MCID: CRT017
MIFTS: 53

Cartilage Disease

Categories: Bone diseases, Ear diseases, Smell/Taste diseases

Aliases & Classifications for Cartilage Disease

MalaCards integrated aliases for Cartilage Disease:

Name: Cartilage Disease 39 12 15 17
Cartilage Diseases 56 45 74
Cartilage Disorders 44
Cartilage Disorder 12
Chondropathy 12
Cartilage 17

Classifications:



External Ids:

Disease Ontology 12 DOID:1222
MeSH 45 D002357
SNOMED-CT 69 50927007
UMLS 74 C0007302

Summaries for Cartilage Disease

MedlinePlus : 44 Cartilage is the tough but flexible tissue that covers the ends of your bones at a joint. It also gives shape and support to other parts of your body, such as your ears, nose and windpipe. Healthy cartilage helps you move by allowing your bones to glide over each other. It also protects bones by preventing them from rubbing against each other. Injured, inflamed, or damaged cartilage can cause symptoms such as pain and limited movement. It can also lead to joint damage and deformity. Causes of cartilage problems include Tears and injuries, such as sports injuries Genetic factors Other disorders, such as some types of arthritis Osteoarthritis results from breakdown of cartilage. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

MalaCards based summary : Cartilage Disease, also known as cartilage diseases, is related to kniest dysplasia and patella, chondromalacia of, and has symptoms including back pain, sciatica and muscle cramp. An important gene associated with Cartilage Disease is COL10A1 (Collagen Type X Alpha 1 Chain), and among its related pathways/superpathways are Degradation of the extracellular matrix and Spinal Cord Injury. The drugs Hyaluronic acid and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and t cells, and related phenotypes are homeostasis/metabolism and immune system

Wikipedia : 77 Cartilage is a resilient and smooth elastic tissue, a rubber-like padding that covers and protects the... more...

Related Diseases for Cartilage Disease

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

(show top 50) (show all 651)
# Related Disease Score Top Affiliating Genes
1 kniest dysplasia 33.0 COL2A1 COMP
2 patella, chondromalacia of 33.0 COMP GSTO1
3 diastrophic dysplasia 32.5 COL2A1 COMP
4 multiple epiphyseal dysplasia 32.4 ACAN COL2A1 COMP
5 spondyloepiphyseal dysplasia with congenital joint dislocations 32.2 ACAN COL2A1
6 skeletal dysplasias 32.1 COL2A1 COMP
7 achondrogenesis, type ia 31.7 ACAN COL2A1
8 rheumatoid arthritis 31.6 COMP CRP IL1RN TNF
9 pseudoachondroplasia 30.7 ACAN COMP
10 relapsing polychondritis 30.5 COMP CRP
11 osteochondritis dissecans 30.5 ACAN COMP
12 arthritis 30.5 ACAN COL2A1 IL1RN TNF
13 pyle disease 30.2 COL10A1 COL2A1
14 metaphyseal chondrodysplasia, schmid type 30.0 COL10A1 COMP
15 coxa vara 29.9 COL10A1 COL2A1
16 spondyloepimetaphyseal dysplasia, strudwick type 29.9 COL10A1 COL2A1
17 synovitis 29.9 COMP CRP IL1RN TNF
18 hypochondrogenesis 29.8 ACAN COL2A1 COMP
19 juvenile rheumatoid arthritis 29.8 CRP IL1RN TNF
20 arthropathy 29.8 ACAN COMP CRP TNF
21 spondyloepiphyseal dysplasia congenita 29.8 COL10A1 COL2A1 COMP
22 tendinitis 29.7 COMP CRP
23 psoriatic arthritis 29.7 COMP CRP TNF
24 spondylocarpotarsal synostosis syndrome 29.7 COL10A1 COL2A1
25 epiphyseal dysplasia, multiple, 1 29.6 ACAN COMP
26 spondylitis 29.6 CRP IL1RN TNF
27 achondrogenesis, type ii 29.5 ACAN COL2A1 COMP
28 chondromalacia 29.5 COMP GSTO1 IL1RN TNFRSF10A
29 reactive arthritis 29.4 COMP CRP TNF
30 bone disease 29.4 ACAN COL10A1 COL2A1 TNF
31 joint disorders 29.3 IL1RN TNF
32 osteoarthritis 29.3 ACAN COL2A1 COMP TNF
33 brucellosis 28.9 CRP IL1RN TNF
34 bone inflammation disease 28.1 ACAN COL2A1 COMP CRP IL1RN TNF
35 cartilage-hair hypoplasia 12.6
36 laryngeal cartilage cancer 12.3
37 ossified ear cartilages 12.1
38 cartilage-hair hypoplasia - anauxetic dysplasia spectrum disorders 12.1
39 cartilage cancer 12.1
40 keutel syndrome 12.0
41 odontochondrodysplasia 11.9
42 magic syndrome 11.9
43 metaphyseal dysplasia without hypotrichosis 11.7
44 ewing sarcoma 11.6
45 familial osteochondritis dissecans 11.5
46 arthropathy, progressive pseudorheumatoid, of childhood 11.5
47 achondroplasia 11.5
48 alkaptonuria 11.5
49 chondrosarcoma 11.4
50 collagenopathy type 2 alpha 1 11.4

