FMDA
MCID: FBR032
MIFTS: 48

Fibromuscular Dysplasia (FMDA)

Categories: Rare diseases

Aliases & Classifications for Fibromuscular Dysplasia

MalaCards integrated aliases for Fibromuscular Dysplasia:

Name: Fibromuscular Dysplasia 56 74 52 53 54 17 71
Fibromuscular Dysplasia of Arteries 56 74 52
Fmd 56 52
Fmda 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
fibromuscular dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 135580
MedGen 41 C0016052
UMLS 71 C0016052

Summaries for Fibromuscular Dysplasia

NINDS : 53 Fibromuscular dysplasia (FMD) is the abnormal development or growth of cells in the walls of arteries that can cause the vessels to narrow or bulge. The carotid arteries, which pass through the neck and supply blood to the brain, are commonly affected. Arteries within the brain and kidneys can also be affected. A characteristic “string of beads” pattern caused by the alternating narrowing and enlarging of the artery can block or reduce blood flow to the brain, causing a stroke or mini-stroke. Some patients experience no symptoms of the disease while others may have high blood pressure, dizziness or vertigo, chronic headache, intracranial aneurysm, ringing in the ears, weakness or numbness in the face, neck pain, or changes in vision. FMD is most often seen in persons age 25 to 50 years and affects women more often than men. More than one family member may be affected by the disease. The cause of FMD is unknown. An angiogram can detect the degree of narrowing or obstruction of the artery and identify changes such as a tear (dissection) or weak area (aneurysm) in the vessel wall. FMD can also be diagnosed using computed tomography, magnetic resonance imaging, or ultrasound.

MalaCards based summary : Fibromuscular Dysplasia, also known as fibromuscular dysplasia of arteries, is related to carotid artery dissection and renovascular hypertension. An important gene associated with Fibromuscular Dysplasia is REN (Renin), and among its related pathways/superpathways are p70S6K Signaling and AGE-RAGE signaling pathway in diabetic complications. The drugs Artemether and Lumefantrine have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and heart, and related phenotypes are myocardial infarction and aortic dissection

NIH Rare Diseases : 52 Fibromuscular dysplasia (FMD) is a condition characterized by abnormal development or growth of cells in the walls of blood vessels (arteries) that can cause the vessels to narrow. The carotid arteries , which pass through the neck and supply blood to the brain, are commonly affected. Arteries within the brain and kidneys can also be affected. Some people with FMD experience no symptoms of the disease while others may experience high blood pressure , dizziness or vertigo , chronic headache , ringing in the ears , weakness or numbness in the face, neck pain, or changes in vision. Potential severe complications include arterial aneurysms and dissections , stroke , subarachnoid hemorrhage (when a brain aneurysm ruptures), and mesenteric ischemia . FMD is most often seen in people age 25 to 50 years and affects women more often than men. The cause of FMD is unknown, however, genetic and hormonal factors may be involved. Familial cases of FMD are rare. Treatment is based on the arteries affected and the progression and severity of the disease.

OMIM : 56 Fibromuscular dysplasia (FMDA) is a nonatherosclerotic, noninflammatory arterial disease that most commonly involves the renal and carotid arteries. The prevalence of symptomatic renal artery FMDA is about 4 in 1,000 and the prevalence of cervicocranial FMDA is about half of that. Histologic classification includes 3 main subtypes, intimal, medial, and perimedial, which may be associated in a single patient. Angiographic classification includes the multifocal type, with multiple stenoses and the 'string of beads' appearance that is related to medial FMDA, and tubular and focal types, which are not clearly related to specific histologic lesions (summary by Plouin et al., 2007) (135580)

Wikipedia : 74 Fibromuscular dysplasia (FMD) is a non-atherosclerotic, non-inflammatory disease of the blood vessels... more...

