Dyskinetic Cerebral Palsy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Disease Ontology: ¹¹ A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions.

MalaCards based summary: Dyskinetic Cerebral Palsy, also known as athetoid cerebral palsy, is related to dystonia and movement disease, and has symptoms including bradykinesia and abnormality of extrapyramidal motor function. An important gene associated with Dyskinetic Cerebral Palsy is MRPS25 (Mitochondrial Ribosomal Protein S25), and among its related pathways/superpathways are Metabolism of proteins and Viral mRNA Translation. Affiliated tissues include globus pallidus, brain and eye, and related phenotypes are no effect and no effect

GARD: ¹⁹ A form of dyskinetic cerebral palsy with slow, writhing movements that are often repetitive, sinuous, and rhythmic.

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Related Diseases for Dyskinetic Cerebral Palsy

Diseases related to Dyskinetic Cerebral Palsy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)

#	Related Disease	Score	Top Affiliating Genes
1	dystonia	30.7	SGCE PCDH12 GCDH ADCY5
2	movement disease	30.4	SGCE GNAO1 GCDH ADCY5
3	choreatic disease	29.8	SGCE GPR88 GNAO1 ADCY5
4	intellectual disability - athetosis - microphthalmia	11.8
5	cerebral palsy	11.6
6	ceroid lipofuscinosis, neuronal, 3	11.5
7	cerebral palsy, ataxic, autosomal recessive	11.2
8	papillon-lefevre syndrome	11.1
9	asphyxia neonatorum	10.5
10	cardiofaciocutaneous syndrome 1	10.4
11	spastic paraplegia 35, autosomal recessive, with or without neurodegeneration	10.4
12	spastic cerebral palsy	10.4
13	hereditary spastic paraplegia 35	10.4
14	bilirubin metabolic disorder	10.4
15	neonatal hypoxic and ischemic brain injury	10.4
16	macs syndrome	10.4
17	spasticity	10.4
18	neuronal ceroid lipofuscinosis	10.4
19	spondylosis	10.4
20	radiculopathy	10.3
21	cervical dystonia	10.3
22	microcephaly	10.3
23	kernicterus	10.3
24	encephalopathy	10.3
25	spondylosis, cervical	10.2
26	spinal stenosis	10.2
27	torticollis	10.2
28	ocular motility disease	10.2
29	epilepsy	10.2
30	learning disability	10.2
31	behcet syndrome	10.1
32	polycystic liver disease 1 with or without kidney cysts	10.1
33	ataxia with vitamin e deficiency	10.1
34	polydactyly	10.1
35	scoliosis	10.1
36	spinal disease	10.1
37	respiratory failure	10.1
38	quadriplegia	10.1
39	hyperuricemia	10.1
40	exostosis	10.1
41	spondylolysis	10.1
42	nutritional deficiency disease	10.1
43	speech disorder	10.1
44	pathologic nystagmus	10.1
45	multiple congenital anomalies/dysmorphic syndrome-intellectual disability	10.1
46	chorea, benign hereditary	10.1
47	huntington disease	10.1
48	optic nerve hypoplasia, bilateral	10.1
49	septooptic dysplasia	10.1
50	corpus callosum, agenesis of	10.1

Graphical network of the top 20 diseases related to Dyskinetic Cerebral Palsy:

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Symptoms & Phenotypes for Dyskinetic Cerebral Palsy

UMLS symptoms related to Dyskinetic Cerebral Palsy:

bradykinesia; abnormality of extrapyramidal motor function

GenomeRNAi Phenotypes related to Dyskinetic Cerebral Palsy according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.05	ADCY5 ATAD3A ATP8A2 GCDH GNAO1 GPR88
2	no effect	GR00402-S-2	10.05	ADCY5 ATP8A2 GCDH GNAO1 MRPL11 MRPL24

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Drugs & Therapeutics for Dyskinetic Cerebral Palsy

