Pulmonary Neuroendocrine Tumor

Categories: Cancer diseases, Respiratory diseases, Neuronal diseases

Aliases & Classifications for Pulmonary Neuroendocrine Tumor

MalaCards integrated aliases for Pulmonary Neuroendocrine Tumor:

Name: Pulmonary Neuroendocrine Tumor 12 14
Neuroendocrine Neoplasm of Lung 69


External Ids:

Disease Ontology 12 DOID:5410
NCIt 47 C5670
SNOMED-CT 64 707594002
UMLS 69 C1334452

Summaries for Pulmonary Neuroendocrine Tumor

MalaCards based summary : Pulmonary Neuroendocrine Tumor, also known as neuroendocrine neoplasm of lung, is related to neuroendocrine tumor and caroli disease. An important gene associated with Pulmonary Neuroendocrine Tumor is DLL3 (Delta Like Canonical Notch Ligand 3), and among its related pathways/superpathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include lung, brain and liver, and related phenotypes are growth/size/body region and mortality/aging

Wikipedia : 72 Pulmonary neuroendocrine tumors are neuroendocrine tumors localized to the lung: bronchus or pulmonary... more...

Related Diseases for Pulmonary Neuroendocrine Tumor

Diseases related to Pulmonary Neuroendocrine Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 neuroendocrine tumor 10.3
2 caroli disease 9.8 ASCL1 NEUROD1
3 leukemia 9.6
4 cushing's syndrome 9.6
5 acromegaly 9.6
6 thyroiditis 9.6
7 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia 9.6
8 lung combined type small cell carcinoma 7.6 ASCL1 BCOR DLL3 NEUROD1 NFIB

Graphical network of the top 20 diseases related to Pulmonary Neuroendocrine Tumor:

Diseases related to Pulmonary Neuroendocrine Tumor

Symptoms & Phenotypes for Pulmonary Neuroendocrine Tumor

MGI Mouse Phenotypes related to Pulmonary Neuroendocrine Tumor:

id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.65 DLL3 NEUROD1 NFIB ASCL1 BCOR
2 mortality/aging MP:0010768 9.55 ASCL1 BCOR DLL3 NEUROD1 NFIB
3 nervous system MP:0003631 9.35 ASCL1 BCOR DLL3 NEUROD1 NFIB
4 vision/eye MP:0005391 8.92 ASCL1 DLL3 NEUROD1 NFIB