Related Diseases for Fibromuscular Dysplasia

Diseases related to Fibromuscular Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 328)
# Related Disease Score Top Affiliating Genes
1 carotid artery dissection 31.0 PHACTR1 MYLK
2 renovascular hypertension 30.6 YY1AP1 REN AGTR1 ACE
3 renal hypertension 30.5 REN AGTR1 AGT ACE
4 stroke, ischemic 30.5 REN AGTR1 AGT ACE
5 vascular disease 30.5 TGFB1 REN AGTR1 AGT ACE
6 renal artery obstruction 30.2 REN ACE
7 hypertension, diastolic 30.2 REN ACE
8 hypertensive retinopathy 30.2 REN AGTR1 ACE
9 renal artery disease 30.2 REN AGTR1 AGT ACE
10 cerebrovascular disease 30.2 REN AGTR1 AGT ACE
11 orthostatic intolerance 30.1 REN AGTR1 ACE
12 malignant hypertension 30.1 REN AGTR1 AGT ACE
13 hypertensive encephalopathy 30.0 REN AGTR1 ACE
14 familial hypertension 30.0 REN AGTR1 AGT
15 end stage renal disease 30.0 REN AGTR1 AGT ACE
16 portal hypertension 30.0 TGFB1 AGTR1 ACE
17 congestive heart failure 30.0 REN AGTR1 AGT ACE
18 aortic disease 29.8 REN MYLK ACE
19 pre-eclampsia 29.8 REN AGTR1 AGT ACE
20 marfan syndrome 29.8 TGFB1 MYLK AGTR1
21 pulmonary edema 29.7 REN AGTR1 AGT ACE
22 moyamoya disease 1 29.7 TGFB1 RNF213 PHACTR1 OBSCN MYLK
23 heart valve disease 29.6 TGFB1 REN ACE
24 kidney disease 29.5 TGFB1 REN AGTR1 AGT ACE
25 grange syndrome 29.4 YY1AP1 YY1 INO80
26 hypertension, essential 29.2 TGFB1 REN MYLK AGTR1 AGT ACE
27 myocardial infarction 29.1 TGFB1 REN PHACTR1 AGTR1 AGT ACE
28 chronic kidney disease 29.1 TGFB1 REN AGTR1 AGT ACE
29 hypertrophic cardiomyopathy 29.0 TGFB1 REN OBSCN AGTR1 AGT ACE
30 dilated cardiomyopathy 28.7 TGFB1 REN OBSCN AGTR1 AGT ACE
31 frontometaphyseal dysplasia 12.1
32 coronary artery dissection, spontaneous 11.7
33 otopalatodigital syndrome, type i 11.4
34 facioscapulohumeral muscular dystrophy 1 11.4
35 frontometaphyseal dysplasia 1 11.4
36 otopalatodigital syndrome, type ii 11.3
37 melnick-needles syndrome 11.3
38 frontometaphyseal dysplasia 2 11.2
39 mouth disease 11.1
40 aneurysm 10.8
41 transient cerebral ischemia 10.6
42 intracranial aneurysm 10.5
43 ischemia 10.5
44 vasculitis 10.5
45 cerebral aneurysms 10.5
46 meningococcal infection 10.4 AGTR1 AGT
47 iga nephropathy 1 10.4 AGTR1 ACE
48 hemiplegia 10.4
49 microcolon 10.4 MYLK ACE
50 carotid stenosis 10.4

Graphical network of the top 20 diseases related to Fibromuscular Dysplasia:



Diseases related to Fibromuscular Dysplasia

Symptoms & Phenotypes for Fibromuscular Dysplasia

Human phenotypes related to Fibromuscular Dysplasia:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 myocardial infarction 31 HP:0001658
2 aortic dissection 31 HP:0002647
3 stroke 31 HP:0001297
4 renovascular hypertension 31 HP:0100817
5 intermittent claudication 31 HP:0004417
6 arterial fibromuscular dysplasia 31 HP:0005313

Symptoms via clinical synopsis from OMIM:

