MCID: PPL004
MIFTS: 40

Papillary Squamous Carcinoma

Categories: Cancer diseases, Skin diseases

Aliases & Classifications for Papillary Squamous Carcinoma

MalaCards integrated aliases for Papillary Squamous Carcinoma:

Name: Papillary Squamous Carcinoma 12 15
Papillary Squamous Cell Carcinoma 71
Papillary Epidermoid Carcinoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:4385
NCIt 49 C4102
SNOMED-CT 67 39056008
UMLS 71 C0334244

Summaries for Papillary Squamous Carcinoma

Disease Ontology : 12 A squamous cell carcinoma that has papillae, which are characterized either by narrow fibrovascular cores that superficially resemble papillary carcinoma of the urinary tract or by broad cores that contain edematous fibrous stroma with prominent capillaries and stromal inflammation.

MalaCards based summary : Papillary Squamous Carcinoma, also known as papillary squamous cell carcinoma, is related to cervical carcinosarcoma and hemometra. An important gene associated with Papillary Squamous Carcinoma is MAPK8IP1 (Mitogen-Activated Protein Kinase 8 Interacting Protein 1), and among its related pathways/superpathways is MAPK signaling pathway. Affiliated tissues include breast, cervix and lung, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Papillary Squamous Carcinoma

Diseases related to Papillary Squamous Carcinoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 231)
# Related Disease Score Top Affiliating Genes
1 cervical carcinosarcoma 10.5 MAPK8IP2 MAPK8IP1
2 hemometra 10.5 MAPK8IP1 INSM1
3 radiation cystitis 10.5 MAPK8IP2 MAPK8IP1
4 lymphocele 10.5 MAPK8IP2 MAPK8IP1
5 cervical incompetence 10.5 MAPK8IP1 INSM1
6 sigmoid disease 10.4 MAPK8IP2 MAPK8IP1
7 early invasive cervical adenocarcinoma 10.4 INSM1 CDKN2A
8 ameloblastic carcinoma 10.3 MAPK8IP2 CDKN2A
9 isthmus cancer 10.3 MAPK8IP2 MAPK8IP1 INSM1
10 benign struma ovarii 10.3 MAPK8IP2 MAPK8IP1 INSM1
11 vulva basal cell carcinoma 10.3 SYP KRT5
12 cloacogenic carcinoma 10.3 SYP KRT5
13 breast papillary carcinoma 10.3 SYP KRT5
14 vulvar eccrine porocarcinoma 10.3 SYP CDKN2A
15 atypical neurofibroma 10.3 SUPV3L1 CDKN2A
16 fallopian tube endometrioid adenocarcinoma 10.3 INSM1 CDKN2A
17 vaginal discharge 10.3 MAPK8IP2 MAPK8IP1
18 cervical adenosquamous carcinoma 10.2 MAPK8IP1 EGFR
19 cervix small cell carcinoma 10.2 SYP MAPK8IP2 MAPK8IP1
20 middle ear carcinoma 10.2 SYP KRT5
21 gallbladder small cell carcinoma 10.2 SYP CDKN2A
22 frontal lobe neoplasm 10.2 SYP EGFR
23 esophageal basaloid squamous cell carcinoma 10.2 KRT5 EGFR
24 uterus carcinoma in situ 10.2 MAPK8IP1 INSM1 CDKN2A
25 cervix uteri carcinoma in situ 10.2 MAPK8IP1 INSM1 CDKN2A
26 malignant peritoneal mesothelioma 10.2 EGFR CDKN2A
27 spinal cord oligodendroglioma 10.2 SYP EGFR
28 breast malignant phyllodes tumor 10.2 KRT5 EGFR
29 balanitis xerotica obliterans 10.1 TGM3 ELN
30 esophagus verrucous carcinoma 10.1 EGFR CDKN2A
31 supraglottis cancer 10.1 EGFR CDKN2A
32 mucinous lung adenocarcinoma 10.1 ERBB3 EGFR
33 bone squamous cell carcinoma 10.0 EGFR CDKN2A
34 ovary neuroendocrine neoplasm 10.0 SYP KRT7
35 paronychia 10.0 ERBB3 EGFR
36 breast adenomyoepithelioma 10.0 KRT7 KRT5
37 ovarian large-cell neuroendocrine carcinoma 10.0 SYP KRT7
38 mucinous adenofibroma 10.0 SYP KRT7
39 small cell carcinoma of the bladder 10.0 SYP KRT7
40 urinary bladder small cell neuroendocrine carcinoma 10.0 SYP KRT7
41 rectum neuroendocrine neoplasm 10.0 SYP KRT7
42 auditory system cancer 10.0 SYP KRT7
43 lymphoepithelioma-like thymic carcinoma 10.0 SYP KRT5 CDKN2A
44 krukenberg carcinoma 10.0 SYP KRT7
45 jejunal neoplasm 10.0 SYP KRT7
46 malignant spiradenoma 10.0 KRT7 KRT5
47 ceruminoma 10.0 KRT7 KRT5
48 ureter adenocarcinoma 10.0 KRT7 KRT5
49 subareolar duct papillomatosis 10.0 KRT7 KRT5
50 cervix carcinoma 10.0 MAPK8IP2 MAPK8IP1 INSM1 CDKN2A

