COMA
MCID: OCL069
MIFTS: 44

Ocular Motor Apraxia (COMA) malady

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Ocular Motor Apraxia

Aliases & Descriptions for Ocular Motor Apraxia:

Name: Ocular Motor Apraxia 54
Coma 50 51 29 41
Saccade Initiation Failure Congenital 50
Ocular Motor Apraxia, Cogan Type 56
Oculomotor Apraxia, Cogan Type 56
Oculomotor Apraxia Cogan Type 50
Congenital Oculomotor Apraxia 50
Cogan's Syndrome Type 2 50
Oculomotor Apraxia 69
Comatose 69

Characteristics:

Orphanet epidemiological data:

56
ocular motor apraxia, cogan type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

HPO:

32
ocular motor apraxia:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 257550
Orphanet 56 ORPHA1125
MESH via Orphanet 43 C537423
UMLS via Orphanet 70 C0543874
ICD10 via Orphanet 34 H51.8
ICD10 33 R40.2

Summaries for Ocular Motor Apraxia

NIH Rare Diseases : 50 oculomotor apraxia cogan type (coma) is an eye condition characterized by a defect in side-to-side (horizontal) eye movements. because of this, most patients with coma have to turn their head in order to follow objects in side gaze. typically, up-to-down (vertical) eye movements are unaffected. symptoms usually improve throughout the childhood and teenage years. coma can also be associated with mild developmental delay and speech difficulties. individuals with coma may also have kidney disorders and underdevelopment of the part of cerebellum that separates the left and right hemisphere of the brain (cerebellar vermis). when other symptoms occur, coma may be a symptom of other disorders, such as nephronophthisis or joubert syndrome. in many instances, the cause of coma is not known; however, researchers suspect that it is inherited in an autosomal recessive inheritance pattern. treatment for this condition is focused on managing the signs and symptoms in each individual. last updated: 3/24/2017

MalaCards based summary : Ocular Motor Apraxia, also known as coma, is related to hypoglycemic coma and hepatic coma, and has symptoms including oculomotor apraxia, jerky head movements and horizontal opticokinetic nystagmus. An important gene associated with Ocular Motor Apraxia is APTX (Aprataxin). The drugs Histamine and Etanercept have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and kidney.

MedlinePlus : 41 a coma is a deep state of unconsciousness. an individual in a coma is alive but unable to move or respond to his or her environment. coma may occur as a complication of an underlying illness, or as a result of injuries, such as brain injury. a coma rarely lasts more than 2 to 4 weeks. the outcome for coma depends on the cause, severity, and site of the damage. people may come out of a coma with physical, intellectual, and psychological problems. some people may remain in a coma for years or even decades. for those people, the most common cause of death is infection, such as pneumonia. nih: national institute of neurological disorders and stroke

NINDS : 51 A coma, sometimes also called persistent vegetative state, is a profound or deep state of unconsciousness. Persistent vegetative state is not brain-death. An individual in a state of coma is alive but unable to move or respond to his or her environment. Coma may occur as a complication of an underlying illness, or as a result of injuries, such as head trauma. . Individuals in such a state have lost their thinking abilities and awareness of their surroundings, but retain non-cognitive function and normal sleep patterns. Even though those in a persistent vegetative state lose their higher brain functions, other key functions such as breathing and circulation remain relatively intact. Spontaneous movements may occur, and the eyes may open in response to external stimuli. Individuals may even occasionally grimace, cry, or laugh. Although individuals in a persistent vegetative state may appear somewhat normal, they do not speak and they are unable to respond to commands.

OMIM : 54 Congenital oculomotor apraxia, first reported by Cogan (1952), is characterized by (1) defective or absent horizontal... (257550) more...

