Aliases & Classifications for Hyperostosis

MalaCards integrated aliases for Hyperostosis:

Name: Hyperostosis 12 29 55 44 15 73
Hypertrophy of Bone 12
Bone Hypertrophy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:205
ICD10 33 M89.3 M89.30
MeSH 44 D015576
NCIt 50 C34712
SNOMED-CT 68 13814009 203514008
UMLS 73 C0020492

Summaries for Hyperostosis

Disease Ontology : 12 A bone remodeling disease that results in an abnormal growth of located in bone.

MalaCards based summary : Hyperostosis, also known as hypertrophy of bone, is related to tumoral calcinosis, hyperphosphatemic, familial, 1 and osteopathia striata with cranial sclerosis. An important gene associated with Hyperostosis is SOST (Sclerostin), and among its related pathways/superpathways are NF-KappaB Family Pathway and Wnt Signaling Pathway and Pluripotency. The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include bone, bone and spinal cord, and related phenotypes are Reduced mammosphere formation and growth/size/body region

Wikipedia : 76 Hyperostosis is an excessive growth of bone. It may lead to exostosis. It occurs in many musculoskeletal... more...

Related Diseases for Hyperostosis

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

(show top 50) (show all 226)
# Related Disease Score Top Affiliating Genes
1 tumoral calcinosis, hyperphosphatemic, familial, 1 33.4 FGF23 GALNT3 KL
2 osteopathia striata with cranial sclerosis 33.0 LRP5 TNFRSF11B
3 sclerosteosis 32.7 COL1A1 LRP4 LRP5 SOST
4 craniodiaphyseal dysplasia 32.3 LRP5 SOST TGFB1
5 van buchem disease 32.1 COL1A1 KREMEN1 LRP4 LRP5 SOST
6 sclerosteosis 2 31.9 LRP4 LRP5 SOST
7 hyperphosphatemia 30.4 FGF23 GALNT3 KL
8 familial tumoral calcinosis 30.1 FGF23 GALNT3 KL
9 renal osteodystrophy 29.9 FGF23 SOST TNFRSF11B
10 calcinosis 29.6 ANKH FGF23 GALNT3 KL
11 facial paralysis 29.4 ANKH LRP5 TGFB1
12 bone disease 26.6 COL1A1 FGF23 IGF1 LRP5 MMP13 SOST
13 osteoporosis 26.4 COL1A1 FGF23 IGF1 KL LRP5 SOST
14 diffuse idiopathic skeletal hyperostosis 12.5
15 hyperostosis frontalis interna 12.4
16 hyperostosis cranialis interna 12.4
17 calvarial hyperostosis 12.4
18 ankylosing vertebral hyperostosis with tylosis 12.3
19 endosteal hyperostosis, autosomal dominant 12.2
20 exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 12.2
21 caffey disease 12.1
22 polyosteolysis-hyperostosis syndrome 12.0
23 dysplastic cortical hyperostosis 12.0
24 sapho syndrome 11.9
25 short stature cranial hyperostosis hepatomegaly 11.8
26 short stature, cranial hyperostosis, hepatomegaly and diabetes 11.8
27 isolated sternocostoclavicular hyperostosis 11.8
28 sclerosteosis 1 11.7
29 paget disease of bone 5, juvenile-onset 11.7
30 camurati-engelmann disease 11.5
31 craniometaphyseal dysplasia, autosomal dominant 11.2
32 exostosis 11.1
33 lenz-majewski hyperostotic dwarfism 11.0
34 frontometaphyseal dysplasia 2 11.0
35 melorheostosis 11.0
36 weleber hecht bigley syndrome 11.0
37 craniodiaphyseal dysplasia, autosomal dominant 10.9
38 craniometaphyseal dysplasia, autosomal recessive 10.9
39 tumoral calcinosis, hyperphosphatemic, familial, 2 10.9
40 tumoral calcinosis, hyperphosphatemic, familial, 3 10.9
41 melorheostosis, isolated 10.8
42 buschke-ollendorff syndrome 10.8
43 raine syndrome 10.8
44 ossification of the posterior longitudinal ligament of spine 10.8
45 osteoporotic fracture 10.5 COL1A1 TNFRSF11B
46 mass syndrome 10.5 LRP5 SOST
47 kummell's disease 10.5 SOST TNFRSF11B
48 cervicitis 10.4
49 synovitis 10.4
50 tracheal calcification 10.4 FGF23 KL

Graphical network of the top 20 diseases related to Hyperostosis:



Diseases related to Hyperostosis

Symptoms & Phenotypes for Hyperostosis

GenomeRNAi Phenotypes related to Hyperostosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 GALNT3 IGF1 KREMEN1 LRP5 MAP3K7 MMP13

MGI Mouse Phenotypes related to Hyperostosis:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.31 KL LRP5 MMP13 IGF1 LRP4 GALNT3
2 cellular MP:0005384 10.28 LRP4 LRP5 KL IGF1 COL1A1 GALNT3
3 cardiovascular system MP:0005385 10.25 LRP5 KL IGF1 COL1A1 GALNT3 ANKH
4 homeostasis/metabolism MP:0005376 10.25 LRP4 KL LRP5 IGF1 GALNT3 COX4I2
5 craniofacial MP:0005382 10.13 LRP4 KL LRP5 COL1A1 GALNT3 ANKH
6 endocrine/exocrine gland MP:0005379 10.11 IGF1 LRP4 LRP5 KL COL1A1 GALNT3
7 hematopoietic system MP:0005397 10.11 IGF1 LRP5 KL COL1A1 GALNT3 ANKH
8 immune system MP:0005387 10.1 IGF1 LRP5 KL COL1A1 GALNT3 COX4I2
9 limbs/digits/tail MP:0005371 10.1 KL LRP5 MMP13 IGF1 KREMEN1 LRP4
10 integument MP:0010771 9.97 IGF1 LRP4 KL COL1A1 GALNT3 FGF23
11 hearing/vestibular/ear MP:0005377 9.88 IGF1 KL COL1A1 ANKH TNFRSF11B
12 reproductive system MP:0005389 9.81 IGF1 LRP4 KL KREMEN1 COL1A1 GALNT3
13 renal/urinary system MP:0005367 9.8 IGF1 LRP4 KL COL1A1 GALNT3 FGF23
14 respiratory system MP:0005388 9.56 LRP4 KL IGF1 COL1A1 COX4I2 ANKH
15 skeleton MP:0005390 9.44 KL LRP5 MMP13 IGF1 KREMEN1 LRP4

Drugs & Therapeutics for Hyperostosis

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

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 2 159351-69-6 6442177
2
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
4
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
5
Menthol Approved Phase 2 2216-51-5 16666
6
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
7
leucovorin Approved, Nutraceutical Phase 2 58-05-9 143 6006
8 Anti-Bacterial Agents Phase 2
9 Antibiotics, Antitubercular Phase 2
10 Antifungal Agents Phase 2
11 Anti-Infective Agents Phase 2
12 Immunosuppressive Agents Phase 2
13 Antibodies Phase 2
14 Antibodies, Monoclonal Phase 2
15 Antimetabolites Phase 2
16 Antimetabolites, Antineoplastic Phase 2
17 Antirheumatic Agents Phase 2
18 Dermatologic Agents Phase 2
19 Folic Acid Antagonists Phase 2
20 Immunoglobulins Phase 2
21 Nucleic Acid Synthesis Inhibitors Phase 2
22 Vitamin B Complex Phase 2
23 Folate Nutraceutical Phase 2
24 Vitamin B9 Nutraceutical Phase 2
25
Pamidronate Approved Phase 1 40391-99-9 4674
26 Bone Density Conservation Agents Phase 1
27 Diphosphonates Phase 1
28
Etanercept Approved, Investigational 185243-69-0
29
Sevelamer Approved 52757-95-6
30
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
31 Analgesics
32 Peripheral Nervous System Agents
33 Analgesics, Non-Narcotic
34 Anti-Inflammatory Agents
35 Anti-Inflammatory Agents, Non-Steroidal
36 Gastrointestinal Agents
37 Chelating Agents
38 Hydroxycholecalciferols
39 Micronutrients
40 Trace Elements
41 Vitamins
42 insulin Not Applicable
43 Insulin, Globin Zinc Not Applicable

