ICAS
MCID: ASP026
MIFTS: 43

Asplenia, Isolated Congenital (ICAS)

Categories: Blood diseases, Fetal diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Asplenia, Isolated Congenital

MalaCards integrated aliases for Asplenia, Isolated Congenital:

Name: Asplenia, Isolated Congenital 57 43 72 29 13 6 39
Splenic Hypoplasia 57 72 70
Icas 57 43 72
Hyposplenia, Isolated Congenital 57 43
Asplenia, Familial 57 43
Familial Isolated Congenital Asplenia 58
Congenital Hypoplasia of Spleen 43
Congenital Isolated Hyposplenia 72
Isolated Congenital Asplenia 43
Hypoplasia of Spleen 43
Spenlic Hypoplasia 43
Familial Asplenia 72

Characteristics:

Orphanet epidemiological data:

58
familial isolated congenital asplenia
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
life-threatening in infancy due to sepsis
most patients have severe streptococcus pneumoniae infections
incidence of 0.51 per million in france


HPO:

31
asplenia, isolated congenital:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis
Rare immunological diseases


External Ids:

OMIM® 57 271400
MeSH 44 D007153
ICD10 32 Q89.0
ICD10 via Orphanet 33 Q89.0
Orphanet 58 ORPHA101351
UMLS 70 C0685889

Summaries for Asplenia, Isolated Congenital

MedlinePlus Genetics : 43 Isolated congenital asplenia is a condition in which affected individuals are missing their spleen (asplenia) but have no other developmental abnormalities. While most individuals with this condition have no spleen at all, some people have a very small, nonfunctional spleen (hyposplenism).The spleen plays an important role in the immune system. This organ is part of the lymphatic system, which produces and transports fluids and immune cells throughout the body. The spleen produces certain immune system cells called phagocytes that help remove bacteria from the blood in order to prevent infections. The spleen also stores particular blood cells that fight foreign invaders until they are needed and filters old blood cells for removal. Because people with isolated congenital asplenia lack these immune functions, they are highly susceptible to bacterial infections.People with isolated congenital asplenia are prone to developing severe, recurrent infections. Infections most commonly affect the whole body (sepsis), the membrane covering the brain and spinal cord (meningitis), or the ears (otitis media). Infections are most often caused by the Streptococcus pneumoniae bacteria.Without preventative care and proper treatment, the frequent infections caused by isolated congenital asplenia can be life-threatening.

MalaCards based summary : Asplenia, Isolated Congenital, also known as splenic hypoplasia, is related to right atrial isomerism and bacterial infectious disease. An important gene associated with Asplenia, Isolated Congenital is RPSA (Ribosomal Protein SA). The drugs Aspirin and Clopidogrel have been mentioned in the context of this disorder. Affiliated tissues include spleen, spinal cord and brain, and related phenotypes are thrombocytosis and asplenia

OMIM® : 57 Isolated congenital asplenia is a rare cause of primary immunodeficiency. Most affected individuals die of severe bacterial infections in early childhood. Isolated asplenia is distinct from asplenia associated with other complex visceral defects, notably heterotaxy syndromes such as Ivemark syndrome (208530) (summary by Mahlaoui et al., 2011). (271400) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Asplenia, isolated congenital: A rare primary immunodeficiency and life-threatening condition, often presenting with pneumococcal sepsis. Most affected individuals die of severe bacterial infections in early childhood. Isolated asplenia is distinct from asplenia associated with other complex visceral defects, notably heterotaxy syndromes such as Ivemark syndrome.

Wikipedia : 73 Isolated congenital asplenia is a rare disease in humans that can cause life-threatening bacterial... more...