Drugs & Therapeutics for Pulmonary Neuroendocrine Tumor

Drugs for Pulmonary Neuroendocrine Tumor (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 181)
id Name Status Phase Clinical Trials Cas Number PubChem Id
Everolimus Approved Phase 4,Phase 3,Phase 1,Phase 2 159351-69-6 6442177
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 22916-47-8 4189
Paclitaxel Approved, Vet_approved Phase 4,Phase 1,Phase 2 33069-62-4 36314
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 53123-88-9 5284616 6436030 46835353
Carboplatin Approved Phase 4,Phase 2,Phase 1 41575-94-4 10339178 498142 38904
6 Pancreatic Polypeptide Investigational Phase 4,Phase 2,Phase 3,Phase 1 59763-91-6
7 Liver Extracts Phase 4,Phase 3,Phase 2,Phase 1
8 Albumin-Bound Paclitaxel Phase 4,Phase 1,Phase 2
9 Anti-Bacterial Agents Phase 4,Phase 3,Phase 1,Phase 2
10 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 1,Phase 2
11 Antifungal Agents Phase 4,Phase 3,Phase 1,Phase 2
12 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2
13 Antimitotic Agents Phase 4,Phase 1,Phase 2
14 Antineoplastic Agents, Phytogenic Phase 4,Phase 1,Phase 2
15 Immunosuppressive Agents Phase 4,Phase 2,Phase 3,Phase 1
Bevacizumab Approved, Investigational Phase 2, Phase 3 216974-75-3
Fluorouracil Approved Phase 2, Phase 3 51-21-8 3385
Levoleucovorin Approved Phase 2, Phase 3 68538-85-2
Oxaliplatin Approved, Investigational Phase 2, Phase 3 61825-94-3 5310940 9887054 43805 6857599
Tranexamic Acid Approved Phase 3 1197-18-8 5526
Somatostatin Approved Phase 3,Phase 2,Phase 1,Early Phase 1 38916-34-6, 51110-01-1 53481605
Doxorubicin Approved, Investigational Phase 3,Phase 1 23214-92-8 31703
Ifosfamide Approved Phase 3 3778-73-2 3690
Lenograstim Approved Phase 3 135968-09-1
Octreotide Approved, Investigational Phase 3,Phase 2,Phase 1 83150-76-9 383414 6400441
26 lanreotide Approved Phase 3,Phase 2,Early Phase 1 108736-35-2
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
leucovorin Approved, Nutraceutical Phase 2, Phase 3 58-05-9 143 6006
Doxil Approved June 1999 Phase 3,Phase 1 31703
30 Angiogenesis Inhibitors Phase 2, Phase 3,Phase 1
31 Angiogenesis Modulating Agents Phase 2, Phase 3,Phase 1
32 Antimetabolites Phase 2, Phase 3,Phase 1
33 Antimetabolites, Antineoplastic Phase 2, Phase 3,Phase 1
34 Antifibrinolytic Agents Phase 3
35 Coagulants Phase 3
36 Hemostatics Phase 3
37 Hormone Antagonists Phase 3,Phase 2,Phase 1,Early Phase 1
38 Hormones Phase 3,Phase 2,Phase 1,Early Phase 1
39 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Phase 1,Early Phase 1
40 Alkylating Agents Phase 3,Phase 2,Phase 1
41 Isophosphamide mustard Phase 3
42 Topoisomerase Inhibitors Phase 3,Phase 2,Phase 1
43 Pharmaceutical Solutions Phase 3,Phase 2,Phase 1
44 Angiopeptin Phase 3,Phase 2,Early Phase 1
45 Folate Nutraceutical Phase 2, Phase 3
46 Vitamin B9 Nutraceutical Phase 2, Phase 3
Pancrelipase Approved Phase 1, Phase 2 53608-75-6
Cisplatin Approved Phase 2,Phase 1 15663-27-1 84093 441203 2767
Gemcitabine Approved Phase 2 95058-81-4 60750
Xylometazoline Approved Phase 2 526-36-3 5709

Interventional clinical trials:

(show top 50) (show all 159)