56
Cardiac:
myocardial infarction

Neuro:
stroke

G U:
hypertension due to renal artery hyperplasia

Vascular:
aortic dissection
arterial fibromuscular dysplasia

Limbs:
claudication

Clinical features from OMIM:

135580

MGI Mouse Phenotypes related to Fibromuscular Dysplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 ACE AGT AGTR1 CDIPT DYNC2H1 INO80
2 growth/size/body region MP:0005378 10 ACE AGT AGTR1 CDIPT DYNC2H1 INO80
3 homeostasis/metabolism MP:0005376 9.93 ACE AGT AGTR1 CDIPT INO80 MYLK
4 mortality/aging MP:0010768 9.73 ACE AGT AGTR1 CDIPT DYNC2H1 INO80
5 renal/urinary system MP:0005367 9.17 ACE AGT AGTR1 DYNC2H1 MYLK REN

Drugs & Therapeutics for Fibromuscular Dysplasia

Drugs for Fibromuscular Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Artemether Approved Phase 3 71963-77-4 68911 9796294 119380
2
Lumefantrine Approved Phase 3 82186-77-4 6437380
3
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
4 Antiparasitic Agents Phase 3
5 Antiprotozoal Agents Phase 3
6 Anti-Infective Agents Phase 3
7 Artemether, Lumefantrine Drug Combination Phase 3
8 Albumin-Bound Paclitaxel Phase 3
9 Tubulin Modulators Phase 3
10 Antimitotic Agents Phase 3
11
Sodium citrate Approved, Investigational Phase 2 68-04-2
12
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
13 Phosphodiesterase 5 Inhibitors Phase 2
14 Phosphodiesterase Inhibitors Phase 2
15 Vasodilator Agents Phase 2
16 Citrate Phase 2
17 Sildenafil Citrate Phase 2 171599-83-0
18
Piperaquine Experimental, Investigational 4085-31-8 5079497
19
Dihydroartemisinin Experimental, Investigational 71939-50-9 6918483
20 Angiotensin Receptor Antagonists
21 Angiotensin-Converting Enzyme Inhibitors
22 Antihypertensive Agents
23 Anticholesteremic Agents
24 Antimalarials