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	A Randomized, Double-Blind, Placebo-Controlled Study of TEV-50717 (Deutetrabenazine) for the Treatment of Dyskinesia in Cerebral Palsy in Children and Adolescents	Completed	NCT03813238	Phase 3	Deutetrabenazine;Placebo
2	An Open-Label, Long-Term Safety, Tolerability, and Efficacy Study of TEV-50717 (Deutetrabenazine) for the Treatment of Dyskinesia in Cerebral Palsy in Children and Adolescents (Open RECLAIM-DCP)	Recruiting	NCT04200352	Phase 3	TEV-50717
3	Efficacy of Axial Stability on Improving Gait and Balance Performance in Children With Dyskinetic Cerebral Palsy	Completed	NCT03037697
4	Functional Benefits of Multisite Surgery for the Upper Limb of Children With Cerebral Palsy	Recruiting	NCT04395729
5	Effect of Deep Brain Stimulation in the Globus Pallidus Internus on Quality of Life in Young Patients With Dyston-dyskinetic Cerebral Palsy	Active, not recruiting	NCT02097693

Search NIH Clinical Center for Dyskinetic Cerebral Palsy

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Genetic Tests for Dyskinetic Cerebral Palsy

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Anatomical Context for Dyskinetic Cerebral Palsy

Organs/tissues related to Dyskinetic Cerebral Palsy:

MalaCards : Globus Pallidus, Brain, Eye, Spinal Cord, Appendix, Thyroid, Lung

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Publications for Dyskinetic Cerebral Palsy

Articles related to Dyskinetic Cerebral Palsy:

(show top 50) (show all 326)