Related Diseases for Asplenia, Isolated Congenital

Graphical network of the top 20 diseases related to Asplenia, Isolated Congenital:



Diseases related to Asplenia, Isolated Congenital

Symptoms & Phenotypes for Asplenia, Isolated Congenital

Human phenotypes related to Asplenia, Isolated Congenital:

31
# Description HPO Frequency HPO Source Accession
1 thrombocytosis 31 occasional (7.5%) HP:0001894
2 asplenia 31 HP:0001746
3 howell-jolly bodies 31 HP:0032550

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Spleen:
asplenia
hyposplenia

Immunology:
recurrent severe and invasive bacterial infections

Laboratory Abnormalities:
thrombocytosis (in some patients)
howell-jolly bodies seen in peripheral blood smear

Clinical features from OMIM®:

271400 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Asplenia, Isolated Congenital:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.62 NKX2-5 RPSA

Drugs & Therapeutics for Asplenia, Isolated Congenital

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

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
2
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
3 Analgesics, Non-Narcotic Phase 4
4 Analgesics Phase 4
5 Cyclooxygenase Inhibitors Phase 4
6 Antirheumatic Agents Phase 4
7 Anti-Inflammatory Agents Phase 4
8 Anti-Inflammatory Agents, Non-Steroidal Phase 4
9 Platelet Aggregation Inhibitors Phase 4
10 Fibrinolytic Agents Phase 4
11 Purinergic P2Y Receptor Antagonists Phase 4
12 Neurotransmitter Agents Phase 4
13 Antipyretics Phase 4
14 Tissue Plasminogen Activator Phase 4
15
Hydroxyurea Approved Phase 3 127-07-1 3657
16
Nickel Phase 2 7440-02-0 934
17
Ibuprofen Approved Phase 1 15687-27-1 3672
18
Capsaicin Approved Phase 1 404-86-4 1548943
19 Orange Approved Phase 1
20
Ethanol Approved 64-17-5 702
21
Metoprolol Approved, Investigational 37350-58-6, 51384-51-1 4171
22
Furosemide Approved, Vet_approved 54-31-9 3440
23
Heparin Approved, Investigational 9005-49-6 772 9812414
24
Regadenoson Approved, Investigational 313348-27-5 219024
25
Adenosine Approved, Investigational 58-61-7 60961
26 Complement System Proteins
27 Adrenergic beta-Antagonists
28 Complement C3
29 Plasminogen
30 calcium heparin
31 Calcium, Dietary
32 Cola
33
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 Endovascular Stenting of Medically Refractory Intracranial Arterial Stenotic (ICAS) Disease (Clinical and Sonographic Study) Completed NCT04393025 Phase 4 Optimum medical treatment
2 The Impact of NBP on the Collateral Circulation in Acute Acute Internal Carotid Artery(ICA)/Middle Cerebral Artery(M1) Occlusion Completed NCT02594995 Phase 4 NBP
3 Angioplasty and Stenting for Patients With Symptomatic Intracranial Atherosclerosis: Study Protocol of a Randomized Controlled Trial Unknown status NCT02689037 Phase 3 Aspirin plus clopidogrel
4 Fine Needle Aspiration of Retropharyngeal Lymph Node Guided by Endoscopic Ultrasound for the Diagnosis of Patients With Suspected Recurrent Nasopharyngeal Carcinoma Unknown status NCT03006588 Phase 2, Phase 3
5 Prospective, Non-Randomized, Multi-Center, Single-Arm Trial to Assess Safety & Efficacy of the Acculink Carotid Stent System With the Accunet Embolic Protection System in High-Risk Patients With Carotid Artery Lesions. Completed NCT00180518 Phase 2, Phase 3
6 An Open-Label Extension Study Evaluating the Long-Term Safety of ICA-17043 With or Without Hydroxyurea Therapy in Subjects With Sickle Cell Disease Terminated NCT00294541 Phase 3 ICA-17043
7 A Phase III Multicenter, 52-Week, Randomized, Double-Blind, Placebo-Controlled Study of the Clinical Efficacy and Safety of ICA-17043 With or Without HU Therapy in Patients With Sickle Cell Disease Who Have Had =>2 Acute Sickle-Related Painful Crises Within the Preceding 12 Months Terminated NCT00102791 Phase 3 ICA-17043
8 ACRIN 4701 RESCUE: Randomized Evaluation of Patients With Stable Angina Comparing Utilization of Diagnostic Examinations Terminated NCT01262625 Phase 3
9 A Phase II, Multicenter, Twelve-Week, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Dose-Range-Finding Study of the Efficacy and Safety of ICA-17043 With or Without Hydroxyurea Therapy in Patients With Sickle Cell Anemia Completed NCT00040677 Phase 2 Low Dose ICA-17043;High dose ICA-17043;Placebo