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 Chronic Insertional Achilles Tendonitis Treated With or Without Flexor Hallucis Longus Tendon Transfer Completed NCT00950053 Phase 4
2 Study of Sirolimus Therapy for Segmental Overgrowth Caused by Somatic PI3K Activation Completed NCT02428296 Phase 2 Sirolimus
3 Efficacy, Safety and Tolerability of AIN457 in Patients With Rheumatoid Arthritis (RA) Taking Methotrexate (MTX) Completed NCT00928512 Phase 2 Secukinmab;Placebo
4 Flexible Footwear and Insole in Heel Pain Recruiting NCT03040557 Phase 1, Phase 2
5 An Efficacy and Safety Study of Palovarotene for the Treatment of MO Recruiting NCT03442985 Phase 2 Palovarotene 2.5 mg;Palovarotene 5.0 mg
6 Autologous Stem Cells in Achilles Tendinopathy Recruiting NCT02064062 Phase 2
7 Evaluation of an Acellular Osteochondral Graft for Cartilage LEsions Pilot Trial Terminated NCT01183637 Phase 2
8 Efficacy of Bisphosphonates in Patients With Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) Syndrome Completed NCT02544659 Phase 1 pamidronate disodium
9 Evaluation of Radiculitis Following Use of Bone Morphogenetic Protein-2 for Interbody Arthrodesis in Spinal Surgery Unknown status NCT00984672
10 Differences in Bone Cell Activity Between Rheumatoid Arthritis and Ankylosing Spondylitis Completed NCT01417455
11 Nottingham Osteoarthritis Biomarker Study 2011 Completed NCT01495455
12 Immune Response in the SAPHO Syndrome Completed NCT01688219
13 Clinical Observation Study With the SBG Stem Completed NCT02338661
14 A Comparison of the Analgesic Efficacies of Ultrasound and Shock Wave Therapy in the Patients With Calcaneal Spur Completed NCT01510249
15 Effects of Myofascial Trigger Point Dry Cupping on Plantar Heel Pain Completed NCT02895698 Not Applicable
16 Effectiveness of Manual Therapy Combined With Standard Treatment in the Management of Plantar Fasciitis Completed NCT01439932 Not Applicable
17 Characterize Patients With Moderately Active Rheumatoid Arthritis (RA) Completed NCT01557322 methotrexate (MTX)
18 The Health-Related Quality of Life in Patients With Hereditary Multiple Exostoses Completed NCT00474448
19 NGS Strategy Effectiveness in Molecular Diagnosis Completed NCT03557567
20 Natural History, Pathogenesis and Outcome of Melorheostosis A Rare Osteosclerotic Disease Recruiting NCT02504879
21 Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD) Recruiting NCT01630460
22 Analysis of a Tapered Porous Coated Stem and a Cementless Hemispherical Acetabular Component Recruiting NCT03168750 Not Applicable
23 Evaluation of Effectiveness of Selected Physical and Kinesiotherapeutic Methods in Patients With Lower Calcaneal Spur Recruiting NCT02934100 Not Applicable
24 Hypophosphatemic Rickets in Norway Active, not recruiting NCT01057186 Sevelamer
25 Magnetic Resonance Imaging in High Risk Patients for the Development of Diffuse Idiopathic Skeletal Hyperostosis (DISH) Not yet recruiting NCT03237455 Not Applicable
26 Gene Mutations and Orthopaedic Symptoms Correlation of Multiple Hereditary Exostoses: Multicentre Project Suspended NCT00474331
27 Establishing the Genetic Profile of Multiple Hereditary Exostoses (HME) in Families of BC Terminated NCT00473850

Search NIH Clinical Center for Hyperostosis

Cochrane evidence based reviews: hyperostosis

Genetic Tests for Hyperostosis

Genetic tests related to Hyperostosis:

# Genetic test Affiliating Genes
1 Hyperostosis 29

Anatomical Context for Hyperostosis

The Foundational Model of Anatomy Ontology organs/tissues related to Hyperostosis:

19
Bone

MalaCards organs/tissues related to Hyperostosis:

41
Bone, Spinal Cord, Brain, Bone Marrow, Lung, Testes, Myeloid

Publications for Hyperostosis

Articles related to Hyperostosis:

(show top 50) (show all 828)
# Title Authors Year
1
Thoracic aortic aneurysm is an independent factor associated with diffuse idiopathic skeletal hyperostosis. ( 29701101 )
2018
2
Images in Neuroscience: Calvarial hyperostosis associated with multiple intracranial tumours. ( 29428264 )
2018
3
The Natural Course of Diffuse Idiopathic Skeletal Hyperostosis in the Thoracic Spine of Adult Males. ( 29657149 )
2018
4
Regional differences in diffuse idiopathic skeletal hyperostosis: a retrospective cohort study from Sweden and Japan. ( 29916957 )
2018
5
Simultaneous Bilateral Quadriceps Tendon Rupture in a Patient with Diffuse Idiopathic Skeletal Hyperostosis after Minimal Trauma: Eight-Year Follow-Up. ( 29682378 )
2018
6
Anterior longitudinal ligament in diffuse idiopathic skeletal hyperostosis: Ossified or displaced? ( 29667228 )
2018
7
Prevalence of diffuse idiopathic skeletal hyperostosis (DISH) assessed with whole-spine computed tomography in 1479 subjects. ( 29848322 )
2018
8
The surgical management of dysphagia secondary to diffuse idiopathic skeletal hyperostosis. ( 29438856 )
2018
9
L5-S1 Charcot spine induced by diffuse idiopathic skeletal hyperostosis in chronic tetraplegia: 2 cases. ( 29920334 )
2018
10
Rich table but short life: Diffuse idiopathic skeletal hyperostosis in Danish astronomer Tycho Brahe (1546-1601) and its possible consequences. ( 29672561 )
2018
11
Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis. ( 29621230 )
2018
12
Esophageal incarceration associated with cervical vertebral fracture in a patient with diffuse idiopathic skeletal hyperostosis. ( 29935973 )
2018
13
Diffuse Idiopathic Skeletal Hyperostosis-On the Wrong Side? ( 29481728 )
2018
14
Severe hip joint motion restriction in a patient with diffuse idiopathic skeletal hyperostosis: A case report. ( 29718882 )
2018
15
Degenerative changes of the thoracic spine do exist in patients with diffuse idiopathic skeletal hyperostosis: a detailed thoracic spine CT analysis. ( 29482347 )
2018
16
Urgent Anterior Cervical Osteophytectomy for an Asymptomatic Cervical Hyperostosis to Overcome Failed Intubation. ( 29868301 )
2018
17
Traumatic spondyloptosis at the thoracolumbar junction in a patient with diffuse idiopathic skeletal hyperostosis: A case report. ( 29478625 )
2018
18
Unusual findings on infantile cortical hyperostosis: A case report. ( 29956834 )
2018
19
Diffuse idiopathic skeletal hyperostosis is associated with lumbar spinal stenosis requiring surgery. ( 29327302 )
2018
20
Meningioma and Bone Hyperostosis: Expression of Bone Stimulating Factors and Review of the Literature. ( 29729471 )
2018
21
Factors associated with bone metabolism in patients with cervical ossification of the posterior longitudinal ligament accompanied with diffuse idiopathic skeletal hyperostosis. ( 29547116 )
2018
22
Cervical Hyperostosis Leading to Dyspnea, Aspiration and Dysphagia: Strategies to Improve Patient Management. ( 29740589 )
2018
23
Diffuse Idiopathic Skeletal Hyperostosis Extended to the Lumbar Segment is a Risk Factor of Reoperation in Patients Treated Surgically for Lumbar Stenosis. ( 29481381 )
2018
24
Serum Levels of proinflammatory, antiinflammatory cytokines and RANKL/OPG in synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) Syndrome. ( 29694253 )
2018
25
Bone mineral density changes over time in diffuse idiopathic skeletal hyperostosis of the thoracic spine. ( 29649655 )
2018
26
Prevalence of Diffuse Idiopathic Skeletal Hyperostosis Diagnosed by Whole Spine Computed Tomography: A Preliminary Study. ( 29564046 )
2018
27
A frontal sinus osteoma accompanied by an intracranial mucocele and local hyperostosis frontalis interna. ( 29452329 )
2018
28
Thoracic spondylolisthesis and spinal cord compression in diffuse idiopathic skeletal hyperostosis: a case report. ( 28363281 )
2017
29
A rare association of dysphagia and cervical compressive myelopathy in diffuse idiopathic skeletal hyperostosis. ( 28084279 )
2017
30
Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) Syndrome with Significant Bilateral Pleural Effusions. ( 28924111 )
2017
31
Correction: Diffuse idiopathic skeletal hyperostosis (DISH): where we are now and where to go next. ( 29177083 )
2017
32
Odontoid Fracture in a Patient With Diffuse Idiopathic Skeletal Hyperostosis. ( 28255505 )
2017
33
Diffuse Idiopathic Skeletal Hyperostosis Involving Cervical and Lumbar Spine Presenting with Dysphagia: A Case Report. ( 28819624 )
2017
34
Cervical diffuse idiopathic skeletal hyperostosis (DISH) causing oropharyngeal dysphagia. ( 28314808 )
2017
35
Diffuse idiopathic skeletal hyperostosis (DISH): where we are now and where to go next. ( 28955488 )
2017
36
Spinal fracture in diffuse idiopathic skeletal hyperostosis. ( 28986210 )
2017
37
SAPHO Syndrome: Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis. ( 28250311 )
2017
38
Magnetic resonance imaging in diffuse idiopathic skeletal hyperostosis: similarities to axial spondyloarthritis. ( 28364275 )
2017
39
Hyperostosis Frontalis Interna in a Child With Severe Traumatic Brain Injury. ( 28503629 )
2017
40
Treatment-Refractory Sternocostoclavicular Hyperostosis. ( 28751466 )
2017
41
Transorbital endoscopic eyelid approach for resection of sphenoorbital meningiomas with predominant hyperostosis: report of 2 cases. ( 28862553 )
2017
42
Prevalence of thoracic diffuse idiopathic skeletal hyperostosis (DISH) in Japanese: Results of chest CT-based cross-sectional study. ( 27697426 )
2017
43
A rare case of Eagle syndrome and diffuse idiopathic skeletal hyperostosis in the cervical spine. ( 28928500 )
2017
44
Swallowing disorders among patients with diffuse idiopathic skeletal hyperostosis. ( 28084872 )
2017
45
Diffuse idiopathic skeletal hyperostosis causing L4 and L5 nerve root entrapment. ( 28941276 )
2017
46
Spinal Epidural Hematoma Related to Vertebral Fracture in an Atypical Rigid Diffuse Idiopathic Skeletal Hyperostosis: A Case Report. ( 28255506 )
2017
47
Relationship between diffuse idiopathic skeletal hyperostosis, abdominal aortic calcification and associated metabolic disorders: Data from the Camargo Cohort. ( 28283270 )
2017
48
Styloid Process Elongation on Cervical Spine Computed Tomography is Associated with the Enthesopathy-Related Diseases of Ankylosing Spondylitis and Diffuse Idiopathic Skeletal Hyperostosis. ( 29185278 )
2017
49
Sternocostoclavicular Hyperostosis: An Insufficiently Recognized Clinical Entity. ( 28469489 )
2017
50
Frontal Hyperostosis in the Patients of Craniosynostosis After Cranial Distraction Osteogenesis. ( 28938316 )
2017