id Name Status NCT ID Phase Drugs
1 Disease-Specific Questionnaire in Assessing Quality of Life in Patients With Gastrointestinal-Related Neuroendocrine Tumors Unknown status NCT00454376 Phase 4
2 RAD001 With Paclitaxel and Carboplatin in First Line Treatment of Patients With Advanced Large Cell Lung Cancer With Neuroendocrine Differentiation Completed NCT01317615 Phase 4 RAD001;Paclitaxel;Carboplatin
3 Extension Study to the Open-label, Multi-center, Expanded Access Study of Everolimus in Patients With Advanced Neuroendocrine Tumors Completed NCT01595009 Phase 4 RAD001
4 Combination Chemotherapy and Bevacizumab in Treating Patients With Advanced Neuroendocrine Tumors Unknown status NCT00227617 Phase 2, Phase 3 5-fluorouracil;leucovorin;oxaliplatin
5 The Role of Inhalations of Tranexamic Acid in Patients With Hemoptysis Unknown status NCT01496196 Phase 3 tranexamic acid;tranexamic acid
6 Surgery With or Without Combination Chemotherapy in Treating Patients With Lung Metastases From Soft Tissue Sarcoma Completed NCT00002764 Phase 3 doxorubicin hydrochloride;ifosfamide
7 Efficacy and Safety of Lanreotide Autogel/ Depot 120 mg vs. Placebo in Subjects With Lung Neuroendocrine Tumors Recruiting NCT02683941 Phase 3 Lanreotide (Autogel formulation);Placebo
8 ImmuniCell® in Patients With Advanced Cancers Recruiting NCT02459067 Phase 2, Phase 3
9 Everolimus Plus Best Supportive Care vs Placebo Plus Best Supportive Care in the Treatment of Patients With Advanced Neuroendocrine Tumors (GI or Lung Origin) Active, not recruiting NCT01524783 Phase 3 Everolimus;Everolimus Placebo
10 Systemic Therapy With or Without Upfront Transarterial Embolization for Inoperable Liver Metastasis of Neuroendocrine Tumors Terminated NCT01755182 Phase 3 approved pharmacologic therapy
11 Safety and Tolerability Profile of RAD001 Daily in Chinese Patients With Advanced Pulmonary Neuroendocrine Tumor Unknown status NCT01175096 Phase 1, Phase 2 RAD001 (everolimus, Afinitor®)
12 Imaging Study in Patients With Cancer of the Head & Neck, Lung, Renal Cell, Brain, Lymphoma and Neuroendocrine Tumours Unknown status NCT00323076 Phase 1, Phase 2 18F-FAZA PET Imaging
13 177Lutetium-DOTA-Octreotate Therapy in Somatostatin Receptor-Expressing Neuroendocrine Neoplasms Unknown status NCT01237457 Phase 2 177Lu-DOTATATE
14 A Study to Demonstrate the Safety and Preliminary Efficacy of 18F-FLT in Patients With Solid Tumours or Lymphoma Unknown status NCT01065805 Phase 1, Phase 2
15 Hyperthermia/Thermal Therapy With Chemotherapy to Treat Inoperable or Metastatic Tumors Unknown status NCT00178698 Phase 2 Cisplatin, Gemcitabine, Interferon-a
16 Combination Therapy of F16IL2 and Paclitaxel in Solid Tumour Patients Unknown status NCT01134250 Phase 1, Phase 2 F16IL2 in combination with paclitaxel
17 Fluorouracil Plus Interferon Alfa in Treating Patients With Advanced Metastatic Carcinoid Tumors Completed NCT00002470 Phase 2 fluorouracil
18 KPT-330 to Treat Poorly Differentiated Lung and Gastroenteropancreatic Tumors Completed NCT02250885 Phase 2 Selinexor
19 Study of Hsp90 Inhibitor, STA-9090 for Relapsed or Refractory Small Cell Lung Cancer Completed NCT01173523 Phase 2 STA-9090
20 Thalidomide in Treating Patients With Metastatic Neuroendocrine Tumors Completed NCT00027638 Phase 2 thalidomide
21 Temsirolimus in Treating Patients With Metastatic Neuroendocrine Carcinoma Completed NCT00093782 Phase 2 temsirolimus
22 Radiofrequency Ablation in Treating Patients With Refractory or Advanced Lung Cancer Completed NCT00024076 Phase 2
23 ISIS 3521 in Treating Patients With Advanced, Unresectable, or Metastatic Non-small Cell Lung Cancer or Unresectable or Metastatic Melanoma Completed NCT00003989 Phase 2
24 Study to Evaluate the Efficacy and Safety of Temozolomide in Subjects With Brain Metastases of Either Malignant Melanoma, Breast, or Non-small Cell Lung Cancer (P02064) Completed NCT00831545 Phase 2 Temozolomide
25 A Broad Multi-histology Phase II Study of the Multi-Kinase Inhibitor R935788 (Fostamatinib Disodium) in Advanced Colorectal, Non-small Cell Lung, Head and Neck Hepatocellular and Renal Cell Carcinomas, and Pheochromocytoma and Thyroid Tumors (Multi-H... Completed NCT00923481 Phase 2 Fostamatinib disodium
