AIADK
MCID: ATN014
MIFTS: 43

Autoinflammation with Arthritis and Dyskeratosis (AIADK)

Categories: Genetic diseases, Skin diseases

Aliases & Classifications for Autoinflammation with Arthritis and Dyskeratosis

MalaCards integrated aliases for Autoinflammation with Arthritis and Dyskeratosis:

Name: Autoinflammation with Arthritis and Dyskeratosis 58 76 6
Hereditary Autoinflammatory Diseases 45 74
Aiadk 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable features present
based on report of 2 double first cousins and 1 unrelated sporadic heterozygote (patient a)


HPO:

33
autoinflammation with arthritis and dyskeratosis:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Autoinflammation with Arthritis and Dyskeratosis

OMIM : 58 Autoinflammation with arthritis and dyskeratosis is characterized by recurrent fever, widespread skin dyskeratosis, arthritis, elevated biologic markers of inflammation, and mild autoimmunity with a high transitional B-cell level (summary by Grandemange et al., 2016). (617388)

MalaCards based summary : Autoinflammation with Arthritis and Dyskeratosis, also known as hereditary autoinflammatory diseases, is related to arthritis and familial mediterranean fever. An important gene associated with Autoinflammation with Arthritis and Dyskeratosis is NLRP1 (NLR Family Pyrin Domain Containing 1), and among its related pathways/superpathways are Toll-like Receptor Signaling Pathway and RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways. The drugs Prednisolone phosphate and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include skin, b cells and thyroid, and related phenotypes are failure to thrive and splenomegaly

UniProtKB/Swiss-Prot : 76 Autoinflammation with arthritis and dyskeratosis: A disorder characterized by recurrent fever, diffuse skin dyskeratosis, autoinflammation, autoimmunity, arthritis and high transitional B-cell level. Inheritance can be autosomal dominant or autosomal recessive.

Related Diseases for Autoinflammation with Arthritis and Dyskeratosis

Diseases related to Autoinflammation with Arthritis and Dyskeratosis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 arthritis 30.0 IL18 NLRP1
2 familial mediterranean fever 11.2
3 progressive familial heart block, type ia 10.2
4 left bundle branch hemiblock 10.2
5 alcoholic gastritis 9.7 CASP1 IL18
6 familial cold autoinflammatory syndrome 9.7 CASP1 IL18
7 salmonellosis 9.6 CASP1 IL18
8 bacterial infectious disease 9.5 CASP1 IL18

Graphical network of the top 20 diseases related to Autoinflammation with Arthritis and Dyskeratosis:



Diseases related to Autoinflammation with Arthritis and Dyskeratosis

Symptoms & Phenotypes for Autoinflammation with Arthritis and Dyskeratosis

Human phenotypes related to Autoinflammation with Arthritis and Dyskeratosis:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 HP:0001508
2 splenomegaly 33 HP:0001744
3 photophobia 33 HP:0000613
4 hyperkeratosis 33 HP:0000962
5 dry skin 33 HP:0000958
6 growth delay 33 HP:0001510
7 thyroiditis 33 HP:0100646
8 keratoconjunctivitis sicca 33 HP:0001097
9 corneal neovascularization 33 HP:0011496
10 uveitis 33 HP:0000554
11 autoimmune hemolytic anemia 33 HP:0001890
12 epidermal acanthosis 33 HP:0025092
13 antinuclear antibody positivity 33 HP:0003493
14 increased iga level 33 HP:0003261
15 polyarticular arthritis 33 HP:0005764
16 punctate keratitis 33 HP:0011859

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive
growth retardation, moderate

Skin Nails Hair Skin Histology:
hyperkeratosis
acanthosis
prominent granular cell layer
mild papillomatosis
dyskeratotic eosinophilic cells throughout all layers
more
Skin Nails Hair Skin:
xerosis
impaired sweating
widespread follicular hyperkeratosis
filiform hyperkeratosis
brownish-purple pigmented macules in areas of hyperkeratosis
more
Head And Neck Neck:
thyroiditis (patient a)

Respiratory Airways:
subglottic edema (patient a)

Abdomen Spleen:
splenomegaly (requiring splenectomy, patient a)

Skeletal Hands:
arthritis of the hands

Skin Nails Hair Hair:
hair casts

Hematology:
hemolytic anemia, autoimmune (patient a)

