MCID: HRN001
MIFTS: 48

Horner's Syndrome

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Horner's Syndrome

MalaCards integrated aliases for Horner's Syndrome:

Name: Horner's Syndrome 12 76 53 25 15
Horner Syndrome 12 25 44 73
Bernard-Horner Syndrome 53 25
Oculosympathetic Palsy 53 25
Cervical Sympathetic Paralysis 12
Cervical Sympathetic Dystrophy 73
Bernard Horner Syndrome 12
Von Passow Syndrome 25

Classifications:



External Ids:

Disease Ontology 12 DOID:11486
ICD10 33 G90.2
MeSH 44 D006732
NCIt 50 C28155
SNOMED-CT 68 12731000

Summaries for Horner's Syndrome

NIH Rare Diseases : 53 Horner's syndromeis a rare condition characterized by miosis (constriction of the pupil), ptosis (drooping of the upper eyelid), and anhidrosis (absence of sweating of the face). It is caused by damage to the sympathetic nerves of the face. The underlying causes of Horner's syndrome vary greatly and may include a tumor, stroke, injury, or underlying disease affecting the areas surrounding the sympathetic nerves. In rare cases, Horner's syndrome is congenital (present from birth) and may be associated with a lack of pigmentation of the iris (colored part of the eye). Treatment of Horner's syndrome depends on the underlying cause.

MalaCards based summary : Horner's Syndrome, also known as horner syndrome, is related to horner syndrome, congenital and carotid artery dissection. An important gene associated with Horner's Syndrome is MYOD1 (Myogenic Differentiation 1), and among its related pathways/superpathways is Sympathetic Nerve Pathway (Neuroeffector Junction). The drugs Ropivacaine and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and thyroid, and related phenotypes are Decreased viability in esophageal squamous lineage and Decreased HPV16-GFP infection

Genetics Home Reference : 25 Horner syndrome is a disorder that affects the eye and surrounding tissues on one side of the face and results from paralysis of certain nerves. Horner syndrome can appear at any time of life; in about 5 percent of affected individuals, the disorder is present from birth (congenital).

Wikipedia : 76 Horner''s syndrome is a combination of symptoms that arises when a group of nerves known as the... more...

Related Diseases for Horner's Syndrome

Diseases in the Horner's Syndrome family:

Horner Syndrome, Congenital

Diseases related to Horner's Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 103)
# Related Disease Score Top Affiliating Genes
1 horner syndrome, congenital 11.4
2 carotid artery dissection 10.3
3 neuroblastoma 10.3
4 malignant triton tumor 10.1 DES MYOD1
5 botryoid rhabdomyosarcoma 10.1 DES MYOD1
6 gallbladder sarcoma 10.1 DES MYOD1
7 mesenchymoma 10.1 DES MYOD1
8 spindle cell rhabdomyosarcoma 10.1 DES MYOD1
9 inflammatory leiomyosarcoma 10.1 DES MYOD1
10 malignant fibrous histiocytoma of bone 10.1 DES MYOD1
11 embryonal sarcoma 10.1 DES MYOD1
12 medullomyoblastoma 10.1 DES MYOD1
13 parachordoma 10.1 DES KRT7
14 chordoma 10.1 DES KRT7
15 malignant fibroxanthoma 10.1 DES MYOD1
16 benign metastasizing leiomyoma 10.1 DES KRT7
17 malignant mesenchymoma 10.1 DES MYOD1
18 spindle cell sarcoma 10.1 DES KRT7
19 nephrogenic adenofibroma 10.1 KRT7 MYOD1
20 rhabdoid tumor predisposition syndrome 1 10.1 DES MYOD1
21 muscle cancer 10.1 DES MYOD1
22 pleural empyema 10.1
23 embryonal rhabdomyosarcoma 10.1 DES MYOD1
24 alveolar soft part sarcoma 10.1 DES MYOD1
25 anal canal carcinoma 10.1 CD6 KRT7
26 spindle cell carcinoma 10.1 DES KRT7
27 anus cancer 10.0 CD6 KRT7
28 headache 10.0
29 oropharynx cancer 10.0 CD6 KRT7
30 rhabdomyosarcoma 2 10.0 DES MYOD1
31 carcinosarcoma 10.0 DES KRT7
32 nasopharyngeal carcinoma 10.0
33 cervical neuroblastoma 10.0
34 ptosis 10.0
35 sarcoma, synovial 10.0 DES KRT7
36 gilles de la tourette syndrome 9.9 ADRA1A ADRA2A
37 severe intellectual disability and progressive spastic paraplegia 9.9 AP4E1 AP4S1
38 anisocoria 9.9
39 hemangioma 9.9
40 neuromyelitis optica 9.9
41 thrombosis 9.9
42 anhidrosis 9.9
43 lemierre's syndrome 9.9
44 lyme disease 9.9
45 thyroid cancer 9.9
46 syringomyelia 9.9
47 herpes zoster 9.9
48 neuropathy 9.9
49 anaplastic thyroid cancer 9.9
50 eagle syndrome 9.9