10 Mechanical Retrieval and Recanalization of Stroke Clots Using Embolectomy Completed NCT00389467 Phase 2
11 A Phase 2, Multi-Center, Single-Blind, Placebo-Controlled Pharmacodynamic Evaluation of ICA-105665 in Epilepsy Patients With a Photo-Induced Paroxysmal EEG Response Terminated NCT00979004 Phase 2 ICA-105665
12 A Randomized, Placebo-Controlled, 3-way Crossover Study to Investigate the Pharmacodynamic Effects of ICA-105665 Using the Intradermal Capsaicin and UV-B Models in Healthy Male Subjects Completed NCT00962663 Phase 1 ICA-105665;Ibuprofen;Placebo
13 ICA-CHAMP: Indo-Central Asian Cardiovascular Health Assessment and Management Program Unknown status NCT00627159
14 The Clinical Study of Radiation-associated Carotid Artery Disease in Patients With Nasopharyngeal Carcinoma Treated by IMRT Unknown status NCT03568032
15 PET/CT for the Quantification of Atherosclerotic Plaque Inflammation in Patients With Coronary Heart Disease: The QAEK Trial Unknown status NCT01553513
16 coRonary assEssment of Preoperative vaLvulopathy pAtients Using ComputEd Tomographic Angiography (REPLACE) Unknown status NCT02632617
17 Modified Method of Eversion Carotid Endarterectomy in Patients With Extensive Atherosclerotic Disease of Carotid Bifurcation Completed NCT04255316
18 Carotid Body Removal for the Treatment of Chronic Diseases Characterized by Excessive Central Sympathetic Activity Including Resistant Hypertension: a Pilot Study. Completed NCT01745172
19 Carotid Body Removal for the Treatment of Resistant Hypertension: a Pilot Study Completed NCT01729988
20 Combined Use of Contact Aspiration and the Stent Retriever Technique Versus Stent Retriever Alone for Recanalisation in Acute Cerebral Infarction: the Randomized ASTER2 Study Completed NCT03290885
21 Danish Study of Non-Invasive Diagnostic Testing in Coronary Artery Disease 2 Completed NCT03481712
22 Comparison the Effects of Manual and Instrumental Chiropractic Spinal Manipulation on Vertebrobasilar and Internal Carotis Arteries in Healthy Population Completed NCT03435159
23 Neurophysiological Marker of Attention Deficit Hyperactivity Disorder in Children Recruiting NCT04467658
24 A Multi-centre, Prospective, Randomized, Open-label, Blinded Endpoint (PROBE) Controlled Trial Comparing Cervical Internal Carotid Artery Stenting to no Stenting During Thrombectomy for Tandem Occlusion Stroke Recruiting NCT04261478 Antiplatelet Agents
25 EVALUER L'IMPACT PREDICTIF DU SCORE MEESSI POUR LA STRATIFICATION DU RISQUE DES PATIENTS ADMIS POUR INSUFFISANCE CARDIAQUE AIGUE DANS LES STRUCTURES D'URGENCES (ICA-MEESSI) Recruiting NCT04417881
26 Assessment of Cognitive Function in Patients Undergoing Elective Carotid Endarterectomy Recruiting NCT03907943
27 A Randomised Controlled Trial Assessing the Value of Computed Tomography Cardiac Angiography in Improving Patient Satisfaction and Reducing Contrast Load, Procedural Duration and Complications in Patients Who Had Previous Bypass Operation Undergoing Invasive Coronary Angiography Recruiting NCT03736018
28 Diagnostic Imaging Strategies for Patients With Stable Chest Pain and Intermediate Risk of Coronary Artery Disease: Comparative Effectiveness Research of Existing Technologies) - A Pragmatic Randomised Controlled Trial of CT Versus ICA Active, not recruiting NCT02400229
29 An Open, Single-arm, Single Center, Clinical Trial to Investigate the Feasibility and Safety of Laparoscopic Ileocecus-sparing Right Hemicolectomy for Hepatic Flexure and Proximal Transverse Colon Cancers Not yet recruiting NCT04479111
30 Impact of Stress Cardiac Computed Tomography Myocardial Perfusion on Downstream Resources and PROgnosis in Patients With Suspected or Known Coronary Artery Disease: a Multicenter International Study Not yet recruiting NCT03976921
31 Validation of the CAD-det System, a Novel Non-Invasive Acoustic Diagnostic for the Diagnosis of Coronary Artery Disease (The CAD-det Validation Study) Not yet recruiting NCT04562142
32 The Evaluation of Tomographic 3D Ultrasound for the Assessment of Vascular Pathology Not yet recruiting NCT04318171

