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MCID: HYP068
MIFTS: 47

Hyperostosis

Categories: Bone diseases
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Aliases & Classifications for Hyperostosis

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MalaCards integrated aliases for Hyperostosis:

Name: Hyperostosis 11 53 5 43 14 71 75
Hypertrophy of Bone 11 31 33
Periosteum Thickening 33
Bone Hypertrophy 11
Bone Thickening 33

Classifications:

MalaCards categories:
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 31
ICD11: 33


External Ids:

Disease Ontology 11 DOID:205
MeSH 43 D015576
NCIt 49 C34712
SNOMED-CT 68 13814009
ICD10 31 M89.3
ICD11 33 103936902
UMLS 71 C0020492
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Summaries for Hyperostosis

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Disease Ontology: 11 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 diffuse idiopathic skeletal hyperostosis. An important gene associated with Hyperostosis is POLR3GL (RNA Polymerase III Subunit GL), and among its related pathways/superpathways are Signal Transduction and Signaling by Receptor Tyrosine Kinases. The drugs Pamidronic acid and Diphosphonates have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and spinal cord, and related phenotypes are homeostasis/metabolism and growth/size/body region

Wikipedia: 75 Hyperostosis is an excessive growth of bone. It may lead to exostosis. It occurs in many musculoskeletal... more...
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Related Diseases for Hyperostosis

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

(show top 50) (show all 625)
# Related Disease Score Top Affiliating Genes
1 tumoral calcinosis, hyperphosphatemic, familial, 1 33.1 KL GALNT3 FGF23
2 diffuse idiopathic skeletal hyperostosis 33.0 SOST IGF1 ACVR1
3 van buchem disease 32.9 SOST LRP5 LRP4 KREMEN1 COL1A1
4 endosteal hyperostosis, autosomal dominant 32.7 TNFRSF11B SOST LRP5 COL1A1
5 sclerosteosis 32.4 SOST LRP5 LRP4 KREMEN1 COL1A1
6 osteopathia striata with cranial sclerosis 32.4 SOST LRP5
7 sclerosteosis 1 32.2 TNFRSF11B SOST LRP4
8 camurati-engelmann disease 32.2 TNFRSF11B SOST LRP5 ANKH ACVR1
9 craniodiaphyseal dysplasia 32.1 SOST LRP5 ANKH
10 craniodiaphyseal dysplasia, autosomal dominant 32.1 SOST LRP5
11 sclerosteosis 2 31.7 SOST LRP5 LRP4 KREMEN1
12 craniometaphyseal dysplasia, autosomal dominant 31.5 TNFRSF11B SPP1 SOST GJA1 ANKH ALPL
13 enthesopathy 31.0 SOST KL GALNT3 FGF23 ALPL
14 ankylosis 30.6 TNFRSF11B SPP1 SOST ANKH ALPL ACVR1
15 fibrous dysplasia 30.6 SPP1 IGF1 FGF23
16 calcinosis 30.5 SPP1 KL GALNT3 FGF23 ANKH
17 hyperphosphatemia 30.5 TNFRSF11B SPP1 KL GALNT3 FGF23
18 rickets 30.3 SPP1 KL IGF1 GALNT3 FGF23 ALPL
19 bone disease 30.2 TNFRSF11B SPP1 SOST MMP13 LRP5 IGF1
20 arthropathy 30.2 TNFRSF11B MMP13 IGF1 ANKH ALPL
21 autosomal recessive hypophosphatemic rickets 30.2 KL GALNT3 FGF23
22 hypophosphatemia 30.2 SPP1 SOST KL FGF23
23 tendinitis 30.1 MMP13 IGF1
24 chondrocalcinosis 30.1 TNFRSF11B ANKH ALPL
25 chromosome 2q35 duplication syndrome 30.1 SOST LRP5 LRP4 GJA1
26 mccune-albright syndrome 30.1 SOST LRP5 IGF1 GALNT3 FGF23
27 osteogenesis imperfecta, type vi 30.0 SOST COL1A1
28 arterial calcification of infancy 30.0 SPP1 KL FGF23 ANKH ALPL
29 osteomalacia 29.9 SOST FGF23 ALPL
30 renal osteodystrophy 29.9 TNFRSF11B IGF1 FGF23
31 primary hyperparathyroidism 29.9 SOST KL FGF23 COL1A1
32 parathyroid gland disease 29.9 SOST KL IGF1 FGF23
33 osteogenic sarcoma 29.9 TNFRSF11B SPP1 IGF1 ALPL
34 scoliosis 29.8 TNFRSF11B SLC39A14 MMP13 IGF1 COL1A1
35 tooth agenesis 29.8 POLR3GL LRP5 KREMEN1 COL1A1
36 familial calcium pyrophosphate deposition 29.8 TNFRSF11B ANKH
37 beta-thalassemia 29.8 TNFRSF11B KL IGF1 FGF23
38 hyperparathyroidism 29.8 TNFRSF11B SOST KL IGF1 FGF23
39 pseudoxanthoma elasticum 29.8 SPP1 ANKH ALPL
40 osteoporosis 29.7 TNFRSF11B SPP1 SOST LRP5 KL IGF1
41 craniosynostosis 29.7 SPP1 LRP5 FGF23 ANKH ALPL
42 brittle bone disorder 29.7 TNFRSF11B SPP1 SOST MMP13 LRP5 IGF1
43 secondary hyperparathyroidism 29.7 TNFRSF11B KL FGF23
44 hypophosphatemic rickets, x-linked dominant 29.7 SPP1 SOST KL GALNT3 FGF23 ALPL
45 diabetes mellitus 29.7 SPP1 SOST LRP5 KL IGF1 FGF23
46 chronic kidney disease 29.6 TNFRSF11B SPP1 SOST KL IGF1 FGF23
47 kidney disease 29.2 TNFRSF11B SPP1 SOST LRP5 KL IGF1
48 osteochondrodysplasia 28.9 TNFRSF11B SPP1 SOST MMP13 LRP5 IGF1
49 caffey disease 11.7
50 hyperostosis cranialis interna 11.6

