MCID: GLM004
MIFTS: 53

Gliomatosis Cerebri

Categories: Rare diseases, Cancer diseases, Neuronal diseases

Aliases & Classifications for Gliomatosis Cerebri

MalaCards integrated aliases for Gliomatosis Cerebri:

Name: Gliomatosis Cerebri 12 72 49 55 51 14 69
Neoplasms, Neuroepithelial 41
Astrocytosis Cerebri 12

Characteristics:

Orphanet epidemiological data:

55
gliomatosis cerebri
Inheritance: Not applicable; Age of onset: Adult;

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:6128
MeSH 41 D018302
NCIt 46 C4318
SNOMED-CT 64 26138003
Orphanet 55 ORPHA251582
UMLS via Orphanet 70 C0334576
ICD10 via Orphanet 33 C71.0
UMLS 69 C0334576

Summaries for Gliomatosis Cerebri

NIH Rare Diseases : 49 Gliomatosis cerebri is a type of malignant (cancerous) brain tumor called a glioblastoma that develops from a specific type of brain cell called an astrocyte. It involves at least three sections (lobes) within the main part of the brain (cerebrum). It may also affect both sides of the cerebrum as well as the nerve cells within the brain (grey matter). There are two types of gliomatosis cerebri. Type 1 (classic form) is characterized by scattered and widespread tumor cells and no apparent mass or tumor, while type 2 has similar characteristics in addition to a detectable mass or tumor. Signs and symptoms of gliomatosis cerebri may include personality changes, memory disturbance, headaches, and seizures. Because this type of cancer can be found in many areas of the brain, it can be challenging to treat. Treatment might include surgery to remove areas of the brain affected (when possible), radiation therapy, and chemotherapy. Last updated: 7/21/2016

MalaCards based summary : Gliomatosis Cerebri, also known as neoplasms, neuroepithelial, is related to glioma susceptibility 1 and glioma, and has symptoms including sensory manifestations, seizures and headache. An important gene associated with Gliomatosis Cerebri is GFAP (Glial Fibrillary Acidic Protein), and among its related pathways/superpathways are GAB1 signalosome and Phospholipase-C Pathway. The drugs Valproic Acid and Temozolomide have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and pituitary, and related phenotypes are Increased cell death HMECs cells and digestive/alimentary

Wikipedia : 72 Gliomatosis cerebri (infiltrative diffuse astrocytosis) is a rare primary brain tumor. It is commonly... more...

