MCID: CNG506
MIFTS: 27

Congenital Amyoplasia

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Congenital Amyoplasia

MalaCards integrated aliases for Congenital Amyoplasia:

Name: Congenital Amyoplasia 58
Amyoplasia Congenita 58
Arthrogryposis 71

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA488586
UMLS 71 C0003886

Summaries for Congenital Amyoplasia

MalaCards based summary : Congenital Amyoplasia, also known as amyoplasia congenita, is related to distal arthrogryposis and intestinal atresia, and has symptoms including muscle weakness, arthralgia and myalgia. The drugs Everolimus and Somatostatin have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and brain.

Related Diseases for Congenital Amyoplasia

Diseases related to Congenital Amyoplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 distal arthrogryposis 10.5
2 intestinal atresia 10.3
3 alkuraya-kucinskas syndrome 10.2
4 contractural arachnodactyly, congenital 10.2
5 hyperostosis frontalis interna 10.2
6 leigh syndrome 10.2
7 hyperostosis 10.2
8 gastroenteritis 10.2
9 mitochondrial disorders 10.2
10 congenital articular rigidity 10.2
11 leptin deficiency or dysfunction 10.1
12 hypotonia 10.1

Graphical network of the top 20 diseases related to Congenital Amyoplasia:



Diseases related to Congenital Amyoplasia

Symptoms & Phenotypes for Congenital Amyoplasia

UMLS symptoms related to Congenital Amyoplasia:


muscle weakness, arthralgia, myalgia, muscle cramp, metatarsalgia, muscle rigidity, muscle spasticity

Drugs & Therapeutics for Congenital Amyoplasia

Drugs for Congenital Amyoplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 75)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 4 159351-69-6 70789204 6442177
2
Somatostatin Approved, Investigational Phase 3 38916-34-6, 51110-01-1 53481605
3
Pravastatin Approved Phase 3 81093-37-0 54687
4
Octreotide Approved, Investigational Phase 3 83150-76-9 383414 6400441
5
Tolvaptan Approved Phase 3 150683-30-0 216237
6
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
7
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
8
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030 46835353
9
tannic acid Approved Phase 2, Phase 3 1401-55-4
10
Benzocaine Approved, Investigational Phase 2, Phase 3 94-09-7, 1994-09-7 2337
11 Triptolide Investigational Phase 3 38748-32-2
12 Contraceptive Agents, Male Phase 3
13 Alkylating Agents Phase 3
14 Contraceptive Agents Phase 3
15 Calcineurin Inhibitors Phase 3
16 Hypolipidemic Agents Phase 3
17 Lipid Regulating Agents Phase 3
18 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
19 Anticholesteremic Agents Phase 3
20 Antimetabolites Phase 3
21 Antineoplastic Agents, Hormonal Phase 3
22 Pharmaceutical Solutions Phase 3
23 Gastrointestinal Agents Phase 3
24 Hormones Phase 3
25 Vasopressins Phase 3
26 Arginine Vasopressin Phase 3
27 Immunosuppressive Agents Phase 2, Phase 3
28 Immunologic Factors Phase 2, Phase 3
29 Anti-Bacterial Agents Phase 2, Phase 3
30 Antibiotics, Antitubercular Phase 2, Phase 3
31 Anti-Infective Agents Phase 2, Phase 3
32 Antifungal Agents Phase 2, Phase 3
33 Antihypertensive Agents Phase 2, Phase 3
34
Angiotensin II Approved, Investigational Phase 2 4474-91-3, 11128-99-7, 68521-88-0 172198
35
Candesartan cilexetil Approved Phase 2 145040-37-5 2540
36
Pasireotide Approved Phase 2 396091-73-9 9941444
37
Sodium citrate Approved, Investigational Phase 2 68-04-2
38
Metformin Approved Phase 2 657-24-9 14219 4091
39
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
40
Cilnidipine Investigational Phase 2 132203-70-4 5282138
41
Imidapril Investigational Phase 2 89371-37-9 5464343
42
Candesartan Experimental Phase 2 139481-59-7 2541
43 Angiotensinogen Phase 2
44 Angiotensin Receptor Antagonists Phase 2
45 Angiotensin-Converting Enzyme Inhibitors Phase 2
46 Giapreza Phase 2
47 HIV Protease Inhibitors Phase 2
48
protease inhibitors Phase 2
49 calcium channel blockers Phase 2
50 Hormone Antagonists Phase 2