Graphical network of the top 20 diseases related to Hyperostosis:



Diseases related to Hyperostosis
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Symptoms & Phenotypes for Hyperostosis

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MGI Mouse Phenotypes related to Hyperostosis:

45 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.49 ACVR1 ALPL ANKH COL1A1 COX4I2 FGF23
2 growth/size/body region MP:0005378 10.46 ACVR1 ALPL ANKH COL1A1 COX4I2 FGF23
3 limbs/digits/tail MP:0005371 10.45 ACVR1 ALPL ANKH COL1A1 FGF23 GALNT3
4 nervous system MP:0003631 10.35 ACVR1 ALPL COL1A1 GJA1 IGF1 KL
5 cellular MP:0005384 10.35 ACVR1 ALPL ANKH COL1A1 GALNT3 GJA1
6 muscle MP:0005369 10.3 ACVR1 ALPL ANKH COL1A1 GALNT3 GJA1
7 cardiovascular system MP:0005385 10.27 ACVR1 ALPL ANKH COL1A1 FGF23 GALNT3
8 behavior/neurological MP:0005386 10.25 ACVR1 ALPL ANKH COL1A1 COX4I2 GJA1
9 immune system MP:0005387 10.25 ACVR1 ALPL ANKH COL1A1 COX4I2 FGF23
10 craniofacial MP:0005382 10.24 ACVR1 ALPL ANKH COL1A1 GALNT3 GJA1
11 skeleton MP:0005390 10.19 ACVR1 ALPL ANKH COL1A1 FGF23 GALNT3
12 renal/urinary system MP:0005367 10.17 COL1A1 FGF23 GALNT3 IGF1 KL LRP4
13 reproductive system MP:0005389 10.1 ALPL ANKH COL1A1 FGF23 GALNT3 GJA1
14 hearing/vestibular/ear MP:0005377 10.07 ACVR1 ANKH COL1A1 GJA1 IGF1 KL
15 respiratory system MP:0005388 10.07 ALPL ANKH COL1A1 COX4I2 FGF23 GJA1
16 hematopoietic system MP:0005397 9.93 ALPL ANKH COL1A1 FGF23 GALNT3 GJA1
17 mortality/aging MP:0010768 9.83 ACVR1 ALPL ANKH COL1A1 FGF23 GJA1
18 integument MP:0010771 9.28 COL1A1 FGF23 GALNT3 GJA1 IGF1 KL
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Drugs & Therapeutics for Hyperostosis

