Human Phenotype Ontology 
Grandparent Node:
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Abnormality of head or neck (HP:0000152)help
Parent Node:
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Abnormality of the musculature (HP:0003011)help
Parent Node:
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Abnormality of the neck (HP:0000464)help
..Starting node
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Abnormal morphology of the musculature of the neck (HP:0011006)help
Term ID: 11006
Name: Abnormal morphology of the musculature of the neck
Synonym: Abnormality of cervical musculature; Abnormality of the musculature of the neck; Neck muscle issue
Definition: An abnormality of the neck musculature.
Comments:
Reference: HP:0011006
Genes and Diseases:
 
       Child Nodes:
........expandNeck muscle weakness (HP:0000467) help
................... HP:0003722 Neck flexor weakness
........expandTorticollis (HP:0000473) help
................... HP:0002544 Retrocollis
........expandCongenital muscular torticollis (HP:0005988) help
........expandNeck muscle hypertrophy (HP:0012893) help
........expandAbnormality of platysma (HP:3000013) help
........expandAbnormality of geniohyoid muscle (HP:3000046) help

 Sister Nodes: 
..expandAbnormal lateral cricoarytenoid muscle morphology (HP:3000067) help
..expandAbnormal neck blood vessel morphology (HP:3000037) help
..expandBranchial anomaly (HP:0009794) help
..expandBroad neck (HP:0000475) help
..expandCystic hygroma (HP:0000476) help
..expandIncreased adipose tissue around the neck (HP:0000468) help
..expandLimitation of neck motion (HP:0005986) help
..expandLong neck (HP:0000472) help
..expandLow posterior hairline (HP:0002162) help
..expandNeck muscle hypoplasia (HP:0008984) help
..expandRedundant neck skin (HP:0005989) help
..expandShort neck (HP:0000470) help
..expandThickened nuchal skin fold (HP:0000474) help
..expandWebbed neck (HP:0000465) 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:0011006HP:0011006Abnormal morphology of the musculature of the neck0ACTA1 CL E G H58129ORPHA:97240Zebra body myopathy96
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvement17
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0ANO3 CL E G H6398214004OMIM:615034Dystonia 2417
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0ATP1A3 CL E G H478801OMIM:128235Dystonia 12150
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonism150
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome38
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0CACNA1A CL E G H7731388ORPHA:71518Benign paroxysmal torticollis of infancy449
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0CACNA1A CL E G H7731388ORPHA:97Familial paroxysmal ataxia449
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome2
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0CEP85L CL E G H38711921638OMIM:618873LISSENCEPHALY 10; LIS101
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 type16
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich type65
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndrome65
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0COL6A1 CL E G H12912211OMIM:158810Bethlem myopathy 1442
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich type442
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1442
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0COL6A2 CL E G H12922212OMIM:158810Bethlem myopathy 1478
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich type478
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1478
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0COL6A3 CL E G H12932213OMIM:158810Bethlem myopathy 1702
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich type702
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0COL6A3 CL E G H12932213OMIM:616411Dystonia 27702
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1702
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 29
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0CP CL E G H13562295ORPHA:48818Aceruloplasminemia115
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0CP CL E G H13562295OMIM:604290ACERULOPLASMINEMIA115
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0DRD2 CL E G H18133023ORPHA:36899Myoclonus-dystonia syndrome16
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0FLI1 CL E G H23133749ORPHA:370348Peripheral primitive neuroectodermal tumor8
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystonia86
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0GDAP2 CL E G H5483418010OMIM:618369Spinocerebellar ataxia, autosomal recessive 27
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0GDF3 CL E G H95734218ORPHA:2345Isolated Klippel-Feil syndrome7
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0GDF6 CL E G H3922554221ORPHA:2345Isolated Klippel-Feil syndrome64
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0GDF6 CL E G H3922554221OMIM:118100Klippel-Feil syndrome 1, autosomal dominant64
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0GNAL CL E G H27744388ORPHA:329466Autosomal dominant focal dystonia, DYT25 type13
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0GNAL CL E G H27744388OMIM:615073Dystonia 2513
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0HPCA CL E G H32085144OMIM:224500Dystonia 2, torsion, autosomal recessive4
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0HPCA CL E G H32085144ORPHA:99657Primary dystonia, DYT2 type4
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystonia1