Interventional clinical trials:

(show top 50) (show all 65)
# Name Status NCT ID Phase Drugs
1 A Multicenter, Randomized, Placebo-controlled, Double-blind Study on the Efficacy, Safety and Tolerability of Everolimus in Preventing End-stage Renal Disease (ESRD) in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT00414440 Phase 4 Placebo;Everolimus
2 Evaluating the Safety and effectivenesS in Adult KorEaN Patients Treated With Tolvaptan for Management of Autosomal domInAnt poLycystic Kidney Disease Recruiting NCT03949894 Phase 4 Tolvaptan
3 Subacute Effect of Tolvaptan on Total Kidney Volume in Adult Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT03596957 Phase 4 Tolvaptan
4 Randomized Controlled Trial of Triptolide-Containing Formulation for Autosomal Dominant Polycystic Kidney Disease (ADPKD) Unknown status NCT02115659 Phase 3 Triptolide-Containing Formulation;Placebo
5 A Long-term Administration Study of OPC-41061 in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) (2) [Extension of Study 156-05-002] Completed NCT01022424 Phase 3 OPC-41061
6 A Multicenter, Open-label Extension Study to Investigate the Long-term Safety and Efficacy of Tolvaptan in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) [Extension of Trial 156-04-251 in Japan] Completed NCT01280721 Phase 3 tolvaptan
7 Multi-center, Open-label, Extension Study to Evaluate the Long-term Efficacy and Safety of Oral Tolvaptan Tablet Regimens in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01214421 Phase 3 Tolvaptan
8 A Phase 3b, Multi-center, Open-label Trial to Evaluate the Long Term Safety of Immediate-release Tolvaptan (OPC-41061, 30 mg to 120 mg/Day, Split Dose) in Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT02251275 Phase 3 Tolvaptan
9 A Phase 3, Multi-center, Double-blind, Placebo-controlled, Parallel-arm Trial to Determine Long-term Safety and Efficacy of Oral Tolvaptan Tablets Regimens in Adult Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT00428948 Phase 3 Tolvaptan;Placebo
10 Sirolimus (Rapamune®) for Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD): a Randomized Controlled Study. Completed NCT00346918 Phase 3 Sirolimus
11 An Open-labelled Multicenter Randomized Study on the Efficacy of Everolimus in Reducing Total Native Kidney Volume in Kidney Transplanted Patients With Autosomal Dominant Polycystic Kidney Disease Completed NCT02134899 Phase 3 Everolimus;Calcineurin inhibitors maintenance
12 A Phase 3b, Multi-center, Randomized-withdrawal, Placebo-controlled, Double-blind, Parallel-group Trial to Compare the Efficacy and Safety of Tolvaptan (45 to 120 mg/Day, Split-dose) in Subjects With Chronic Kidney Disease Between Late Stage 2 to Early Stage 4 Due to Autosomal Dominant Polycystic Kidney Disease Completed NCT02160145 Phase 3 Tolvaptan (OPC-41061);Placebo
13 Effect of Statin Therapy on Disease Progression in Autosomal Dominant Polycystic Kidney Disease Completed NCT00456365 Phase 3 pravastatin;Placebo
14 A PROSPECTIVE, RANDOMIZED, DOUBLE-BLIND, PLACEBO CONTROLLED CLINICAL TRIAL TO ASSESS THE EFFECTS OF LONG-ACTING SOMATOSTATIN (OCTREOTIDE LAR) THERAPY ON DISEASE PROGRESSION IN PATIENTS WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE AND MODERATE TO SEVERE RENAL INSUFFICIENCY Completed NCT01377246 Phase 3 Octreotide-LAR
