MCID: LVD003
MIFTS: 46

Livedoid Vasculitis

Categories: Cardiovascular diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Livedoid Vasculitis

MalaCards integrated aliases for Livedoid Vasculitis:

Name: Livedoid Vasculitis 11 19 14 71 75 31 33
Livedoid Vasculopathy 11 19 58 28 33
Livedo Reticularis with Summer Ulcerations 19 58
Livedo Vasculitis 19 71
Livedo Reticularis with Winter Ulcerations 19
Livedo Reticularis with Summer Ulceration 33
Segmental Hyalinizing Vasculopathy 19
Segmental Hyalinizing Vasculitis 58
Milian Atrophie Blanche 58

Characteristics:


Prevelance:

Livedoid Vasculopathy: 1-9/100000 (United States) 58

Age Of Onset:

Livedoid Vasculopathy: Adolescent,Adult 58

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare skin diseases


Summaries for Livedoid Vasculitis

Orphanet: 58 A rare vascular skin disease characterized by recurrent focal non-inflammatory thrombosis of dermal venulae, predominantly of the lower extremities, resulting in a cutaneous response manifested as pruritus and painful papules and erythematous plaques. The lesions evolve into hemorrhagic vesicles or bullae, which rupture and turn into painful ulcers merging into reticulate, confluent, geometric, and painful ulcerations. During a period of a few months, the ulcerations change to porcelain-white atrophic scars with punctate telangiectasia (so-called atrophie blanche). In active disease, lesions in different stages coexist.

MalaCards based summary: Livedoid Vasculitis, also known as livedoid vasculopathy, is related to vasculitis and homocysteinemia. An important gene associated with Livedoid Vasculitis is F2 (Coagulation Factor II, Thrombin), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). Affiliated tissues include skin, endothelial and kidney, and related phenotypes are skin ulcer and anemia

GARD: 19 Livedoid vasculopathy is a blood vessel disorder that causes painful ulcers and scarring (atrophie blanche) on the feet and lower legs. Livedoid vasculopathy lesions appear as painful red or purple marks and spots that may progress to small, tender, irregular ulcers. Livedoid vasculopathy may occur alone or in combination with another condition, such as lupus or thrombophilia.

Disease Ontology: 11 A vasculitis with purpuric ulcers.

Wikipedia: 75 Livedoid vasculopathy is a chronic cutaneous disease seen predominantly in young to middle-aged women.... more...