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0ITGA7 CL E G H36796143OMIM:613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency127
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 1317
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0KCNN2 CL E G H37816291OMIM:619724DYSTONIA 34, MYOCLONIC; DYT34
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0KCTD17 CL E G H7973425705OMIM:616398Dystonia 26, myoclonic1
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0KCTD17 CL E G H7973425705ORPHA:36899Myoclonus-dystonia syndrome1
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 5838
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset11
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1140
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0MEOX1 CL E G H42227013ORPHA:2345Isolated Klippel-Feil syndrome5
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0MYF5 CL E G H46177565OMIM:618155Ophthalmoplegia, external, with rib and vertebral anomalies
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0NAA10 CL E G H826018704ORPHA:276432Ogden syndrome23
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 19
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 109
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystonia27
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0PNKD CL E G H259539153ORPHA:98810Paroxysmal non-kinesigenic dyskinesia66
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0PNKD CL E G H259539153OMIM:118800Paroxysmal nonkinesigenic dyskinesia 166
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome10
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0PPP2R5D CL E G H55289312OMIM:616355Mental retardation, autosomal dominant 3510
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0PRDX3 CL E G H109359354OMIM:619862
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0PRKRA CL E G H85759438OMIM:612067Dystonia 1637
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0PRKRA CL E G H85759438ORPHA:210571Dystonia 1637
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0PRRT2 CL E G H11247630500ORPHA:98810Paroxysmal non-kinesigenic dyskinesia94
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0RNF170 CL E G H8179025358OMIM:619686SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG853
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0ROBO3 CL E G H6422113433OMIM:607313Gaze palsy, familial horizontal, with progressive scoliosis, 190
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy4
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0SGCE CL E G H891010808OMIM:159900Dystonia 11, myoclonic49
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0SGCE CL E G H891010808ORPHA:36899Myoclonus-dystonia syndrome49
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosis6
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosis287
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosis54
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0SYNGAP1 CL E G H883111497OMIM:612621Mental retardation, autosomal dominant 5108
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0TBP CL E G H690811588ORPHA:98759Spinocerebellar ataxia type 177
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 3558
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 3558
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0THAP1 CL E G H5514520856OMIM:602629Dystonia 6, torsion42
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0THAP1 CL E G H5514520856ORPHA:98806Primary dystonia, DYT6 type42
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant47
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0TOR1A CL E G H18613098ORPHA:36899Myoclonus-dystonia syndrome47
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy214
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation64
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0TUBB4A CL E G H1038220774OMIM:128101Dystonia 4, torsion, autosomal dominant66
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 type66
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0VPS11 CL E G H5582314583OMIM:619637DYSTONIA 32; DYT321
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0011006HP:0011006Abnormal morphology of the musculature of the neck0ZNF142 CL E G H770112927OMIM:618425Neurodevelopmental disorder with impaired speech and hyperkinetic movements
HP:0011006HP:3000013Abnormal platysma muscle morphology1 CL E G H
HP:0011006HP:0034342Trapezius muscle aplasia1 CL E G H
HP:0011006HP:3000046Abnormal geniohyoid muscle morphology1 CL E G H
HP:0011006HP:0000473Torticollis1ACTA1 CL E G H58129ORPHA:97240Zebra body myopathyHP:0040281 - Very frequent96
HP:0011006HP:0000473Torticollis1ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0011006HP:0000473Torticollis1ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0011006HP:0000473Torticollis1ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0011006HP:0000473Torticollis1ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvementHP:0040282 - Frequent17
HP:0011006HP:0000473Torticollis1ANO3 CL E G H6398214004OMIM:615034Dystonia 24.17
HP:0011006HP:0000473Torticollis1ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome.100
HP:0011006HP:0000473Torticollis1ATP1A3 CL E G H478801OMIM:128235Dystonia 12.150
HP:0011006HP:0000473Torticollis1ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonismHP:0040282 - Frequent150
HP:0011006HP:0000473Torticollis1B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040283 - Occasional38