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pamidronic acid Approved Phase 1 40391-99-9 4674
2 Diphosphonates Phase 1
3 Insulin, Globin Zinc
4
Insulin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Unrandomized, Open Label Single-center Study to Assess the Long Term Efficacy of Intravenous Bisphosphonates for Bone Marrow Edema in Patients With SAPHO Syndrome Completed NCT02544659 Phase 1 pamidronate disodium
2 Characterizing Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) With 68Ga-FAPI PET/CT Unknown status NCT04596462 Early Phase 1 68Ga-FAPI
3 Immune Mechanisms During SAPHO Syndrome and Treatment by Etarnecept Completed NCT01688219
4 Magnetic Resonance Imaging in High Risk Patients for the Development of Diffuse Idiopathic Skeletal Hyperostosis (DISH) Recruiting NCT03237455
5 Identification of Mutations That Lead to Craniometaphyseal Dysplasia in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms Recruiting NCT01630460

Search NIH Clinical Center for Hyperostosis

Cochrane evidence based reviews: hyperostosis

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Genetic Tests for Hyperostosis

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Anatomical Context for Hyperostosis

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Organs/tissues related to Hyperostosis:

MalaCards : Bone, Bone Marrow, Spinal Cord, Heart, Brain, Prostate, Skin
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Publications for Hyperostosis

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Articles related to Hyperostosis:

(show top 50) (show all 4176)
# Title Authors PMID Year
1
Genetic analysis and effect of triiodothyronine and prednisone trial on bone turnover in a patient with craniotubular hyperostosis. 53 62
18538647 2008
2
Prenatal cortical hyperostosis with COL1A1 gene mutation. 53 62
18553566 2008
3
A novel missense mutation in GALNT3 causing hyperostosis-hyperphosphataemia syndrome. 53 62
18322299 2008
4
A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders. 53 62
17009344 2006
5
A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene. 53 62
15869924 2005
6
The natural course of bridging osteophyte formation on MRI-A pictorial illustration. 62
36340242 2023
7
Factors associated with favorable visual outcome after surgery of clinoidal meningiomas. 62
36356437 2022
8
Imaging in osteopetrosis. 62
36116759 2022
9
Hyperphosphatemic familial tumoral calcinosis mimicking a cystic hemo-lymphangioma on MRI. 62
36193273 2022
10
Retinoid-induced skeletal hyperostosis in disorders of keratinization. 62
35988035 2022
11
Morgagni-Stewart-Morell syndrome presenting with neurological symptoms: a case report. 62
36452994 2022
12
Dysphagia Due to Diffuse Idiopathic Skeletal Hyperostosis. 62
36413104 2022
13
Outcomes following conservative treatment of extension fractures in the setting of diffuse idiopathic skeletal hyperostosis: is external orthosis alone a reasonable option? 62
35932260 2022
14
Coexistence of flavum ligament ossification with diffuse idiopathic skeletal hyperostosis in the cervical spine: Review of literature and technical note starting from a rare case. 62
36087693 2022
15
Anatomical study for elucidating the stabilization mechanism in the trapeziometacarpal joint. 62
36456627 2022
16
Osteoarthritis year in review 2022: biology. 62
36150676 2022
17
Computed tomography features of discospondylitis in dogs. 62
36208075 2022
18
Medial patellofemoral ligament is a part of the vastus medialis obliquus and vastus intermedius aponeuroses attaching to the medial epicondyle. 62
35523877 2022
19
Diffuse idiopathic skeletal hyperostosis associated ossification of the posterior longitudinal ligament. 62
35738469 2022
20
Synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome associated with pyoderma gangrenosum: report of two patients. 62
36345566 2022
21
Coincidence of pachydermoperiostosis and synovitis, acne, pustulosis, hyperostosis, osteitis syndrome, a causal or casual association? 62
35938529 2022
22
Outcomes of spinal cord injury following cervical fracture in ankylosing spondylitis and diffuse idiopathic skeletal hyperostosis (DISH): A prospective cohort study. 62
36333086 2022
23
Back-to-back: The co-occurrence of DISH and ankylosing spondylitis from early modern Poland. 62
36375277 2022
24
A case of diffuse idiopathic hyperostosis of bone (DISH) in a patient on hemodialysis. 62
36401745 2022
25
Giant Skull Tumor: A Benign Meningioma. 62
35761446 2022
26
Diffuse Idiopathic Skeletal Hyperostosis Prevalence, Characteristics, and Associated Comorbidities: A Cross-Sectional Study of 1815 Whole Spine CT Scans. 62
36289007 2022
27
Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone. 62
36270742 2022
28
Zero-Profile Implant System for Treatment of Dysphagia Caused by Noncontiguous Anterior Cervical Osteophytes-A Case Report with Literature Review. 62
35924683 2022
29
Balloon pulmonary angioplasty for chronic thromboembolic pulmonary hypertension concomitant with Klippel-Trenaunay-Weber syndrome. 62
36438451 2022
30
Development and Validation of a Clinical Prediction Model to Diagnose Sinonasal Inverted Papilloma Based on Computed Tomography Features and Clinical Characteristics. 62
36264012 2022
31
Hyperostosis Frontalis Interna and a Question on Its Pathology: A Case Report. 62
36217295 2022
32
Frequency of hyperostosis frontalis interna in patients with active acromegaly: is there a possible role of GH excess or hyperprolactinemia in its etiopathogenesis? 62
36223065 2022
33
Clinical characteristics of 10 Chinese patients with melorheostosis and identification of a somatic MAP2K1 variant in one case. 62
36004822 2022
34
Successful treatment of nail involvement using leflunomide in a patient with synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome. 62
36309922 2022
35
Work productivity and activity in patients with SAPHO syndrome: a cross-sectional observational study. 62
36271426 2022
36
Tumor necrosis factor inhibitors for pediatric patients with SAPHO syndrome associated with acne conglobata. 62
36224598 2022
37
An unusual case of Dyke-Davidoff-Masson syndrome revealed by status epilepticus in a Malian patient. 62
36267824 2022
38
Prevalence and characteristics of diffuse idiopathic skeletal hyperostosis (DISH) in Italy. 62
36057932 2022
39
Dysphagia Due to Diffuse Idiopathic Skeletal Hyperostosis. 62
36251761 2022
40
Surgical Treatment of Diffuse Idiopathic Skeletal Hyperostosis (DISH) Involving the Cervical Spine: Technical Nuances and Outcome of a Multicenter Experience. 62
33590802 2022
41
Long-term effect of bilateral anterior elevation of occlusion on the temporomandibular joints. 62
33979023 2022
42
Hyperostotic bones observed in the first record specimen of spotted sicklefish, Drepane punctata (Linnaeus, 1788), from the Gulf of Oman. 62
36222095 2022
43
Rare Causes of Unilateral Vocal Fold Paralysis: Report of 3 Cases with Review of Literature. 62
36452531 2022
44
Incidence and Predictive Factors of Massive Hemothorax Due to Thoracic Vertebral Fractures. 62
36348683 2022
45
Rib hyperostosis: a benign entity with suspicious imaging features. 62
35755111 2022
46
Diffuse idiopathic skeletal hyperostosis of the cervical spine causing dysphagia and airway obstruction: an updated systematic review. 62
35283294 2022
47
Synovitis-acne-pustulosis-hyperostosis-osteitis Syndrome with Bilateral Pleural Effusion. 62
35135914 2022
48
Long-term imaging course of Chiari malformation type I due to fibrous dysplasia/McCune-Albright syndrome. 62
35790572 2022
49
The potential for over diagnosis of Paget's disease of bone using macroscopic analysis. 62
35816770 2022
50
Klippel-Trenaunay Syndrome: Employment of a New Endovascular Treatment Technique-Mechanochemical Ablation Using the Flebogrif System. 62
36142903 2022
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Variations for Hyperostosis

