MCID: KRT005
MIFTS: 47

Keratoacanthoma

Categories: Cancer diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Keratoacanthoma

MalaCards integrated aliases for Keratoacanthoma:

Name: Keratoacanthoma 12 73 54 44 15 70

Classifications:



External Ids:

Disease Ontology 12 DOID:3149
MeSH 44 D007636
NCIt 50 C3146
SNOMED-CT 67 201061007
UMLS 70 C0022572

Summaries for Keratoacanthoma

MalaCards based summary : Keratoacanthoma is related to muir-torre syndrome and mismatch repair cancer syndrome 1, and has symptoms including pruritus and exanthema. An important gene associated with Keratoacanthoma is MSH2 (MutS Homolog 2), and among its related pathways/superpathways are Developmental Biology and PI3K-Akt signaling pathway. The drugs Lidocaine and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include breast, skin and colon, and related phenotypes are cellular and digestive/alimentary

Wikipedia : 73 Keratoacanthoma (KA) is a common low-grade (unlikely to metastasize or invade) rapidly-growing skin... more...

Related Diseases for Keratoacanthoma

Diseases in the Keratoacanthoma family:

Familial Keratoacanthoma

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

(show top 50) (show all 405)
# Related Disease Score Top Affiliating Genes
1 muir-torre syndrome 31.8 TP53 MSH2 MLH1
2 mismatch repair cancer syndrome 1 31.3 MSH2 MLH1 CTNNB1
3 squamous cell papilloma 30.8 TP53 KRT14
4 verrucous carcinoma 30.6 TP53 KRT10 EGFR
5 bowen's disease 30.4 MKI67 KRT16 KRT10 IVL
6 acanthoma 30.2 TP53 KRT17 KRT10 CD1A
7 pilomatrixoma 30.2 KRT17 KRT15 KRT14 CTNNB1
8 actinic keratosis 30.2 TP53 MYC KRT17 FLG CTNNB1
9 nevus, epidermal 30.1 KRT16 KRT10 IVL
10 clear cell acanthoma 30.1 KRT10 IVL FLG
11 merkel cell carcinoma 30.1 TP53 MYC CTNNB1
12 keratinizing squamous cell carcinoma 30.0 TP53 EGFR CDH1
13 skin benign neoplasm 30.0 MSH2 MLH1 KRT14
14 squamous cell carcinoma 30.0 TP53 MYC MKI67 IVL EGFR CTNNB1
15 discoid lupus erythematosus 29.9 KRT16 KRT10 IVL GZMB FLG
16 keratosis, seborrheic 29.8 TP53 KRT17 KRT10 IVL CD1A
17 conjunctival squamous cell carcinoma 29.8 TP53 KRT15
18 keratosis 29.8 TP53 KRT17 KRT16 KRT14 KRT10 IVL
19 oral cancer 29.8 TP53 EGFR CDKN1A CDH1
20 papilloma 29.8 TP53 KRT14 KRT10 IVL FLG EGFR
21 sebaceous adenoma 29.8 MSH2 MLH1 KRT15
22 palmoplantar keratosis 29.7 KRT17 KRT16 KRT10 DSG1
23 porokeratosis 29.5 TP53 KRT16 IVL FLG
24 sarcoma 29.5 TP53 MYC MSH2 CTNNB1 CDKN1A
25 dyskeratosis congenita 29.5 TP53 MYC KRT16 KRT10
26 melanoma 29.5 TP53 MYC GZMB EGFR CTNNB1 CDKN1A
27 sebaceous adenocarcinoma 29.5 TP53 MSH2 MLH1 KRT14
28 leukemia, chronic myeloid 29.5 TP53 MYC GZMB EGFR CDKN1A
29 ectodermal dysplasia 29.4 KRT17 KRT16 KRT14 DSG1 CDH1
30 dermatitis 29.4 KRT16 IVL GZMB FLG DSG1
31 lynch syndrome 29.4 TP53 MSH2 MLH1 EGFR CTNNB1
32 adenoma 29.4 TP53 MSH2 MLH1 MKI67 CTNNB1 CDH1
33 lichen planus 29.3 TP53 KRT16 KRT10 IVL GZMB FLG
34 in situ carcinoma 29.3 TP53 MYC KRT17 KRT14 EGFR CTNNB1
35 psoriasis 29.3 KRT17 KRT16 KRT15 KRT14 KRT10 IVL
36 squamous cell carcinoma, head and neck 28.5 TP53 MYC MLH1 EGFR CTNNB1 CDKN1A
37 skin disease 28.5 TP53 KRT17 KRT16 KRT14 KRT10 IVL
38 cervical squamous cell carcinoma 28.4 TP53 MYC MLH1 MKI67 KRT17 EGFR
39 basal cell carcinoma 28.0 TP53 MSH2 MLH1 MKI67 KRT17 KRT16
40 skin carcinoma 27.9 TP53 MYC MSH2 MLH1 KRT17 KRT15
41 multiple self-healing squamous epithelioma 11.2
42 familial keratoacanthoma 11.2
43 generalized eruptive keratoacanthoma 11.2
44 vulvar keratoacanthoma-like carcinoma 11.1
45 spitz nevus 10.4 TP53 MKI67
46 necrotizing sialometaplasia 10.4 TP53 MKI67
47 ameloblastic carcinoma 10.4 MKI67 KRT14
48 follicular infundibulum tumor 10.4 KRT17 KRT15
49 benign breast adenomyoepithelioma 10.4 KRT14 EGFR
50 sarcomatoid transitional cell carcinoma 10.3 TP53 CDH1