HP:0011006HP:0000473Torticollis1CACNA1A CL E G H7731388ORPHA:71518Benign paroxysmal torticollis of infancyHP:0040281 - Very frequent449
HP:0011006HP:0000473Torticollis1CACNA1A CL E G H7731388ORPHA:97Familial paroxysmal ataxiaHP:0040283 - Occasional449
HP:0011006HP:0000473Torticollis1CDK10 CL E G H85581770OMIM:617694Al Kaissi syndrome.2
HP:0011006HP:0000473Torticollis1CEP85L CL E G H38711921638OMIM:618873LISSENCEPHALY 10; LIS101
HP:0011006HP:0000473Torticollis1CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 typeHP:0040282 - Frequent16
HP:0011006HP:0012893Neck muscle hypertrophy1CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 typeHP:0040282 - Frequent16
HP:0011006HP:0000473Torticollis1CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0011006HP:0000473Torticollis1COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent65
HP:0011006HP:0005988Congenital muscular torticollis1COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndromeHP:0040283 - Occasional65
HP:0011006HP:0005988Congenital muscular torticollis1COL6A1 CL E G H12912211OMIM:158810Bethlem myopathy 1.442
HP:0011006HP:0000473Torticollis1COL6A1 CL E G H12912211OMIM:158810Bethlem myopathy 1.HP:0003577 - Congenital onset442
HP:0011006HP:0000473Torticollis1COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent442
HP:0011006HP:0000473Torticollis1COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0011006HP:0000473Torticollis1COL6A2 CL E G H12922212OMIM:158810Bethlem myopathy 1.HP:0003577 - Congenital onset478
HP:0011006HP:0005988Congenital muscular torticollis1COL6A2 CL E G H12922212OMIM:158810Bethlem myopathy 1.478
HP:0011006HP:0000473Torticollis1COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent478
HP:0011006HP:0000473Torticollis1COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0011006HP:0005988Congenital muscular torticollis1COL6A3 CL E G H12932213OMIM:158810Bethlem myopathy 1.702
HP:0011006HP:0000473Torticollis1COL6A3 CL E G H12932213OMIM:158810Bethlem myopathy 1.HP:0003577 - Congenital onset702
HP:0011006HP:0000473Torticollis1COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent702
HP:0011006HP:0000473Torticollis1COL6A3 CL E G H12932213OMIM:616411Dystonia 27702
HP:0011006HP:0000473Torticollis1COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0011006HP:0000473Torticollis1COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 2.9
HP:0011006HP:0000473Torticollis1COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0011006HP:0000473Torticollis1CP CL E G H13562295OMIM:604290ACERULOPLASMINEMIA.115
HP:0011006HP:0000473Torticollis1CP CL E G H13562295ORPHA:48818AceruloplasminemiaHP:0040283 - Occasional115
HP:0011006HP:0000473Torticollis1DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0011006HP:0000473Torticollis1DRD2 CL E G H18133023ORPHA:36899Myoclonus-dystonia syndromeHP:0040282 - Frequent16
HP:0011006HP:0000473Torticollis1FLI1 CL E G H23133749ORPHA:370348Peripheral primitive neuroectodermal tumorHP:0040283 - Occasional8
HP:0011006HP:0000473Torticollis1FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0011006HP:0000473Torticollis1GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent86
HP:0011006HP:0000473Torticollis1GCH1 CL E G H26434193OMIM:128230Dystonia, DOPA-responsive, with or without hyperphenylalaninemia86
HP:0011006HP:0000473Torticollis1GDAP2 CL E G H5483418010OMIM:618369Spinocerebellar ataxia, autosomal recessive 27.
HP:0011006HP:0005988Congenital muscular torticollis1GDF3 CL E G H95734218ORPHA:2345Isolated Klippel-Feil syndromeHP:0040282 - Frequent7
HP:0011006HP:0005988Congenital muscular torticollis1GDF6 CL E G H3922554221ORPHA:2345Isolated Klippel-Feil syndromeHP:0040282 - Frequent64
HP:0011006HP:0005988Congenital muscular torticollis1GDF6 CL E G H3922554221OMIM:118100Klippel-Feil syndrome 1, autosomal dominant64
HP:0011006HP:0000473Torticollis1GNAL CL E G H27744388ORPHA:329466Autosomal dominant focal dystonia, DYT25 typeHP:0040282 - Frequent13
HP:0011006HP:0000473Torticollis1GNAL CL E G H27744388OMIM:615073Dystonia 25.13
HP:0011006HP:0000473Torticollis1HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0011006HP:0000473Torticollis1HPCA CL E G H32085144OMIM:224500Dystonia 2, torsion, autosomal recessive.4
HP:0011006HP:0000473Torticollis1HPCA CL E G H32085144ORPHA:99657Primary dystonia, DYT2 typeHP:0040282 - Frequent4
HP:0011006HP:0000473Torticollis1IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent1
HP:0011006HP:0000473Torticollis1ITGA7 CL E G H36796143OMIM:613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency127
HP:0011006HP:0000473Torticollis1KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040283 - Occasional17
HP:0011006HP:0000473Torticollis1KCNN2 CL E G H37816291OMIM:619724DYSTONIA 34, MYOCLONIC; DYT34
HP:0011006HP:0000473Torticollis1KCTD17 CL E G H7973425705OMIM:616398Dystonia 26, myoclonic.1
HP:0011006HP:0000473Torticollis1KCTD17 CL E G H7973425705ORPHA:36899Myoclonus-dystonia syndromeHP:0040282 - Frequent1
HP:0011006HP:0000473Torticollis1KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040284 - Very rare38
HP:0011006HP:0000473Torticollis1KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0011006HP:0000473Torticollis1KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset.11
HP:0011006HP:0000473Torticollis1MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1140
HP:0011006HP:0005988Congenital muscular torticollis1MEOX1 CL E G H42227013ORPHA:2345Isolated Klippel-Feil syndromeHP:0040282 - Frequent5
HP:0011006HP:0000473Torticollis1MYF5 CL E G H46177565OMIM:618155Ophthalmoplegia, external, with rib and vertebral anomalies.