Graphical network of the top 20 diseases related to Papillary Squamous Carcinoma:



Diseases related to Papillary Squamous Carcinoma

Symptoms & Phenotypes for Papillary Squamous Carcinoma

GenomeRNAi Phenotypes related to Papillary Squamous Carcinoma according to GeneCards Suite gene sharing:

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.88 EGFR
2 Decreased viability GR00106-A-0 9.88 ERBB3
3 Decreased viability GR00173-A 9.88 MAPK8IP1
4 Decreased viability GR00221-A-1 9.88 CDKN2A EGFR
5 Decreased viability GR00221-A-2 9.88 ERBB3 MAPK8IP2
6 Decreased viability GR00221-A-3 9.88 CDKN2A
7 Decreased viability GR00221-A-4 9.88 CDKN2A EGFR ERBB3 MAPK8IP1
8 Decreased viability GR00301-A 9.88 ERBB3 MAPK8IP1
9 Decreased viability GR00342-S-1 9.88 MAPK8IP2
10 Decreased viability GR00342-S-2 9.88 ERBB3
11 Decreased viability GR00342-S-3 9.88 ERBB3 MAPK8IP1 MAPK8IP2
12 Decreased viability GR00402-S-2 9.88 CDKN2A EGFR ERBB3 MAPK8IP1 MAPK8IP2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.73 KRT5
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.73 KRT5
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.73 INSM1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.73 EGFR
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.73 KRT7
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.73 KRT5 KRT7
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.73 KRT7
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.73 EGFR INSM1 KRT5 KRT7

MGI Mouse Phenotypes related to Papillary Squamous Carcinoma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.91 CDKN2A EGFR ERBB3 INSM1 KRT5 MAPK8IP1
2 endocrine/exocrine gland MP:0005379 9.87 CDKN2A EGFR ERBB3 INSM1 MAPK8IP1 MAPK8IP2
3 digestive/alimentary MP:0005381 9.85 CDKN2A EGFR ERBB3 INSM1 KRT5 SUPV3L1
4 mortality/aging MP:0010768 9.85 CDKN2A EGFR ERBB3 INSM1 KRT5 MAPK8IP1
5 no phenotypic analysis MP:0003012 9.43 CDKN2A EGFR INSM1 KRT5 MAPK8IP2 SUPV3L1
6 respiratory system MP:0005388 9.1 CDKN2A EGFR ERBB3 INSM1 SUPV3L1 TGM3

Drugs & Therapeutics for Papillary Squamous Carcinoma

Search Clinical Trials , NIH Clinical Center for Papillary Squamous Carcinoma

Genetic Tests for Papillary Squamous Carcinoma

Anatomical Context for Papillary Squamous Carcinoma

MalaCards organs/tissues related to Papillary Squamous Carcinoma:

40
Breast, Cervix, Lung, Ovary, Tonsil, Heart, Bone

Publications for Papillary Squamous Carcinoma

Articles related to Papillary Squamous Carcinoma:

(show top 50) (show all 96)
# Title Authors PMID Year
1
Pulmonary papillary squamous cell carcinoma: a population-based analysis of incidence, treatment, and prognosis. 61
31737312 2019
2
Verruciform and Condyloma-like Squamous Proliferations in the Anogenital Region. 61
30203987 2019
3
HPV-Related Papillary Lesions of the Oral Mucosa: A Review. 61
30693456 2019
4
Oral carcinoma cuniculatum, an unacquainted variant of oral squamous cell carcinoma: A systematic review. 61
30607347 2018
5
Combined External, Endoscopic, Endonasal-Assisted En Bloc Resection of Malignant Tumors From the Lacrimal Drainage System. 61
29944561 2018
6
HPV-related papillary squamous cell carcinoma of the tonsil during treatment with fingolimod. 61
29734135 2018
7
Unusual Papillary Squamous Cell Carcinoma of the Tip of Tongue Presenting in a Patient Status Post Heart Transplant. 61
29970551 2018
8
Immunohistochemical Characterization of Canine Oral Papillary Squamous Cell Carcinoma. 61
29262763 2018
9
Injectable Chemotherapy Downstaged Oral Squamous Cell Carcinoma from Nonresectable to Resectable in a Rescue Dog: Diagnosis, Treatment, and Outcome. 61
30402324 2018
10
The clinical application of tumor markers in the screening of malignancies and interstitial lung disease of dermatomyositis/polymyositis patients: A retrospective study. 61
29977547 2018
11
Proliferative endophytic lesion of the maxilla: A diagnostic challenge. 61
29491613 2018
12
Diagnosis and treatment of cervical papillary squamous cell carcinoma with unknown depth of stromal invasion. 61
28504849 2017
13
Papillary squamous cell carcinoma of the palatine tonsil: a rare cancer of the head and neck. 61
28530265 2017
14
Squamous cell carcinoma of the upper aerodigestive tract: dysplasia and select variants. 61
28060368 2017
15
Papillary squamous cell carcinoma of the cervix: Two cases and a review of the literature. 61
27790636 2016
16
Papillary Squamous Cell Carcinoma of the Cheek. 61
27228376 2016
17
Exophytic Verrucous Hyperplasia of the Oral Cavity – Application of Standardized Criteria for Diagnosis from a Consensus Report 61
27865210 2016
18
Immunohistochemical findings and differential diagnosis of papillary-type cutaneous verrucous carcinoma of the neck: A case report. 61
26788215 2015
19
Role of FNA cytology with cell block in the diagnosis of papillary squamous cell carcinoma of the upper aero-digestive tract: case report. 61
25303677 2015
20
Laryngeal Papillary Squamous Cell Carcinoma: A Population-Based Analysis of Incidence and Survival. 61
25917664 2015
21
Clinical approaches to treating papillary squamous cell carcinoma of the uterine cervix. 61
25348708 2014
22
PROSE scleral lens: a novel aid for staged eyelid reconstruction. 61
24317103 2014
23
Histopathologic risk factors in oral and oropharyngeal squamous cell carcinoma variants: an update with special reference to HPV-related carcinomas. 61
24880454 2014
24
Squamous cell carcinoma variants of the upper aerodigestive tract: a comprehensive review with a focus on genetic alterations. 61
24878013 2014
25
Cutaneous papillary squamous cell carcinoma. 61
24667669 2014
26
Oral papillary squamous cell carcinoma in twelve dogs. 61
24016780 2014
27
Papillary squamous cell carcinoma of antrum-clear cell variant. 61
24959058 2014
28
Papillary variant of squamous cell carcinoma arising on the gingiva: 61 cases reported from within a larger series of gingival squamous cell carcinoma. 61
23620148 2013
29
Bilateral squamous cell carcinoma of the lacrimal sac. 61
24217491 2013
30
Comparison between p16 INK4A immunohistochemistry and human papillomavirus polymerase chain reaction assay in oral papillary squamous cell carcinoma. 61
23706276 2013
31
Papillary squamous cell carcinoma of the head and neck: clinicopathologic and molecular features with special reference to human papillomavirus. 61
23797720 2013
32
CD44 expression in intraoral salivary ductal papillomas and oral papillary squamous cell carcinoma. 61
23143465 2013
33
Human papillomavirus infection and papillary squamous cell carcinoma in the head and neck region. 61
23065573 2013
34
Papillary squamous cell carcinoma of the oral mucosa: a clinicopathologic and immunohistochemical study of 12 cases and literature review. 61
22672806 2013
35
Clinical, histologic, and computed tomographic features of oral papillary squamous cell carcinoma in dogs: 9 cases (2008- 2011). 61
23757821 2013
36
Papillary squamous cell carcinoma of the trachea associated with human papillomavirus-18 infection. 61
24334586 2013
37
Pigmented viral-associated conjunctival carcinoma. 61
23762697 2013
38
Clinicopathologic features of oral squamous papilloma and papillary squamous cell carcinoma: a study of 197 patients from eastern China. 61
22627075 2012
39
HPV-related squamous cell carcinoma variants in the head and neck. 61
22782224 2012
40
Basaloid squamous cell carcinoma of the penis with papillary features: a clinicopathologic study of 12 cases. 61
22367299 2012
41
Mandibular cuniculatum carcinoma: apropos of 3 cases and literature review. 61
20665733 2012
42
[Long term results of partial laryngectomies in patients suffering from laryngeal cancer]. 61
22381015 2012
43
Papillary squamous cell carcinoma of the mandibular gingiva. 61
22977668 2012
44
Papillary squamous cell carcinoma of the head and neck: a clinicopathologic series. 61
21035908 2011
45
Papillary squamous cell carcinoma of the larynx. 61
21853426 2011
46
[Three cases of primary squamous cell carcinoma in the frontal sinus]. 61
22169549 2011
47
Papillary squamous cell carcinoma of the oral cavity with acantholytic and pseudovascular features. 61
22135728 2011
48
Tracheal squamous cell carcinoma treated endoscopically. 61
23168962 2010
49
A case of papillary squamous cell carcinoma of the uterine cervix. 61
20360420 2010
50
Papillary squamous cell carcinoma, not otherwise specified (NOS) of the penis: clinicopathologic features, differential diagnosis, and outcome of 35 cases. 61
20061934 2010