Graphical network of the top 20 diseases related to Horner's Syndrome:



Diseases related to Horner's Syndrome

Symptoms & Phenotypes for Horner's Syndrome

GenomeRNAi Phenotypes related to Horner's Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.17 ADRA1A ADRA2A AP4S1 CD6 DES KRT7
2 Decreased HPV16-GFP infection GR00350-A 9.13 ADRA1A DES MYOD1

MGI Mouse Phenotypes related to Horner's Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.17 ADRA1A ADRA2A AP4E1 CD6 DES KRT7

Drugs & Therapeutics for Horner's Syndrome

Drugs for Horner's Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 99)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 175805 71273
2
Epinephrine Approved, Vet_approved Phase 4,Phase 1,Phase 2,Not Applicable 51-43-4 5816
3
Mepivacaine Approved, Vet_approved Phase 4,Not Applicable 96-88-8 4062
4
Racepinephrine Approved Phase 4,Phase 1,Phase 2,Not Applicable 329-65-7 838
5
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 2713 9552079
6
Lidocaine Approved, Vet_approved Phase 4,Phase 1,Phase 2,Not Applicable 137-58-6 3676
7
Bupivacaine Approved, Investigational Phase 4,Phase 1,Phase 2,Not Applicable 2180-92-9, 38396-39-3 2474
8
Pseudoephedrine Approved Phase 4 90-82-4 7028
9
Phenylephrine Approved Phase 4 59-42-7 6041
10
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
11
Tamsulosin Approved, Investigational Phase 4 106133-20-4 129211
12
Ephedrine Approved Phase 4 299-42-3 9294
13 Anesthetics, Local Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
14 Anesthetics Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
15 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
16 Central Nervous System Depressants Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
17 Epinephryl borate Phase 4,Phase 1,Phase 2,Not Applicable
18 Pharmaceutical Solutions Phase 4
19 Chlorhexidine gluconate Phase 4
20 Vasoconstrictor Agents Phase 4,Phase 1,Phase 2,Not Applicable
21 Mydriatics Phase 4,Phase 1,Phase 2,Not Applicable
22 Neurotransmitter Agents Phase 4,Phase 1,Phase 2,Not Applicable
23 Adrenergic Agonists Phase 4,Phase 1,Phase 2,Not Applicable
24 Adrenergic Agents Phase 4,Phase 1,Phase 2,Not Applicable
25 Autonomic Agents Phase 4,Phase 1,Phase 2,Not Applicable
26 Adrenergic alpha-Agonists Phase 4,Phase 1,Phase 2,Not Applicable
27 Sympathomimetics Phase 4,Phase 1,Phase 2,Not Applicable
28 Respiratory System Agents Phase 4,Phase 1,Phase 2,Not Applicable
29 Adrenergic alpha-Antagonists Phase 4
30 Nasal Decongestants Phase 4
31 Cardiotonic Agents Phase 4
32 Protective Agents Phase 4
33
Midazolam Approved, Illicit Phase 1, Phase 2,Not Applicable 59467-70-8 4192
34
Sevoflurane Approved, Vet_approved Phase 1, Phase 2 28523-86-6 5206
35
Propofol Approved, Investigational, Vet_approved Phase 1, Phase 2 2078-54-8 4943
36
Atracurium Approved, Experimental, Investigational Phase 1, Phase 2 64228-79-1 47319
37
Ketamine Approved, Vet_approved Phase 1, Phase 2,Not Applicable 6740-88-1 3821
38
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 1, Phase 2 437-38-7 3345
39
Enalapril Approved, Vet_approved Phase 2 75847-73-3 5362032 40466924
40
Enalaprilat Approved Phase 2 76420-72-9 6917719
41
Spironolactone Approved Phase 2 52-01-7, 1952-01-7 5833
42
Carvedilol Approved, Investigational Phase 2 72956-09-3 2585
43 Anesthetics, General Phase 1, Phase 2,Not Applicable
44 Analgesics Phase 1, Phase 2,Not Applicable
45 Anti-Anxiety Agents Phase 1, Phase 2,Not Applicable
46 Adrenergic beta-Agonists Phase 1, Phase 2,Not Applicable
47 Anti-Asthmatic Agents Phase 1, Phase 2,Not Applicable
48 Anesthetics, Dissociative Phase 1, Phase 2,Not Applicable
49 Diuretics, Potassium Sparing Phase 1, Phase 2,Not Applicable
50 Psychotropic Drugs Phase 1, Phase 2,Not Applicable