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 Evaluating the Effectiveness and Feasibility of Reactive Focal Mass Drug Administration vs. Reactive Case Detection as a Community Level Intervention in Response to a Passively Identified Index Malaria Case in Swaziland Completed NCT02315690 Phase 3 dihydroartemisinin-piperaquine (DHAp)
2 Comparison of Drug-eluting Balloon and Plain Balloon for Treatment of Non-atherosclerotic Renal Artery Stenosis: a Randomized Controlled Study Recruiting NCT04366596 Phase 3
3 Effect of Sildenafil on Digital Ulcers in Systemic Sclerosis Completed NCT00624273 Phase 2 Sildenafil therapy
4 Assessment of Contrast-enhanced Ultrasonography, Shear Wave Elastography, Strain Imaging, and 3-D Volume Ultrasonography on Arterial Wall Visualization and Stiffness in Patients With Fibromuscular Dysplasia... Withdrawn NCT03335020 Phase 1 Contrast-Enhanced Ultrasound
5 Assessment of Renal Artery Fibromuscular Dysplasia: From Diagnosis to Treatment Unknown status NCT02586870
6 PREVALENCE STUDY OF FIBROMUSCULAR DYSPLASIA IN PATIENTS WITH HAEMATOMA OR SPONTANEOUS CORONARY ARTERY DISSECTION Unknown status NCT02799186
7 A Prospective Study of Using Parenchymal Blood Volume(PBV) for Endovascular Treatment of Renal Arterial Stenosis Unknown status NCT03252639
8 Pathophysiological Mechanisms of Fibromuscular Dysplasia Completed NCT01935752
9 Renal Arteries Dysplastic Aneurysms: Anatomopathological and Genetic Study Completed NCT02528149
10 PROgression of FIbromuscular LEsions Completed NCT02961868
11 The CAUSE Trial: Genomics of Extreme Trait-Coronary Artery Disease Cells and Fibromuscular Dysplasia Using Induced Pluripotent Stem Cell-Derived Endothelial Cells Completed NCT01808729
12 Assessment of Renal and Cervical Artery DysplasIA Completed NCT02884141
13 Prairie Renal Denervation Study Completed NCT01832233
14 Defining the Basis of Fibromuscular Dysplasia: The Define-FMD Study Recruiting NCT01967511
15 A Prospective Danish National Registry of Percutaneous Transluminal Renal Angioplasty in Patients With Renovascular Hypertension Recruiting NCT02770066
16 Study of Arterial Properties by Ultra-high Frequency Ultrasound in Fibromuscular Dysplasia and Vascular Ehlers-Danlos Syndrome Recruiting NCT03596437
17 Prospective Registry of Young Women With MI: Evaluating the Prevalence and Long-term Impact of Non-atherosclerotic CAD (PRYME) Recruiting NCT01479140
18 Assessing the Effectiveness of Mass Drug Administration (MDA) With Dihydroartemisinin + Piperaquine for Reducing Malaria Parasite Infection Prevalence and Incidence in Southern Province Zambia Active, not recruiting NCT02329301 MDA with DHAp (Eurartesim);Focal MDA with DHAp (Eurartesim)
19 Canadian Spontaneous Coronary Artery Dissection (SCAD) Cohort Study Active, not recruiting NCT02188069
20 Genetic Investigations in Spontaneous Coronary Artery Dissection (SCAD) Enrolling by invitation NCT01427179
21 The Endovascular Management of Visceral Artery Aneurysms Not yet recruiting NCT03613883

Search NIH Clinical Center for Fibromuscular Dysplasia

Genetic Tests for Fibromuscular Dysplasia

Anatomical Context for Fibromuscular Dysplasia

MalaCards organs/tissues related to Fibromuscular Dysplasia:

40
Kidney, Brain, Heart, Testes, Endothelial, Skin, Bone

Publications for Fibromuscular Dysplasia

Articles related to Fibromuscular Dysplasia:

(show top 50) (show all 1946)
# Title Authors PMID Year
1
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. 56 61
27939641 2017
2
Fibromuscular dysplasia. 61 56
17555581 2007
3
Coexistence of hypertrophic cardiomyopathy and fibromuscular dysplasia of the superior mesenteric artery. 56 61
11336027 2001
4
Dissecting aortic aneurysm as a complication of generalized fibromuscular dysplasia. 61 56
1568754 1992
5
"Vascular neurofibromatosis" and infantile gangrene. 61 56
2510517 1989
6
Familial form of fibromuscular dysplasia of the internal carotid artery. 56 61
6864261 1983
7
Fibromuscular dysplasia and the brain. I. Observations on angiographic, clinical and genetic characteristics. 61 56
7064180 1982
8
Penetrance estimates and recurrence risks for fibromuscular dysplasia. 56 61
7363496 1980
9
The genetics of fibromuscular dysplasia. 56 61
7352819 1980
10
Hereditary fibromuscular dysplasia with renovascular hypertension. 61 56
851308 1977
11
Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms. 56
8514866 1993
12
Occurrence of renovascular hypertension in two sisters. 56
951017 1976
13
Fibromuscular hyperplasia of the external iliac arteries. An unusual cause of intermittent claudication. 56
5906834 1966
14
Renal-artery abnormalities in three hypertensive sisters. Probable familial fibromuscular hyperplasia. 56
5897359 1965
15
Hypertension in two sisters caused by so-called fibromuscular hyperplasia of the renal arteries. 56
5839403 1965
16
Perimuscular fibrosis of renal arteries with hypertension. 56
14001730 1963
17
Percutaneous transluminal renal angioplasty (PTRA) as a method of therapy for renovascular hypertension in children. 54 61
2140097 1990
18
Clinical features and prognosis of patients with spontaneous coronary artery dissection. 61
32245641 2020
19
Genetic Study of PHACTR1 and Fibromuscular Dysplasia, Meta-Analysis and Effects on Clinical Features of Patients: The ARCADIA-POL Study. 61
32475314 2020
20
Clinical Characteristics and Long-Term Outcomes of Midaortic Syndrome. 61
31923594 2020
21
Psychological and clinical characteristics of female patients with spontaneous coronary artery dissection. 61
32500434 2020
22
Rare Loss-of-function Mutations of PTGIR are enriched in Fibromuscular Dysplasia. 61
32531060 2020
23
Clinical associations of headaches among patients with fibromuscular dysplasia: A Report from the US Registry for Fibromuscular Dysplasia. 61
32490735 2020
24
How should we define appropriate patients for percutaneous transluminal renal angioplasty treatment? 61
32572170 2020
25
Direct Distal Renal Artery Aneurysm Repair. 61
32402807 2020
26
Endovascular treatment for spontaneous carotid cavernous sinus fistula caused by fibromuscular dysplasia: A rare case report and literature review. 61
32416327 2020
27
Characterization of adenosine A2 receptors in peripheral blood mononuclear cells of patients with fibromuscular dysplasia. 61
31853038 2020
28
Impact of Percutaneous Revascularization on Left Ventricular Mass and Its Relationship to Outcome in Hypertensive Patients With Renal Artery Stenosis. 61
32161950 2020
29
Intravascular Ultrasound in Carotid Web. 61
31801849 2020
30
Kidney enlargement effect of angioplasty for nonatherosclerotic renovascular disease: reversibility of ischemic kidney. 61
32444857 2020
31
Visceral artery fibromuscular dysplasia: another step in unravelling a mysterious vascular syndrome. 61
32132432 2020
32
Brain-to-Pelvis Imaging Substantially Impacts Management of Patients With Fibromuscular Dysplasia. 61
32148124 2020
33
Intractable coronary fibromuscular dysplasia leading to end-stage heart failure and fatal heart transplantation. 61
31994838 2020
34
Dissecting visceral fibromuscular dysplasia reveals a new vascular phenotype of the disease: a report from the ARCADIA-POL study. 61
31913220 2020
35
Screening CT angiography in patients with suspected fibromuscular dysplasia: improved patient care with single-session skull vertex to pelvis coverage. 61
32420100 2020
36
Coronary artery disease and acute coronary syndrome in women. 61
31932287 2020
37
Systematic and Multidisciplinary Evaluation of Fibromuscular Dysplasia Patients Reveals High Prevalence of Previously Undetected Fibromuscular Dysplasia Lesions and Affects Clinical Decisions: The ARCADIA-POL Study. 61
32148126 2020
38
[Bilateral renal infarction: A rare complication of fibromuscular dysplasia]. 61
32081546 2020
39
Renal Artery Stenosis As Etiology of Recurrent Flash Pulmonary Edema and Role of Imaging in Timely Diagnosis and Management. 61
32399343 2020
40
Carotid Web Misdiagnosis. 61
32335292 2020
41
THE EUROPEAN/INTERNATIONAL FIBROMUSCULAR DYSPLASIA REGISTRY AND INITIATIVE (FEIRI)- CLINICAL PHENOTYPES AND THEIR PREDICTORS BASED ON A COHORT OF ONE THOUSAND PATIENTS. 61
32282921 2020
42
Fibromuscular dysplasia and coronary artery fistula: links to pulmonary hypertension. 61
32209581 2020
43
Coronary artery tortuosity: a narrative review. 61
31211725 2020
44
Moyamoya disease associated with fibromuscular dysplasia of intrapulmonary bronchial arteries-a case report. 61
31869771 2020
45
Optical coherence tomography-guided percutaneous transluminal angioplasty in renal artery fibromuscular dysplasia. 61
32280336 2020
46
Hemorrhagic Retinopathy and Optic Nerve Sheath Hemorrhage Associated With Fatal Subarachnoid Hemorrhage from a Ruptured Intracranial Aneurysm Due to Segmental Fibromuscular Dysplasia. 61
31553499 2020
47
Long-term outcomes and determinants of stenosis recurrence after renal artery angioplasty in hypertensive patients with renovascular disease. 61
32368238 2020
48
Fibromuscular dysplasia presenting with a deep vein thrombosis. 61
32094235 2020
49
Percutaneous transluminal angioplasty with selective stenting for the treatment of renal artery stenosis caused by fibromuscular dysplasia: 18 years' experience from the China Center for Cardiovascular Disease. 61
31943685 2020
50
Efficacy of Antihypertensive Therapy in a Child with Unilateral Focal Fibromuscular Dysplasia of the Renal Artery: A Case Study and Review of Literature. 61
32093171 2020