#	Title	Authors	PMID	Year
1	Eye movements and stress during eye-tracking gaming performance in children with dyskinetic cerebral palsy. ⁶²	Bekteshi S...Monbaliu E	35393636	2022
2	A novel investigation of eye-gaze as an access method for children with dyskinetic cerebral palsy. ⁶²	Stadskleiv K	35598090	2022
3	Combined Anterior-Posterior Fusion Versus Posterior Alone Fusion for Cervical Myelopathy in Athetoid-Cerebral Palsy. ⁶²	Kim GU...Lee GW	33487049	2022
4	Surgical outcomes of cervical myelopathy in patients with athetoid cerebral palsy. ⁶²	Harada T...Adachi N	34455477	2022
5	Exercise load and physical activity intensity in relation to dystonia and choreoathetosis during powered wheelchair mobility in children and youth with dyskinetic cerebral palsy. ⁶²	Bekteshi S...Monbaliu E	33970729	2022
6	Gabapentin as Add-on Therapy to Trihexyphenidyl in Children with Dyskinetic Cerebral Palsy: A Randomized, Controlled Trial. ⁶²	Kumar S...Dabla S	35867274	2022
7	A retrospective cohort study about hip luxation in non-ambulatory cerebral palsy patients: The point of no return. ⁶²	Faccioli S...Benedetti MG	35800654	2022
8	Home-Based Measurements of Dystonia in Cerebral Palsy Using Smartphone-Coupled Inertial Sensor Technology and Machine Learning: A Proof-of-Concept Study. ⁶²	den Hartog D...Haberfehlner H	35746168	2022
9	Brivaracetam for dyskinetic cerebral palsy. ⁶²	Papaliagkas V...Kimiskidis VK	35653104	2022
10	Accommodations to cognitive assessment for a child with dyskinetic cerebral palsy: case study. ⁶²	Karlsson P...Honan I	35730760	2022
11	Effect of targeted movement interventions on pain and quality of life in children with dyskinetic cerebral palsy: a pilot single subject research design to test feasibility of parent-reported assessments. ⁶²	Smith N...Gibson N	35544592	2022
12	A Novel Technique for Occipitocervical Fusion with Triple Rod Connection to Prevent Implant Failure. ⁶²	Eto F...Yamazaki M	35693373	2022
13	Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2. ⁶²	Narishige Y...Haginoya K	35321980	2022
14	Quality of Life After Deep Brain Stimulation of Pediatric Patients with Dyskinetic Cerebral Palsy: A Prospective, Single-Arm, Multicenter Study with a Subsequent Randomized Double-Blind Crossover (STIM-CP). ⁶²	Koy A...STIM-CP investigators	34967053	2022
15	Attainment of personal goals in the first year of intrathecal baclofen treatment in dyskinetic cerebral palsy: a prospective cohort study. ⁶²	Bonouvrie LA...IDYS Study Group	35387541	2022
16	Using both electromyography and movement disorder assessment improved the classification of children with dyskinetic cerebral palsy. ⁶²	Lorentzen J...Hoei-Hansen CE	34655503	2022
17	Psychometric properties of upper limb kinematics during functional tasks in children and adolescents with dyskinetic cerebral palsy. ⁶²	Vanmechelen I...Monbaliu E	36149848	2022
18	Measuring the impact of dyskinesia on function in children with dyskinetic cerebral palsy. ⁶²	Himmelmann K	34297844	2021
19	The Dyskinetic Cerebral Palsy Functional Impact Scale: development and validation of a new tool. ⁶²	Stewart K...Harvey A	34145577	2021
20	The immediate effect of different loads does not alter muscle co-activation of the upper limb in young adults with dyskinetic cerebral palsy. ⁶²	Lucareli PRG...Politti F	34482220	2021
21	Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects. ⁶²	van Karnebeek CD...Horvath GA	34213677	2021
22	Hyperbilirubinemia and Asphyxia in Children With Dyskinetic Cerebral Palsy. ⁶²	Saini AG...Singhi P	34023554	2021
23	Acquired Os Odentoideum Due to Cervical Dystonia in a Child With Dyskinetic Cerebral Palsy. ⁶²	Carpenter BM...Pham K	32543019	2021
24	Childhood neurodevelopmental outcomes of survivors of acute bilirubin encephalopathy: A retrospective cohort study. ⁶²	Kumar V...Panda NK	33990043	2021
25	Clinical Profile and Outcome of Indian Children with Aromatic L-Amino Acid Decarboxylase Deficiency: A primary CSF Neurotransmitter Disorder Mimicking as Dyskinetic Cerebral Palsy. ⁶²	Gowda VK...Shivappa SK	33996177	2021
26	Clinical Presentation of Spasticity and Passive Range of Motion Deviations in Dyskinetic Cerebral Palsy in Relation to Dystonia, Choreoathetosis, and Functional Classification Systems. ⁶²	Bekteshi S...Monbaliu E	33356718	2021
27	Upper Extremity Strengthening for an Individual With Dyskinetic Cerebral Palsy: A Case Report. ⁶²	Graber L...Senesac C	33653985	2021
28	Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma. ⁶²	Foran J...McSweeney N	33728242	2021
29	Functional outcomes of children with dyskinetic cerebral palsy depend on etiology and gestational age. ⁶²	Kitai Y...Arai H	33246885	2021
30	'Imaging and genetic information link aetiological mechanisms, structural brain injury patterns and functional outcomes in dyskinetic cerebral palsy in Osaka.' ⁶²		33556747	2021
31	Risk factors for hip dislocation in dyskinetic cerebral palsy. ⁶²	Okuno K...Arai H	33745368	2021
32	A Retrospective Longitudinal Study in a Cohort of Children With Dyskinetic Cerebral Palsy Treated With Tetrabenazine. ⁶²	Scalise R...Battini R	33716922	2021
33	Can spatial filtering separate voluntary and involuntary components in children with dyskinetic cerebral palsy? ⁶²	Borish CN...Sanger TD	33852638	2021
34	Dystonia and choreoathetosis presence and severity in relation to powered wheelchair mobility performance in children and youth with dyskinetic cerebral palsy. ⁶²	Bekteshi S...Monbaliu E	32868197	2020
35	Eye Gaze Gaming Intervention in Children with Dyskinetic Cerebral Palsy: A Pilot Study of Task Performance and Its Relation with Dystonia and Choreoathetosis. ⁶²	Bekteshi S...Monbaliu E	32496837	2020
36	Chorea in children: etiology, diagnostic approach and management. ⁶²	Baizabal-Carvallo JF...Cardoso F	32776155	2020
37	Dyskinesia Impairment Scale scores in Dutch pre-school children after neonatal therapeutic hypothermia. ⁶²	Kuiper MJ...Neonatal neurologic Assessment Group	32950367	2020
38	Deep brain stimulation reduces pain in children with dystonia, including in dyskinetic cerebral palsy. ⁶²	Perides S...Kaminska M	32386250	2020
39	Reliability and Validity of the Dyskinesia Impairment Scale in Children and Young Adults with Inherited or Idiopathic Dystonia. ⁶²	Danielsson A...Tedroff K	32796550	2020
40	Congenital Malformations in Children With Cerebral Palsy: Is Prematurity Protective? ⁶²	Severe M...Oskoui M	32386793	2020
41	Delayed Diagnoses of SGCE Myoclonus-Dystonia. ⁶²	Varga MG...LeDoux MS	32775037	2020
42	Movement Disorders - Childhood Rating Scale 4-18 revised in children with dyskinetic cerebral palsy. ⁶²	Battini R...MD-CRS Group	31976641	2020
43	More Than 10-year Follow-up After Laminoplasty and Pedicle Screw Fixation for Cervical Myelopathy Associated With Athetoid Cerebral Palsy. ⁶²	Demura S...Tsuchiya H	31977680	2020
44	Presence and severity of dystonia and choreoathetosis overflow movements in participants with dyskinetic cerebral palsy and their relation with functional classification scales. ⁶²	Vanmechelen I...Monbaliu E	30620229	2020
45	Use of the Dyskinesia Impairment Scale in non-ambulatory dyskinetic cerebral palsy. ⁶²	Haberfehlner H...Buizer AI	31784988	2020
46	Test-retest reliability of the Dyskinesia Impairment Scale: measuring dystonia and choreoathetosis in dyskinetic cerebral palsy. ⁶²	Vanmechelen I...Monbaliu E	31833574	2020
47	A questionnaire survey on the efficacy of various treatments for dyskinetic cerebral palsy due to preterm bilirubin encephalopathy. ⁶²	Kitai Y...Arai H	32063420	2020
48	A motor learning therapeutic intervention for a child with cerebral palsy through a social assistive robot. ⁶²	Buitrago JA...Caicedo Bravo E	30806105	2020
49	Instrumented assessment of motor function in dyskinetic cerebral palsy: a systematic review. ⁶²	Haberfehlner H...Buizer AI	32138731	2020
50	BCAP31-related syndrome: The first de novo report. ⁶²	Rinaldi B...de Ravel T	31330203	2020