Related Diseases for Ocular Motor Apraxia

Diseases related to Ocular Motor Apraxia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 196)
id Related Disease Score Top Affiliating Genes
1 hypoglycemic coma 12.2
2 hepatic coma 12.1
3 basedow's coma 11.8
4 viral hepatitis 11.5
5 hepatic encephalopathy 11.1
6 akinetic mutism 11.1
7 persistent vegetative state 11.1
8 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.1
9 lysinuric protein intolerance 11.0
10 wernicke-korsakoff syndrome 11.0
11 hemiplegic migraine 10.9
12 metabolic acidosis 10.9
13 ornithine transcarbamylase deficiency 10.9
14 familial hemiplegic migraine 10.9
15 malaria 10.9
16 urea cycle disorder 10.9
17 insulinoma 10.9
18 cerebral hypoxia 10.9
19 hypoxia 10.9
20 central pontine myelinolysis 10.8
21 anoxia 10.8
22 sleeping sickness 10.8
23 reye syndrome 10.8
24 adrenoleukodystrophy 10.8
25 marchiafava bignami disease 10.8
26 st. louis encephalitis 10.8
27 creutzfeldt-jakob disease 10.7
28 hmg-coa lyase deficiency 10.7
29 citrullinemia, adult-onset type ii 10.7
30 hepatitis 10.7
31 n-acetylglutamate synthase deficiency 10.7
32 postinfectious encephalomyelitis 10.7
33 thiamine metabolism dysfunction syndrome 2 10.7
34 acute disseminated encephalomyelitis 10.7
35 methylmalonic acidemia 10.7
36 cerebral beriberi 10.7
37 encephalopathy, acute, infection-induced, 4 10.7
38 maple syrup urine disease, type ii 10.7
39 la crosse encephalitis 10.7
40 japanese encephalitis 10.7
41 von economo's disease 10.7
42 immune-mediated encephalomyelitis 10.7
43 isovaleric acidemia 10.7
44 west nile encephalitis 10.7
45 korsakoff's amnesic syndrome 10.7
46 apraxia 10.6
47 3-methylglutaconic aciduria, type i 10.5
48 combined malonic and methylmalonic aciduria 10.5
49 eclampsia 10.5
50 aids - neurological complications 10.5

Comorbidity relations with Ocular Motor Apraxia via Phenotypic Disease Network (PDN): (show all 17)


Active Peptic Ulcer Disease Acute Cystitis
Acute Kidney Failure Alzheimer Disease
Cardiac Arrest Chronic Kidney Failure
Decubitus Ulcer Deficiency Anemia
Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation Familial Atrial Fibrillation
Heart Disease Hypertension, Essential
Protein-Energy Malnutrition Respiratory Failure
Schizophreniform Disorder Swallowing Disorders
Ventricular Fibrillation, Familial, 1

Graphical network of the top 20 diseases related to Ocular Motor Apraxia:



Diseases related to Ocular Motor Apraxia

Symptoms & Phenotypes for Ocular Motor Apraxia

Symptoms by clinical synopsis from OMIM:

257550

Clinical features from OMIM:

257550

Human phenotypes related to Ocular Motor Apraxia:

32
id Description HPO Frequency HPO Source Accession
1 oculomotor apraxia 32 HP:0000657
2 jerky head movements 32 HP:0006961
3 horizontal opticokinetic nystagmus 32 HP:0008026

UMLS symptoms related to Ocular Motor Apraxia:


back pain, dizziness, headache, lethargy, pain, sciatica, seizures, syncope, tremor, chronic pain, transient alteration of awareness, other alteration of consciousness, reduced consciousness/confusion, vertigo/dizziness, clouded consciousness, sleeplessness, sluggishness, symptoms, central nervous system signs and symptoms, ophthalmoparesis