Variations for Fibromuscular Dysplasia

Expression for Fibromuscular Dysplasia

Search GEO for disease gene expression data for Fibromuscular Dysplasia.

Pathways for Fibromuscular Dysplasia

Pathways related to Fibromuscular Dysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.54 TGFB1 REN AGTR1 AGT ACE
2 11.33 TGFB1 AGTR1 AGT
3 11.1 REN AGTR1 AGT ACE
4
Show member pathways
10.92 TGFB1 REN AGTR1 AGT ACE

GO Terms for Fibromuscular Dysplasia

Cellular components related to Fibromuscular Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.77 YY1AP1 YY1 TGFB1 RNF213 REN PHACTR1
2 Ino80 complex GO:0031011 8.8 YY1AP1 YY1 INO80

Biological processes related to Fibromuscular Dysplasia according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.85 YY1 TGFB1 PGR ACE
2 kidney development GO:0001822 9.71 REN AGTR1 AGT ACE
3 regulation of blood pressure GO:0008217 9.67 REN AGT ACE
4 positive regulation of blood pressure GO:0045777 9.61 AGT ACE
5 response to immobilization stress GO:0035902 9.61 TGFB1 REN
6 regulation of blood vessel diameter GO:0097746 9.6 AGTR1 ACE
7 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.59 TGFB1 AGT
8 positive regulation of superoxide anion generation GO:0032930 9.58 TGFB1 AGT
9 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.58 AGTR1 AGT
10 amyloid-beta metabolic process GO:0050435 9.57 REN ACE
11 low-density lipoprotein particle remodeling GO:0034374 9.56 AGTR1 AGT
12 angiotensin maturation GO:0002003 9.54 REN ACE
13 positive regulation of cholesterol esterification GO:0010873 9.52 AGTR1 AGT
14 positive regulation of NAD(P)H oxidase activity GO:0033864 9.51 AGTR1 AGT
15 regulation of renal sodium excretion GO:0035813 9.48 AGTR1 AGT
16 regulation of blood vessel diameter by renin-angiotensin GO:0002034 9.46 AGTR1 AGT
17 regulation of blood volume by renin-angiotensin GO:0002016 9.43 REN AGT
18 regulation of vasoconstriction GO:0019229 9.43 AGTR1 AGT ACE
19 mononuclear cell proliferation GO:0032943 9.37 TGFB1 ACE
20 positive regulation of cellular protein metabolic process GO:0032270 9.33 TGFB1 AGTR1 AGT
21 regulation of renal output by angiotensin GO:0002019 9.32 AGT ACE
22 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.13 AGTR1 AGT ACE
23 renin-angiotensin regulation of aldosterone production GO:0002018 8.8 REN AGTR1 AGT

Molecular functions related to Fibromuscular Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 bradykinin receptor binding GO:0031711 8.62 AGTR1 ACE

Sources for Fibromuscular Dysplasia

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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