15 Pulsed Oral Sirolimus in Autosomal Dominant Polycystic Kidney Disease - The Vienna RAP Study Recruiting NCT02055079 Phase 3 Sirolimus;Placebo
16 A Phase 3 Trial of Bardoxolone Methyl in Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT03918447 Phase 3 Bardoxolone methyl oral capsule;Placebo oral capsule
17 A Phase 3b, Two-part, Multicenter, One Year Randomized, Double-blind, Placebo-controlled Trial of the Safety, Pharmacokinetics, Tolerability, and Efficacy of Tolvaptan Followed by a Two Year Open-label Extension in Children and Adolescent Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Active, not recruiting NCT02964273 Phase 3 Tolvaptan;Matching Placebo
18 Rapamycin as Treatment for ADPKD: The Role of Biomarkers in Predicting a Response to Therapy Terminated NCT00920309 Phase 2, Phase 3 Rapamycin
19 EFFECTS OF SIROLIMUS ON DISEASE PROGRESSION IN PATIENTS WITH AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE AND SEVERE RENAL INSUFFICIENCY Terminated NCT01223755 Phase 2, Phase 3 Sirolimus;conventional therapy
20 Phase II Study for the Second-Line Treatment of Hypertension in Patients With Autosomal Dominant Polycystic Kidney Disease; ACEI vs. CCB Unknown status NCT00890279 Phase 2 Cilnidipine;Imidapril
21 A Randomized, Open-label Study Investigating the Effect of Bilateral Renal Artery Sympathetic Denervation by Catheter-based Radiofrequency Ablation on Blood Pressure and Disease Progression in Autosomal Dominant Polycystic Kidney Disease Unknown status NCT01932450 Phase 2 antihypertensive drugs
22 A Phase 2, Multicenter, Randomized, Placebo-controlled, Double-blind, Placebo-masked, Parallel-group Pilot Trial to Compare the Efficacy, Tolerability, and Safety of Tolvaptan Modified-release and Immediate-release Formulations in Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT01451827 Phase 2 Tolvaptan MR;Tolvaptan IR;Placebo
23 Open-label Dose Escalation Study Evaluating the Safety, Tolerability, Pharmacodynamics and Pharmacokinetics of Intravenous NPSP795 in Autosomal Dominant Hypocalcemia Due to Mutations in the Calcium-sensing Receptor Gene: A Drug Repurposing Study Completed NCT02204579 Phase 2 NPSP795
24 A Long-term Administration Study of OPC-41061 in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) [Extension of Study 156-04-001] Completed NCT00841568 Phase 2 OPC-41061
25 A Phase 2, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study Of The Safety, Clinical Activity And Pharmacokinetics Of Bosutinib (PF-05208763) Versus Placebo In Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD) Completed NCT01233869 Phase 2 Bosutinib;Bosutinib;Placebo
26 A Phase 2, Open-Label, Multi-Center Study to Evaluate the Safety, Pharmacokinetics and Pharmacodynamics of Lixivaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease Completed NCT03487913 Phase 2 Lixivaptan
27 Effects of Power Mobility on the Development and Function of Young Children With Severe Motor Impairments Completed NCT01028833 Phase 2
28 A Phase 2a, Single-center Study Investigating the Short-term Renal Hemodynamic Effects, Safety and Pharmacokinetics/ Pharmacodynamics of Oral Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease at Various Stages of Renal Function Completed NCT01336972 Phase 2 Tolvaptan