Graphical network of the top 20 diseases related to Cartilage Disease:



Diseases related to Cartilage Disease

Symptoms & Phenotypes for Cartilage Disease

UMLS symptoms related to Cartilage Disease:


back pain, sciatica, muscle cramp

MGI Mouse Phenotypes related to Cartilage Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.56 COL2A1 COMP CRP GSTO1 IL1RN SLC26A1
2 immune system MP:0005387 9.23 COL10A1 COL2A1 COMP CRP IL1RN SLC26A1

Drugs & Therapeutics for Cartilage Disease

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

(show top 50) (show all 71)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hyaluronic acid Approved, Vet_approved Phase 4,Phase 2,Phase 1,Not Applicable 9004-61-9 53477741
2 Pharmaceutical Solutions Phase 4,Phase 1,Not Applicable
3 Protective Agents Phase 4,Phase 2,Not Applicable
4 Immunologic Factors Phase 4,Phase 2,Phase 1,Not Applicable
5 Viscosupplements Phase 4,Phase 2,Not Applicable
6 Adjuvants, Immunologic Phase 4,Phase 2,Not Applicable
7
Ketoprofen Approved, Vet_approved Phase 3 22071-15-4 3825
8 Fibrin Tissue Adhesive Phase 3,Phase 2,Not Applicable
9 Anesthetics Phase 2, Phase 3,Not Applicable
10 Anti-Inflammatory Agents, Non-Steroidal Phase 3
11 Cyclooxygenase Inhibitors Phase 3
12 Peripheral Nervous System Agents Phase 3,Phase 1
13 Anti-Inflammatory Agents Phase 3
14 Antirheumatic Agents Phase 3,Phase 1,Phase 2
15 Analgesics, Non-Narcotic Phase 3,Phase 1
16 Analgesics Phase 3,Phase 1,Not Applicable
17 Mitogens Phase 3,Not Applicable
18
Cisplatin Approved Phase 1, Phase 2 15663-27-1 2767 441203 84093
19 Coagulants Phase 1, Phase 2
20 Anticoagulants Phase 1, Phase 2
21 Interleukin 1 Receptor Antagonist Protein Phase 1, Phase 2
22 Antibodies, Monoclonal Phase 1, Phase 2
23 Immunoglobulins Phase 1, Phase 2
24 Antibodies Phase 1, Phase 2
25
Abatacept Approved Phase 1 332348-12-6 10237
26
Aldesleukin Approved Phase 1 110942-02-4, 85898-30-2
27
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907
28
Gemcitabine Approved Phase 1 95058-81-4 60750
29
Serine Approved, Nutraceutical Phase 1 56-45-1 5951
30
Emodepside Investigational, Vet_approved Phase 1 155030-63-0
31 Anti-Infective Agents Phase 1,Not Applicable
32 Antiviral Agents Phase 1,Not Applicable
33 Daminozide Phase 1 1596-84-5
34 Immunosuppressive Agents Phase 1
35 Anti-Retroviral Agents Phase 1
36 Alkylating Agents Phase 1
37 Anti-HIV Agents Phase 1
38 Interleukin-2 Phase 1
39 Antineoplastic Agents, Alkylating Phase 1
40 Antimetabolites Phase 1
41 Antimetabolites, Antineoplastic Phase 1
42 Proton Pump Inhibitors Phase 1,Not Applicable
43
Acyclovir Approved Not Applicable 59277-89-3 2022
44
Povidone-iodine Approved Not Applicable 25655-41-8
45
Becaplermin Approved, Investigational Not Applicable 165101-51-9
46
Interferon beta-1a Approved, Investigational 145258-61-3 6438354
47
tannic acid Approved Not Applicable 1401-55-4
48
Benzocaine Approved, Investigational Not Applicable 1994-09-7, 94-09-7 2337
49
Ibuprofen Approved Not Applicable 15687-27-1 3672
50
Codeine Approved, Illicit Not Applicable 76-57-3 5284371