Head And Neck Eyes:
photophobia
corneal neovascularization
uveitis
punctate keratitis
corneal dyskeratosis
more
Immunology:
antinuclear antibodies
elevated iga
hypereosinophilia
elevated ige
chronic candidiasis (patient a)
more
Laboratory Abnormalities:
hypereosinophilia
persistently elevated c-reactive protein (crp)
reduced levels of vitamin a
reduced levels of retinal-binding protein
reduced levels of vitamin c

Respiratory Larynx:
verrucous lesions on vocal cords

Abdomen Liver:
massive hepatomegaly (patient a)

Skeletal Limbs:
polyarticular arthritis (involving wrists, knees, and ankles)
bilateral medial metaphyseal lesions in femora
abnormal striations of distal femoral metaphyses
dense and irregular condensations in metaphyseal plates of distal femur and proximal tibia

Skin Nails Hair Nails:
dyskeratotic nails

Metabolic Features:
recurrent episodes of fever

Clinical features from OMIM:

617388

GenomeRNAi Phenotypes related to Autoinflammation with Arthritis and Dyskeratosis according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.4 CASP1 IL18 NLRP1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.4 CASP1 IL18 NLRP1

Drugs & Therapeutics for Autoinflammation with Arthritis and Dyskeratosis

Drugs for Autoinflammation with Arthritis and Dyskeratosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 98)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 302-25-0
2
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 50-24-8 5755
3
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 83-43-2 6741
4
Methylprednisolone hemisuccinate Approved Phase 4,Phase 3,Phase 2,Not Applicable 2921-57-5
5
Fluocinolone Acetonide Approved, Investigational, Vet_approved Phase 4 67-73-2 6215
6
Colchicine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 64-86-8 6167 2833
7
Ginseng Approved, Investigational, Nutraceutical Phase 4 50647-08-0
8
Prednisolone hemisuccinate Experimental Phase 4,Phase 3,Phase 2,Not Applicable 2920-86-7
9 Prednisolone acetate Phase 4,Phase 3,Phase 2,Not Applicable
10 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Not Applicable
11 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Not Applicable
12 Hormones Phase 4,Not Applicable
13 Autonomic Agents Phase 4,Not Applicable
14 Antineoplastic Agents, Hormonal Phase 4,Not Applicable
15 Hormone Antagonists Phase 4,Not Applicable
16 Antiemetics Phase 4,Not Applicable
17 Methylprednisolone Acetate Phase 4,Phase 3,Phase 2,Not Applicable
18 Neuroprotective Agents Phase 4,Not Applicable
19 Gastrointestinal Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
20 glucocorticoids Phase 4,Not Applicable
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Not Applicable
22 Protective Agents Phase 4,Phase 2,Not Applicable
23 Antimitotic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
24 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
25 Pharmaceutical Solutions Phase 4,Phase 3,Phase 1
26
Infliximab Approved Phase 3,Phase 1,Phase 2 170277-31-3
27
Adalimumab Approved Phase 3 331731-18-1 16219006
28
Rilonacept Approved, Investigational Phase 3,Phase 2 501081-76-1 104924
29
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
30
Apremilast Approved, Investigational Phase 3,Phase 2 608141-41-9 11561674
31
Cyclophosphamide Approved, Investigational Phase 3,Phase 2 6055-19-2, 50-18-0 2907
32
Calcium polycarbophil Approved Phase 2, Phase 3 126040-58-2
33 Cinnamon Approved Phase 2, Phase 3
34 Immunologic Factors Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
35 Dermatologic Agents Phase 3,Phase 1,Phase 2,Not Applicable
36 Immunosuppressive Agents Phase 3,Phase 2,Not Applicable,Early Phase 1
37 Anti-Inflammatory Agents, Non-Steroidal Phase 3,Phase 2,Not Applicable
38 Analgesics Phase 3,Phase 2,Not Applicable
39 Analgesics, Non-Narcotic Phase 3,Phase 2,Not Applicable
40 Antibodies Phase 3,Phase 2,Phase 1
41 Antibodies, Monoclonal Phase 3,Phase 2,Phase 1