Related Diseases for Livedoid Vasculitis

Diseases related to Livedoid Vasculitis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 306)
# Related Disease Score Top Affiliating Genes
1 vasculitis 30.9 PRTN3 APOH ADA2
2 homocysteinemia 30.3 MTHFR F2
3 venous insufficiency 30.2 SERPINE1 MTHFR F2
4 hypersensitivity vasculitis 30.1 PRTN3 F2
5 hyperhomocysteinemia 30.0 SERPINE1 SERPINC1 MTHFR F2 APOH
6 polyarteritis nodosa 29.9 PRTN3 APOH ADA2
7 purpura 29.9 SERPINC1 F3 F2 APOH
8 sickle cell anemia 29.9 SERPINC1 F3 F2
9 protein c deficiency 29.8 SERPINE1 SERPINC1 MTHFR F2 APOH
10 mononeuritis multiplex 29.7 PRTN3 APOH ADA2
11 factor v deficiency 29.7 SERPINC1 F3 F2
12 sneddon syndrome 29.6 SERPINC1 F2 APOH ADA2
13 exanthem 29.6 PRTN3 F3 F2
14 prothrombin deficiency 29.3 SERPINC1 F3 F2 APOH
15 chronic venous insufficiency 29.2 SERPINE1 SERPINC1 PLG F3 F2
16 retinal artery occlusion 29.2 SERPINE1 SERPINC1 PLG MTHFR F2 APOH
17 antiphospholipid syndrome 29.1 SERPINE1 SERPINC1 MTHFR F3 F2 APOH
18 deficiency anemia 29.0 SERPINC1 PRTN3 PLG F3 F2
19 thrombophilia due to thrombin defect 29.0 SERPINE1 SERPINC1 MTHFR F3 F2 APOH
20 thrombophilia 29.0 SERPINF2 SERPINE1 SERPINC1 MTHFR F3 F2
21 protein s deficiency 28.8 SERPINE1 SERPINC1 MTHFR F3 F2 APOH
22 vascular disease 28.8 SERPINE1 SERPINC1 MTHFR F3 F2 APOH
23 thrombophilia due to activated protein c resistance 28.7 SERPINE1 SERPINC1 PLG MTHFR F3 F2
24 antithrombin iii deficiency 28.7 SERPINC1 PLG MTHFR F3 F2 APOH
25 disseminated intravascular coagulation 28.7 SERPINF2 SERPINE1 SERPINC1 PLG F3 F2
26 intracranial thrombosis 28.7 SERPINC1 PLG MTHFR F3 F2 APOH
27 transient cerebral ischemia 28.7 SERPINC1 PLG MTHFR F3 F2 APOH
28 systemic lupus erythematosus 28.5 SERPINC1 PRTN3 PLG F3 F2 APOH
29 central retinal artery occlusion 28.5 SERPINC1 PRTN3 PLG MTHFR F3 F2
30 thrombosis 28.0 SERPINF2 SERPINE1 SERPINC1 PLG MTHFR F3
31 stroke, ischemic 27.2 SERPINF2 SERPINE1 SERPINC1 PRTN3 PLG MTHFR
32 skin disease 10.4
33 muscular dystrophy, congenital merosin-deficient, 1a 10.4
34 hypolipoproteinemia 10.3
35 telangiectasis 10.3
36 anterior spinal artery syndrome 10.3 PLG F2
37 collagen disease 10.2
38 amaurosis fugax 10.2 SERPINE1 MTHFR
39 premature ovarian failure 19 10.2 SERPINE1 PLG
40 pleural empyema 10.2 PLG F2
41 fibrinolytic defect 10.2 SERPINE1 SERPINC1
42 abducens palsy 10.2 SERPINC1 F2
43 spondyloarthropathy 1 10.1
44 dermatomyositis 10.1
45 hepatitis b 10.1
46 spondylitis 10.1
47 lateral medullary syndrome 10.1 PRTN3 PLG
48 heparin cofactor ii deficiency 10.1 SERPINC1 PLG
49 splenic tuberculosis 10.1 PRTN3 F2
50 encephalopathy, familial, with neuroserpin inclusion bodies 10.1 SERPINC1 PLG

Graphical network of the top 20 diseases related to Livedoid Vasculitis:



Diseases related to Livedoid Vasculitis

Symptoms & Phenotypes for Livedoid Vasculitis

Human phenotypes related to Livedoid Vasculitis:

58 30 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skin ulcer 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0200042
2 anemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001903
3 telangiectasia of the skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0100585
4 varicose veins 58 30 Frequent (33%) Frequent (79-30%)
HP:0002619
5 cutis marmorata 58 30 Frequent (33%) Frequent (79-30%)
HP:0000965
6 elevated erythrocyte sedimentation rate 58 30 Frequent (33%) Frequent (79-30%)
HP:0003565
7 pedal edema 58 30 Frequent (33%) Frequent (79-30%)
HP:0010741
8 abnormality of complement system 58 30 Frequent (33%) Frequent (79-30%)
HP:0005339
9 recurrent skin infections 58 30 Frequent (33%) Frequent (79-30%)
HP:0001581
10 atrophic scars 58 30 Frequent (33%) Frequent (79-30%)
HP:0001075
11 poor wound healing 58 30 Frequent (33%) Frequent (79-30%)
HP:0001058
12 hypercoagulability 58 30 Frequent (33%) Frequent (79-30%)
HP:0100724
13 lower limb pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0012514
14 enlargement of the ankles 58 30 Frequent (33%) Frequent (79-30%)
HP:0003029
15 abnormal thrombosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001977
16 hyperpigmented streaks 58 30 Frequent (33%) Frequent (79-30%)
HP:0007572
17 abnormal capillary morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0025016
18 diabetes mellitus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000819
19 hypertension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000822
20 abnormal circulating lipid concentration 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003119
21 paresthesia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003401
22 hyperesthesia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100963
23 reduced antithrombin iii activity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001976
24 reduced protein c activity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005543
25 erythematous papule 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030350
26 ecchymosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0031364
27 antinuclear antibody positivity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003493
28 lupus anticoagulant 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0025343
29 superficial dermal perivascular inflammatory infiltrate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0031190
30 hyperhomocystinemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002160
31 reduced protein s activity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004855
32 abnormality of the peripheral nervous system 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0410008
33 multiple mononeuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0032018
34 reduced plasminogen activator inhibitor 1 activity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0040248
35 abnormal foot morphology 30 Occasional (7.5%) HP:0001760
36 polycythemia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001901
37 pancytopenia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001876
38 leukocytosis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001974
39 graves disease 58 30 Very rare (1%) Very rare (<4-1%)
HP:0100647
40 systemic lupus erythematosus 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002725
41 ischemic stroke 58 30 Very rare (1%) Very rare (<4-1%)
HP:0002140
42 allergy 58 30 Very rare (1%) Very rare (<4-1%)
HP:0012393
43 autoimmunity 58 Frequent (79-30%)
44 abnormality of the foot 58 Occasional (29-5%)
45 venous insufficiency 58 Occasional (29-5%)
46 abnormality of the lower limb 58 Very frequent (99-80%)
47 hyperpigmentation of the skin 58 Frequent (79-30%)
48 macular purpura 58 Occasional (29-5%)
49 abnormality of fibrinolysis 58 Occasional (29-5%)