Search NIH Clinical Center for Asplenia, Isolated Congenital

Genetic Tests for Asplenia, Isolated Congenital

Genetic tests related to Asplenia, Isolated Congenital:

# Genetic test Affiliating Genes
1 Asplenia, Isolated Congenital 29 RPSA

Anatomical Context for Asplenia, Isolated Congenital

MalaCards organs/tissues related to Asplenia, Isolated Congenital:

40
Spleen, Spinal Cord, Brain, Kidney, Breast, Pituitary, Thyroid

Publications for Asplenia, Isolated Congenital

Articles related to Asplenia, Isolated Congenital:

(show top 50) (show all 1172)
# Title Authors PMID Year
1
Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. 57 6
23579497 2013
2
Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module. 6 57
22560297 2012
3
Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases. 6 57
20846672 2011
4
[Congenital asplenia. A childhood immune deficit often detected too late]. 6 57
9162158 1997
5
Familial isolated congenital asplenia: a rare, frequently hereditary dominant condition, often detected too late as a cause of overwhelming pneumococcal sepsis. Report of a new case and review of 31 others. 57
12111187 2002
6
Asplenia in two father-son pairs. 57
7747770 1995
7
Hox11 controls the genesis of the spleen. 57
7908720 1994
8
Familial asplenia. 57
1599322 1992
9
Septicaemia and adrenal haemorrhage in congenital asplenia. 57
1755662 1991
10
Septicaemia and adrenal haemorrhage in congenital asplenia. 57
2039257 1991
11
Syndromes of asplenia and polysplenia. A review of cardiac and non-cardiac malformations in 60 cases withspecial reference to diagnosis and prognosis. 57
1191445 1975
12
Hereditary splenic hypoplasia. 57
5685358 1968
13
Efficacy and safety of rescue angioplasty and/or stenting for acute large artery occlusion with underlying intracranial atherosclerosis: A systematic review and meta-analysis. 61
33607582 2021
14
Association of genetic variants of RNF213 with ischemic stroke risk in Koreans. 61
33609224 2021
15
Evaluation of the interrater and intermethod agreement of the German multiparametric ultrasound criteria for the grading of internal carotid artery stenosis. 61
32945912 2021
16
Analysis of Treatment Outcome After Endovascular Treatment in Different Pathological Subtypes of Basilar Artery Occlusion: a Single Center Experience. 61
32638233 2021
17
Morphologic variants of the Cerebral Arterial Circle on computed tomographic angiography (CTA): a large retrospective study. 61
33483832 2021
18
Magnetic Resonance Imaging Abnormalities of the Optic Nerve Sheath and Intracranial Internal Carotid Artery in Giant Cell Arteritis. 61
31609845 2021
19
Preliminary Experience of Neuroform Atlas Stenting as a Rescue Treatment after Failure of Mechanical Thrombectomy Caused by Residual Intracranial Atherosclerotic Stenosis. 61
33715323 2021
20
Factors Contributing to an Efficacious Endovascular Treatment for Acute Ischemic Stroke in Asian Population. 61
33765729 2021
21
Intracranial arterial stenosis in Caucasian versus Chinese patients with TIA and minor stroke: two contemporaneous cohorts and a systematic review. 61
33785575 2021
22
Concurrent intracranial and extracranial artery stenosis and the prognosis of transient ischaemic symptoms or imaging-negative ischaemic stroke. 61
32792459 2021
23
Correlation of orthostatic hypotension with extracranial carotid and intracranial cerebral arteries atherosclerosis in patients with acute ischemic stroke under cerebral angiography. 61
33741772 2021
24
Predictors of favorable outcomes for vertebrobasilar artery occlusion after endovascular therapy within 24 hours of symptom onset. 61
33340841 2021