Related Diseases for Gliomatosis Cerebri

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

(show top 50) (show all 179)
# Related Disease Score Top Affiliating Genes
1 glioma susceptibility 1 30.6 IDH1 TP53
2 glioma 29.3 EGFR IDH1 MDM2 PTEN TP53
3 glioblastoma 29.3 EGFR IDH1 MDM2 PTEN TP53
4 medulloblastoma 29.1 GFAP NES TP53
5 hydrocephalus 29.0 GFAP NES PTEN TP53
6 glioblastoma multiforme 27.7 EGFR GFAP IDH1 MDM2 NES PTEN
7 astrocytoma 27.4 EGFR GFAP IDH1 MDM2 NES PTEN
8 extraventricular neurocytoma 10.4 GFAP IDH1
9 angiocentric glioma 10.4 GFAP IDH1
10 gemistocytic astrocytoma 10.4 GFAP PTEN
11 gangliocytoma 10.4 GFAP PTEN
12 intracranial chondrosarcoma 10.4 IDH1 TP53
13 cerebellar astrocytoma 10.4 IDH1 TP53
14 adult astrocytic tumour 10.4 IDH1 PTEN
15 frontal convexity meningioma 10.4 GFAP TP53
16 gliofibroma 10.4 GFAP TP53
17 cerebellopontine angle tumor 10.4 GFAP IDH1
18 cerebral convexity meningioma 10.4 GFAP TP53
19 protoplasmic astrocytoma 10.4 GFAP TP53
20 cellular ependymoma 10.4 GFAP TP53
21 cerebral neuroblastoma 10.3 GFAP TP53
22 spinal cancer 10.3 GFAP TP53
23 chordoid glioma 10.3 GFAP TP53
24 cerebral ventricle cancer 10.3 GFAP TP53
25 cerebrum cancer 10.3 GFAP TP53
26 supratentorial cancer 10.3 GFAP TP53
27 malignant ependymoma 10.3 GFAP TP53
28 female reproductive endometrioid cancer 10.3 PTEN TP53
29 anaplastic oligodendroglioma 10.3 EGFR IDH1
30 papilloma of choroid plexus 10.3 GFAP TP53
31 synchronous bilateral breast carcinoma 10.3 PTEN TP53
32 inflammatory mfh 10.3 GFAP MDM2
33 periosteal chondrosarcoma 10.3 IDH1 MDM2
34 choroid plexus cancer 10.3 GFAP TP53
35 necrotizing sialometaplasia 10.3 GFAP TP53
36 cystic teratoma 10.3 GFAP TP53
37 bladder squamous cell carcinoma 10.3 PTEN TP53
38 cowden syndrome 1 10.3 EGFR PTEN
39 cerebellar liponeurocytoma 10.3 GFAP TP53
40 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 10.3 PTEN TP53
41 tumor suppressor gene on chromosome 11 10.3 EGFR PTEN
42 brain ependymoma 10.3 EGFR TP53
43 ring chromosome 7 10.3 MDM2 TP53
44 encephalitis 10.2
45 actinic cheilitis 10.2 MDM2 TP53
46 squamous cell carcinoma of the larynx 10.2 EGFR TP53
47 sclerosing liposarcoma 10.2 MDM2 TP53
48 lip cancer 10.2 MDM2 TP53
49 bile duct adenocarcinoma 10.2 IDH1 TP53
50 brain stem glioma 10.2 EGFR TP53

Graphical network of the top 20 diseases related to Gliomatosis Cerebri:



Diseases related to Gliomatosis Cerebri

Symptoms & Phenotypes for Gliomatosis Cerebri

UMLS symptoms related to Gliomatosis Cerebri:


sensory manifestations, seizures, headache

GenomeRNAi Phenotypes related to Gliomatosis Cerebri according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death HMECs cells GR00103-A-0 8.92 EGFR MDM2 PTEN TP53

MGI Mouse Phenotypes related to Gliomatosis Cerebri:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.65 PTEN TP53 EGFR GFAP MDM2
2 muscle MP:0005369 9.55 PTEN TP53 EGFR GFAP MDM2
3 normal MP:0002873 9.43 TP53 EGFR GFAP INA MDM2 PTEN
4 pigmentation MP:0001186 8.92 PTEN TP53 EGFR MDM2

