MCID: RLP001
MIFTS: 54

Relapsing Polychondritis

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Immune diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Relapsing Polychondritis

MalaCards integrated aliases for Relapsing Polychondritis:

Name: Relapsing Polychondritis 11 19 58 14 16 75 31 33
Polychondritis, Relapsing 43 71
Polychondropathia 19 58
Chronic Atrophic Polychondritis 19
Chondromalacia, Systemic 11
Recurrent Polychondritis 19
Polychondritis Relapsing 53

Characteristics:


Prevelance:

1-9/1000000 (United States, Worldwide, United Kingdom) <1/1000000 (United Kingdom) 58

Age Of Onset:

All ages 58

Age Of Death:

any age 58

Classifications:

Orphanet: 58  
Rare eye diseases
Rare renal diseases
Rare systemic and rhumatological diseases


Summaries for Relapsing Polychondritis

GARD: 19 Relapsing polychondritis (RP) is characterized by recurrent swelling and inflammation of cartilage and other tissues throughout the body. Cartilage is a tough but flexible tissue that covers the ends of bones at a joint and gives shape and support to other parts of the body. Other parts of the body that may be involved are the airways (trachea), costal (rib) cartilage, eyes, heart, vascular (veins) system, skin, kidney, and nervous system. The signs and symptoms vary from person to person depending on which parts of the body are affected. The exact underlying cause of RP is unknown. There are thought to be genetic and other unknown factors involved. RP often occurs along with autoimmune conditions. Diagnosis is based on the symptoms and clinical examination. Other more common conditions may need to be excluded before RP can be diagnosed.

MalaCards based summary: Relapsing Polychondritis, also known as polychondritis, relapsing, is related to neutrophilic dermatosis, acute febrile and laryngostenosis. An important gene associated with Relapsing Polychondritis is MATN1 (Matrilin 1), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs Aldesleukin and Rituximab have been mentioned in the context of this disorder. Affiliated tissues include eye, trachea and heart, and related phenotypes are cataract and arthritis

Orphanet: 58 A rare, clinically heterogeneous, multisystemic inflammatory disease characterized by inflammation of the cartilage and proteoglycan rich structures leading to cartilage damage along with joint, ocular and cardiovascular involvement.

Disease Ontology: 11 A chondromalacia that is characterized by recurrent inflammation of cartilage and other tissues throughout the body.

Wikipedia: 75 Relapsing polychondritis is a multi-systemic condition characterized by repeated episodes of... more...