Graphical network of the top 20 diseases related to Keratoacanthoma:



Diseases related to Keratoacanthoma

Symptoms & Phenotypes for Keratoacanthoma

UMLS symptoms related to Keratoacanthoma:


pruritus; exanthema

MGI Mouse Phenotypes related to Keratoacanthoma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.21 BAK1 CDH1 CDKN1A CTNNB1 EGFR KRT14
2 digestive/alimentary MP:0005381 10.15 CDH1 CDKN1A CTNNB1 EGFR KRT14 KRT15
3 integument MP:0010771 10.03 CDH1 CDKN1A CTNNB1 DSG1 EGFR KRT14
4 craniofacial MP:0005382 10.01 CDKN1A CTNNB1 EGFR KRT14 KRT16 KRT17
5 hearing/vestibular/ear MP:0005377 9.87 BAK1 CDKN1A CTNNB1 EGFR KRT14 MYC
6 neoplasm MP:0002006 9.85 BAK1 CDH1 CDKN1A CTNNB1 EGFR KRT14
7 no phenotypic analysis MP:0003012 9.56 CDH1 CDKN1A CTNNB1 EGFR KRT17 MKI67
8 pigmentation MP:0001186 9.1 CTNNB1 EGFR KRT14 KRT17 MYC TP53

Drugs & Therapeutics for Keratoacanthoma

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2 Anesthetics Phase 4
3 Sodium Channel Blockers Phase 4
4 Anti-Arrhythmia Agents Phase 4
5 Diuretics, Potassium Sparing Phase 4
6 Anesthetics, Local Phase 4
7
Talimogene laherparepvec Approved, Experimental, Investigational Phase 2 1187560-31-1
8
nivolumab Approved Phase 2 946414-94-4
9 Antineoplastic Agents, Immunological Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Use of Local Anesthetic in Intralesional Corticosteroid Injections; A Randomized, Double Blind Controlled Trial Completed NCT03630198 Phase 4 Corticosteroid with lidocaine;Corticosteroid with normal saline
2 A Single Arm Phase 2 Study of Talimogene Laherparepvec in Patients With Cutaneous Squamous Cell Cancer Recruiting NCT03714828 Phase 2 Injection of TVEC into target lesions - week 1-2;Injection of TVEC into target lesions 3wks after 1st injection;Injection of TVEC into target lesions 2wks after 2nd injection;Injection of TVEC into target lesions 2wks after 3rd injection
3 A Phase II Study of Talimogene Laherparepvec Followed by Talimogene Laherparepvec + Nivolumab in Refractory T Cell and NK Cell Lymphomas, Cutaneous Squamous Cell Carcinoma, Merkel Cell Carcinoma, and Other Rare Skin Tumors Recruiting NCT02978625 Phase 2