42 Immunoglobulins Phase 3,Phase 2,Phase 1
43 Interleukin 1 Receptor Antagonist Protein Phase 3,Phase 2,Phase 1
44 Vaccines Phase 3
45 Antiviral Agents Phase 3,Phase 2
46 interferons Phase 3,Phase 2
47 Anti-Infective Agents Phase 3,Phase 2
48 Interferon-alpha Phase 3,Phase 2
49 Cyclosporins Phase 3
50 Antifungal Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 112)
# Name Status NCT ID Phase Drugs
1 The Efficacy of Methylprednisolone in the Treatment of Patients With Ocular Involvement in Behcet's Disease Unknown status NCT01306955 Phase 4 methylorednisolone
2 Flucinolone Acetonide Implant for Treating Refractory Ocular Behcet's Disease Unknown status NCT00720928 Phase 4 flucinolone acetonide
3 The Comparison of the Efficacy of Once and Twice Daily Colchicine Dosage in Pediatric Patients With FMF Completed NCT02602028 Phase 4 colchicine
4 Efficacy and Safety of Danggui-Sayuk-Ga-Osuyu-Saenggang-tang on Korean Patients With Cold Hypersensitivity in the Hands Completed NCT02645916 Phase 4 Danggui-Sayuk-Ga-Osuyu-Saenggang-tang;Placebo: corn starch
5 Effect of Korean Red Ginseng on Women With Cold Hypersensitivity of Hands and Feet Completed NCT01664156 Phase 4 Korean red ginseng;Placebo
6 Saline vs. Lactated Ringers for Emergency Department IV Fluid Resuscitation Completed NCT03133767 Phase 4 Lactated Ringer Solution;Normal Saline 0.9% Infusion Solution Bag
7 Study of Efficacy and Safety of Canakinumab in Patients With Hereditary Periodic Fevers Completed NCT02059291 Phase 3 Canakinumab;Placebo
8 Kineret (Anakinra), in Adult Patients With Colchicine-Resistant Familial Mediterranean Fever Completed NCT01705756 Phase 3 Kineret
9 A Study of Canakinumab in Patients With Systemic Juvenile Idiopathic Arthritis or Hereditary Periodic Fevers Who Participated in the CACZ885G2301E1, CACZ885G2306 or CACZ885N2301 Studies Completed NCT02334748 Phase 3 canakinumab
10 An Extention Study of Safety of Canakinumab in Japanese Patients With Periodic Fever Syndromes Completed NCT02911857 Phase 3
11 Study of the Safety and Efficacy of NC-503 in Secondary (AA) Amyloidosis Completed NCT00035334 Phase 2, Phase 3 NC-503 (Anti-amyloidotic (AA) Agent)
12 The Safety and Efficacy of Canakinumab in Patients Aged 4 Years or Older Diagnosed With Cryopyrin-associated Periodic Syndromes (CAPS) in Canada Completed NCT01105507 Phase 3 canakinumab (company code: ACZ885D)
13 A Study to Evaluate Efficacy and Safety of Infliximab in Participant With Moderate-to-Severe Refractory Intestinal Behcet's Disease Completed NCT02505568 Phase 3 Infliximab
14 Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT01576367 Phase 3
15 Clinical Study of TA-650 in Patients With Behcet's Disease (BD) With Special Lesions Completed NCT01532570 Phase 3 TA-650
16 Efficacy of Humira in Behcet Patients With Arthritis Completed NCT01497717 Phase 3 Adalimumab (Humira)
17 Efficacy, Safety and Tolerability of ACZ885 in Pediatric Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT01302860 Phase 3 ACZ885
18 A Study of Adalimumab in Japanese Subjects With Intestinal Behçet's Disease Completed NCT01243671 Phase 3
19 Phase III Study in Refractory Behcet's Disease Completed NCT00995709 Phase 3 AIN457;AIN457;Placebo
20 Efficacy and Safety Study of Canakinumab Administered for 6 Months (24 Weeks) in Japanese Patients With Cryopyrin-associated Periodic Syndromes Followed by an Extension Phase Completed NCT00991146 Phase 3 canakinumab
21 Efficacy and Safety of ACZ885 in Patients With the Following Cryopyrin-associated Periodic Syndromes: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome, or Neonatal Onset Multisystem Inflammatory Disease Completed NCT00685373 Phase 3 Canakinumab (ACZ885)
22 Efficacy, Safety, and Tolerability of ACZ885 in Patients With Muckle-Wells Syndrome Completed NCT00465985 Phase 3 ACZ885;Placebo
23 Rilonacept for Treatment of Cryopyrin-Associated Periodic Syndromes (CAPS) Completed NCT00288704 Phase 3 rilonacept 160 mg;Placebo;rilonacept 160 mg
