PedAM

Pediatric Disease Annotations & Medicines


	cervical dystonia

Disease ID	1191
Disease	cervical dystonia
Definition	A common form of DYSTONIA due to involuntary sustained or spasmodic, repetitive muscle contractions in the neck region. According to the position of the twisted neck and head, cervical dystonia can be categorized as torticollis, laterocollis, retrocollis, and a combination of these abnormal postures.
Synonym	cervical dystonias dystonia cervical
DOID	DOID:0050840
UMLS	C0949445
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:8) C0013421 \| dystonia \| 3 C0005747 \| blepharospasm \| 1 C0037317 \| sleep disturbances \| 1 C0039494 \| temporomandibular disorder \| 1 C0743332 \| focal dystonia \| 1 C0039494 \| temporomandibular disorders \| 1 C0037317 \| sleep disturbance \| 1 C0037928 \| myelopathy \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 348 \| APOE \| infer 627 \| BDNF \| infer 1816 \| DRD5 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:89) 90956 \| ADCK2 \| DISEASES 3028 \| HSD17B10 \| DISEASES 990 \| CDC6 \| DISEASES 9342 \| SNAP29 \| DISEASES 4849 \| CNOT3 \| DISEASES 57030 \| SLC17A7 \| DISEASES 7431 \| VIM \| DISEASES 51166 \| AADAT \| DISEASES 4617 \| MYF5 \| DISEASES 80325 \| ABTB1 \| DISEASES 1026 \| CDKN1A \| DISEASES 8773 \| SNAP23 \| DISEASES 259232 \| NALCN \| DISEASES 55145 \| THAP1 \| DISEASES 3021 \| H3F3B \| DISEASES 63982 \| ANO3 \| DISEASES 27429 \| HTRA2 \| DISEASES 7274 \| TTPA \| DISEASES 5582 \| PRKCG \| DISEASES 57679 \| ALS2 \| DISEASES 8622 \| PDE8B \| DISEASES 64083 \| GOLPH3 \| DISEASES 5373 \| PMM2 \| DISEASES 6687 \| SPG7 \| DISEASES 10939 \| AFG3L2 \| DISEASES 6531 \| SLC6A3 \| DISEASES 6872 \| TAF1 \| DISEASES 55364 \| IMPACT \| DISEASES 9510 \| ADAMTS1 \| DISEASES 1293 \| COL6A3 \| DISEASES 4131 \| MAP1B \| DISEASES 4714 \| NDUFB8 \| DISEASES 123169 \| LEO1 \| DISEASES 55720 \| TSR1 \| DISEASES 478 \| ATP1A3 \| DISEASES 1816 \| DRD5 \| DISEASES 119764 \| OR4X2 \| DISEASES 5763 \| PTMS \| DISEASES 85478 \| CCDC65 \| DISEASES 8575 \| PRKRA \| DISEASES 1149 \| CIDEA \| DISEASES 10749 \| KIF1C \| DISEASES 4729 \| NDUFV2 \| DISEASES 1812 \| DRD1 \| DISEASES 2774 \| GNAL \| DISEASES 5521 \| PPP2R2B \| DISEASES 23583 \| SMUG1 \| DISEASES 3117 \| HLA-DQA1 \| DISEASES 1861 \| TOR1A \| DISEASES 8736 \| MYOM1 \| DISEASES 83658 \| DYNLRB1 \| DISEASES 5169 \| ENPP3 \| DISEASES 2996 \| GYPE \| DISEASES 617 \| BCS1L \| DISEASES 1201 \| CLN3 \| DISEASES 773 \| CACNA1A \| DISEASES 4134 \| MAP4 \| DISEASES 116841 \| SNAP47 \| DISEASES 3020 \| H3F3A \| DISEASES 5071 \| PARK2 \| DISEASES 114836 \| SLAMF6 \| DISEASES 1369 \| CPN1 \| DISEASES 1486 \| CTBS \| DISEASES 6418 \| SET \| DISEASES 25792 \| CIZ1 \| DISEASES 7321 \| UBE2D1 \| DISEASES 3118 \| HLA-DQA2 \| DISEASES 90121 \| TSR2 \| DISEASES 4958 \| OMD \| DISEASES 1282 \| COL4A1 \| DISEASES 7918 \| GPANK1 \| DISEASES 6311 \| ATXN2 \| DISEASES 10528 \| NOP56 \| DISEASES 3239 \| HOXD13 \| DISEASES 64400 \| AKTIP \| DISEASES 64115 \| C10orf54 \| DISEASES 2643 \| GCH1 \| DISEASES 4905 \| NSF \| DISEASES 29965 \| CDIP1 \| DISEASES 8910 \| SGCE \| DISEASES 4152 \| MBD1 \| DISEASES 627 \| BDNF \| DISEASES 10682 \| EBP \| DISEASES 6949 \| TCOF1 \| DISEASES 51428 \| DDX41 \| DISEASES 6207 \| RPS13 \| DISEASES 6999 \| TDO2 \| DISEASES 820 \| CAMP \| DISEASES 102723508 \| KANTR \| DISEASES
Locus	(Waiting for update.)

Disease ID	1191
Disease	cervical dystonia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:23) HP:0001337 \| Tremor \| 8 HP:0001332 \| Dystonia \| 3 HP:0012531 \| Pain \| 3 HP:0002315 \| Headaches \| 2 HP:0000473 \| Spasmodic torticollis \| 2 HP:0000234 \| Head abnormality \| 1 HP:0012049 \| Spasmodic dysphonia \| 1 HP:0002360 \| Sleep disturbance \| 1 HP:0002487 \| Muscle spasms \| 1 HP:0002174 \| Postural tremor \| 1 HP:0100022 \| Movement disorder \| 1 HP:0004373 \| Focal dystonia \| 1 HP:0000643 \| Spontaneous closure of eyelid \| 1 HP:0002451 \| Limb dystonia \| 1 HP:0000708 \| Behavioral problems \| 1 HP:0002880 \| Respiratory difficulties \| 1 HP:0012318 \| Occipital neuralgia \| 1 HP:0002196 \| Myelopathy \| 1 HP:0001618 \| Dysphonia \| 1 HP:0001336 \| Myoclonic jerks \| 1 HP:0002544 \| Retrocollis \| 1 HP:0002378 \| Hand tremor \| 1 HP:0000734 \| Disinhibition \| 1

Disease ID	1191
Disease	cervical dystonia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:11) C2598155 \| pain C2364114 \| tremor C2096315 \| headache C0872410 \| posturing C0694563 \| excessive daytime sleepiness C0598608 \| hyperhomocysteinemia C0442874 \| neuropathy C0235169 \| excitability C0235081 \| limb tremor C0151293 \| chronic headache C0011168 \| dysphagia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:5) C0040822 \| tremor \| 8 C0030193 \| pain \| 3 C0018681 \| headache \| 2 C0235169 \| excitability \| 1 C0872410 \| posturing \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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