Variations for Papillary Squamous Carcinoma

Cosmic variations for Papillary Squamous Carcinoma:

9 (show top 50) (show all 5642)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM149314765 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.9829C>T p.P3277S 16:72788447-72788447 3
2 COSM149282136 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.8029G>A p.E2677K 16:72794653-72794653 3
3 COSM149268190 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.5645T>A p.I1882N 16:72797037-72797037 3
4 COSM149297301 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.9812C>T p.T3271M 16:72788464-72788464 3
5 COSM149321603 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.9964C>T p.Q3322* 16:72788312-72788312 3
6 COSM149265910 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.8849G>A p.R2950H 16:72793833-72793833 3
7 COSM149304877 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.4880C>T p.A1627V 16:72797802-72797802 3
8 COSM149298321 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.6608G>A p.R2203H 16:72796074-72796074 3
9 COSM149319996 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.151G>A p.D51N 16:72959995-72959995 3
10 COSM149306658 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.10573G>A p.G3525S 16:72787703-72787703 3
11 COSM149304885 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.4817G>A p.S1606N 16:72797865-72797865 3
12 COSM149283576 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.6910C>T p.Q2304* 16:72795772-72795772 3
13 COSM149290589 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.10826C>T p.S3609F 16:72787450-72787450 3
14 COSM149319982 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.7253C>T p.T2418I 16:72795429-72795429 3
15 COSM149304868 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.5886G>T p.E1962D 16:72796796-72796796 3
16 COSM149268207 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.308G>A p.R103H 16:72959838-72959838 3
17 COSM149304853 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.10403G>A p.R3468H 16:72787873-72787873 3
18 COSM149278204 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.2230C>T p.H744Y 16:72957916-72957916 3
19 COSM149301339 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.49G>A p.G17S 16:72960097-72960097 3
20 COSM149319969 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.10015G>C p.E3339Q 16:72788261-72788261 3
21 COSM143037377 YAP1 urinary tract,upper urinary tract,carcinoma,NS c.1260C>A p.F420L 11:102227553-102227553 3
22 COSM97252210 XRCC2 urinary tract,upper urinary tract,carcinoma,NS c.151G>A p.G51R 7:152649334-152649334 3
23 COSM101975701 XPO1 urinary tract,upper urinary tract,carcinoma,NS c.1711G>A p.E571K 2:61492337-61492337 3
24 COSM101976237 XPO1 urinary tract,upper urinary tract,carcinoma,NS c.1525C>T p.H509Y 2:61492608-61492608 3
25 COSM101979165 XPO1 urinary tract,upper urinary tract,carcinoma,NS c.2785G>A p.V929I 2:61482984-61482984 3
26 COSM101978172 XPO1 urinary tract,upper urinary tract,carcinoma,NS c.511C>A p.L171I 2:61499792-61499792 3
27 COSM101977380 XPO1 urinary tract,upper urinary tract,carcinoma,NS c.3144G>T p.E1048D 2:61478892-61478892 3
28 COSM101981172 XPO1 urinary tract,upper urinary tract,carcinoma,NS c.2668G>A p.A890T 2:61483946-61483946 3