26 Study of Aerosolized Sargramostim in Treating Patients With Melanoma Metastatic to the Lung Completed NCT00005610 Phase 2
27 Pazopanib Hydrochloride in Treating Patients With Advanced Neuroendocrine Cancer Completed NCT00454363 Phase 2 Pazopanib Hydrochloride
28 Vaccine Therapy Plus Biological Therapy in Treating Adults With Metastatic Solid Tumors Completed NCT00019331 Phase 2 DetoxPC
29 Study to Assess Safety, Pharmacokinetics, and Efficacy of Oral CC-223 for Patients With Advanced Solid Tumors, Non-Hodgkin Lymphoma or Multiple Myeloma Completed NCT01177397 Phase 1, Phase 2 CC-223
30 Docetaxel in Treating Patients With Solid Tumors Completed NCT00003565 Phase 2 docetaxel
31 Temsirolimus and Bevacizumab in Treating Patients With Advanced Endometrial, Ovarian, Liver, Carcinoid, or Islet Cell Cancer Completed NCT01010126 Phase 2 Temsirolimus
32 Cyclophosphamide Plus Vaccine Therapy in Treating Patients With Advanced Cancer Completed NCT00002475 Phase 2 cyclophosphamide
33 RRx-001 in Small, Non-small Cell Lung Cancer, Ovarian Cancer and Neuroendocrine Tumors Prior to Re-administration of Platinum Based Doublet Regimens (QUADRUPLE THREAT) Recruiting NCT02489903 Phase 2 RRx-001;Cisplatin/carboplatin plus albumin (nab-paclitaxel or Abraxane);cisplatin/carboplatin plus etoposide;carboplatin/paclitaxel.
34 Durvalumab (MEDI4736) Plus Tremelimumab for Advanced Neuroendocrine Neoplasms of Gastroenteropancreatic or Lung Origin Recruiting NCT03095274 Phase 2 Durvalumab;Tremelimumab
35 PEN-221 in Somatostatin Receptor 2 Expressing Advanced Cancers Including Neuroendocrine and Small Cell Lung Cancers Recruiting NCT02936323 Phase 1, Phase 2 PEN-221
36 Efficacy and Safety of Lanreotide Autogel (ATG) in Combination With Temozolomide in Subjects With Thoracic Neuroendocrine Tumors. Recruiting NCT02698410 Phase 2 Lanreotide (Autogel formulation) and Temozolomide
37 A Study of Pembrolizumab in Patients With Neuroendocrine Tumors Recruiting NCT02939651 Phase 2 Pembrolizumab
38 Phase II Study of Ibrutinib in Advanced Carcinoid and Pancreatic Neuroendocrine Tumors Recruiting NCT02575300 Phase 2 Ibrutinib
39 Regorafenib in Treating Patients With Advanced or Metastatic Neuroendocrine Tumors Recruiting NCT02259725 Phase 2 regorafenib
40 Clinical Trial of Lurbinectedin (PM01183) in Selected Advanced Solid Tumors Recruiting NCT02454972 Phase 2 lurbinectedin (PM01183)
41 Docetaxel With or Without Low-dose, Short Course Sunitinib in Refractory Solid Tumors Recruiting NCT01803503 Phase 2 Docetaxel;Sunitinib
42 uPAR-PET for Prognostication in Patients With Non-small Cell Lung Cancer, Malignant Pleural Mesothelioma and Large Cell Neuroendocrine Carcinoma of the Lung Recruiting NCT02755675 Phase 2
43 Study of Everolimus as Maintenance Therapy for Metastatic NEC With Pulmonary or Gastroenteropancreatic Origin Recruiting NCT02687958 Phase 2 Everolimus
44 Basket Study of Entrectinib (RXDX-101) for the Treatment of Patients With Solid Tumors Harboring NTRK 1/2/3 (Trk A/B/C), ROS1, or ALK Gene Rearrangements (Fusions) Recruiting NCT02568267 Phase 2 Entrectinib
45 Study of HBI-8000 With Nivolumab in Melanoma, Renal Cell Carcinoma and Non-Small Cell Lung Cancer Recruiting NCT02718066 Phase 1, Phase 2 HBI-8000 in combination with nivolumab
46 A Study of Abemaciclib (LY2835219) in Participants With Breast Cancer, Non-small Cell Lung Cancer, or Melanoma That Has Spread to the Brain Recruiting NCT02308020 Phase 2 Abemaciclib
47 Image Guided Hypofractionated Radiation Therapy, Nelfinavir Mesylate, and Nivolumab in Treating Patients With Advanced Melanoma, Lung, or Kidney Cancer Recruiting NCT03050060 Phase 2 Nelfinavir Mesylate
48 MK-3475 in Melanoma and NSCLC Patients With Brain Metastases Recruiting NCT02085070 Phase 2 MK-3475
49 Pembrolizumab Plus Bevacizumab for Treatment of Brain Metastases in Metastatic Melanoma or Non-small Cell Lung Cancer Recruiting NCT02681549 Phase 2 Pembrolizumab plus Bevacizumab
50 Ph1b/2 Dose-Escalation Study of Entinostat With Pembrolizumab in NSCLC With Expansion Cohorts in NSCLC, Melanoma, and Colorectal Cancer Recruiting NCT02437136 Phase 1, Phase 2 entinostat;pembrolizumab