25
Carotid artery mobilization prior to pharyngeal flap inset for patients with 22q11.2 deletion syndrome. 61
33359933 2021
26
Association between fasting blood glucose and intracranial cerebral artery stenosis: a secondary analysis based on a retrospective cross-sectional study in Korean adults. 61
33555394 2021
27
Retinal vessel oxygen saturation in patients with unilateral internal carotid artery stenosis: a pilot study. 61
32519804 2021
28
Pre-Admission CHADS2 and CHA2DS2-VASc Scores on Early Neurological Worsening. 61
33588410 2021
29
Hemodynamic impairments within individual watershed areas in asymptomatic carotid artery stenosis by multimodal MRI. 61
32237952 2021
30
Associations of the neutrophil to lymphocyte ratio with intracranial artery stenosis and ischemic stroke. 61
33546646 2021
31
Development of immunochromatographic strips for the detection of dicofol. 61
33596275 2021
32
A pilot study on biaxial mechanical, collagen microstructural, and morphological characterizations of a resected human intracranial aneurysm tissue. 61
33568740 2021
33
Measurement of the Internal Carotid Artery Cross-Sectional Area: Systematic Differences Depending on Grayscale, Power Doppler, and Color Doppler Techniques. 61
32706144 2021
34
Hydrazide mediated oriented coupling of antibodies on quantum dot beads for enhancing detection performance of immunochromatographic assay. 61
33303169 2021
35
Anterior cervical discectomy and fusion in the setting of kissing carotids: A technical report and literature review. 61
33276217 2021
36
The internal carotid artery and the atlas: anatomical relationship and implications for C1 lateral mass fixation. 61
32734343 2021
37
Competitive immunochromatographic test strips for the rapid semi-quantitative analysis of the biologically active bitter glycoside, amarogentin. 61
32896225 2021
38
Quantitative CT angiography predicts large artery occlusion types and successful thrombectomy in acute ischemic stroke. 61
32956106 2021
39
Intercarotid artery distance in the pediatric population: Implications for endoscopic transsphenoidal approaches to the skull base. 61
33261860 2021
40
Homocysteine Associated With Low Cognitive Function Independent of Asymptomatic Intracranial and Carotid Arteries Stenoses in Chinese Elderly Patients: An Outpatient-Based Cross-Sectional Study. 61
33504251 2021
41
Relationship of Four Blood Pressure Indexes to Subclinical Cerebrovascular Diseases Assessed by Brain MRI in General Japanese Men. 61
33487617 2021
42
Endovascular revascularization of symptomatic chronic total occlusions of the internal carotid artery using a proximal balloon protection device. 61
33715535 2021
43
Precision Medicine for Intracranial Atherosclerotic Disease. 61
33679595 2021
44
Cerebral autoregulation is heterogeneous in different stroke mechanism of ischemic stroke caused by intracranial atherosclerotic stenosis. 61
33095506 2021
45
Timing and Outcomes of Intracranial Stenting in the Post-SAMMPRIS Era: A Systematic Review. 61
33613442 2021
46
Vascular Macrophages as Therapeutic Targets to Treat Intracranial Aneurysms. 61
33763073 2021
47
Synergies and trade-offs among integrated conservation approaches in Mexico. 61
33521961 2021
48
Platelet-Derived Growth Factor Is Associated with Progression of Symptomatic Intracranial Atherosclerotic Stenosis. 61
33480201 2021
49
Dose-response relationship between blood pressure and intracranial atherosclerotic stenosis. 61
33333347 2021
50
Perinatal outcomes of iatrogenic chorioamniotic separation following fetoscopic surgeries: a systematic review and meta-analysis. 61
33428299 2021