29 A Randomized, Placebo Controlled Clinical Trial of SOM230 (Pasireotide LAR) In Severe Polycystic Liver Disease Completed NCT01670110 Phase 2 Pasireotide LAR;Placebo
30 A Phase 2, Multi-center, Open-label Study to Determine Long-term Safety, Tolerability and Efficacy of Split-dose Oral Regimens of Tolvaptan Tablets in a Range of 30 to 120 mg/d in Patients With Autosomal Dominant Polycystic Kidney Disease Completed NCT00413777 Phase 2 Tolvaptan
31 Pravastatin and Alkali Therapy in Patients With Autosomal Dominant Polycystic Kidney Disease Recruiting NCT04284657 Phase 2 Pravastatin;sodium citrate
32 A Prospective First-In-Human Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa (adRP) Due to the P23H Mutation in the RHO Gene Recruiting NCT04123626 Phase 1, Phase 2 QR-1123
33 A Double-blind Randomized Parallel Group Study of the Efficacy and Safety of Tesevatinib in Subjects With Autosomal Dominant Polycystic Kidney Disease Active, not recruiting NCT03203642 Phase 2 Tesevatinib;Placebo
34 Metformin as a Novel Therapy for Autosomal Dominant Polycystic Kidney Disease Active, not recruiting NCT02656017 Phase 2 Metformin
35 Cross Sectional Study of Autosomal Dominant Opticus Atrophy Unknown status NCT01522638
36 WREX Outcome Study Unknown status NCT02218593
37 Efficacy Study of Long-term Water Intake on the Progression of Autosomal Dominant Polycystic Kidney Disease (ADPKD). Completed NCT01348035
38 Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci / Genes Completed NCT01235624
39 A Multi-center, Longitudinal, Observational Study of Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) to Establish the Rate, Characteristics, and Determinants of Disease Progression Completed NCT01430494
40 Mutational Types and Phenotypes Relationship in Autosomal Dominant Polycystic Kidney Disease Completed NCT02322385
41 Pilot and Feasibility Study: Evaluation of New Quantitative Magnetic Resonance Imaging Parameters in Assessing the Kidneys of Autosomal Dominant Polycystic Kidney Disease Completed NCT02250287
42 Iron Therapy for Autosomal Dominant Hypophosphatemic Rickets: A Pilot Completed NCT02233322
43 An Innovative Device for Intervention in Infants With Nervous System Injury Completed NCT01959581
44 Assessment of Adrenal Functions in Patients With Autosomal Dominant Polycystic Kidney Disease Completed NCT00598377 Tetracosactin
45 A New Diet for Patients With Autosomal Dominant Polycystic Disease (ADPKD) Completed NCT01810614
46 Water as Therapy in Autosomal Dominant Polycystic Kidney Disease Completed NCT00759369
47 Pilot Study of RNA as a Biomarker for Autosomal Dominant Polycystic Kidney Disease Completed NCT01114594
48 The Kidneys Ability to Concentrate and Dilute Urine in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) or Other Cause of Chronic Renal Disease Compared to Healthy Volunteers Completed NCT04363554
49 Evaluation and Treatment of Chronic Pain in Autosomal Dominant Polycystic Kidney Disease Completed NCT00571909
50 The Effect of High and Low Sodium Intake on Urinary Aquaporin-2 in Autosomal Dominant Polycystic Kidney Disease, During Basal Conditions and After Hypertonic Saline Infusion. Completed NCT00410007