Search NIH Clinical Center for Keratoacanthoma

Cochrane evidence based reviews: keratoacanthoma

Genetic Tests for Keratoacanthoma

Anatomical Context for Keratoacanthoma

MalaCards organs/tissues related to Keratoacanthoma:

40
Breast, Skin, Colon, Tongue, Myeloid, Bone, Lung

Publications for Keratoacanthoma

Articles related to Keratoacanthoma:

(show top 50) (show all 1515)
# Title Authors PMID Year
1
Solitary subungual keratoacanthoma arising in an MSH2 germline mutation carrier: confirmation of a relationship by immunohistochemical analysis. 61 54
19602866 2009
2
Keratin and filaggrin expression in keratoacanthoma. 54 61
18005116 2008
3
Expression of apoptotic and cell proliferation regulatory proteins in keratoacanthomas and squamous cell carcinomas of the skin. 54 61
18079070 2008
4
A comparative study of granzyme B expression in keratoacanthoma and squamous cell carcinoma. 61 54
16952444 2006
5
Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas. 61 54
16826164 2006
6
Transformation-specific matrix metalloproteinases, MMP-7 and MMP-13, are present in epithelial cells of keratoacanthomas. 61 54
16699496 2006
7
Possible key role of granzyme B in keratoacanthoma regression. 61 54
16497444 2006
8
Expression of keratin and involucrin in keratoacanthoma: an immunohistochemical aid to diagnosis. 54 61
15033195 2004
9
Cytokeratin 10 and Ki-67 nuclear marker expression in keratoacanthoma and squamous cell carcinoma. 61 54
15588557 2004
10
Expression of cell-cycle proteins p53, p21 (WAF-1), PCNA and Ki-67 in benign, premalignant and malignant skin lesions with implicated HPV involvement. 61 54
10429981 1999
11
Expression of trichohyalin in dermatological disorders: a comparative study with involucrin and filaggrin by immunohistochemical staining. 61 54
10228630 1999
12
Expression of bcl-2 antagonist bak in inflammatory and neoplastic skin diseases. 54 61
9415228 1997
13
Human collagenase-3 is expressed in malignant squamous epithelium of the skin. 54 61
9242512 1997
14
Keratoacanthoma and squamous cell carcinoma: study of PCNA and Le(Y) expression. 61 54
9274958 1997
15
Differential expression of desmosomal glycoproteins in keratoacanthoma and squamous cell carcinoma of the skin: an immunohistochemical aid to diagnosis. 54 61
8891017 1996
16
Proliferating cell nuclear antigen (PCNA) expression in pseudoepitheliomatous hyperplasia, keratoacanthoma and squamous cell carcinoma of the skin. 54 61
8893923 1996
17
Proliferating cell nuclear antigen immunostaining in keratoacanthoma and squamous cell carcinoma of the skin. 61 54
7617390 1994
18
Proliferating cell nuclear antigen distribution in keratoacanthoma and squamous cell carcinoma. 61 54
7507945 1993
19
'Anti-metastatic' nm23 gene product expression in keratoacanthoma and squamous cell carcinoma. 54 61
8358113 1993
20
Expression of ras proto-oncogene related protein p21 in normal human skin and cutaneous tumours. 54 61
1326835 1992
21
[Cancer-associated genodermatoses]. 61
33661338 2021
22
A review of CD30 expression in cutaneous neoplasms. 61
33047376 2021
23
Keratoacanthoma: Update on the Debate. 61
33395044 2021
24
Grzybowski's Generalized Eruptive Keratoacanthomas in a Patient with Terminal Kidney Disease-An Unmet Medical Need Equally Ameliorated by Topical Imiquimod Cream and Lapacho Tea Wraps: A Case Report. 61
33620676 2021
25
Management of keratoacanthoma with perineural invasion: case reports and literature review. 61