HP:0011006HP:0000473Torticollis1NAA10 CL E G H826018704ORPHA:276432Ogden syndromeHP:0040282 - Frequent23
HP:0011006HP:0000473Torticollis1NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0011006HP:0000473Torticollis1NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 19
HP:0011006HP:0000473Torticollis1NEK9 CL E G H9175418591OMIM:617022Lethal congenital contracture syndrome 10.9
HP:0011006HP:0000473Torticollis1NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2
HP:0011006HP:0000473Torticollis1NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent27
HP:0011006HP:0000473Torticollis1PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0011006HP:0000473Torticollis1PNKD CL E G H259539153ORPHA:98810Paroxysmal non-kinesigenic dyskinesiaHP:0040283 - Occasional66
HP:0011006HP:0000473Torticollis1PNKD CL E G H259539153OMIM:118800Paroxysmal nonkinesigenic dyskinesia 1.66
HP:0011006HP:0005988Congenital muscular torticollis1PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040284 - Very rare10
HP:0011006HP:0005988Congenital muscular torticollis1PPP2R5D CL E G H55289312OMIM:616355Mental retardation, autosomal dominant 35.10
HP:0011006HP:0000473Torticollis1PRDX3 CL E G H109359354OMIM:619862
HP:0011006HP:0000473Torticollis1PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0011006HP:0000473Torticollis1PRKRA CL E G H85759438OMIM:612067Dystonia 1637
HP:0011006HP:0000473Torticollis1PRKRA CL E G H85759438ORPHA:210571Dystonia 16HP:0040282 - Frequent37
HP:0011006HP:0000473Torticollis1PRRT2 CL E G H11247630500ORPHA:98810Paroxysmal non-kinesigenic dyskinesiaHP:0040283 - Occasional94
HP:0011006HP:0000473Torticollis1RNF170 CL E G H8179025358OMIM:619686SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG853
HP:0011006HP:0000473Torticollis1ROBO3 CL E G H6422113433OMIM:607313Gaze palsy, familial horizontal, with progressive scoliosis, 190
HP:0011006HP:0000473Torticollis1SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy.4
HP:0011006HP:0000473Torticollis1SGCE CL E G H891010808OMIM:159900Dystonia 11, myoclonic.49
HP:0011006HP:0000473Torticollis1SGCE CL E G H891010808ORPHA:36899Myoclonus-dystonia syndromeHP:0040282 - Frequent49
HP:0011006HP:0000473Torticollis1SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosis6
HP:0011006HP:0000473Torticollis1SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0011006HP:0000473Torticollis1SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosis287
HP:0011006HP:0000473Torticollis1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0011006HP:0000473Torticollis1SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosis54
HP:0011006HP:0000473Torticollis1SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0011006HP:0000473Torticollis1SYNGAP1 CL E G H883111497OMIM:612621Mental retardation, autosomal dominant 5HP:0040283 - Occasional108
HP:0011006HP:0005988Congenital muscular torticollis1SYNGAP1 CL E G H883111497OMIM:612621Mental retardation, autosomal dominant 5108
HP:0011006HP:0000473Torticollis1TBP CL E G H690811588ORPHA:98759Spinocerebellar ataxia type 17HP:0040282 - Frequent7
HP:0011006HP:0000473Torticollis1TGFB2 CL E G H704211768OMIM:614816LOEYS-DIETZ SYNDROME 4; LDS4162
HP:0011006HP:0000473Torticollis1TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 35.58
HP:0011006HP:0000473Torticollis1TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 35HP:0040283 - Occasional58
HP:0011006HP:0000473Torticollis1THAP1 CL E G H5514520856OMIM:602629Dystonia 6, torsion.42
HP:0011006HP:0000473Torticollis1THAP1 CL E G H5514520856ORPHA:98806Primary dystonia, DYT6 typeHP:0040283 - Occasional42
HP:0011006HP:0000473Torticollis1TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant.47
HP:0011006HP:0000473Torticollis1TOR1A CL E G H18613098ORPHA:36899Myoclonus-dystonia syndromeHP:0040282 - Frequent47
HP:0011006HP:0000473Torticollis1TRPV4 CL E G H5934118083OMIM:181405Scapuloperoneal spinal muscular atrophy.214
HP:0011006HP:0000473Torticollis1TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040283 - Occasional64
HP:0011006HP:0000473Torticollis1TUBB4A CL E G H1038220774OMIM:128101Dystonia 4, torsion, autosomal dominant.66
HP:0011006HP:0000473Torticollis1TUBB4A CL E G H1038220774ORPHA:98805Primary dystonia, DYT4 typeHP:0040282 - Frequent66
HP:0011006HP:0000473Torticollis1VPS11 CL E G H5582314583OMIM:619637DYSTONIA 32; DYT321
HP:0011006HP:0000473Torticollis1VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0011006HP:0000473Torticollis1ZNF142 CL E G H770112927OMIM:618425Neurodevelopmental disorder with impaired speech and hyperkinetic movements.