Interventional clinical trials:

(show top 50) (show all 136)
# Name Status NCT ID Phase Drugs
1 the Efficacy and Safety of a Modified Microfracture Using Collagen Compared to Those of a Simple Microfracture in Ankle Unknown status NCT02519881 Phase 4
2 Efficacy of Intra-articular Collagen Injection in Patients With Knee Joint Pain Compared to Normal Saline Injection Unknown status NCT02539095 Phase 4
3 Comparison of Efficacy and Safety of Microfracture and Modified Microfracture Unknown status NCT02539030 Phase 4
4 Platelet-rich Plasma vs Viscosupplementation in the Treatment of Knee Articular Degenerative Pathology Completed NCT01670578 Phase 4
5 Smith & Nephew's European Trufit Study Completed NCT01246635 Phase 4
6 Use of Demineralised Bone Matrix (DBX) in Osteochondritis Dissecans (OCD) Withdrawn NCT01283737 Phase 4
7 Knee Articular Cartilage Repair: Cartilage Autograft Implantation System Versus Conventional Microfracture Unknown status NCT01498029 Phase 3
8 Efficacy and Safety of Chondron (Autologus Chondrocyte) in Patients With Cartilage Defects in Their Ankle Unknown status NCT02537067 Phase 3 CHONDRON
9 The Use of Autologous Bone Marrow Mesenchymal Stem Cells in the Treatment of Articular Cartilage Defects Unknown status NCT00891501 Phase 2, Phase 3
10 Effects of CHONDRON (Autologous Chondrocytes) With Ankle Cartilage Defect Completed NCT01050816 Phase 3
11 Superiority of MACI® Versus Microfracture Treatment in Patients With Symptomatic Articular Cartilage Defects in the Knee Completed NCT00719576 Phase 3
12 Follow-Up Study of CARTISTEM® Versus Microfracture for the Treatment of Knee Articular Cartilage Injury or Defect Completed NCT01626677 Phase 3
13 Efficacy and Safety of Ketoprofen Topical Patch 20% in the Treatment of Pain Associated With Ankle Sprain or Strain Completed NCT00351104 Phase 3 Ketoprofen Topical Patch 20%
14 Ketoprofen 10% Cream for Treatment of Pain Associated With Mild to Moderate Acute Soft Tissue Injury Completed NCT00765700 Phase 3 Topical Ketoprofen 10% Cream;Topical Placebo Cream
15 Ketoprofen Topical Patch 20% in the Treatment of Pain Associated With Shoulder, Elbow or Knee Tendonitis or Bursitis Completed NCT00352625 Phase 3 Ketoprofen Topical Patch 20%
16 A Randomized Controlled Trial Comparing Chondro-Gide® to Microfracture Alone for Treatment of Knee Cartilage Defects. Completed NCT02993510 Phase 3
17 A Study of MACI in Patients Aged 10 to 17 Years With Symptomatic Chondral or Osteochondral Defects of the Knee Recruiting NCT03588975 Phase 3
18 NOVOCART 3D Treatment Following Microfracture Failure Recruiting NCT03219307 Phase 3
19 Phase III Study to Evaluate Safety and Effectiveness of NOVOCART 3D Plus vs. Microfracture in Knee Cartilage Defects Active, not recruiting NCT01656902 Phase 3 NOVOCART® 3D plus
20 Neocartilage Implant to Treat Cartilage Lesions of the Knee Terminated NCT01400607 Phase 3
21 Confirmatory Study of NeoCart in Knee Cartilage Repair Terminated NCT01066702 Phase 3
22 Efficacy and Safety of Ketoprofen Topical Patch 20% in the Treatment of Pain Associated With Shoulder, Elbow or Knee Tendonitis or Bursitis Terminated NCT00426985 Phase 3 Ketoprofen Topical Patch 20%
23 Safety and Efficacy Study of Cells Sheet-Autologous Chondrocyte Implantation to Treat Articular Cartilage Defects Unknown status NCT01694823 Phase 1, Phase 2 CS-ACI
24 Platelet Rich Plasma Injection for Knee Pain Completed NCT01747018 Phase 1, Phase 2
25 Mesenchymal Stem Cells in Knee Cartilage Injuries Completed NCT02118519 Phase 2