Interventional clinical trials:

(show all 35)
# Name Status NCT ID Phase Drugs
1 Determining the Minimal Effective Volume (MEAV95) for Interscalene Brachial Plexus Block for Surgical Anesthesia Unknown status NCT01703130 Phase 4
2 The Retroclavicular Approach for Regional Anesthesia of the Upper Limb in Obese Patients Completed NCT02086643 Phase 4
3 Suprascapular and Axillary Blocks Versus Interscalene Block for Shoulder Surgery Completed NCT02517437 Phase 4 Suprascapular & axillary blocks;Interscalene block
4 Exploration of Pupil Dilation in Horner's Patients Taking Flomax Recruiting NCT03615508 Phase 4 10% phenylephrine
5 Comparative Study Between Single , Intra- Cluster and Double-injection Ultrasound-guided Supraclavicular Block of Brachial Plexus Enrolling by invitation NCT03188939 Phase 4
6 Does a Low Volume Ultrasound-Guided Technique Reduce Common Complications of Interscalene Brachial Plexus Block? Completed NCT00497354 Phase 3 Variation in volume of local anesthetic
7 Three-level Injection Paravertebral Block vs General Anesthesia in Mastectomy Completed NCT02065947 Phase 1, Phase 2 fentanyl, propofol, atracurium;lidocaine , adrenaline, ketamine bolus, midazolam;sevoflurane and 50% oxygen in air
8 Left Cardiac Sympathetic Denervation for Cardiomyopathy Feasibility Pilot Study Recruiting NCT03071653 Phase 2
9 Surgical Sympathetic Blockade in Heart Failure Completed NCT01224899 Phase 1
10 Comparison of US-Guided Paravertebral and Proximal Intercostal Nerve Blocks Unknown status NCT02911168 Not Applicable
11 Horner's SD After Thoracic Epidural Block Completed NCT02130739 Ropivacaine;Propofol;Fentanyl
12 Clinical Efficacy of Supraclavicular Block for Arthroscopic Shoulder Surgery Completed NCT01958801 Not Applicable
13 Predictive Factors for Hypotensive Bradycardic Events During Arthroscopic Shoulder Surgery Completed NCT01926561
14 Posterior Parasagittal In-Plane Ultrasound-Guided Infraclavicular Brachial Plexus Block Completed NCT02312453 Not Applicable
15 Conventional Versus Posterior Approach in Ultrasound-Guided Parasagittal In-Plane Infraclavicular Brachial Plexus Block Completed NCT02462408 Not Applicable
16 Ultrasound Guided Axillary Brachial Plexus Block Versus Supraclavicular Block in Emergency Crushed Hand Patients Completed NCT03377985 Not Applicable
17 Continuous Blockade of the Brachial Plexus Completed NCT02769429
18 Anterior Ultrasound-guided Cervical Plexus Block for Carotid Endarterectomy Completed NCT01640613
19 Distance for Interscalene Block Completed NCT01568463