HP:0011006HP:0002544Retrocollis2ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0011006HP:0002544Retrocollis2ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional114
HP:0011006HP:0002544Retrocollis2FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0011006HP:0002544Retrocollis2KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onset.11
HP:0011006HP:0002544Retrocollis2MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1.140
HP:0011006HP:0002544Retrocollis2PRKRA CL E G H85759438OMIM:612067Dystonia 16.37
HP:0011006HP:0002544Retrocollis2SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional6
HP:0011006HP:0002544Retrocollis2SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional287
HP:0011006HP:0002544Retrocollis2SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional54


Genes (74) :ACTA1 ALG9 ALS2 ANO3 ATP13A2 ATP1A3 B3GALT6 CACNA1A CDK10 CEP85L CIZ1 CNP COL12A1 COL6A1 COL6A2 COL6A3 COLEC11 COX20 CP DDC DRD2 FLI1 FUS GCH1 GDAP2 GDF3 GDF6 GNAL HK1 HPCA IMPDH2 ITGA7 KCNC3 KCNN2 KCTD17 KIF1C KMT2B MAPT MEOX1 MYF5 NAA10 NAXE NEK9 NKX6-2 NR4A2 PCGF2 PNKD PPP2R5D PRDX3 PRKAR1B PRKRA PRRT2 RNF170 ROBO3 SCP2 SGCE SIGMAR1 SOX10 SPG11 SPTBN1 SPTLC1 SUPT16H SYNGAP1 TBP TGFB2 TGM6 THAP1 TOR1A TRPV4 TUBB3 TUBB4A VPS11 VPS16 ZNF142

Diseases (83) :ORPHA:97240 ORPHA:79328 OMIM:205100 ORPHA:300605 ORPHA:420485 OMIM:615034 OMIM:606693 OMIM:128235 ORPHA:71517 ORPHA:536467 ORPHA:71518 ORPHA:97 OMIM:617694 OMIM:618873 ORPHA:420492 OMIM:619071 ORPHA:75840 ORPHA:536516 OMIM:158810 OMIM:254090 OMIM:616411 OMIM:265050 OMIM:619054 ORPHA:48818 OMIM:604290 OMIM:608643 ORPHA:36899 ORPHA:370348 ORPHA:98808 OMIM:128230 OMIM:618369 ORPHA:2345 OMIM:118100 ORPHA:329466 OMIM:615073 OMIM:618547 OMIM:224500 ORPHA:99657 OMIM:613204 ORPHA:98768 OMIM:619724 OMIM:616398 ORPHA:397946 ORPHA:589618 OMIM:617284 OMIM:601104 OMIM:618155 ORPHA:276432 OMIM:300855 OMIM:617186 OMIM:617022 OMIM:617560 OMIM:618371 ORPHA:98810 OMIM:118800 ORPHA:457279 OMIM:616355 OMIM:619862 OMIM:619680 OMIM:612067 ORPHA:210571 OMIM:619686 OMIM:607313 OMIM:613724 OMIM:159900 OMIM:609136 OMIM:619475 OMIM:619480 OMIM:612621 ORPHA:98759 OMIM:614816 OMIM:613908 ORPHA:276193 OMIM:602629 ORPHA:98806 OMIM:128100 OMIM:181405 ORPHA:300570 OMIM:128101 ORPHA:98805 OMIM:619637 OMIM:619291 OMIM:618425
 

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