26 Effect of Autologous Peripheral Blood Stem Cell Treatment on Articular Cartilage Regeneration Completed NCT01076673 Phase 2 Hyaluronic Acid
27 Study to Prevent Cartilage Damage Following Acute Knee Injury. Completed NCT00332254 Phase 1, Phase 2 Anakinra
28 Evaluation of Safety and Exploratory Efficacy of CARTISTEM®, a Cell Therapy Product for Articular Cartilage Defects Completed NCT01733186 Phase 1, Phase 2
29 Adult Stem Cell Therapy for Repairing Articular Cartilage in Gonarthrosis Completed NCT01227694 Phase 1, Phase 2
30 Efficacy and Safety Study of Intra-Articular Injections of Autologous Peripheral Blood Stem Cells Following Subchondral Drilling Surgery for the Treatment of Articular Cartilage Injury in the Knee Recruiting NCT03101163 Phase 2
31 Study to Evaluate the Safety and Tolerability of Avelumab in Combination With Other Anti-Cancer Therapies in Patients With Advanced Malignancies Recruiting NCT03217747 Phase 1, Phase 2 Avelumab;Utomilumab;PF-04518600;Cisplatin
32 Clinical Trial to Compare ReJoinTM to Sodium Hyaluronate Injection for Knee Osteoarthritis Cartilage Defects Active, not recruiting NCT02855073 Phase 2 Sodium Hyaluronate
33 Tocilizumab for Relapsing Polychondritis Withdrawn NCT01104480 Phase 2 Tocilizumab
34 Mesenchymal Stem Cells in a Clinical Trial to Heal Articular Cartilage Defects Unknown status NCT00885729 Phase 1
35 Human Umbilical Cord Mesenchymal Stem Cell Transplantation in Articular Cartilage Defect Completed NCT02291926 Phase 1
36 Tissue Engineered Nasal Cartilage for Reconstruction of the Alar Lobule Completed NCT01242618 Phase 1
37 Autologous Transplantation of Mesenchymal Stem Cells (MSCs) and Scaffold in Full-thickness Articular Cartilage Completed NCT00850187 Phase 1
38 Study on the Safety of Abatacept in Relapsing Polychondritis Completed NCT01272856 Phase 1 Abatacept
39 Study of Adoptive Immunotherapy Using Autologous CD8+ NY-ESO-1-Specific T Cells and the NY-ESO-1 Immunostimulatory Agents LV305 or CMB305 For Patients With Sarcoma Recruiting NCT03450122 Phase 1 Cyclophosphamide;Immunotherapeutic Combination Product CMB305
40 IACS-010759 in Advanced Cancers Recruiting NCT03291938 Phase 1 IACS-010759
41 Study of Aerosol Gemcitabine in Patients With Solid Tumors and Pulmonary Metastases Recruiting NCT03093909 Phase 1 Gemcitabine
42 A Study to Assess the Safety, Tolerability and Potential Efficacy of a Tracheal Replacement Consisting of a Tissue-engineered Tracheal Scaffold With Seeded Mesenchymal Cells Suspended NCT02949414 Phase 1
43 Lenvatinib and Capecitabine in Patients With Advanced Malignancies Withdrawn NCT02915172 Phase 1 Lenvatinib;Capecitabine
44 Laryngomalacia Study Withdrawn NCT01782560 Phase 1 Omeprazole;Placebo
45 Autologous Cell-derived Tissue Engineered Cartilage for Repairing Articular Cartilage Lesions Unknown status NCT02770209 Not Applicable
46 Prevalence of Chondromalacia Patella Among Adolescent Dancers - Correlation Between Symptoms and Sonography Findings Unknown status NCT02606942
47 Investigation of a Customized Femoral Resurfacing Implant Unknown status NCT01690689 Not Applicable
48 Evaluation of the Agili-C Biphasic Implant in the Knee Joint Unknown status NCT01471236 Not Applicable
49 the Safety and Efficacy Evaluation of Chondron Compared With Mircrofracture of Knee Unknown status NCT02524509
50 A Study to Compare Two Techniques for Articular Cartilage Repair:ACIC Vs. MCIC Unknown status NCT01984450 Not Applicable

