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MCID: OTS001
MIFTS: 52

Otosclerosis

Categories: Ear diseases, Rare diseases, Genetic diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Otosclerosis

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MalaCards integrated aliases for Otosclerosis:

Name: Otosclerosis 12 76 29 55 15 73

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Ear diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:12185
ICD9CM 35 387.8
SNOMED-CT 68 194382008 194691004
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Summaries for Otosclerosis

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Disease Ontology : 12 An otitis interna characterized by an abnormal bone growth in the middle ear.

MalaCards based summary : Otosclerosis is related to ankylosis and osteoporosis, and has symptoms including earache An important gene associated with Otosclerosis is OTSC2 (Otosclerosis 2), and among its related pathways/superpathways are Degradation of the extracellular matrix and Human Embryonic Stem Cell Pluripotency. The drugs Acetylcysteine and Antidotes have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and t cells, and related phenotypes are cardiovascular system and craniofacial

Wikipedia : 76 Otosclerosis or otospongiosis is an abnormal growth of bone near the middle ear. It can result in... more...

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Related Diseases for Otosclerosis

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Diseases in the Otosclerosis family:

Otosclerosis 1 Otosclerosis 2
Otosclerosis 3 Otosclerosis 5
Otosclerosis 4 Otosclerosis 7
Otosclerosis 8 Otosclerosis 10
Otosclerosis, Familial

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

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 ankylosis 29.9 BMP2 BMP4 NOG TNFRSF11B
2 osteoporosis 28.6 BMP2 BMP4 COL1A1 COL1A2 NOG SLC26A2
3 otosclerosis 1 12.3
4 otosclerosis 10 12.2
5 otosclerosis 3 12.1
6 otosclerosis 2 12.1
7 otosclerosis, familial 12.0
8 otosclerosis 5 11.9
9 otosclerosis 4 11.9
10 otosclerosis 7 11.9
11 otosclerosis 8 11.9
12 buschke-ollendorff syndrome 11.3
13 deafness, progressive, with stapes fixation 10.9
14 ehlers-danlos/osteogenesis imperfecta syndrome 10.8 COL1A1 COL1A2
15 high bone mass osteogenesis imperfecta 10.7 COL1A1 COL1A2
16 larsen-like syndrome 10.6 COL1A1 COL1A2
17 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
18 osseous heteroplasia, progressive 10.5 BMP2 BMP4 NOG
19 spondyloepiphyseal dysplasia congenita 10.5 COL1A1 COL1A2 SLC26A2
20 proximal symphalangism 10.5 BMP2 BMP4 NOG
21 osteogenesis imperfecta, type viii 10.4 COL1A1 COL1A2
22 bone development disease 10.4 COL1A1 COL1A2 SLC26A2
23 osteoporotic fracture 10.4 COL1A1 TNFRSF11B
24 bone resorption disease 10.4 BMP2 COL1A1 TNFRSF11B
25 aortic valve disease 1 10.4 BMP2 TGFB1 TNFRSF11B
26 osteogenesis imperfecta, type iv 10.4 COL1A1 COL1A2 SERPINF1
27 bruck syndrome 10.3 COL1A1 COL1A2 SERPINF1
28 hyperostosis 10.3 COL1A1 TGFB1 TNFRSF11B
29 osteogenesis imperfecta, type vii 10.3 COL1A1 COL1A2
30 synovial chondromatosis 10.3 BMP2 BMP4 COL1A1 NOG
31 osteogenesis imperfecta, type i 10.3 COL1A1 COL1A2 TNFRSF11B
32 measles 10.3
33 osteogenesis imperfecta, type iii 10.3 COL1A1 COL1A2 SERPINF1
34 sensorineural hearing loss 10.2
35 aortic valve disease 2 10.2 AGT BMP2 TNFRSF11B
36 tympanosclerosis 10.1 BMP2 COL1A1
37 superior semicircular canal dehiscence 10.1
38 aging 10.0
39 otitis media 9.9
40 labyrinthitis 9.9
41 diastrophic dysplasia 9.8
42 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.8
43 brittle bone disorder 9.8
44 mastoiditis 9.8
45 suppurative otitis media 9.8
46 ehlers-danlos syndrome 9.8
47 neuroma 9.8
48 auditory system disease 9.8
49 autoimmune disease 9.7
50 diabetes mellitus, noninsulin-dependent 9.7