Search NIH Clinical Center for Pulmonary Neuroendocrine Tumor

Genetic Tests for Pulmonary Neuroendocrine Tumor

Anatomical Context for Pulmonary Neuroendocrine Tumor

MalaCards organs/tissues related to Pulmonary Neuroendocrine Tumor:

Lung, Brain, Liver, Prostate, Kidney, Thyroid, Breast

Publications for Pulmonary Neuroendocrine Tumor

Articles related to Pulmonary Neuroendocrine Tumor:

(show all 28)
id Title Authors Year
Pulmonary neuroendocrine tumor in a female wolf (Canis lupus lupus). ( 28190820 )
Hypermethylation of adjacent CpG sites is negatively correlated with the expression of lineage oncogene ASCL1 in pulmonary neuroendocrine tumors. ( 28621224 )
Acromegaly in a patient with a pulmonary neuroendocrine tumor: case report and review of current literature. ( 27349224 )
Co-expression of TTF-1 and neuroendocrine markers in the human fetal lung and pulmonary neuroendocrine tumors. ( 25722034 )
A DLL3-targeted antibody-drug conjugate eradicates high-grade pulmonary neuroendocrine tumor-initiating cells in vivo. ( 26311731 )
Cowden Syndrome and Concomitant Pulmonary Neuroendocrine Tumor: A Presentation of Two Cases. ( 26798346 )
Carbonic anhydrase II mediates malignant behavior of pulmonary neuroendocrine tumors. ( 25019941 )
Pulmonary neuroendocrine tumor incidentally detected by (18)F-CH PET/CT. ( 23446117 )
Promyelocytic leukemia zinc finger and histone H1.5 differentially stain low- and high-grade pulmonary neuroendocrine tumors: a pilot immunohistochemical study. ( 23416030 )
A rare case of synchronous bilateral pulmonary neuroendocrine tumor detected by 68Ga-DOTANOC PET/CT. ( 22391733 )
Altered expression of microRNA miR-21, miR-155, and let-7a and their roles in pulmonary neuroendocrine tumors. ( 22924844 )
Expression of 4F2hc (CD98) in pulmonary neuroendocrine tumors. ( 21750865 )
Specific expression of ZO-1 and N-cadherin in rosette structures of various tumors: possible recapitulation of neural tube formation in embryogenesis and utility as a potentially novel immunohistochemical marker of rosette formation in pulmonary neuroendocrine tumors. ( 21785870 )
Atypical carcinoid with prominent mucinous stroma: a hitherto unreported variant of pulmonary neuroendocrine tumor. ( 20195926 )
[Expression and clinicopathologic significance of human achaete-scute homolog 1 in pulmonary neuroendocrine tumors]. ( 20677557 )
Downregulation of drs tumor suppressor gene in highly malignant human pulmonary neuroendocrine tumors. ( 19424611 )
Immunohistochemical expression of estrogen and progesterone receptors in primary pulmonary neuroendocrine tumors. ( 19061285 )
Thymidylate synthase expression in gastroenteropancreatic and pulmonary neuroendocrine tumors. ( 18281538 )
Telomere length, telomerase activity, and expressions of human telomerase mRNA component (hTERC) and human telomerase reverse transcriptase (hTERT) mRNA in pulmonary neuroendocrine tumors. ( 17060405 )
Long-term quiescence of ectopic Cushing's syndrome caused by pulmonary neuroendocrine tumor (typical carcinoid) and tumorlets: spontaneous remission or therapeutic effect of bromocriptine? ( 16699304 )
Alteration of the E-cadherin/beta-catenin cell adhesion system is common in pulmonary neuroendocrine tumors and is an independent predictor of lymph node metastasis in atypical carcinoids. ( 15712207 )
Identification of carboxypeptidase E and gamma-glutamyl hydrolase as biomarkers for pulmonary neuroendocrine tumors by cDNA microarray. ( 15492986 )
Divergent cyclin B1 expression and Rb/p16/cyclin D1 pathway aberrations among pulmonary neuroendocrine tumors. ( 15154011 )
hASH1 expression is closely correlated with endocrine phenotype and differentiation extent in pulmonary neuroendocrine tumors. ( 14657947 )
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia as a precursor to pulmonary neuroendocrine tumors. ( 15136447 )
Thyroid transcription factor-1: immunohistochemical evaluation in pulmonary neuroendocrine tumors. ( 9950155 )
Analysis of p53, K-ras-2, and C-raf-1 in pulmonary neuroendocrine tumors. Correlation with histological subtype and clinical outcome. ( 8623922 )
Immunoreactive somatostatin and calcitonin in pulmonary neuroendocrine tumor. ( 2866833 )