Related Diseases for Relapsing Polychondritis

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

(show top 50) (show all 967)
# Related Disease Score Top Affiliating Genes
1 neutrophilic dermatosis, acute febrile 30.7 UBA1 TNF MPO CRP
2 laryngostenosis 30.7 PRTN3 MPO
3 conjunctivitis 30.5 TNF MPO IL6 IFNG
4 scleritis 30.5 TNF PRTN3 MPO IFNG CRP
5 keratitis, hereditary 30.5 TNF IL6 CD4
6 myelodysplastic syndrome 30.5 TNFRSF10A TNF MPO IL6 CD4
7 meningoencephalitis 30.5 TNF IL6 CRP CD4
8 arthropathy 30.5 TNF IL6 CRP COMP COL2A1
9 glomerulonephritis 30.4 TNF PRTN3 MPO IL6 CRP
10 uveitis 30.4 TNF IL6 IFNG HLA-DRB1
11 cartilage disease 30.3 UBA1 TNF MATN1 IL6 CRP COMP
12 aseptic meningitis 30.3 TNF IL6 CRP CD4
13 epididymo-orchitis 30.3 IL6 CRP
14 neuritis 30.3 TNF IL6 IFNG
15 lateral medullary syndrome 30.3 PRTN3 CRP
16 erythema elevatum diutinum 30.3 PRTN3 MPO CRP
17 reactive arthritis 30.3 TNF PRTN3 CRP COMP
18 osteoarthritis 30.3 TNF MATN1 IL6 CRP COMP COL2A1
19 vasculitis 30.3 UBA1 TNF PRTN3 MPO IL6 HLA-DRB1
20 microscopic polyangiitis 30.2 PRTN3 MPO HLA-DRB1
21 igg4-related disease 30.2 PRTN3 MPO CRP CD4
22 spondyloarthropathy 1 30.2 TNF PRTN3 IL6 CRP CD4
23 cellulitis 30.2 TNF IL6 CRP CD4
24 proliferative glomerulonephritis 30.2 PRTN3 MPO IFNG
25 otitis externa 30.2 IL6 CRP CD4
26 erysipelas 30.2 TNF IL6 CRP
27 pustular psoriasis 30.2 TNF IFNG
28 apnea, obstructive sleep 30.1 TNF IL6 CRP
29 aortic aneurysm, familial abdominal, 1 30.1 TNF IL6 CRP
30 anemia, autoimmune hemolytic 30.1 IL6 CRP CD4
31 hypopyon 30.1 TNF IL6 CRP CD4
32 familial mediterranean fever 30.1 TNF IL6 CRP
33 orbital disease 30.1 PRTN3 MPO CRP CD4
34 fibromyalgia 30.1 TNF IL6 CRP
35 panniculitis 30.1 IFNG CRP CD4
36 labyrinthitis 30.1 TNF CRP
37 cogan syndrome 30.1 TNF PRTN3 CRP
38 splenic abscess 30.1 CRP CD4
39 iritis 30.0 TNF IL6 CRP CD4
40 erythema nodosum 30.0 TNF IL6 IFNG CRP
41 meningitis 30.0 TNF MPO IL6 IFNG CRP
42 orbital cellulitis 30.0 PRTN3 IL6 CRP CD4
43 adult respiratory distress syndrome 30.0 TNF MPO IL6 CRP
44 membranoproliferative glomerulonephritis 30.0 PRTN3 MPO CRP
45 aortic atherosclerosis 30.0 TNF IL6 CRP
46 spondylosis 29.9 TNF IL6 CRP
47 pericarditis 29.9 TNF IL6 IFNG CRP
48 orchitis 29.9 TNF IL6 CRP CD4
49 erythema multiforme 29.9 TNF IL6 IFNG
50 crescentic glomerulonephritis 29.9 TNF PRTN3 MPO CRP CD4

Graphical network of the top 20 diseases related to Relapsing Polychondritis:



Diseases related to Relapsing Polychondritis

Symptoms & Phenotypes for Relapsing Polychondritis

Human phenotypes related to Relapsing Polychondritis:

58 30 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000518
2 arthritis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001369
3 large vessel vasculitis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005310
4 chondritis of pinna 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0200047
5 abnormal aortic valve morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0001646
6 dyspnea 58 30 Frequent (33%) Frequent (79-30%)
HP:0002094
7 vertigo 58 30 Frequent (33%) Frequent (79-30%)
HP:0002321
8 atelectasis 58 30 Frequent (33%) Frequent (79-30%)
HP:0100750
9 cough 58 30 Frequent (33%) Frequent (79-30%)
HP:0012735
10 pericarditis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001701
11 limitation of joint mobility 58 30 Frequent (33%) Frequent (79-30%)
HP:0001376
12 sensorineural hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000407
13 proteinuria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000093
14 renal insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000083
15 cranial nerve paralysis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006824
16 biparietal narrowing 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004422
17 hepatitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012115
18 alopecia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001596
19 hematuria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000790
20 arthralgia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002829
21 glomerulopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100820
22 laryngomalacia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001601
23 uveitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000554
24 purpura 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000979
25 erythema 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010783
26 macule 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012733
27 myocarditis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012819
28 conjunctivitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000509
29 keratitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000491
30 anteriorly placed anus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001545
31 gangrene 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100758
32 thrombophlebitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004418
33 episcleritis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100534
34 recurrent aphthous stomatitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011107
35 scleritis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100532
36 vascular dilatation 30 Occasional (7.5%) HP:0002617
37 abnormal endocardium morphology 30 Occasional (7.5%) HP:0004306
38 venous thrombosis 58 Occasional (29-5%)
39 abnormality of the endocardium 58 Occasional (29-5%)
40 inflammatory abnormality of the eye 58 Occasional (29-5%)
41 dilatation 58 Occasional (29-5%)
42 abnormal pattern of respiration 58 Occasional (29-5%)
43 chondritis 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Relapsing Polychondritis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.4 CD4 COL2A1 COMP CRP HLA-DQA1 IFNG