20 Retroclavicular Approach vs Infraclavicular Approach for Plexic Bloc Anesthesia of the Upper Limb Completed NCT02913625 Not Applicable
21 Pupillometry in Horner's Syndrome Recruiting NCT02978079 Not Applicable
22 The Effects of Horner's Syndrome Developing After Interscalene Brachial Plexus Block on Autonomic Nervous Activity Recruiting NCT03514342 0.75% ropivacaine
23 Comparison of Erector Spinae Plane Block With Serratus Anterior Plane Block for Breast Surgery Recruiting NCT03579524 Not Applicable
24 Interscalene vs Anterior and Posterior Suprascapular Nerve Block for Shoulder Arthroscopic Surgeries Recruiting NCT03277326 Not Applicable
25 Efficacy of the C8 Nerve Root Block During Interscalene Block for Anesthesia of the Posterior Aspect of the Shoulder Recruiting NCT03487874 Not Applicable 0.75% ropivacaine
26 Single Versus Double Injection Costoclavicular Block Recruiting NCT03595514 Not Applicable lidocaine, bupivacaine, epinephrine, dexamethasone
27 Interscalene Versus Combined Infraclavicular-suprascapular Nerve Blocks Recruiting NCT03628950 Not Applicable
28 Chemical Block and Electrical Stimulation of the Carotid Body to Treat Refractory Hypertension Recruiting NCT02519868 Not Applicable
29 Dexamethasone Versus Dexmedetomidine as Adjuvants for Nerve Blocks Recruiting NCT03610893 Not Applicable Dexamethasone;Dexmedetomidine
30 Dexamethasone at Lower Concentration Ropivacaine in the Supraclavicular Nerve Block Enrolling by invitation NCT03572686 Not Applicable Ropivacaine 0.5% 20mL;Ropivacaine 0.25% 20ml;Ropivacaine 0.25% 20ml + dexamethasone 8mg
31 Programmed Intermittent Bolus for Infusion of Local Anesthetic During Continuous Interscalene Nerve Blockade for Total Shoulder Arthroplasty: a Randomized Controlled Trial Not yet recruiting NCT03268837 Not Applicable
32 Comparison of Volumes of Local Anesthetics on the Efficiency and Safety of Stellate Ganglion Block for CRPS of the Arm Not yet recruiting NCT03316066 Not Applicable
33 Hemidiaphragmatic Paralysis With Diluted Continuous Interscalene Plexus Infusions Not yet recruiting NCT03592056
34 Interscalene Nerve Block vs. Sedation for Shoulder Dislocation Reduction Not yet recruiting NCT03041506 Not Applicable Lidocaine;Midazolam;Ketamine
35 Clinical Evaluation of the Ultrasound-Guided Retroclavicular Brachial Plexus Block Withdrawn NCT01605929 Not Applicable

Search NIH Clinical Center for Horner's Syndrome

Cochrane evidence based reviews: horner syndrome

Genetic Tests for Horner's Syndrome

Anatomical Context for Horner's Syndrome

MalaCards organs/tissues related to Horner's Syndrome:

41
Eye, Testes, Thyroid, Breast, Spinal Cord, Bone, Kidney

Publications for Horner's Syndrome

Articles related to Horner's Syndrome:

(show top 50) (show all 844)
# Title Authors Year
1
Horner's syndrome following obstetric neuraxial blockade - a systematic review of the literature. ( 29657082 )
2018
2
A case of Horner's syndrome after catheter-based fibrinolysis for pulmonary embolism. ( 29775165 )
2018
3
Cervical Sympathetic Chain Schwannoma Masquerading as a Vagus Nerve Schwannoma Complicated by Postoperative Horner's Syndrome and Facial Pain: A Case Report. ( 29908450 )
2018
4
Risk factors for the development of Horner's syndrome following interscalene brachial plexus block using ropivacaine for shoulder arthroscopy: a randomised trial. ( 29931665 )
2018
5
Dramatic extremity temperature increase and Horner's syndrome after stellate ganglion block. ( 29343589 )
2018
6
Unilateral Straight Hair-A Symptom of Acquired Horner's Syndrome in a Neonate. ( 29632800 )
2018
7
Horner Syndrome Due to Spontaneous Internal Carotid Artery Dissection. ( 30519521 )
2018
8
Chikungunya infection and horner syndrome. ( 30510900 )
2018
9
Primary chondroma of posterior mediastinum with Horner's syndrome: a case report. ( 30333040 )
2018
10
"Collateral Damage:" Horner's Syndrome Following Excision of a Cervical Vagal Schwannoma. ( 30123753 )
2018
11
A Unique Case of Horner's Syndrome Following Subintimal Haematoma Within an Atherosclerotic Plaque. ( 30258476 )
2018
12
Rhabdomyosarcoma of the middle ear cavity presenting with Horner's syndrome. ( 30286657 )
2018
13
Horner's Syndrome and Upper Extremity Weakness After Quadratus Lumborum Block for Postcesarean Section Analgesia: A Case Report. ( 30543537 )
2018
14
Isolated Horner syndrome as a rare initial presentation of nasopharyngeal carcinoma: a case report. ( 30425588 )
2018
15
Pigment Dispersion Syndrome Mimicking Congenital Horner Syndrome. ( 29329469 )
2018
16
Horner Syndrome as the Only Focal Neurologic Manifestation of Hypothalamic Hemorrhage. ( 29240575 )
2018
17
Horner Syndrome: A Clinical Review. ( 29260849 )
2018
18
Lymphatic malformation with acquired Horner syndrome in an infant. ( 29326377 )
2018
19
Invited Commentary: Evaluation of Horner Syndrome in the MRI Era. ( 29334520 )
2018
20
An Unusual Cause of Horner Syndrome. ( 29383548 )
2018
21
Horner Syndrome After Epidural Catheter Placement in a 4-Month-Old Child. ( 29384560 )
2018
22
High thoracic ossification of ligamentum flavum causing partial Horner syndrome. ( 29490510 )
2018
23
Dilation lag in Horner syndrome can be measured with a diagnostic imaging system. ( 29581325 )
2018
24
Changes in blood flow at the mandibular angle and Horner syndrome in a rat model of superior cervical ganglion block. ( 29744385 )
2018
25
The prognostic value of concurrent Horner syndrome in surgical decision making at 3 months in total-type neonatal brachial plexus palsy. ( 29747529 )
2018
26
A Retrospective Study of Horner Syndrome in Australian Wild Birds, 2010-2016. ( 29905096 )
2018
27
Horner syndrome in ipsilateral lenticulostriate stroke: a novel localization for a classic stroke syndrome. ( 29987669 )
2018
28
Horner Syndrome as a Rare Complication of Radiofrequency Tonsil Ablation. ( 30074605 )
2018
29
Horner syndrome as a complication after thyroid microwave ablation: Case report and brief literature review. ( 30142787 )
2018
30
Trichoteiromania: An Atypical Case Associated with the Claude Bernard Horner Syndrome. ( 30410912 )
2018