Graphical network of the top 20 diseases related to Otosclerosis:



Diseases related to Otosclerosis
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Symptoms & Phenotypes for Otosclerosis

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UMLS symptoms related to Otosclerosis:


earache

MGI Mouse Phenotypes related to Otosclerosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.1 TGFB1 TNFRSF11B AGT BMP2 BMP4 CD46
2 craniofacial MP:0005382 9.91 BMP2 BMP4 COL1A1 NOG SLC26A2 TGFB1
3 digestive/alimentary MP:0005381 9.87 COL1A1 NOG RELN SERPINF1 TGFB1 BMP2
4 limbs/digits/tail MP:0005371 9.8 BMP2 BMP4 COL1A1 COL1A2 NOG SLC26A2
5 muscle MP:0005369 9.7 AGT BMP4 COL1A1 COL1A2 NOG RELN
6 reproductive system MP:0005389 9.61 AGT BMP2 BMP4 CD46 COL1A1 NOG
7 skeleton MP:0005390 9.28 BMP2 BMP4 COL1A1 COL1A2 NOG SERPINF1
Sources

Drugs & Therapeutics for Otosclerosis

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
2 Antidotes Phase 4
3 Anti-Infective Agents Phase 4
4 Antioxidants Phase 4
5 Antiviral Agents Phase 4
6 Expectorants Phase 4
7 N-monoacetylcystine Phase 4
8 Protective Agents Phase 4
9 Respiratory System Agents Phase 4
10
tiludronate Approved, Investigational, Vet_approved Phase 3 89987-06-4 60937
11 Bone Density Conservation Agents Phase 3
12 Diphosphonates Phase 3

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Efficacy of Acetylcysteine in Patients Undergoing Surgery for Otosclerosis Completed NCT00525551 Phase 4 Acetylcysteine;Placebo (NaCl)
2 Therapeutic Efficacy of Tiludronic Acid on Inner Ear Involvement in Advanced Otosclerosis Terminated NCT01617057 Phase 3 tiludronic acid;Placebo
3 Audiometric Parameters in Conductive Hearing Loss and Middle Ear Disease Unknown status NCT00222417
4 Taste Disorders in Middle Ear Disease and After Middle Ear Surgery Unknown status NCT01584011
5 Hearing Aid Versus Surgical Rehabilitation as Treatment of Otosclerosis: Pilot Study Completed NCT02456272 Not Applicable
6 Quantification of Prosthesis Penetration With Conebeam in Otosclerosis Completed NCT02901093
7 Objective Measurement of Ossicular Chain Mobility Using a Palpating Instrument Intraoperatively Completed NCT02554422 Not Applicable
8 Clinical Assessment of the External Sound Processor Worn by Patients Implanted With Codacs Completed NCT02156167 Not Applicable
9 Cone Beam CT for Diagnosis of Select Otorhinolaryngology (ENT) Indications at Lower Dose Completed NCT01855425
10 Healthful Diets and Risk of Hearing Loss Completed NCT03351023
11 Cone Beam and CT Scan for the Diagnosis of Otosclerosis (TACOS) Recruiting NCT02435446 Not Applicable
12 Wide Frequency Band Test of Hearing in Veterans Enrolling by invitation NCT02019888
13 Robot Based Tympanic Tube Placement Not yet recruiting NCT03569943 Not Applicable

Search NIH Clinical Center for Otosclerosis

Sources

Genetic Tests for Otosclerosis

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Genetic tests related to Otosclerosis:

# Genetic test Affiliating Genes
1 Otosclerosis 29
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Anatomical Context for Otosclerosis

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MalaCards organs/tissues related to Otosclerosis:

41
Bone, Testes, T Cells, Cortex, Eye
Sources

Publications for Otosclerosis

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Articles related to Otosclerosis:

(show top 50) (show all 657)
# Title Authors Year
1
Predictive factors in 995 stapes surgeries for primary otosclerosis. ( 29570801 )
2018
2
Controversies in the Evaluation and Management of Otosclerosis. ( 29502731 )
2018
3
The Audiology of Otosclerosis. ( 29397946 )
2018
4
History of Otosclerosis and Stapes Surgery. ( 29502722 )
2018
5
Otosclerosis With Concomitant Anterior Malleolar Ligament Fixation. ( 29227459 )
2018
6
Otosclerosis: Temporal Bone Pathology. ( 29397947 )
2018
7
Otosclerosis and Stapes Surgery. ( 29502732 )
2018
8
Absence of Measles Virus Detection from Stapes of Patients with Otosclerosis. ( 28971731 )
2018
9
Use of Lasers in Otosclerosis Surgery. ( 29502726 )
2018
10
Potential of Robot-Based Surgery for Otosclerosis Surgery. ( 29502730 )
2018
11
Long-Term Hearing Outcomes following Stapedotomy in Patients with Otosclerosis and Preoperative Small Air-Bone Gap. ( 29698956 )
2018
12
Medical Management of Otosclerosis. ( 29502728 )
2018
13
Special Anatomic Considerations in Otosclerosis Surgery. ( 29397114 )
2018
14
Connexin 26 Immunohistochemistry in Temporal Bones With Cochlear Otosclerosis. ( 29911391 )
2018
15
Pedigree Analysis and Audiological Investigations of Otosclerosis: An Extended Family Based Study. ( 29890816 )
2018
16
Evidence of distinct RELN and TGFB1 genetic associations in familial and non-familial otosclerosis in a British population. ( 29728750 )
2018
17
Stapes surgery preserving the superstructure of stapes (Takagi's stapedotomy) in otosclerosis: A retrospective study of 24 consecutive cases. ( 29773417 )
2018
18
Living with otosclerosis: disease-specific health-related quality-of-life measurement in patients undergoing stapes surgery. ( 29116384 )
2018
19
Advanced Otosclerosis: Stapes Surgery or Cochlear Implantation? ( 29502727 )
2018
20
Management of Chronic Suppurative Otitis Media and Otosclerosis in Developing Countries. ( 29525390 )
2018
21
Clinical Evaluation of the Patient with Otosclerosis. ( 29395113 )
2018
22
Minimally traumatic stapes surgery for otosclerosis: Risk reduction of post-operative vertigo. ( 29428320 )
2018
23
Impact of Imaging in Management of Otosclerosis. ( 29502724 )
2018
24
Revision Surgery for Otosclerosis. ( 29502729 )
2018
25
An internally validated prognostic model for success in revision stapes surgery for otosclerosis. ( 29520797 )
2018
26
Prevention and Management of Complications in Otosclerosis Surgery. ( 29397113 )
2018
27
An alternative approach to mixed hearing loss in otosclerosis: stapes surgery combined with an active middle-ear implant. ( 29891017 )
2018
28
Otosclerosis: From Genetics to Molecular Biology. ( 29502723 )
2018
29
Importance of a dedicated neuroradiologist in reporting high-resolution computed tomography for otosclerosis: a retrospective comparison study of 40 patients. ( 28318477 )
2017
30
Diagnostic performance of high resolution computed tomography in otosclerosis. ( 28798924 )
2017
31
Cochlear implantation in patients with otosclerosis of the otic capsule. ( 28549773 )
2017
32
Otosclerosis: An update on diagnosis and treatment. ( 28060022 )
2017
33
An Assessment of the Clinical Acceptability of Direct Acoustic Cochlear Implantation for Adults With Advanced Otosclerosis in the United Kingdom. ( 28538469 )
2017
34
Surgical Results and Complications of Cochlear Implantation in Far-Advanced Otosclerosis. ( 29360086 )
2017
35
The surgical treatment results of otosclerosis at the Department of Otolaryngology Silesian Medical University in Zabrze in years 2000-2010. ( 28485298 )
2017
36
Audiological outcome of stapes surgery for far advanced cochlear otosclerosis. ( 28874211 )
2017
37
Does Otosclerosis Affect Dark and Transitional Cells in the Human Vestibular Labyrinth? ( 27851656 )
2017
38
Cochlear Implantation in Otosclerosis: Surgical and Auditory Outcomes With a Brief on Facial Nerve Stimulation. ( 28902803 )
2017
39
Third-generation bisphosphonates for cochlear otosclerosis stabilizes sensorineural hearing loss in long-term follow-up. ( 29094069 )
2017
40
[The application of stapedoplasty for the treatment of hearing loss in the patients suffering from obliterative otosclerosis]. ( 29260778 )
2017
41
Prevalence of Internal Auditory Canal Diverticulum and Its Association with Hearing Loss and Otosclerosis. ( 28982792 )
2017
42
Additive value of "otosclerosis-weighted" images for the CT diagnosis of fenestral otosclerosis. ( 28090791 )
2017
43
Early Postoperative Imaging of the Labyrinth by Cone Beam CT After Stapes Surgery for Otosclerosis With Correlation to Audiovestibular Outcome. ( 28068300 )
2017
44
Identifying Otosclerosis with Aural Acoustical Tests of Absorbance, Group Delay, Acoustic Reflex Threshold, and Otoacoustic Emissions. ( 28972472 )
2017
45
[The application of the modern high-energy laser technologies for the surgical treatment of the patients presenting with otosclerosis]. ( 28252592 )
2017
46
Diagnosis of Superior Semicircular Canal Dehiscence in the Presence of Concomitant Otosclerosis. ( 28657952 )
2017
47
The Effect of Piston Diameter in Stapedotomy for Otosclerosis: A Temporal Bone Model. ( 27642666 )
2016
48
Magnetic resonance imaging evaluation of endolymphatic hydrops andpost-operative findings in cases with otosclerosis. ( 27676652 )
2016
49
Diagnostic efficacy and therapeutic impact of computed tomography in the evaluation of clinically suspected otosclerosis. ( 27364152 )
2016
50
Update on the imaging diagnosis of otosclerosis. ( 27267384 )
2016
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Variations for Otosclerosis