24 Interferon-alpha2a Versus Cyclosporin A for Severe Ocular Behcet`s Disease (INCYTOB) Completed NCT00167583 Phase 3 Cyclosporin A;Interferon-alpha2a
25 Colchicine in Postoperative Fontan Patients Recruiting NCT03575572 Phase 2, Phase 3 Colchicine
26 Efficacy and Safety of Ucha-Shinki-Hwan on Korean Patients With Cold Hypersensitivity in the Hands and Feet (UCHA) Recruiting NCT03790033 Phase 2, Phase 3 Ucha-Shinki-Hwan;Placebo
27 Efficacy and Safety of Sipjeondaebo-tang on Korean Patients With Cold Hypersensitivity in the Hands and Feet (SDT) Recruiting NCT03374345 Phase 2, Phase 3 Sipjeondaebo-tang Granule;Placebo
28 Efficacy and Safety of Ojeok-san on Korean Patients With Cold Hypersensitivity in the Hands and Feet Recruiting NCT03083522 Phase 3 Ojeok-San;Placebo
29 Interferon α2a Versus Cyclosporine for Refractory Behçet`s Disease Uveitis Recruiting NCT03209219 Phase 3 Interferon Alfa-2A;Cyclosporine Pill
30 A Phase 3 Randomized, Double-blind Study to Evaluate the Efficacy and Safety of Apremilast (CC-10004) in Subjects With Active Behcet's Disease Active, not recruiting NCT02307513 Phase 3 Apremilast (CC-10004);Placebo
31 Induction Therapy With Anti-TNFα vs Cyclophosphamide in Severe Behçet Disease Not yet recruiting NCT03371095 Phase 3 Infliximab;Cyclophosphamide
32 Canakinumab to Treat Neonatal-Onset Multisystem Inflammatory Disease Terminated NCT00770601 Phase 3 Canakinumab
33 Efficacy and Safety Study of Gevokizumab to Treat Behcet's Disease Uveitis Terminated NCT02258867 Phase 3 Placebo;Gevokizumab
34 Efficacy of Gevokizumab in the Treatment of Patients With Behçet's Disease Uveitis (EYEGUARD™-B) Terminated NCT01965145 Phase 3 Gevokizumab;Placebo
35 Controlled Ceasing of Colchicine Therapy in Familial Mediterranean Fever (FMF) Patients With Single MEFV (Mediterranean Fever) Gene Mutation Unknown status NCT02175589 Phase 2
36 The Efficacy and Safety of ITF2357 in AIS Unknown status NCT00442182 Phase 2 ITF2357
37 Efficacy and Safety of Canakinumab in Patients With Colchicine Resistant Familial Mediterranean Fever Completed NCT01088880 Phase 2 Canakinumab
38 Rilonacept for Treatment of Familial Mediterranean Fever (FMF) Completed NCT00582907 Phase 2 Rilonacept;Placebo
39 Evaluate the Safety and Efficacy of Canakinumab in Pediatric Patients With Colchicine Intolerant or Colchicine Resistant Familial Mediterranean Fever (FMF) Completed NCT01148797 Phase 2 Canakinumab
40 Interleukin-1 Trap to Treat Autoinflammatory Diseases Completed NCT00094900 Phase 2 IL-1 Trap
41 Rilonacept for Deficiency of the Interleukin-1 Receptor Antagonist (DIRA) Completed NCT01801449 Phase 2 Rilonacept
42 Ilaris (Canakinumab) in the Schnitzler Syndrome Completed NCT01245127 Phase 2 Ilaris
43 Efficacy and Safety Study of ACZ885 in Patients With Active Recurrent or Chronic TNF-receptor Associated Periodic Syndrome (TRAPS). Completed NCT01242813 Phase 2 ACZ885
44 Intravitreal Infliximab in Refractory Uveitis in Behcet's Disease: A Safety and Efficacy Clinical Study Completed NCT02620618 Phase 1, Phase 2 Intravitreal Infliximab
45 Canakinumab in Patients With Active Hyper-IgD Syndrome Completed NCT01303380 Phase 2 Canakinumab
46 Safety and Tolerability of Rilonacept in Muckle-Wells Syndrome (MWS) or Schnitzler Syndrome (SchS) Completed NCT01045772 Phase 2 rilonacept
47 A Study to Evaluate the Efficacy and Safety of Apremilast (CC-10004) in the Treatment of Behçet Disease Completed NCT00866359 Phase 2 Apremilast (CC-10004);Placebo
48 Colchicine Randomized Double-Blind Controlled Crossover Study in Behcet's Disease Completed NCT00700297 Phase 2 Colchicine;Placebo
49 Rituximab for the Treatment of Severe Ocular Manifestations of Behcet's Disease Completed NCT00664599 Phase 2 Rituximab;Cytotoxic Combination
50 Low Dose Interferon Alpha Treatment for Oral Ulcers of Behcet's Disease Completed NCT00483184 Phase 2