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ClinVar genetic disease variations for Hyperostosis:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLR3GL NM_032305.3(POLR3GL):c.326-1G>A SNV Likely Pathogenic
 617636 rs1553763618 GRCh37: 1:145457605-145457605
GRCh38: 1:145977482-145977482
2 POLR3GL NM_032305.3(POLR3GL):c.-41-1G>A SNV Likely Pathogenic
 617676 rs782661984 GRCh37: 1:145460264-145460264
GRCh38: 1:145974824-145974824
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Expression for Hyperostosis

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Search GEO for disease gene expression data for Hyperostosis.
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Pathways for Hyperostosis

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Pathways related to Hyperostosis according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Signal Transduction 66
13.57 COL1A1 FGF23 GALNT3 GJA1 IGF1 KL
2
Signaling by Receptor Tyrosine Kinases 66
12.56 SPP1 KL IGF1 GALNT3 FGF23 COL1A1
3
Malignant pleural mesothelioma 74
12.5 SOST LRP5 KREMEN1 IGF1 FGF23
4
Breast cancer pathway 74
Show member pathways
 12.27 LRP5 IGF1 FGF23 ACVR1
5
Adhesion 3
11.83 MMP13 GJA1 COL1A1
6
Vitamin D receptor pathway 74
11.82 TNFRSF11B SPP1 LRP5 KL FGF23
7
Endochondral ossification 74
Show member pathways
 11.81 SPP1 MMP13 IGF1 ALPL
8
Mesenchymal Stem Cells and Lineage-specific Markers 65
11.71 SPP1 IGF1 GJA1
9
Cell adhesion_ECM remodeling 22
11.49 MMP13 IGF1 COL1A1
10
Clock-controlled autophagy in bone metabolism 74
11.46 TNFRSF11B SOST LRP5 IGF1
11
FGF signaling pathway 61
11.42 SPP1 KL FGF23
12
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
11.24 SPP1 MMP13 COL1A1
13
Type I collagen synthesis in the context of osteogenesis imperfecta 74
11.13 TNFRSF11B LRP5 COL1A1
14
Extracellular vesicles in the crosstalk of cardiac cells 74
10.92 SPP1 IGF1
15
Transcription_Role of VDR in regulation of genes involved in osteoporosis 22
10.91 TNFRSF11B SPP1 IGF1 COL1A1
16
Negative regulation of TCF-dependent signaling by WNT ligand antagonists 66
Show member pathways
 10.82 SOST LRP5 KREMEN1
17
Genes targeted by miRNAs in adipocytes 74
10.66 IGF1 GJA1
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GO Terms for Hyperostosis

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of DNA-templated transcription GO:0045893 10.36 ACVR1 COL1A1 FGF23 IGF1 LRP5 SOST
2 fibroblast growth factor receptor signaling pathway GO:0008543 10.01 KL GALNT3 FGF23
3 bone mineralization GO:0030282 10 MMP13 ANKH ALPL
4 endochondral ossification GO:0001958 9.88 ALPL COL1A1 MMP13
5 cellular response to parathyroid hormone stimulus GO:0071374 9.85 SOST FGF23
6 negative regulation of ossification GO:0030279 9.85 SOST LRP4 KREMEN1
7 skeletal system development GO:0001501 9.85 ALPL ANKH COL1A1 IGF1 TNFRSF11B
8 response to vitamin D GO:0033280 9.8 SPP1 KL ALPL
9 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.78 KL FGF23
10 cementum mineralization GO:0071529 9.76 ANKH ALPL
11 response to macrophage colony-stimulating factor GO:0036005 9.73 SPP1 ALPL
12 phosphate ion homeostasis GO:0055062 9.73 FGF23 ANKH ALPL
13 obsolete biomineralization GO:0110148 9.49 ANKH ALPL
14 response to sodium phosphate GO:1904383 9.43 FGF23 ANKH ALPL
15 calcium ion homeostasis GO:0055074 9.23 KL FGF23 ANKH ALPL
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Sources for Hyperostosis

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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