Search NIH Clinical Center for Cartilage Disease

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Cartilage Disease cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: cartilage diseases

Genetic Tests for Cartilage Disease

Anatomical Context for Cartilage Disease

MalaCards organs/tissues related to Cartilage Disease:

42
Bone, Skin, T Cells, Bone Marrow, Lung, Heart, Prostate

Publications for Cartilage Disease

Articles related to Cartilage Disease:

(show all 34)
# Title Authors Year
1
Role of Epigenomics in Bone and Cartilage Disease. ( 30715766 )
2019
2
A novel therapeutic strategy for cartilage diseases based on lipid nanoparticle-RNAi delivery system. ( 29440889 )
2018
3
Cartilage diseases. ( 29803938 )
2018
4
Stem Cells in Cartilage Diseases and Repair 2018. ( 30140290 )
2018
5
Different Forms of ER Stress in Chondrocytes Result in Short Stature Disorders and Degenerative Cartilage Diseases: New Insights by Cartilage-Specific ERp57 Knockout Mice. ( 30647818 )
2018
6
Review: Interventions for Cartilage Disease: Current State-of-the-Art and Emerging Technologies. ( 28294573 )
2017
7
PRP for Degenerative Cartilage Disease: A Systematic Review of Clinical Studies. ( 28317389 )
2017
8
Nonoperative Options for Management of Articular Cartilage Disease. ( 28577705 )
2017
9
The cytokinome in osteoarthritis, a new paradigm in diagnosis and prognosis of cartilage disease. ( 28002903 )
2016
10
Epigenetics of cartilage diseases. ( 26723856 )
2016
11
Runx2 and microRNA regulation in bone and cartilage diseases. ( 27526290 )
2016
12
Ensemble multivariate analysis to improve identification of articular cartilage disease in noisy Raman spectra. ( 25264131 )
2015
13
Biological knee reconstruction for combined malalignment, meniscal deficiency, and articular cartilage disease. ( 25442661 )
2015
14
Acoustic emission diagnosis for human joint cartilage diseases. ( 26899013 )
2015
15
Clinical use of bone marrow, bone marrow concentrate, and expanded bone marrow mesenchymal stem cells in cartilage disease. ( 23030230 )
2013
16
Autologous bone marrow concentrate: review and application of a novel intra-articular orthobiologic for cartilage disease. ( 24113698 )
2013
17
Is cartilage sGAG content related to early changes in cartilage disease? Implications for interpretation of dGEMRIC. ( 22334095 )
2012
18
Don't hedge your bets: hedgehog signaling as a central mediator of endochondral bone development and cartilage diseases. ( 21308758 )
2011
19
The role of physical forces in the management of bone and cartilage diseases and bone consolidation. ( 21970922 )
2011
20
Arthroscopy vs. MRI for a detailed assessment of cartilage disease in osteoarthritis: diagnostic value of MRI in clinical practice. ( 20406481 )
2010
21
Detection of degenerative cartilage disease: comparison of high-resolution morphological MR and quantitative T2 mapping at 3.0 Tesla. ( 20633680 )