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Expression for Otosclerosis

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

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Pathways related to Otosclerosis according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Degradation of the extracellular matrix 66
Show member pathways
 12.42 BMP2 BMP4 COL1A1 COL1A2 TGFB1
2
Human Embryonic Stem Cell Pluripotency 64
Show member pathways
 12.22 BMP2 BMP4 NOG TGFB1
3
Senescence and Autophagy in Cancer 1
11.71 BMP2 COL1A1 TGFB1
4
AGE-RAGE signaling pathway in diabetic complications 37
11.67 COL1A1 COL1A2 TGFB1
5
Amoebiasis 37
11.62 COL1A1 COL1A2 TGFB1
6
Elastic fibre formation 66
Show member pathways
 11.44 BMP2 BMP4 TGFB1
7
Adipogenesis 1
11.38 AGT BMP2 BMP4 TGFB1
8
TGF-beta Receptor Signaling (WikiPathways) 1
11.26 BMP4 NOG TGFB1
9
Cardiac Progenitor Differentiation 1
11.16 BMP4 NOG TGFB1
10
Differentiation Pathway 1
11.01 BMP4 NOG TGFB1
11
TGF-beta signaling pathway (KEGG) 37
10.85 BMP2 BMP4 NOG TGFB1
12
Osteoblast Signaling 1
10.58 COL1A1 TNFRSF11B
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GO Terms for Otosclerosis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.85 AGT BMP2 BMP4 COL1A1 COL1A2 NOG
2 extracellular matrix GO:0031012 9.56 COL1A1 COL1A2 SERPINF1 TGFB1
3 extracellular space GO:0005615 9.32 AGT BMP2 BMP4 COL1A1 COL1A2 NOG
4 collagen type I trimer GO:0005584 8.96 COL1A1 COL1A2