33759182 2021
26
Perianal keratoacanthoma in a 76-year-old man. 61
33788353 2021
27
Sebaceous Tumors of the Skin: A Study of 145 Lesions From 136 Patients Correlating Pathologic Features and DNA Mismatch Repair Staining Pattern. 61
33201015 2021
28
Cutaneous Squamous Cell Carcinoma in Lynch Syndrome - An Overlooked Association. 61
33654645 2021
29
A case of Muir-Torre syndrome with a keratoacanthoma and sebaceous neoplasms: Clinicopathological features and a speculation on the pathogenesis of cutaneous tumor type. 61
33523490 2021
30
Skin tumors in xeroderma pigmentosum: Evaluation of a large series and a literature review. 61
33569789 2021
31
Intralesional 5-Fluorouracil for Treatment of Non-Melanoma Skin Cancer: A Systematic Review. 61
33538569 2021
32
Dermatoscopic findings and dermatopathological correlates in clinical variants of actinic keratosis, Bowen's disease, keratoacanthoma, and squamous cell carcinoma. 61
33583118 2021
33
Keratoacanthoma, committed stem cells and neoplastic aberrant infundibulogenesis integral to formulating a conceptual model for an infundibulocystic pathway to squamous cell carcinoma. 61
32881028 2021
34
Case for diagnosis. A pruritic eruption of keratotic papules over the face and neck. 61
33281010 2021
35
Multiple Keratoacanthomas after a Recent Tattoo: A Case Report. 61
33613230 2021
36
Assessment of Incidence Rate and Risk Factors for Keratoacanthoma Among Residents of Queensland, Australia. 61
33026421 2020
37
Skin Metastasis of Laryngeal Carcinoma Presenting as Multiple Eruptive Nodules. 61
32040822 2020
38
Altered hydroxymethylation in cutaneous squamous cell carcinoma and keratoacanthoma. 61
32407588 2020
39
Histological findings after intralesional methotrexate treatment in cutaneous squamous cell carcinoma. 61
33030310 2020
40
A Case of Giant Proliferative Periocular Pyogenic Granuloma. 61
33179542 2020
41
The first report of diagnosing of keratoacanthoma in Chinese Han patients using dermoscopy and reflectance confocal microscopy. 61
33098126 2020
42
The Effectiveness of Cryosurgery Combined with Curettage and Electrodessication in the Treatment of Keratoacanthoma: A Retrospective Analysis of 90 Cases. 61
33165435 2020
43
[Giant keratinized chalazion masquerading as a keratoacanthoma in a child]. 61
33004197 2020
44
Keratoacanthoma arising within a linear epidermal nevus. 61
31347516 2020
45
Pseudocarcinomatous Hyperplasia, Squamous Cell Carcinoma, and Keratoacanthoma Associated to Lymphomas of the Skin and External Mucous Membranes: A Case Report and Literature Review. 61
31833842 2020
46
The incidence and risk of cutaneous toxicities associated with dabrafenib in melanoma patients: a systematic review and meta-analysis. 61
32883694 2020
47
Onycholemmal variant of keratoacanthoma centrifugum marginatum as an expression of mutated committed stem cells in a conceptual pathway. 61
32166739 2020
48
Intralesional Methotrexate for the Treatment of Advanced Keratinocytic Tumors: A Multi-Center Retrospective Study. 61
32535811 2020
49
Web Application for the Automated Extraction of Diagnosis and Site From Pathology Reports for Keratinocyte Cancers. 61
32755460 2020
50
Tumor immunotherapy - A lot to learn from Keratoacanthoma. 61
32283443 2020

Variations for Keratoacanthoma

Expression for Keratoacanthoma

Search GEO for disease gene expression data for Keratoacanthoma.