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Genes for Dyskinetic Cerebral Palsy

Genes related to Dyskinetic Cerebral Palsy (0 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	MRPS25	Mitochondrial Ribosomal Protein S25	Protein Coding	6.64	DISEASES inferred ¹⁴
2	ADCY5	Adenylate Cyclase 5	Protein Coding	6.35	DISEASES inferred ¹⁴
3	PCDH12	Protocadherin 12	Protein Coding	6.08	DISEASES inferred ¹⁴
4	MRPL24	Mitochondrial Ribosomal Protein L24	Protein Coding	5.89	DISEASES inferred ¹⁴
5	MRPL44	Mitochondrial Ribosomal Protein L44	Protein Coding	5.8	DISEASES inferred ¹⁴
6	MRPS18C	Mitochondrial Ribosomal Protein S18C	Protein Coding	5.77	DISEASES inferred ¹⁴
7	SGCE	Sarcoglycan Epsilon	Protein Coding	5.75	DISEASES inferred ¹⁴
8	ATP8A2	ATPase Phospholipid Transporting 8A2	Protein Coding	5.72	DISEASES inferred ¹⁴
9	MRPL11	Mitochondrial Ribosomal Protein L11	Protein Coding	5.54	DISEASES inferred ¹⁴
10	GCDH	Glutaryl-CoA Dehydrogenase	Protein Coding	5.48	DISEASES inferred ¹⁴
11	MRPL4	Mitochondrial Ribosomal Protein L4	Protein Coding	5.46	DISEASES inferred ¹⁴
12	GPR88	G Protein-Coupled Receptor 88	Protein Coding	5.46	DISEASES inferred ¹⁴
13	MRPS22	Mitochondrial Ribosomal Protein S22	Protein Coding	5.44	DISEASES inferred ¹⁴
14	GNAO1	G Protein Subunit Alpha O1	Protein Coding	5.41	DISEASES inferred ¹⁴
15	MRPS14	Mitochondrial Ribosomal Protein S14	Protein Coding	5.36	DISEASES inferred ¹⁴
16	ATAD3A	ATPase Family AAA Domain Containing 3A	Protein Coding	5.3	DISEASES inferred ¹⁴

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Variations for Dyskinetic Cerebral Palsy

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Expression for Dyskinetic Cerebral Palsy

Search GEO for disease gene expression data for Dyskinetic Cerebral Palsy.