Drugs & Therapeutics for Ocular Motor Apraxia

Drugs for Ocular Motor Apraxia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 415)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Histamine Approved, Investigational Phase 4,Phase 3,Phase 2 75614-87-8, 51-45-6 774
2
Etanercept Approved, Investigational Phase 4,Phase 1,Phase 2 185243-69-0
3
Benzocaine Approved Phase 4,Phase 3 1994-09-7, 94-09-7 2337
4
Midazolam Approved, Illicit Phase 4,Phase 3 59467-70-8 4192
5
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 3 2078-54-8 4943
6
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613 2171
7
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
8
Diphenhydramine Approved Phase 4,Phase 2 58-73-1, 147-24-0 3100
9
Naloxone Approved, Vet_approved Phase 4,Phase 2,Phase 3 465-65-6 5284596
10
Promethazine Approved Phase 4,Phase 2 60-87-7 4927
11
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7 4594 9579578
12
Famotidine Approved Phase 4,Phase 2 76824-35-6 3325
13
Diethylcarbamazine Approved, Vet_approved Phase 4 90-89-1 3052
14
Ivermectin Approved, Vet_approved Phase 4 70288-86-7 6474909 46936176
15
Ticagrelor Approved Phase 4 274693-27-5 9871419
16
Ticlopidine Approved Phase 4 55142-85-3 5472
17
Acetylcysteine Approved, Investigational Phase 4,Phase 3 616-91-1 12035
18
Dopamine Approved Phase 4,Phase 2,Phase 3 51-61-6, 62-31-7 681
19
Zolpidem Approved Phase 4 82626-48-0 5732
20
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
21
Succinylcholine Approved Phase 4 306-40-1 5314
22
Dipivefrin Approved Phase 4 52365-63-6 3105
23
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 3 76631-46-4, 113775-47-6 68602 5311068 56032
24
Cyclosporine Approved, Investigational, Vet_approved Phase 4 79217-60-0, 59865-13-3 5284373 6435893
25
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2 22916-47-8 4189
26
Conivaptan Approved, Investigational Phase 4 210101-16-9 151171
27
Tolvaptan Approved Phase 4 150683-30-0 216237
28
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
29
Trazodone Approved, Investigational Phase 4 19794-93-5 5533
30
Melatonin Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 73-31-4 896
31 tannic acid Approved, Nutraceutical Phase 4,Phase 3
32
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Phase 1 11103-57-4, 68-26-8 445354
33
Clopidogrel Approved, Nutraceutical Phase 4 120202-66-6, 113665-84-2 60606
34
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 59-30-3 6037
35
Thiamine Approved, Nutraceutical, Vet_approved Phase 4 59-43-8 1130
36
Methylene blue Investigational Phase 4 61-73-4
37 Anti-Bacterial Agents Phase 4,Phase 3,Phase 1,Phase 2
38 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
39 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
40 Analgesics, Opioid Phase 4,Phase 3,Phase 2
41 Anesthetics Phase 4,Phase 3,Phase 2,Phase 1
42 Antiemetics Phase 4,Phase 3,Phase 2
43 Antipruritics Phase 4,Phase 3,Phase 2
44 Autonomic Agents Phase 4,Phase 3,Phase 2
45 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
46 Dermatologic Agents Phase 4,Phase 3,Phase 2
47 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Phase 1
48 Histamine Antagonists Phase 4,Phase 3,Phase 2
49 Histamine H1 Antagonists Phase 4,Phase 3,Phase 2
50
Histamine Phosphate Phase 4,Phase 3,Phase 2 51-74-1 65513

Interventional clinical trials:

(show top 50) (show all 392)
id Name Status NCT ID Phase
1 Is Sensory Stimulation Effective in Reducing Time Spent in a Coma or Vegetative State Unknown status NCT00163878 Phase 4
2 Evaluation of the Efficacy and Safety of Levothyroxine in Brain Death Organ Donors: a Randomized Controled Trial Unknown status NCT02211053 Phase 4
3 Prophylactic Antibiotics in Comatose Survivors of Out-of-hospital Cardiac Arrest Completed NCT02899507 Phase 4
4 Optimized Therapy in Severe Traumatic Brain Injured Patients Completed NCT02130674 Phase 4
5 Trial of Different Hypothermia Temperatures in Patients Recovered From Out-of-hospital Cardiac Arrest Completed NCT01155622 Phase 4
6 New Hypo-Osmolar ORS (Recommended by WHO) for Routine Use in the Diarrhea Management– Surveillance Study for Adverse Effects Completed NCT00490932 Phase 4
7 Wavefront Analisys and Contrast Sensitivity of Spherical and Aspherical Intraocular Lenses Completed NCT00347243 Phase 4
8 Single Dose Pharmacokinetics of Suboxone Study in Hepatic Impaired Subjects Completed NCT01846455 Phase 4
9 Brain Muscle Axis During Treatment of Hepatic Encephalopathy With L-ornithine L-aspartate Completed NCT01847651 Phase 4
10 The Mortality and Changes in Quality of Life of Patients Suffering From SAH With Different Hydration Strategies Completed NCT02064075 Phase 4
11 Comparison of Esomeprazole and Famotidine for Stress Ulcer Prophylaxis in Neurosurgical Intensive Care Unit Completed NCT00633035 Phase 4
12 Post-treatment Effects of Ivermectin (IVM) or Diethylcarbamazine (DEC) in Loiasis Completed NCT01593722 Phase 4
13 Antiplatelet Therapy After Cardiac Arrest Completed NCT02224274 Phase 4
14 Out-of-Hospital Intubation With Metal Single Use Laryngoscope Blades Completed NCT00644722 Phase 4
15 Efficacy of L-Ornithine L-Aspartate in Acute Hepatic Encephalopathy. Completed NCT01041755 Phase 4
16 Cerebral Oximetry As an Auxiliary Diagnostic Tool in the Diagnosis of Brain Death Completed NCT02741375 Phase 4
17 Study Evaluating Etanercept on Skin and Joint Disease in Psoriatic Arthritis Completed NCT00245960 Phase 4
18 The Role of Sleep-modulating Drugs in the Recovery of Patients With Disorders of Consciousness Recruiting NCT02948660 Phase 4
19 PROcalcitonin Pneumonia / Pneumonitis Associated With ASPIration Recruiting NCT02862314 Phase 4
20 Thiamin Deficiency in Obese Thai Children Recruiting NCT02464865 Phase 4
21 Succinylcholine vs Rocuronium for Prehospital Emergency Intubation Recruiting NCT02000674 Phase 4
22 Evaluating in Cirrhotics With Refractory Vasoplegia the Effect of Methylene Blue Recruiting NCT03120637 Phase 4
23 High Resolution Wavefront-guided vs. Wavefront Optimized LASIK Recruiting NCT02565537 Phase 4
24 Effects of Brain Beta-Amyloid on Postoperative Cognition Recruiting NCT01606488 Phase 4
25 Efficacy and Safety of Rapid Intermittent Compared With Slow Continuous Correction in Severe Hyponatremia Patients Recruiting NCT02887469 Phase 4
26 Pain, Agitation and Delirium (PAD) Protocol in the Duke CICU Not yet recruiting NCT02903407 Phase 4
27 An Open Label, Phase IV Study Evaluating the Clinical Benefit, Safety and Pharmacokinetics of Raxibacumab in Subjects Exposed to Bacillus Anthracis Not yet recruiting NCT02177721 Phase 4
28 Cyclosporine A Pretreatment and Kidney Graft Function Not yet recruiting NCT02907554 Phase 4
29 Use of Conivaptan (Vaprisol) for Hyponatremic Neuro-ICU Patients Terminated NCT00727090 Phase 4
30 IHPOTOTAM : Induced HyPOthermia TO Treat Adult Meningitis Terminated NCT00774631 Phase 4
31 Tolvaptan to Reduce Length of Stay in Hospitalized Patients With Cirrhosis and Hyponatremia Terminated NCT01890694 Phase 4
32 Study of N-Acetylcysteine in Acute Liver Failure (ALF) Terminated NCT00896025 Phase 4
33 Efficacy and Safety of Risperidone and Trazodone Monotherapy and Combination Therapy in Critically Ill Patients With Delirium Terminated NCT02118688 Phase 4
34 Antibiotic Prophylaxis for Early Ventilator-associated Pneumonia in Neurological Patients Withdrawn NCT01118403 Phase 4
35 Vagus Nerve Stimulation to Augment Recovery From Minimally Conscious or Persistently Vegetative States After Traumatic Brain Injury Unknown status NCT01260090 Phase 3
36 Mannitol as Adjunct Therapy for Childhood Cerebral Malaria Unknown status NCT00113854 Phase 3
37 Effectiveness and Safety of Angongniuhuang Pill on Restoring Consciousness for Patients Who Have Suffered From a Stroke Unknown status NCT00817609 Phase 2, Phase 3
38 Supreme-LMA for Neonatal Resuscitation: a Prospective, Randomized Single-center Study Unknown status NCT01963936 Phase 3
39 Randomized Trial of Erythropoietin During Cerebral Malaria Unknown status NCT00697164 Phase 2, Phase 3
40 Randomized, Double-blind, Placebo-controlled Trial to Investigate Safety and Efficacy of Cerebrolysin™ in Patients With Aneurysmal Subarachnoid Hemorrhage Unknown status NCT01787123 Phase 2, Phase 3
41 RICE Trial: Rifaximin In Chronic Hepatic Encephalopathy - A Randomized, Controlled Trial Unknown status NCT00364689 Phase 3
42 Efficacy of Intrarectal Versus Intravenous Quinine for the Treatment of Childhood Cerebral Malaria Unknown status NCT00124267 Phase 3
43 Early Percutaneous Tracheostomy and Swallowing Dysfunction Unknown status NCT01268423 Phase 3
44 Enteral Versus Intravenous Sedation in Critically Ill High-risk ICU Patients Unknown status NCT01360346 Phase 3
45 Effectiveness of Amantadine Hydrochloride for Treatment of Severe Traumatic Brain Injury (TBI) Completed NCT00970944 Phase 2, Phase 3
46 Effect of Epigallocatechin -3-gallate Supplementation in Traumatic Brain Injury Patients Completed NCT02731495 Phase 2, Phase 3
47 High Dose of Erythropoietin Analogue After Cardiac Arrest Completed NCT00999583 Phase 3
48 Randomized Control Trial of Fluid Therapy for Pediatric Diabetic Ketoacidosis Completed NCT01365793 Phase 3
49 Canadian Computed Tomography (CT) Head Rule Study Completed NCT00993252 Phase 3
50 Using Glucose Sensors to Prevent Hypoglycemia Completed NCT00554281 Phase 3