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

(show top 50) (show all 64)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell migration GO:0030335 9.98 BMP2 BMP4 COL1A1 TGFB1
2 kidney development GO:0001822 9.91 AGT BMP4 SERPINF1
3 positive regulation of neuron projection development GO:0010976 9.9 AGT RELN SERPINF1
4 response to estradiol GO:0032355 9.9 AGT COL1A1 TGFB1
5 wound healing GO:0042060 9.89 COL1A1 NOG TGFB1
6 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.89 AGT RELN TGFB1
7 neural tube closure GO:0001843 9.88 BMP4 NOG TGFB1
8 cellular response to mechanical stimulus GO:0071260 9.88 AGT COL1A1 TGFB1
9 cartilage development GO:0051216 9.87 BMP2 BMP4 NOG
10 positive regulation of epithelial cell proliferation GO:0050679 9.85 BMP4 NOG TGFB1
11 SMAD protein signal transduction GO:0060395 9.84 BMP2 BMP4 TGFB1
12 cell development GO:0048468 9.84 BMP2 BMP4 TGFB1
13 regulation of MAPK cascade GO:0043408 9.83 BMP2 BMP4 TGFB1
14 cellular response to growth factor stimulus GO:0071363 9.82 BMP2 BMP4 TGFB1
15 blood vessel development GO:0001568 9.82 BMP4 COL1A1 COL1A2
16 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.79 BMP2 BMP4 TGFB1
17 negative regulation of cell cycle GO:0045786 9.79 BMP2 BMP4 TGFB1
18 ureteric bud development GO:0001657 9.78 BMP4 NOG TGFB1
19 chondrocyte differentiation GO:0002062 9.76 BMP2 BMP4 TGFB1
20 osteoblast differentiation GO:0001649 9.76 BMP2 BMP4 COL1A1 NOG
21 epithelial to mesenchymal transition GO:0001837 9.75 BMP2 NOG TGFB1
22 embryonic skeletal system development GO:0048706 9.74 BMP4 COL1A1 NOG
23 positive regulation of cellular protein metabolic process GO:0032270 9.73 AGT TGFB1
24 endocardial cushion morphogenesis GO:0003203 9.73 BMP2 NOG
25 positive regulation of cartilage development GO:0061036 9.73 BMP2 BMP4
26 cellular response to BMP stimulus GO:0071773 9.73 BMP2 BMP4 NOG
27 positive regulation of ossification GO:0045778 9.72 BMP2 BMP4
28 positive regulation of superoxide anion generation GO:0032930 9.72 AGT TGFB1
29 protein heterotrimerization GO:0070208 9.72 COL1A1 COL1A2
30 positive regulation of bone mineralization GO:0030501 9.72 BMP2 BMP4 TGFB1
31 response to arsenic-containing substance GO:0046685 9.71 SERPINF1 TNFRSF11B
32 pathway-restricted SMAD protein phosphorylation GO:0060389 9.71 BMP2 TGFB1
33 positive regulation of SMAD protein signal transduction GO:0060391 9.71 BMP4 TGFB1
34 embryonic skeletal joint morphogenesis GO:0060272 9.7 BMP4 NOG
35 membranous septum morphogenesis GO:0003149 9.7 BMP4 NOG
36 mesenchymal cell differentiation GO:0048762 9.7 BMP2 NOG
37 positive regulation of regulatory T cell differentiation GO:0045591 9.69 CD46 TGFB1
38 skin morphogenesis GO:0043589 9.69 COL1A1 COL1A2
39 renal system process GO:0003014 9.68 AGT BMP4
40 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.68 BMP4 TGFB1
41 regulation of protein import into nucleus GO:0042306 9.67 BMP4 TGFB1
42 face morphogenesis GO:0060325 9.67 COL1A1 NOG TGFB1
43 BMP signaling pathway GO:0030509 9.67 BMP2 BMP4 NOG TGFB1
44 telencephalon regionalization GO:0021978 9.66 BMP2 BMP4
45 pharyngeal arch artery morphogenesis GO:0061626 9.65 BMP4 NOG
46 endoderm development GO:0007492 9.65 BMP4 NOG TGFB1
47 regulation of odontogenesis of dentin-containing tooth GO:0042487 9.63 BMP2 BMP4
48 BMP signaling pathway involved in heart development GO:0061312 9.63 BMP4 NOG
49 common-partner SMAD protein phosphorylation GO:0007182 9.62 BMP4 TGFB1
50 ossification GO:0001503 9.62 BMP2 BMP4 COL1A1 SLC26A2

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.56 BMP2 BMP4 TGFB1 TNFRSF11B
2 growth factor activity GO:0008083 9.46 AGT BMP2 BMP4 TGFB1
3 co-receptor binding GO:0039706 9.37 BMP2 BMP4
4 platelet-derived growth factor binding GO:0048407 9.32 COL1A1 COL1A2
5 transforming growth factor beta receptor binding GO:0005160 9.13 BMP2 BMP4 TGFB1
6 BMP receptor binding GO:0070700 8.8 BMP2 BMP4 TGFB1
Sources

Sources for Otosclerosis

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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
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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