31
Horner Syndrome After Anterior Revision Surgery for Cervical Spondylotic Myelopathy: A Very Rare Complication: A Case Report. ( 30489378 )
2018
32
Cervical Arteriovenous Malformation Causing Horner's Syndrome. ( 28219497 )
2017
33
Horner's syndrome in cervico-dorsal tuberculosis: A rare case report. ( 28720996 )
2017
34
Unusual Horner's Syndrome in Recurrent Breast Cancer: Evaluation Using (18)F-FDG PET/CT. ( 28250864 )
2017
35
Rare Complications of Cervical Spine Surgery: Horner's Syndrome. ( 28451480 )
2017
36
Left parapharyngeal ectopic goitre associated with eutopic thyroid and postoperative Horner's syndrome. ( 28215490 )
2017
37
Metastatic testicular cancer, a Horner's syndrome and brachial plexopathy. ( 28472531 )
2017
38
Backpack palsy with Horner's syndrome. ( 28536218 )
2017
39
[Horner's Syndrome: an unusual ophthalmological presentation of Hodgkin lymphoma]. ( 29215661 )
2017
40
Rhabdomyolysis resulting in concurrent Horner's syndrome and brachial plexopathy: a case report. ( 28321484 )
2017
41
A Ruptured Extra-dural Spinal Arterio-venous Malformation Presenting as Horner's Syndrome: The First Case Report. ( 29142793 )
2017
42
Spontaneous cervical intradural disc herniation presenting with Brown-SAcquard and Horner's syndrome: lesson learned from a very unique case. ( 28343313 )
2017
43
Iatrogenic Horner's syndrome: A cause for diagnostic confusion in the emergency department. ( 28680524 )
2017
44
Hemodynamic instability and Horner's syndrome following a labour lumbar neuraxial block: A warning sign of a potentially lethal event? ( 28116954 )
2017
45
Alternating Horner Syndrome With Vegetative Alterna and Spastic Quadraparesis After Bacterial Meningitis. ( 29052695 )
2017
46
Horner's Syndrome in a Case of Granulocytic Sarcoma. ( 28596669 )
2017
47
Horner's syndrome in traumatic first rib fracture without carotid injury; review of anatomy and pathophysiology. ( 29644305 )
2017
48
Horner's syndrome and epidural anesthesia in labor and cesarean section. ( 29949268 )
2017
49
Neuromyelitis optica presenting with horner syndrome: A case report and review of literature. ( 28619428 )
2017
50
Bronchial artery aneurysm: a rare, undescribed cause of Horner syndrome. ( 27683093 )
2017

Variations for Horner's Syndrome

Expression for Horner's Syndrome

Search GEO for disease gene expression data for Horner's Syndrome.

Pathways for Horner's Syndrome

Pathways related to Horner's Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.98 ADRA1A ADRA2A

GO Terms for Horner's Syndrome

Cellular components related to Horner's Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome lumen GO:0031904 8.96 AP4E1 AP4S1
2 AP-4 adaptor complex GO:0030124 8.62 AP4E1 AP4S1

Biological processes related to Horner's Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein localization GO:0008104 9.37 AP4E1 AP4S1
2 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.32 ADRA1A ADRA2A
3 protein targeting GO:0006605 9.26 AP4E1 AP4S1
4 regulation of vasoconstriction GO:0019229 9.16 ADRA1A ADRA2A
5 adenylate cyclase-activating adrenergic receptor signaling pathway GO:0071880 8.96 ADRA1A ADRA2A
6 adrenergic receptor signaling pathway GO:0071875 8.62 ADRA1A ADRA2A

Molecular functions related to Horner's Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 adrenergic receptor activity GO:0004935 8.62 ADRA1A ADRA2A

Sources for Horner's Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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