Search NIH Clinical Center for Congenital Amyoplasia

Genetic Tests for Congenital Amyoplasia

Anatomical Context for Congenital Amyoplasia

MalaCards organs/tissues related to Congenital Amyoplasia:

40
Kidney, Liver, Brain, Bone, Skeletal Muscle, Skin, Spinal Cord

Publications for Congenital Amyoplasia

Articles related to Congenital Amyoplasia:

(show top 50) (show all 1999)
# Title Authors PMID Year
1
Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy. 61
32537934 2020
2
Arthrogryposis is a descriptive term, not a specific disease entity: escobar syndrome is an Example. 61
32536119 2020
3
A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders. 61
32092148 2020
4
Findings, Phenotypes, Diagnostic Accuracy, and Treatment in Freeman-Burian Syndrome. 61
32149971 2020
5
Molecular alterations in the extracellular matrix in the brains of newborns with congenital Zika syndrome. 61
32518143 2020
6
Elbow Release and Tricepsplasty in Arthrogrypotic Patients: A Long-Term Follow-Up Study. 61
31537399 2020
7
Restoration of Elbow Flexion With a Free Functional Gracilis Muscle Transfer in an Arthrogrypotic Patient Using a Motor Nerve to Pectoralis Major. 61
32507010 2020
8
Early-onset Nucleotide Excision Repair disorders with neurological impairment: clues for early diagnosis and prognostic counselling. 61
32557569 2020
9
Prenatal diagnosis of cerebro-oculo-facio-skeletal syndrome: Report of three fetuses and review of the literature. 61
32052936 2020
10
Which Acetabular Landmarks are the Most Useful for Measuring the Acetabular Index and Center-edge Angle in Developmental Dysplasia of the Hip? A Comparison of Two Methods. 61
32379138 2020
11
Proximal Junctional Kyphosis After Posterior Spinal Fusion for Severe Kyphoscoliosis in a Patient With PIEZO2-deficient Arthrogryposis Syndrome. 61
31770315 2020
12
Arthrogryposis Multiplex Congenita and limitation of mouth opening: presentation of a case and review of the literature. 61
32450320 2020
13
Bone densities and bone geometry in children and adolescents with arthrogryposis. 61
32464275 2020
14
Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans. 61
31960134 2020
15
Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency. 61
32392656 2020
16
Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6. 61
31846058 2020
17
Participation among Children with Arthrogryposis Multiplex Congenita: A Scoping Review. 61
32299279 2020
18
Distal Arthrogryposis: A Clue to the Etiology of Neonatal Cholestasis. 61
32239418 2020
19
The genomic and clinical landscape of fetal akinesia. 61
31680123 2020
20
A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1. 61
31880396 2020
21
Orthopedic findings in arthrogryposis and congenital Zika syndrome: A case series. 61
31891236 2020
22
A mild phenotype of LGI4-Related arthrogryposis multiplex congenita with intrafamilial variability. 61
31513940 2020
23
Cerebral Palsy in Children With Congenital Zika Syndrome: A 2-Year Neurodevelopmental Follow-up. 61
31718421 2020
24
Early open reduction of dislocated hips using a modified Smith-Petersen approach in arthrogyposis multiplex congenita. 61
32131798 2020
25
Anterior Distal Hemiepiphysiodesis of Tibia for Treatment of Recurrent Equinus Deformity Due to Flat-Top Talus in Surgically Treated Clubfoot. 61
32131014 2020
26
Myasthaenia gravis in pregnancy, delivery and newborn. 61
32153161 2020
27
An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Questions. 61
31463585 2020
28
Novel SPEG variant cause centronuclear myopathy in China. 61
31625632 2020
29
An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Answers. 61
31463586 2020
30
Patient-reported Outcomes in Arthrogryposis. 61
32040062 2020
31
The 5-Year Outcome of the Ponseti Method in Children With Idiopathic Clubfoot and Arthrogryposis. 61
32032217 2020
32
50 Years Ago in TheJournalofPediatrics: Arthrogryposis Multiplex Congenita: A Clinical Investigation. 61
32040413 2020
33
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. 61
31660661 2020
34
Orthopaedic care of the child with arthrogryposis: a 2020 overview. 61
31743218 2020
35
Body wall defects and amniotic band syndrome in pig (Sus scrofa domesticus). 61
31513296 2020
36
X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype. 61
31932168 2020
37
The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D. 61
32566668 2020
38
CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review. 61
32328110 2020
39
Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L769V Mutation in SCN4A. 61
32117035 2020
40
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 61
30690204 2020
41
Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B. 61
31746383 2020
42
Posterior Elbow Capsulotomy and Triceps Lengthening for Elbow Extension Contracture in Children with Arthrogryposis Multiplex Congenita. 61
32368405 2020
43
Uterine Torsion Dystocia Complicated by Perosomus Elumbis in an Angus Calf Associated with a Consanguineous Mating. 61
32095313 2020
44
Tension band plate-guided growth of knee-flexion deformity in arthrogryposis multiplex congenita in which metaphyseal funnelization induced screw encroachment upon the neurovascular bundle. 61
31305362 2020
45
Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy. 61
31791363 2019
46
Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis. 61
31504653 2019
47
Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree. 61
31836586 2019
48
[THE CONGENITAL TRIGGER THUMB - CLINICAL PRESENTATION AND TREATMENT]. 61
31823534 2019
49
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. 61
31206972 2019
50
Novel missense mutation in VPS33B is associated with isolated low gamma-glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome. 61
31479177 2019

Variations for Congenital Amyoplasia

Expression for Congenital Amyoplasia

Search GEO for disease gene expression data for Congenital Amyoplasia.

Pathways for Congenital Amyoplasia

GO Terms for Congenital Amyoplasia

Sources for Congenital Amyoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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