Pathways for Keratoacanthoma

Pathways related to Keratoacanthoma according to GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.48 KRT17 KRT16 KRT15 KRT14 KRT10 IVL
2
Show member pathways
12.99 TP53 MYC EGFR CTNNB1 CDKN1A BAK1
3
Show member pathways
12.94 TP53 MYC EGFR CTNNB1 CDKN1A BAK1
4
Show member pathways
12.73 TP53 MYC MLH1 EGFR CTNNB1 CDKN1A
5
Show member pathways
12.7 TP53 MYC GZMB CDKN1A BAK1
6 12.7 TP53 MYC MSH2 MLH1 EGFR CTNNB1
7
Show member pathways
12.68 TP53 EGFR CDKN1A CDH1 BAK1
8
Show member pathways
12.6 TP53 MYC MSH2 MLH1 EGFR CTNNB1
9
Show member pathways
12.59 TP53 MYC MSH2 EGFR CTNNB1 CDKN1A
10 12.53 TP53 MYC EGFR CDKN1A BAK1
11 12.5 TP53 MSH2 MLH1 MKI67 CDKN1A
12 12.36 TP53 MYC CDKN1A CDH1
13
Show member pathways
12.36 TP53 MYC EGFR CTNNB1 CDH1
14
Show member pathways
12.33 TP53 EGFR CTNNB1 CDKN1A BAK1
15
Show member pathways
12.32 MYC EGFR CTNNB1 CDH1
16 12.31 TP53 MYC EGFR CTNNB1 CDKN1A
17 12.27 TP53 MYC GZMB CDKN1A BAK1
18
Show member pathways
12.21 KRT17 KRT16 KRT15 KRT14 KRT10 IVL
19 12.05 KRT17 KRT16 KRT15 KRT14 KRT10 EGFR
20 12 TP53 MSH2 MLH1 EGFR CDKN1A BAK1
21 11.99 TP53 MYC CTNNB1 CDKN1A BAK1
22 11.97 TP53 MYC EGFR CTNNB1 CDKN1A
23 11.89 TP53 MYC CDKN1A BAK1
24
Show member pathways
11.86 MYC EGFR CDKN1A
25 11.86 KRT14 IVL CTNNB1
26
Show member pathways
11.85 EGFR CTNNB1 CDH1
27 11.84 EGFR CTNNB1 CDKN1A
28 11.83 KRT17 KRT16 KRT15 KRT14 KRT10 DSG1
29 11.82 TP53 MYC CDKN1A
30 11.82 TP53 KRT17 KRT14 CDKN1A
31 11.77 MYC CTNNB1 CDH1
32 11.76 TP53 MSH2 MLH1 CDKN1A BAK1
33 11.74 MKI67 CTNNB1 CDKN1A
34 11.74 TP53 MYC EGFR CDKN1A CDH1
35 11.72 EGFR CTNNB1 CDH1
36 11.72 MYC EGFR CTNNB1 CDKN1A
37 11.71 TP53 MYC EGFR
38 11.69 TP53 MYC MSH2 EGFR CTNNB1 CDH1
39 11.57 TP53 EGFR CDKN1A BAK1
40 11.56 TP53 MYC CDKN1A
41 11.54 TP53 MYC CDKN1A
42 11.52 MYC EGFR CDKN1A
43 11.51 TP53 MYC MSH2 CDKN1A
44 11.47 TP53 MYC CDKN1A
45
Show member pathways
11.47 MYC MSH2 MLH1
46 11.44 TP53 MYC MSH2 MLH1 EGFR CTNNB1
47 11.42 EGFR CTNNB1 CDH1
48
Show member pathways
11.42 TP53 MSH2 MLH1
49 11.33 TP53 MYC EGFR CTNNB1
50
Show member pathways
11.14 TP53 MYC CDKN1A