2010
22
Yet more evidence that osteoarthritis is not a cartilage disease. ( 16973787 )
2006
23
Update on the biology of the chondrocyte and new approaches to treating cartilage diseases. ( 16980220 )
2006
24
Neonatal retroviral vector-mediated hepatic gene therapy reduces bone, joint, and cartilage disease in mucopolysaccharidosis VII mice and dogs. ( 15110316 )
2004
25
Fabrication and characterization of nonplanar microelectrode array circuits for use in arthroscopic diagnosis of cartilage diseases. ( 15605864 )
2004
26
The molecular genetics of inherited cartilage disease. ( 11680678 )
2001
27
The pathophysiology of cartilage diseases. ( 17986978 )
2001
28
Subchondral bone and cartilage disease: a rediscovered functional unit. ( 11041152 )
2000
29
Magnetic resonance imaging of articular cartilage and evaluation of cartilage disease. ( 11041154 )
2000
30
MRI techniques in early stages of cartilage disease. ( 11041156 )
2000
31
New genetic treatment for bone and cartilage disease. ( 7657001 )
1995
32
Type II collagen mutations in rare and common cartilage diseases. ( 8024727 )
1994
33
The control of expression of type II collagen: relevance to cartilage disease. ( 1567552 )
1992
34
Delayed formation of proteoglycan aggregate structures in human articular cartilage disease states. ( 7442801 )
1980

Variations for Cartilage Disease

Expression for Cartilage Disease

Search GEO for disease gene expression data for Cartilage Disease.

Pathways for Cartilage Disease

GO Terms for Cartilage Disease

Cellular components related to Cartilage Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.8 ACAN COL10A1 COL2A1 COMP CRP IL1RN
2 extracellular matrix GO:0031012 9.46 ACAN COL10A1 COL2A1 COMP
3 collagen-containing extracellular matrix GO:0062023 9.26 ACAN COL10A1 COL2A1 COMP
4 extracellular space GO:0005615 9.17 COL10A1 COL2A1 COMP CRP IL1RN KRT86

Biological processes related to Cartilage Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.4 COL2A1 TNF
2 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.37 TNF TNFRSF10A
3 cartilage condensation GO:0001502 9.32 ACAN COL2A1
4 negative regulation of lipid storage GO:0010888 9.26 CRP TNF
5 skeletal system development GO:0001501 9.26 ACAN COL10A1 COL2A1 COMP
6 positive regulation of JUN kinase activity GO:0043507 9.13 TNF
7 extracellular matrix organization GO:0030198 9.02 ACAN COL10A1 COL2A1 COMP TNF
8 chronic inflammatory response to antigenic stimulus GO:0002439 8.85 TNF

Molecular functions related to Cartilage Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.16 COL10A1 COL2A1
2 protease binding GO:0002020 9.13 COMP TNF TNFRSF10A
3 extracellular matrix structural constituent GO:0005201 8.92 ACAN COL10A1 COL2A1 COMP

Sources for Cartilage Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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