Search NIH Clinical Center for Autoinflammation with Arthritis and Dyskeratosis

Cochrane evidence based reviews: hereditary autoinflammatory diseases

Genetic Tests for Autoinflammation with Arthritis and Dyskeratosis

Anatomical Context for Autoinflammation with Arthritis and Dyskeratosis

MalaCards organs/tissues related to Autoinflammation with Arthritis and Dyskeratosis:

42
Skin, B Cells, Thyroid, Testes, Eye, Neutrophil, T Cells

Publications for Autoinflammation with Arthritis and Dyskeratosis

Articles related to Autoinflammation with Arthritis and Dyskeratosis:

# Title Authors Year
1
Transient left bundle branch block and left ventricular dysfunction in a patient with NLRP1-associated autoinflammation with arthritis and dyskeratosis syndrome. ( 30681047 )
2019
2
A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis). ( 27965258 )
2017
3
Treatment of hereditary autoinflammatory diseases. ( 24667287 )
2014

Variations for Autoinflammation with Arthritis and Dyskeratosis

ClinVar genetic disease variations for Autoinflammation with Arthritis and Dyskeratosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NLRP1 NM_001033053.2(NLRP1): c.2176C> T (p.Arg726Trp) single nucleotide variant Uncertain significance rs776245016 GRCh38 Chromosome 17, 5558520: 5558520
2 NLRP1 NM_001033053.2(NLRP1): c.2176C> T (p.Arg726Trp) single nucleotide variant Uncertain significance rs776245016 GRCh37 Chromosome 17, 5461840: 5461840
3 NLRP1 NM_001033053.2(NLRP1): c.3653C> G (p.Pro1218Arg) single nucleotide variant Pathogenic rs1057524876 GRCh38 Chromosome 17, 5521666: 5521666
4 NLRP1 NM_001033053.2(NLRP1): c.3653C> G (p.Pro1218Arg) single nucleotide variant Pathogenic rs1057524876 GRCh37 Chromosome 17, 5424986: 5424986

Expression for Autoinflammation with Arthritis and Dyskeratosis

Search GEO for disease gene expression data for Autoinflammation with Arthritis and Dyskeratosis.

Pathways for Autoinflammation with Arthritis and Dyskeratosis

Pathways related to Autoinflammation with Arthritis and Dyskeratosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.52 CASP1 IL18 NLRP1
2
Show member pathways
12.14 CASP1 IL18
3 11.7 CASP1 NLRP1
4
Show member pathways
11.47 CASP1 IL18
5
Show member pathways
11.46 CASP1 NLRP1
6 11.3 CASP1 IL18
7 11 CASP1 IL18
8 10.74 CASP1 IL18 NLRP1
9 10.14 CASP1 IL18 NLRP1
10 10 CASP1 IL18

GO Terms for Autoinflammation with Arthritis and Dyskeratosis

Cellular components related to Autoinflammation with Arthritis and Dyskeratosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NLRP1 inflammasome complex GO:0072558 8.62 CASP1 NLRP1

Biological processes related to Autoinflammation with Arthritis and Dyskeratosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.37 IL18 NLRP1
2 cytokine-mediated signaling pathway GO:0019221 9.32 CASP1 IL18
3 regulation of apoptotic process GO:0042981 9.26 CASP1 NLRP1
4 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.16 CASP1 NLRP1
5 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 8.96 CASP1 NLRP1
6 positive regulation of interleukin-1 beta secretion GO:0050718 8.62 CASP1 NLRP1

Molecular functions related to Autoinflammation with Arthritis and Dyskeratosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cysteine-type endopeptidase activator activity involved in apoptotic process GO:0008656 8.62 CASP1 NLRP1

Sources for Autoinflammation with Arthritis and Dyskeratosis

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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