Variations for Pulmonary Neuroendocrine Tumor

Expression for Pulmonary Neuroendocrine Tumor

Search GEO for disease gene expression data for Pulmonary Neuroendocrine Tumor.

Pathways for Pulmonary Neuroendocrine Tumor

GO Terms for Pulmonary Neuroendocrine Tumor

Cellular components related to Pulmonary Neuroendocrine Tumor according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor complex GO:0090575 8.62 ASCL1 NEUROD1

Biological processes related to Pulmonary Neuroendocrine Tumor according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.76 ASCL1 BCOR NEUROD1 NFIB
2 transcription, DNA-templated GO:0006351 9.71 ASCL1 BCOR NEUROD1 NFIB
3 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.65 ASCL1 NEUROD1 NFIB
4 cell differentiation GO:0030154 9.61 ASCL1 DLL3 NEUROD1
5 Notch signaling pathway GO:0007219 9.37 ASCL1 DLL3
6 positive regulation of neuron differentiation GO:0045666 9.32 ASCL1 NEUROD1
7 neuron development GO:0048666 9.26 ASCL1 NEUROD1
8 neurogenesis GO:0022008 9.16 ASCL1 NEUROD1
9 hindbrain development GO:0030902 8.96 NEUROD1 NFIB
10 glial cell differentiation GO:0010001 8.62 ASCL1 NFIB

Molecular functions related to Pulmonary Neuroendocrine Tumor according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.5 ASCL1 NEUROD1 NFIB
2 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.33 ASCL1 NEUROD1 NFIB
3 protein dimerization activity GO:0046983 9.26 ASCL1 NEUROD1
4 E-box binding GO:0070888 8.96 ASCL1 NEUROD1
5 double-stranded DNA binding GO:0003690 8.8 ASCL1 NEUROD1 NFIB

Sources for Pulmonary Neuroendocrine Tumor

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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