GO Terms for Keratoacanthoma

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.25 TP53 MYC MSH2 MLH1 MKI67 KRT16
2 cytosol GO:0005829 9.97 TP53 KRT17 KRT16 KRT15 KRT14 KRT10
3 cell periphery GO:0071944 9.54 KRT17 KRT14 CTNNB1
4 lateral plasma membrane GO:0016328 9.5 DSG1 CTNNB1 CDH1
5 mismatch repair complex GO:0032300 9.43 MSH2 MLH1
6 flotillin complex GO:0016600 9.26 CTNNB1 CDH1
7 cornified envelope GO:0001533 9.26 KRT10 IVL FLG DSG1
8 intermediate filament GO:0005882 9.1 KRT17 KRT16 KRT15 KRT14 KRT10 FLG

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 10.02 TP53 MYC EGFR CTNNB1 CDKN1A
2 cellular response to DNA damage stimulus GO:0006974 10.01 TP53 MYC MSH2 MLH1 CDKN1A
3 cell-cell adhesion GO:0098609 9.87 EGFR DSG1 CTNNB1 CDH1
4 cell cycle arrest GO:0007050 9.8 TP53 MYC MSH2 CDKN1A
5 cellular response to drug GO:0035690 9.77 TP53 MYC EGFR
6 cellular response to UV GO:0034644 9.75 TP53 MYC BAK1
7 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.69 MSH2 MLH1 BAK1
8 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.63 TP53 MSH2 CDKN1A
9 response to drug GO:0042493 9.63 TP53 MYC CTNNB1 CDKN1A CDH1 BAK1
10 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.62 TP53 EGFR
11 positive regulation of isotype switching to IgG isotypes GO:0048304 9.61 MSH2 MLH1
12 peptide cross-linking GO:0018149 9.61 KRT10 IVL FLG
13 response to UV-B GO:0010224 9.6 MSH2 IVL
14 entry of bacterium into host cell GO:0035635 9.58 CTNNB1 CDH1
15 response to gamma radiation GO:0010332 9.58 TP53 MYC BAK1
16 signal transduction by p53 class mediator GO:0072331 9.56 TP53 CDKN1A
17 keratinocyte differentiation GO:0030216 9.56 KRT16 KRT10 IVL FLG
18 cellular response to indole-3-methanol GO:0071681 9.55 CTNNB1 CDH1
19 positive regulation of isotype switching to IgA isotypes GO:0048298 9.54 MSH2 MLH1
20 somatic recombination of immunoglobulin gene segments GO:0016447 9.52 MSH2 MLH1
21 response to X-ray GO:0010165 9.5 TP53 MSH2 CDKN1A
22 keratinization GO:0031424 9.5 KRT17 KRT16 KRT15 KRT14 KRT10 IVL
23 fibroblast apoptotic process GO:0044346 9.48 MYC BAK1
24 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.37 MSH2 MLH1
25 cornification GO:0070268 9.23 KRT17 KRT16 KRT15 KRT14 KRT10 IVL

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.96 TP53 MYC MSH2 MLH1 MKI67 KRT17
2 protein kinase binding GO:0019901 9.77 TP53 MSH2 EGFR CTNNB1 CDKN1A
3 chromatin binding GO:0003682 9.72 TP53 MSH2 MLH1 EGFR CTNNB1
4 enzyme binding GO:0019899 9.65 TP53 MSH2 MLH1 EGFR CTNNB1
5 protein phosphatase binding GO:0019903 9.63 TP53 EGFR CTNNB1
6 gamma-catenin binding GO:0045295 9.43 DSG1 CDH1
7 mismatched DNA binding GO:0030983 9.4 MSH2 MLH1
8 guanine/thymine mispair binding GO:0032137 9.16 MSH2 MLH1
9 structural molecule activity GO:0005198 9.1 KRT17 KRT16 KRT15 KRT14 KRT10 FLG

Sources for Keratoacanthoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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