Drugs & Therapeutics for Relapsing Polychondritis

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

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aldesleukin Approved Phase 2 110942-02-4
2
Rituximab Approved Phase 2 174722-31-7
3
Infliximab Approved Phase 2 170277-31-3
4 Interleukin-2 Phase 2
5 Anti-HIV Agents Phase 2
6 Antiviral Agents Phase 2
7 Anti-Infective Agents Phase 2
8 Anti-Retroviral Agents Phase 2
9 Analgesics, Non-Narcotic Phase 2
10 Analgesics Phase 2
11 Antirheumatic Agents Phase 2
12 Immunologic Factors Phase 2
13 Antineoplastic Agents, Immunological Phase 2
14 Dermatologic Agents Phase 2
15 Gastrointestinal Agents Phase 2
16
Abatacept Approved Phase 1 332348-12-6
17 Immunosuppressive Agents Phase 1
18 Immune Checkpoint Inhibitors Phase 1
19 Antibodies
20 Immunoglobulins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Pilot Study of Low Dose IL-2 in the Treatment of Relapsing Polychondritis Unknown status NCT04077736 Phase 2 Interleukin-2
2 Biologics in Refractory Vasculitis (BIOVAS): A Pragmatic, Randomised, Double-blind, Placebo-controlled, Modified-crossover Trial of Biologic Therapy for Refractory Primary Non-ANCA Associated Vasculitis in Adults and Children Recruiting NCT05168475 Phase 2
3 Efficacy of Tocilizumab in a Patient With Relapsing Polychondritis Withdrawn NCT01104480 Phase 2 Tocilizumab
4 An Open-Label, Single-Center, Phase I Study on the Safety of Abatacept in Relapsing Polychondritis Completed NCT01272856 Phase 1 Abatacept
5 Physical Training in Patients With Relapsing Polychondritis Completed NCT03092141
6 Efficacy of Tocilizumab in a Patient With Relapsing Polychondritis Completed NCT01041248 Tocilizumab
7 Longitudinal Study for Relapsing Polychondritis Recruiting NCT04919538
8 Studies of the Natural History, Pathogenesis, and Outcome of Idiopathic Systemic Vasculitis Recruiting NCT02257866

Search NIH Clinical Center for Relapsing Polychondritis

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Dapsone

Cochrane evidence based reviews: polychondritis, relapsing

Genetic Tests for Relapsing Polychondritis

Anatomical Context for Relapsing Polychondritis

Organs/tissues related to Relapsing Polychondritis:

MalaCards : Eye, Trachea, Heart, Kidney, Bone, Skin, Bone Marrow

Publications for Relapsing Polychondritis

Articles related to Relapsing Polychondritis:

(show top 50) (show all 1561)
# Title Authors PMID Year
1
Relapsing polychondritis, induced in mice with matrilin 1, is an antibody- and complement-dependent disease. 53 62
14982849 2004
2
Cartilage-specific autoimmunity in animal models and clinical aspects in patients - focus on relapsing polychondritis. 53 62
12223103 2002
3
The occurrence of autoantibodies to matrilin 1 reflects a tissue-specific response to cartilage of the respiratory tract in patients with relapsing polychondritis. 53 62
11665983 2001
4
Autoreactivity against matrilin-1 in a patient with relapsing polychondritis. 53 62
10765942 2000
5
Serum concentrations of two cartilage matrix proteins reflecting different aspects of cartilage turnover in relapsing polychondritis. 53 62
7848324 1995
6
Autoantibodies to cartilage collagens in relapsing polychondritis. 53 62
8379684 1993
7
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS syndrome) with prominent supraglottic larynx involvement: a case-based review. 62
35986821 2022
8
A "Leopard Man" Aspect on 18F-FDG PET/CT Revealing a VEXAS Syndrome. 62
36252945 2022
9
Acute heart failure due to left common iliac arteriovenous fistula: A case of VEXAS syndrome. 62
36264203 2022
10
Relapsing polychondritis with multiple neurologic manifestations. 62
35511334 2022
11
Dapsone-induced methaemoglobinaemia in relapsing polychondritis. 62
36109093 2022
12
Lung Cancer Complicated by Relapsing Polychondritis. 62
36070940 2022
13
Relapsing Polychondritis as a Cause of Sudden and Unexpected Death With Central Nervous System Involvement. 62
35642781 2022
14
Auricular leishmaniasis in a child successfully treated with intralesional amphotericin B. 62
35689474 2022
15
A CDC42 Stop-loss Mutation in a Patient with Relapsing Polychondritis and Autoinflammation. 62
36040659 2022
16
Relapsing polychondritis causing breathlessness: Two case reports. 62
36159534 2022
17
Clinical Images: Unilateral Jaccoud's arthropathy in a patient with relapsing polychondritis. 62
35297545 2022
18
A case of relapsing polychondritis localized to the laryngeal cartilage in which FDG-PET/CT was helpful for diagnosis. 62
35946909 2022
19
Physician Global Assessment as a Disease Activity Measure for Relapsing Polychondritis. 62
33544969 2022
20
Reduced peripheral blood dendritic cell and monocyte subsets in MDS patients with systemic inflammatory or dysimmune diseases. 62
35953763 2022
21
A Rare Case of Ankylosing Spondylitis Coexisting with Relapsing Polychondritis, Antiphospholipid Syndrome, and Myelodysplastic Syndrome. 62
35022354 2022
22
Comparison between idiopathic and VEXAS-relapsing polychondritis: analysis of a French case series of 95 patients. 62
35868738 2022
23
Relapsing polychondritis with isolated tracheobronchial involvement complicated with Sjogren's syndrome: A case report. 62
35979285 2022
24
B-cell lymphoma mimicking relapsing polychondritis. 62
35594183 2022
25
Relapsing polychondritis. 62
35490946 2022
26
Relapsing Polychondritis and Aseptic Meningoencephalitis. 62
35831110 2022
27
Embryonal Rhabdomyosarcoma: The Diagnostic Dilemma of a Rare Laryngeal Malignancy. 62
35989800 2022
28
Tocilizumab in Recalcitrant Bilateral Scleritis in a Case of Relapsing Polychondritis: A 17-year Follow Up. 62
35695904 2022
29
Sequential Involvement of Oculomotor Nerve and Optic Nerve Sheath in Relapsing Polychondritis. 62
34348364 2022
30
Comparison of relapsing polychondritis patients with and without respiratory involvement based on chest computed tomography: a retrospective cohort study. 62
35676691 2022
31
Co-occurrence of relapsing polychondritis and autoimmune thyroid diseases. 62
35534869 2022
32
Association of common variable immunodeficiency and rare and complex connective tissue and musculoskeletal diseases. A systematic literature review. 62
35349404 2022
33
Rare within rare. Necrotising scleritis and peripheral ulcerative keratitis: eye-threatening complications of relapsing polychondritis. 62
35238768 2022
34
[Recommendations of diagnosis and treatment of relapsing polychondritis in China]. 62
35488602 2022
35
Reply Letter - Methylprednisolone pulse therapy for relapsing polychondritis (RP) combined with heart block: myth or reality? 62
35587055 2022
36
Risk factors for the recurrence of relapsing polychondritis. 62
35637525 2022
37
Discordance in patient and physician global assessment in relapsing polychondritis. 62
34559216 2022
38
Treatment of relapsing polychondritis: a systematic review. 62
35238756 2022
39
Biologic therapy in relapsing polychondritis: navigating between options. 62
35230215 2022
40
Hidradenitis suppurativa and relapsing polychondritis: An uncommon association. 62
35092648 2022
41
Relapsing polychondritis after treatment with PD-1 blockade. 62
34562229 2022
42
Case Report: An Isolated Abducens Palsy Secondary to Lyme Disease. 62
35001068 2022
43
Relapsing Polychondritis in a Patient with Ankylosing Spondylitis under Two Different Tumor Necrosis Factor Alpha Inhibitors Treatment. 62
35385029 2022
44
Curcumin ameliorates H2O2-induced inflammatory response in chondrocytes by inducing autophagy activation. 62
35251338 2022
45
VEXAS syndrome: relapsing polychondritis and myelodysplastic syndrome with associated immunoglobulin A vasculitis. 62
34668539 2022
46
A man in his sixties with chondritis and bone marrow failure. 62
35239266 2022
47
Methylprednisolone pulse therapy for relapsing polychondritis (RP) combined with heart block: myth or reality? 62
35363323 2022
48
Kimura's disease presenting as a posterior mediastinal mass complicated with relapsing polychondritis. 62
34664627 2022
49
Efficacy of tocilizumab for refractory relapsing polychondritis with tracheal stenosis and respiratory distress. 62
33989404 2022
50
Relapsing Polychondritis Associated with Miscellaneous Ocular Symptoms and Increased IgA: a Case Report. 62
35293351 2022

Variations for Relapsing Polychondritis

Expression for Relapsing Polychondritis

Search GEO for disease gene expression data for Relapsing Polychondritis.