29 COSM94290922 XIAP urinary tract,upper urinary tract,carcinoma,NS c.1003G>T p.G335* 23:123891263-123891263 3
30 COSM91378156 WT1 urinary tract,upper urinary tract,carcinoma,NS c.467G>A p.C156Y 11:32434879-32434879 3
31 COSM97137682 VEGFA urinary tract,upper urinary tract,carcinoma,NS c.1046C>T p.A349V 6:43780815-43780815 3
32 COSM97137200 VEGFA urinary tract,upper urinary tract,carcinoma,NS c.973C>T p.R325* 6:43780742-43780742 3
33 COSM85193084 U2AF1 urinary tract,upper urinary tract,carcinoma,NS c.101C>T p.S34F 21:43104346-43104346 3
34 COSM131091287 TSHR urinary tract,upper urinary tract,carcinoma,NS c.1538C>T p.T513M 14:81143596-81143596 3
35 COSM87027100 TSC2 urinary tract,upper urinary tract,carcinoma,NS c.745G>A p.V249I 16:2056740-2056740 3
36 COSM87034639 TSC2 urinary tract,upper urinary tract,carcinoma,NS c.4805A>G p.E1602G 16:2086335-2086335 3
37 COSM87028837 TSC2 urinary tract,upper urinary tract,carcinoma,NS c.4136C>T p.S1379L 16:2084358-2084358 3
38 COSM87029274 TSC2 urinary tract,upper urinary tract,carcinoma,NS c.2246G>A p.R749Q 16:2072874-2072874 3
39 COSM87035122 TSC2 urinary tract,upper urinary tract,carcinoma,NS c.3889G>A p.A1297T 16:2083700-2083700 3
40 COSM87035668 TSC2 urinary tract,upper urinary tract,carcinoma,NS c.1712T>C p.L571P 16:2065631-2065631 3
41 COSM85719362 TSC1 urinary tract,upper urinary tract,carcinoma,NS c.555C>G p.Y185* 9:132921927-132921927 3
42 COSM85723743 TSC1 urinary tract,upper urinary tract,carcinoma,NS c.1960C>T p.Q654* 9:132905618-132905618 3
43 COSM85721399 TSC1 urinary tract,upper urinary tract,carcinoma,NS c.3184C>T p.R1062W 9:132896546-132896546 3
44 COSM85719460 TSC1 urinary tract,upper urinary tract,carcinoma,NS c.2117G>A p.R706H 9:132903742-132903742 3
45 COSM85722323 TSC1 urinary tract,upper urinary tract,carcinoma,NS c.2781G>T p.K927N 9:132897455-132897455 3
46 COSM85719081 TSC1 urinary tract,upper urinary tract,carcinoma,NS c.1546C>T p.Q516* 9:132906032-132906032 3
47 COSM90142767 TRAF7 urinary tract,upper urinary tract,carcinoma,NS c.463G>A p.A155T 16:2171593-2171593 3
48 COSM90143130 TRAF7 urinary tract,upper urinary tract,carcinoma,NS c.448T>C p.F150L 16:2171578-2171578 3
49 COSM90143141 TRAF7 urinary tract,upper urinary tract,carcinoma,NS c.565C>T p.R189W 16:2172280-2172280 3
50 COSM90141465 TRAF7 urinary tract,upper urinary tract,carcinoma,NS c.331G>A p.E111K 16:2170713-2170713 3

Expression for Papillary Squamous Carcinoma

Search GEO for disease gene expression data for Papillary Squamous Carcinoma.

Pathways for Papillary Squamous Carcinoma

Pathways related to Papillary Squamous Carcinoma according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.59 MAPK8IP2 MAPK8IP1 ERBB3 EGFR

GO Terms for Papillary Squamous Carcinoma

Biological processes related to Papillary Squamous Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.33 MAPK8IP2 MAPK8IP1 EGFR
2 positive regulation of endocytosis GO:0045807 8.96 MAPK8IP2 MAPK8IP1
3 regulation of JNK cascade GO:0046328 8.8 MAPK8IP2 MAPK8IP1 EGFR

Molecular functions related to Papillary Squamous Carcinoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.26 MAPK8IP2 MAPK8IP1 EGFR CDKN2A
2 MAP-kinase scaffold activity GO:0005078 8.62 MAPK8IP2 MAPK8IP1

Sources for Papillary Squamous Carcinoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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