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Pathways for Dyskinetic Cerebral Palsy

Pathways related to Dyskinetic Cerebral Palsy according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism of proteins ⁶⁶ Show member pathways Post-translational protein modification ⁶⁶	13.29	MRPS25 MRPS22 MRPS18C MRPS14 MRPL44 MRPL4
2	Viral mRNA Translation ⁶⁶ Show member pathways "Metabolism of ingested SeMet, Sec, MeSec into H2Se" ⁶⁶ Amino acids regulate mTORC1 ⁶⁶ Cap-dependent Translation Initiation ⁶⁶ Cellular response to starvation ⁶⁶ CFTR translational fidelity (class I mutations) ²² Cytoplasmic ribosomal proteins ⁷⁴ Defective PAPSS2 causes SEMD-PA ⁶⁶ Eukaryotic Translation Elongation ⁶⁶ Eukaryotic Translation Initiation ⁶⁶ Eukaryotic Translation Termination ⁶⁶ Formation of a pool of free 40S subunits ⁶⁶ GTP hydrolysis and joining of the 60S ribosomal subunit ⁶⁶ L13a-mediated translational silencing of Ceruloplasmin expression ⁶⁶ Metabolism of ingested H2SeO4 and H2SeO3 into H2Se ⁶⁶ Metabolism of ingested MeSeO2H into MeSeH ⁶⁶ Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) ⁶⁶ Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) ⁶⁶ Nonsense-Mediated Decay (NMD) ⁶⁶ Peptide chain elongation ⁶⁶ Response of EIF2AK4 (GCN2) to amino acid deficiency ⁶⁶ Selenoamino acid metabolism ⁶⁶ Selenocysteine synthesis ⁶⁶ SRP-dependent cotranslational protein targeting to membrane ⁶⁶ sulfate activation for sulfonation ⁶¹ Translation ⁶⁶	12.93	MRPS25 MRPS22 MRPS18C MRPS14 MRPL44 MRPL4
3	Mitochondrial translation ⁶⁶ Show member pathways Mitochondrial translation elongation ⁶⁶ Mitochondrial translation initiation ⁶⁶ Mitochondrial translation termination ⁶⁶	11.77	MRPS25 MRPS22 MRPS18C MRPS14 MRPL44 MRPL4

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GO Terms for Dyskinetic Cerebral Palsy

Cellular components related to Dyskinetic Cerebral Palsy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrion	GO:0005739	10.35	MRPS25 MRPS22 MRPS18C MRPS14 MRPL44 MRPL4
2	mitochondrial large ribosomal subunit	GO:0005762	9.92	MRPL44 MRPL4 MRPL24 MRPL11
3	mitochondrial inner membrane	GO:0005743	9.91	MRPS25 MRPS22 MRPS18C MRPS14 MRPL44 MRPL4
4	mitochondrial ribosome	GO:0005761	9.88	MRPS22 MRPS14 MRPL11
5	mitochondrial small ribosomal subunit	GO:0005763	9.86	MRPS14 MRPS18C MRPS22 MRPS25
6	ribosome	GO:0005840	9.76	MRPS25 MRPS22 MRPS18C MRPS14 MRPL44 MRPL4
7	ribonucleoprotein complex	GO:1990904	9.23	MRPS25 MRPS22 MRPS18C MRPS14 MRPL44 MRPL4

Biological processes related to Dyskinetic Cerebral Palsy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	translation	GO:0006412	9.61	MRPS18C MRPS14 MRPL4 MRPL24 MRPL11
2	mitochondrial translation	GO:0032543	9.53	MRPS25 MRPS22 MRPS18C MRPS14 MRPL44 MRPL4

Molecular functions related to Dyskinetic Cerebral Palsy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	structural constituent of ribosome	GO:0003735	9.53	MRPS25 MRPS22 MRPS18C MRPS14 MRPL44 MRPL4

Sources

Sources for Dyskinetic Cerebral Palsy

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 24-Oct-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: DYS001 MIFTS: 36	Dyskinetic Cerebral Palsy Categories: Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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