Search NIH Clinical Center for Ocular Motor Apraxia

Genetic Tests for Ocular Motor Apraxia

Genetic tests related to Ocular Motor Apraxia:

id Genetic test Affiliating Genes
1 Coma 29

Anatomical Context for Ocular Motor Apraxia

MalaCards organs/tissues related to Ocular Motor Apraxia:

39
Eye, Brain, Kidney, Cerebellum

Publications for Ocular Motor Apraxia

Articles related to Ocular Motor Apraxia:

(show all 34)
id Title Authors Year
1
Brothers with ocular motor apraxia, juvenile nephronophthisis, and mild cerebellar defects. ( 27316287 )
2016
2
Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study. ( 27473762 )
2016
3
Infantile-onset saccade initiation delay (congenital ocular motor apraxia). ( 25783597 )
2015
4
Pitfalls in ataxia with ocular motor apraxia type 1: pseudodominant inheritance and very late onset. ( 25845762 )
2015
5
Congenital ocular motor apraxia with wheel-rolling ocular torsion-a neurodiagnostic phenotype of Joubert syndrome. ( 25173907 )
2014
6
Do the clinical features in infantile-onset saccade initiation delay (congenital ocular motor apraxia) correlate with brain magnetic resonance imaging findings? ( 24651083 )
2014
7
Congenital ocular motor apraxia, the NPHP1 gene, and surveillance for nephronophthisis. ( 23683649 )
2013
8
From anti-GAD to ataxia with ocular motor apraxia type 2: through the looking glass. ( 23370611 )
2013
9
Neurological picture. Acquired ocular motor apraxia due to bifrontal haemorrhages. ( 22842204 )
2012
10
Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia. ( 21486904 )
2011
11
Neurodevelopmental outcomes with congenital ocular motor apraxia. ( 20139297 )
2010
12
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia 1. ( 20687492 )
2010
13
Purkinje cell loss in the cerebellar flocculus in patients with ataxia with ocular motor apraxia type 1/early-onset ataxia with ocular motor apraxia and hypoalbuminemia. ( 17917453 )
2008
14
Congenital ocular motor apraxia. ( 18320523 )
2008
15
Congenital ocular motor apraxia. ( 28221635 )
2008
16
Congenital ocular motor apraxia: clinical and neuroradiological findings, and long-term intellectual prognosis. ( 17336010 )
2007
17
Acquired ocular motor apraxia after aortic surgery. ( 18427605 )
2007
18
Ocular motor apraxia after sequential bilateral striatal infarctions. ( 20396497 )
2006
19
Spinocerebellar ataxia with ocular motor apraxia and DNA repair. ( 16961074 )
2006
20
Saccade initiation in ocular motor apraxia. ( 16619125 )
2006
21
Neurodevelopmental implications of ocular motor apraxia. ( 16288671 )
2005
22
Acquired ocular motor apraxia from bilateral frontoparietal infarcts associated with Takayasu arteritis. ( 15489414 )
2004
23
Congenital ocular motor apraxia associated with idiopathic generalized epilepsy in monozygotic twins. ( 15174536 )
2004
24
Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia. ( 15276230 )
2004
25
Spasmus nutans and congenital ocular motor apraxia with cerebellar vermian hypoplasia. ( 14623737 )
2003
26
Brainstem dysgenesis: report of five patients with congenital hypotonia, multiple cranial nerve involvement, and ocular motor apraxia. ( 12828404 )
2003
27
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations. ( 12196655 )
2002
28
Familial congenital ocular motor apraxia. ( 12173672 )
2002
29
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. ( 11586299 )
2001
30
Ocular motor apraxia and ataxia-telangiectasia. ( 11493182 )
2001
31
Recessive ataxia with ocular motor apraxia. ( 11176953 )
2001
32
Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. ( 10839884 )
2000
33
Ataxia-ocular motor apraxia syndrome: an investigation of cellular radiosensitivity of patients and their families. ( 7891378 )
1994
34
Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia. ( 3239952 )
1988

Variations for Ocular Motor Apraxia

Copy number variations for Ocular Motor Apraxia from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 134868 2 108600000 113800000 Copy number Ocular motor apraxia

Expression for Ocular Motor Apraxia

Search GEO for disease gene expression data for Ocular Motor Apraxia.

Pathways for Ocular Motor Apraxia

GO Terms for Ocular Motor Apraxia

Sources for Ocular Motor Apraxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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