Variations for Hyperostosis

Expression for Hyperostosis

Search GEO for disease gene expression data for Hyperostosis.

Pathways for Hyperostosis

GO Terms for Hyperostosis

Cellular components related to Hyperostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.76 COL1A1 FGF23 IGF1 KL MMP13 SOST
2 extracellular matrix GO:0031012 9.26 COL1A1 MMP13 SOST TGFB1
3 extracellular space GO:0005615 9.23 COL1A1 FGF23 IGF1 KL MMP13 SOST

Biological processes related to Hyperostosis according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.8 FGF23 IGF1 KL TGFB1 TNFRSF11B
2 Wnt signaling pathway GO:0016055 9.73 KREMEN1 LRP4 LRP5 SOST
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.67 IGF1 LRP4 TGFB1
4 fibroblast growth factor receptor signaling pathway GO:0008543 9.65 FGF23 GALNT3 KL
5 positive regulation of transcription, DNA-templated GO:0045893 9.63 COL1A1 FGF23 IGF1 LRP5 SOST TGFB1
6 positive regulation of mitotic nuclear division GO:0045840 9.58 IGF1 LRP5
7 endochondral ossification GO:0001958 9.57 COL1A1 MMP13
8 phosphate-containing compound metabolic process GO:0006796 9.56 FGF23 TGFB1
9 skeletal system development GO:0001501 9.56 ANKH COL1A1 IGF1 TNFRSF11B
10 regulation of bone mineralization GO:0030500 9.55 ANKH FGF23
11 cell activation GO:0001775 9.54 IGF1 TGFB1
12 positive regulation of transcription regulatory region DNA binding GO:2000679 9.52 IGF1 TGFB1
13 response to magnesium ion GO:0032026 9.51 FGF23 TNFRSF11B
14 cellular response to parathyroid hormone stimulus GO:0071374 9.46 FGF23 SOST
15 Wnt signaling pathway involved in dorsal/ventral axis specification GO:0044332 9.37 LRP4 LRP5
16 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.32 FGF23 KL
17 regulation of canonical Wnt signaling pathway GO:0060828 9.13 KREMEN1 LRP4 LRP5
18 negative regulation of ossification GO:0030279 8.92 KREMEN1 LRP4 SOST TGFB1

Molecular functions related to Hyperostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor binding GO:0005104 8.96 FGF23 KL
2 Wnt-activated receptor activity GO:0042813 8.62 LRP4 LRP5

Sources for Hyperostosis

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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