GenomeRNAi Phenotypes related to Livedoid Vasculitis according to GeneCards Suite gene sharing:

25 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.66 ADA2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.66 ADA2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.66 ADA2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-119 9.66 PRTN3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.66 PRTN3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-134 9.66 ADA2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.66 PRTN3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.66 MTHFR
9 Increased shRNA abundance (Z-score > 2) GR00366-A-179 9.66 PRTN3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-18 9.66 ADA2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.66 MTHFR
12 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.66 ADA2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-209 9.66 PRTN3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.66 MTHFR
15 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.66 MTHFR
16 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.66 ADA2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.66 MTHFR
18 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.66 MTHFR
19 Increased shRNA abundance (Z-score > 2) GR00366-A-80 9.66 ADA2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.66 PRTN3
21 Increased shRNA abundance (Z-score > 2) GR00366-A-97 9.66 ADA2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.66 PRTN3

Drugs & Therapeutics for Livedoid Vasculitis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Correlation of Genetic Polymorphism and Livedo Vasculitis Completed NCT00975871

Search NIH Clinical Center for Livedoid Vasculitis

Genetic Tests for Livedoid Vasculitis

Genetic tests related to Livedoid Vasculitis:

# Genetic test Affiliating Genes
1 Livedoid Vasculopathy 28

Anatomical Context for Livedoid Vasculitis

Organs/tissues related to Livedoid Vasculitis:

MalaCards : Skin, Endothelial, Kidney

Publications for Livedoid Vasculitis

Articles related to Livedoid Vasculitis:

(show top 50) (show all 321)
# Title Authors PMID Year
1
Immunosuppression use in primary antiphospholipid antibody-positive patients: Descriptive analysis of the AntiPhospholipid Syndrome Alliance for Clinical Trials and InternatiOnal Networking (APS ACTION) Clinical Database and Repository ("Registry"). 62
36206383 2022
2
Vascular Disease Patient Information Page: Livedoid vasculopathy. 62
36285833 2022
3
Livedoid vasculopathy: A review with focus on terminology and pathogenesis. 62
36285834 2022
4
Botulinum toxin-A: A novel treatment for livedoid vasculopathy. 62
36186404 2022
5
Livedoid vasculopathy and peripheral neuropathy: A retrospective cohort study of 55 Chinese patients and literature review. 62
36333819 2022
6
Refractory livedoid vasculopathy successfully treated with baricitinib. 62
36349427 2022
7
Clinical, Laboratory, Histopathological and Therapeutic Profile of Livedoid Vasculopathy: A Case Series of 17 Patients. 62
36386750 2022
8
Clinical analysis of skin lesions in livedoid vasculopathy: a study of 46 Chinese patients. 62
36411590 2022
9
Livedoid Vasculopathy Associated With Plasminogen Activator Inhibitor-1 Polymorphisms Treated With Factor Xa Inhibitors. 62
35636505 2022
10
Efficacy of adalimumab in the treatment of refractory livedoid vasculopathy: Case report and literature review. 62
35760761 2022
11
Excellent Long-term Clinical Response to Rivaroxaban in Livedoid Vasculopathy: A Retrospective Study. 62
36115384 2022
12
Platelet count and plateletcrit: Potential haematological biomarkers for livedoid vasculopathy? 62
35635484 2022
13
Comparative Efficacy of Rivaroxaban and Immunoglobulin Therapy in the Treatment of Livedoid Vasculopathy: A Systematic Review. 62
36051980 2022
14
Refractory livedoid vasculopathy in a child successfully treated with baricitinib. 62
35726859 2022
15
A novel combination ("CHAP") regimen for management of livedoid vasculopathy in 12 patients. 62
35787412 2022
16
Peripheral neuropathy and livedoid vasculopathy. 62
35166926 2022
17
Patients with laboratory criteria of anti-phospholipid syndrome and 'non-criteria' manifestations: a multicenter cohort. 62
35723613 2022
18
Treatment of Livedoid Vasculopathy With Baricitinib. 62
35353137 2022
19
Adalimumab in Treating Refractory Livedoid Vasculopathy. 62
35455298 2022
20
Exacerbation of livedoid vasculopathy after coronavirus disease 2019. 62
35171794 2022
21
Efficacy of an anti-TNF-alpha agent in refractory livedoid vasculopathy: a retrospective analysis. 62
32116074 2022
22
Real-world data on pain management and effectiveness of anti-tumour necrosis factor agents in refractory livedoid vasculopathy. 62
34416092 2022
23
Baricitinib is potentially effective in the treatment of refractory livedoid vasculopathy. 62
36389811 2022
24
Medium-pressure hyperbaric oxygen therapy for livedoid vasculopathy. 62
35904919 2022
25
Efficacy and safety of intravenous immunoglobulin for treating refractory livedoid vasculopathy: a systematic review. 62
35634570 2022
26
Livedoid Vasculitis in a Patient With Sjogren Syndrome Successfully Treated With Methotrexate. 62
35342318 2022
27
Livedoid vasculopathy - A diagnostic and therapeutic challenge. 62
36262273 2022
28
Primary and Secondary Livedoid Vasculopathy: A Report of 2 Cases. 62
34889819 2022
29
Livedoid vasculopathy: A multidisciplinary clinical approach to diagnosis and management. 62
35024414 2021
30
Livedoid vasculopathy and its association with genetic variants: A systematic review. 62
33686673 2021
31
An Observational Study of Mucocutaneous Manifestations among SARS-CoV-2 Patients from Three COVID-19 Dedicated Tertiary Care Centers. 62
34667754 2021
32
Intravenous Immunoglobulin Therapy in Livedoid Vasculopathy: Retrospective Observation of Clinical Outcome and Patient's Activity Level. 62
33779349 2021
33
Rivaroxaban for treatment of livedoid vasculopathy: A systematic review. 62
34197012 2021
34
A novel use of intermittent low dose dabigatran for maintenance of remission in livedoid vasculopathy. 62
34028946 2021
35
Cutaneous involvement by T-cell prolymphocytic leukemia presenting as livedoid vasculopathy. 62
33837964 2021
36
Livedoid vasculopathy: A challenging disease to diagnose. 62
32619286 2021
37
Recrudescence of livedoid vasculopathy induced by COVID-19. 62
33527356 2021
38
Direct immunofluorescence findings in livedoid vasculopathy: a 10-year study and literature review. 62
32986882 2021
39
Methylene tetrahydrofolate reductase C677T polymorphism in Korean livedoid vasculopathy patients. 62
32599117 2021
40
Livedoid vasculopathy in 75 Brazilian patients in a single-center institution: Clinical, histopathological and therapy evaluation. 62
33496999 2021
41
Remission of long-standing livedoid vasculopathy using a whole foods plant-based diet with symptoms recurrent on re-challenge with standard Western diet. 62
33622761 2021
42
Livedoid vasculopathy: Clinical course and long-term outcome in Asian patients with a review of the literature. 62
33219608 2021
43
From dermatological conditions to COVID-19: Reasoning for anticoagulation, suppression of inflammation, and hyperbaric oxygen therapy. 62
33219572 2021
44
Plasminogen activator inhibitor-1: a potential etiological role in livedoid vasculopathy. 62
33043622 2020
45
Livedoid Vasculopathy Associated with Antiphospholipid Antibody Presenting with Leg Ulcer. 62
32451825 2020
46
A Case of Livedoid Vasculopathy Successfully Treated with Sulodexide. 62
33911794 2020
47
Refractory ulcerations associated with livedoid vasculopathy successfully treated with tofacitinib. 62
33112475 2020
48
[Diagnosis and treatment of vasculitic ulcerations]. 62
32997218 2020
49
Unraveling the mystery of Covid-19 cytokine storm: From skin to organ systems. 62
32559324 2020
50
[Non-healing wounds]. 62
33201630 2020