Variations for Asplenia, Isolated Congenital

ClinVar genetic disease variations for Asplenia, Isolated Congenital:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPSA NM_002295.6(RPSA):c.25C>T (p.Gln9Ter) SNV Pathogenic 64671 rs397514759 GRCh37: 3:39449169-39449169
GRCh38: 3:39407678-39407678
2 RPSA NM_002295.6(RPSA):c.590_594dup (p.Pro199fs) Duplication Pathogenic 64672 rs398122389 GRCh37: 3:39453229-39453230
GRCh38: 3:39411738-39411739
3 RPSA NM_002295.6(RPSA):c.538C>G (p.Arg180Gly) SNV Pathogenic 64673 rs397514760 GRCh37: 3:39453179-39453179
GRCh38: 3:39411688-39411688
4 RPSA NM_002295.6(RPSA):c.538C>T (p.Arg180Trp) SNV Pathogenic 64674 rs397514760 GRCh37: 3:39453179-39453179
GRCh38: 3:39411688-39411688
5 RPSA NM_002295.6(RPSA):c.556C>T (p.Arg186Cys) SNV Pathogenic 64675 rs397514761 GRCh37: 3:39453197-39453197
GRCh38: 3:39411706-39411706
6 RPSA NM_002295.6(RPSA):c.161C>A (p.Thr54Asn) SNV Pathogenic 64676 rs397514762 GRCh37: 3:39450124-39450124
GRCh38: 3:39408633-39408633
7 RPSA NM_002295.6(RPSA):c.172C>T (p.Leu58Phe) SNV Pathogenic 64677 rs397514763 GRCh37: 3:39450135-39450135
GRCh38: 3:39408644-39408644
8 RPSA NM_002295.6(RPSA):c.498+8T>A SNV Uncertain significance 626159 rs754699583 GRCh37: 3:39452498-39452498
GRCh38: 3:39411007-39411007
9 NKX2-5 NM_004387.4(NKX2-5):c.707C>A (p.Pro236His) SNV Uncertain significance 39433 rs397515399 GRCh37: 5:172659840-172659840
GRCh38: 5:173232837-173232837

UniProtKB/Swiss-Prot genetic disease variations for Asplenia, Isolated Congenital:

72
# Symbol AA change Variation ID SNP ID
1 RPSA p.Thr54Asn VAR_075092 rs397514762
2 RPSA p.Leu58Phe VAR_075093 rs397514763
3 RPSA p.Arg180Gly VAR_075094 rs397514760
4 RPSA p.Arg180Trp VAR_075095 rs397514760
5 RPSA p.Arg186Cys VAR_075097 rs397514761

Expression for Asplenia, Isolated Congenital

Search GEO for disease gene expression data for Asplenia, Isolated Congenital.

Pathways for Asplenia, Isolated Congenital

GO Terms for Asplenia, Isolated Congenital

Sources for Asplenia, Isolated Congenital

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
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19 FMA
20 GARD
28 GO
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30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
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53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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