPHA:77301 OMIM:151100 ORPHA:508488 ORPHA:508498 OMIM:615583 OMIM:201000 OMIM:615222 OMIM:616994 OMIM:611554 OMIM:611553 ORPHA:1587 ORPHA:436245 OMIM:612015 OMIM:263650 OMIM:616566 OMIM:615355 OMIM:607095 ORPHA:175 ORPHA:2636 OMIM:210710 OMIM:268310 OMIM:105650 ORPHA:457395 OMIM:616723 OMIM:619542 ORPHA:251028 OMIM:618766 OMIM:269150 ORPHA:798 OMIM:154400 OMIM:607721 ORPHA:314795 OMIM:182212 ORPHA:93298 ORPHA:56304 OMIM:256050 OMIM:222600 ORPHA:628 ORPHA:93307 ORPHA:168577 OMIM:269250 OMIM:613795 OMIM:139210 OMIM:242900 ORPHA:1830 OMIM:300590 OMIM:610759 OMIM:618622 OMIM:309583 ORPHA:177907 OMIM:610733 OMIM:616559 ORPHA:140 OMIM:114290 OMIM:611431 OMIM:619745 ORPHA:2044 OMIM:136140 OMIM:300966 OMIM:606003 OMIM:616897 ORPHA:488632 ORPHA:487825 OMIM:602342 ORPHA:1617 ORPHA:93333 OMIM:618223 ORPHA:1797 OMIM:122600 ORPHA:2896 OMIM:610954 OMIM:613885 ORPHA:320385 OMIM:615031 OMIM:113620 OMIM:616145 OMIM:615582 OMIM:609192 OMIM:617698 ORPHA:1394 OMIM:213980 OMIM:618947 ORPHA:93284 OMIM:313400 OMIM:613192 ORPHA:93299 OMIM:200600 OMIM:616033 OMIM:113500 ORPHA:2635 OMIM:168400 OMIM:184252 ORPHA:93314 OMIM:156610 OMIM:619879 OMIM:300860 OMIM:616801 ORPHA:505248 OMIM:617303 OMIM:616708 OMIM:613610 ORPHA:247768 ORPHA:2879 OMIM:276820 OMIM:615777 ORPHA:85194 OMIM:314580 OMIM:301041
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.