Pathways for Relapsing Polychondritis

Pathways related to Relapsing Polychondritis according to GeneCards Suite gene sharing:

(show all 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 CD4 COL2A1 CRP HLA-DQA1 HLA-DRB1 IFNG
2
Show member pathways
13.16 TNF PRTN3 IL6 IFNG HLA-DRB1 HLA-DQA1
3
Show member pathways
12.44 CD4 IFNG IL6 MPO TNF
4
Show member pathways
12.05 HLA-DRB1 HLA-DQA1 CD4
5
Show member pathways
12.03 TNF IFNG HLA-DRB1 CD4
6 11.86 TNF IL6 IFNG COL2A1
7
Show member pathways
11.78 TNF IL6 IFNG CD4
8
Show member pathways
11.76 IL6 IFNG CD4
9 11.73 TNF IFNG HLA-DRB1 HLA-DQA1
10 11.7 TNF IFNG CD4
11 11.7 PRTN3 MPO CD4
12
Show member pathways
11.68 HLA-DRB1 HLA-DQA1 CD4
13 11.66 IL6 IFNG CD4
14 11.61 IL6 IFNG CD4
15
Show member pathways
11.57 IFNG IL6 TNF
16
Show member pathways
11.56 IL6 HLA-DRB1 CRP CD4
17
Show member pathways
11.53 TNF IL6 IFNG
18 11.49 TNF IL6 IFNG CD4
19 11.45 TNF IL6 IFNG
20 11.42 TNF MPO IL6 IFNG CD4
21 11.41 TNF IL6 IFNG CRP
22 11.39 TNF IL6 IFNG
23 11.21 TNF IL6 IFNG
24 11.16 TNF IFNG HLA-DRB1 HLA-DQA1 CD4
25 10.89 TNF IL6 CRP
26 10.85 TNF MPO
27 10.81 IFNG CD4
28 10.48 TNF IL6 IFNG HLA-DRB1 CD4
29
Show member pathways
10.27 TNF IL6

GO Terms for Relapsing Polychondritis

Cellular components related to Relapsing Polychondritis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.58 TNF PRTN3 MPO IL6 IFNG HLA-DRB1

Biological processes related to Relapsing Polychondritis according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of MAPK cascade GO:0043410 10.11 CD4 HLA-DRB1 IL6 TNF
2 positive regulation of interleukin-1 beta production GO:0032731 10.03 TNF IL6 IFNG
3 immune response GO:0006955 10.02 TNF IL6 IFNG HLA-DRB1 HLA-DQA1 CD4
4 extrinsic apoptotic signaling pathway GO:0097191 10 TNFRSF10A TNF IFNG
5 regulation of insulin secretion GO:0050796 9.97 TNF IL6 IFNG
6 positive regulation of chemokine production GO:0032722 9.95 TNF IL6 IFNG
7 positive regulation of T cell activation GO:0050870 9.93 CD4 HLA-DQA1 HLA-DRB1
8 vascular endothelial growth factor production GO:0010573 9.84 TNF IL6
9 macrophage differentiation GO:0030225 9.8 CD4 HLA-DRB1 IFNG
10 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.73 TNF IFNG
11 positive regulation of nitrogen compound metabolic process GO:0051173 9.71 TNF IFNG
12 immunoglobulin production involved in immunoglobulin-mediated immune response GO:0002381 9.57 HLA-DRB1 HLA-DQA1
13 response to gold nanoparticle GO:1990268 9.56 TNF MPO
14 humoral immune response GO:0006959 9.56 TNF IL6 IFNG HLA-DRB1
15 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.55 HLA-DRB1 HLA-DQA1
16 positive regulation of vitamin D biosynthetic process GO:0060557 9.46 TNF IFNG
17 negative regulation of lipid storage GO:0010888 9.1 TNF IL6 CRP

Molecular functions related to Relapsing Polychondritis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.56 MATN1 COMP COL2A1 CD4
2 MHC class II protein binding GO:0042289 9.46 COL2A1 CD4
3 MHC class II protein complex binding GO:0023026 9.1 HLA-DRB1 HLA-DQA1 CD4

Sources for Relapsing Polychondritis

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 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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