Variations for Livedoid Vasculitis

Expression for Livedoid Vasculitis

Search GEO for disease gene expression data for Livedoid Vasculitis.

Pathways for Livedoid Vasculitis

Pathways related to Livedoid Vasculitis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.62 SERPINF2 SERPINE1 SERPINC1 PRTN3 PLG F3
2
Show member pathways
11.95 SERPINC1 PLG F2
3
Show member pathways
11.63 SERPINF2 SERPINE1 SERPINC1 PRTN3 PLG F3
4 11.59 SERPINE1 PLG F3
5 11.05 SERPINE1 PLG
6 11 F3 F2
7 10.86 PLG F2
8 10.45 SERPINF2 SERPINE1 PLG
9 10.1 PLG F2

GO Terms for Livedoid Vasculitis

Cellular components related to Livedoid Vasculitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.09 SERPINF2 SERPINE1 SERPINC1 PRTN3 PLG F3
2 extracellular space GO:0005615 9.91 ADA2 APOH F2 F3 PLG PRTN3
3 blood microparticle GO:0072562 9.86 SERPINF2 SERPINC1 PLG F2
4 platelet alpha granule lumen GO:0031093 9.8 SERPINF2 SERPINE1 PLG
5 collagen-containing extracellular matrix GO:0062023 9.53 SERPINF2 SERPINE1 SERPINC1 PRTN3 PLG F3

Biological processes related to Livedoid Vasculitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.97 SERPINC1 PLG F3 F2
2 negative regulation of endopeptidase activity GO:0010951 9.95 SERPINF2 SERPINE1 SERPINC1
3 positive regulation of blood coagulation GO:0030194 9.8 APOH F2 SERPINE1
4 negative regulation of blood coagulation GO:0030195 9.76 SERPINE1 APOH
5 negative regulation of plasminogen activation GO:0010757 9.73 SERPINF2 SERPINE1
6 negative regulation of peptidase activity GO:0010466 9.58 SERPINF2 SERPINE1 SERPINC1
7 regulation of blood coagulation GO:0030193 9.56 SERPINC1 F2 APOH
8 fibrinolysis GO:0042730 9.56 SERPINF2 SERPINE1 PLG F2
9 hemostasis GO:0007599 9.46 SERPINC1 PLG F3 F2
10 negative regulation of fibrinolysis GO:0051918 9.32 SERPINF2 SERPINE1 PLG F2 APOH

Molecular functions related to Livedoid Vasculitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 10.01 SERPINE1 PRTN3 PLG F2
2 serine-type endopeptidase inhibitor activity GO:0004867 9.8 SERPINF2 SERPINE1 SERPINC1
3 serine-type peptidase activity GO:0008236 9.77 PRTN3 PLG F2
4 serine-type endopeptidase activity GO:0004252 9.76 F2 F3 PLG PRTN3
5 heparin binding GO:0008201 9.56 SERPINC1 F2 APOH ADA2
6 peptidase inhibitor activity GO:0030414 9.43 SERPINF2 SERPINE1 SERPINC1
7 protease binding GO:0002020 9.23 SERPINF2 SERPINE1 SERPINC1 F3

Sources for Livedoid Vasculitis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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