Drugs & Therapeutics for Gliomatosis Cerebri

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

(show top 50) (show all 86)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic Acid Approved, Investigational Phase 3,Phase 2 99-66-1 3121
2
Temozolomide Approved, Investigational Phase 3,Phase 2 85622-93-1 5394
3
chloroquine Approved, Investigational, Vet_approved Phase 3 54-05-7 2719
4
Dacarbazine Approved, Investigational Phase 3 4342-03-4 5351166
5
Histamine Approved, Investigational Phase 3 51-45-6, 75614-87-8 774
6
Cyproheptadine Approved Phase 3 129-03-3 2913
7 Dermatologic Agents Phase 3,Phase 1
8 Alkylating Agents Phase 3,Phase 2
9 Central Nervous System Depressants Phase 3,Phase 2
10 GABA Agents Phase 3,Phase 2
11 Neurotransmitter Agents Phase 3,Phase 2
12 Tranquilizing Agents Phase 3,Phase 2
13 Anticonvulsants Phase 3,Phase 2
14 Antimanic Agents Phase 3,Phase 2
15 Psychotropic Drugs Phase 3,Phase 2
16 Anti-Infective Agents Phase 3,Phase 2
17 Chloroquine diphosphate Phase 3 50-63-5
18 Analgesics Phase 3
19 Analgesics, Non-Narcotic Phase 3
20 Anthelmintics Phase 3
21 Peripheral Nervous System Agents Phase 3,Phase 1
22 Pharmaceutical Solutions Phase 3
23 Antimalarials Phase 3
24 Anti-Inflammatory Agents Phase 3,Phase 1
25 Anti-Inflammatory Agents, Non-Steroidal Phase 3
26 Antiprotozoal Agents Phase 3
27 Antiparasitic Agents Phase 3
28 Antirheumatic Agents Phase 3
29
Histamine Phosphate Phase 3 51-74-1 65513
30
Serotonin Phase 3 50-67-9 5202
31 Serotonin Agents Phase 3
32 Serotonin Antagonists Phase 3
33 Gastrointestinal Agents Phase 3,Phase 1
34 Histamine Antagonists Phase 3
35 Histamine H1 Antagonists Phase 3
36 Anti-Allergic Agents Phase 3
37 Antipruritics Phase 3
38
Gefitinib Approved, Investigational Phase 1, Phase 2 184475-35-2 123631
39
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
40
nivolumab Approved Phase 2 946414-94-4
41
Dexamethasone Approved, Investigational, Vet_approved Phase 2,Phase 1 50-02-2 5743
42
Acetaminophen Approved Phase 2 103-90-2 1983
43
Iodine Approved, Investigational Phase 2 7553-56-2 807
44
Diphenhydramine Approved, Investigational Phase 2 58-73-1, 147-24-0 3100
45
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
46
Promethazine Approved, Investigational Phase 2 60-87-7 4927
47
Crizotinib Approved Phase 1, Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
48
Bevacizumab Approved, Investigational Phase 2 216974-75-3
49 tannic acid Approved, Nutraceutical Phase 2
50
Doxil Approved June 1999 Phase 2 31703

Interventional clinical trials:

(show all 14)

# Name Status NCT ID Phase Drugs
1 International Cooperative Phase III Trial of the HIT-HGG Study Group (HIT-HGG-2013) Not yet recruiting NCT03243461 Phase 3 Temozolomide + Valproic Acid;Temozolomide + Chloroquine
2 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
3 Gefitinib and Radiation Therapy in Treating Children With Newly Diagnosed Gliomas Completed NCT00042991 Phase 1, Phase 2 gefitinib
4 Prolonged Exposure to Doxorubicin in Patients With Glioblastoma Multiforme and Diffuse Intrinsic Pontine Glioma Recruiting NCT02758366 Phase 2 Doxorubicin
5 Immune Checkpoint Inhibitor Nivolumab in People With Select Rare CNS Cancers Recruiting NCT03173950 Phase 2 Nivolumab
6 Valproic Acid and Radiation Followed by Maintenance Valproic Acid and Bevacizumab in Children With High Grade Gliomas or Diffuse Intrinsic Pontine Glioma Active, not recruiting NCT00879437 Phase 2 Valproic acid;Bevacizumab
7 Iodine I 131 Monoclonal Antibody 3F8 in Treating Patients With Central Nervous System Cancer or Leptomeningeal Cancer Active, not recruiting NCT00445965 Phase 2
8 Crizotinib in Treating Young Patients With Relapsed or Refractory Solid Tumors or Anaplastic Large Cell Lymphoma Active, not recruiting NCT00939770 Phase 1, Phase 2 crizotinib
9 Photodynamic Therapy With Porfimer Sodium in Treating Patients With Refractory Brain Tumors Unknown status NCT00002647 Phase 1 verteporfin
10 Imetelstat Sodium in Treating Young Patients With Refractory or Recurrent Solid Tumors or Lymphoma Completed NCT01273090 Phase 1 imetelstat sodium
11 Palbociclib Isethionate in Treating Younger Patients With Recurrent, Progressive, or Refractory Central Nervous System Tumors Recruiting NCT02255461 Phase 1 palbociclib isethionate
12 Oncolytic HSV-1716 in Treating Younger Patients With Refractory or Recurrent High Grade Glioma That Can Be Removed By Surgery Terminated NCT02031965 Phase 1 dexamethasone
13 18F-FDOPA PET/CT or PET/MRI in Measuring Tumors in Patients With Newly-Diagnosed or Recurrent Gliomas Terminated NCT02175745 18F-fluoro-dihydroxyphenylalanine
14 Efficacy of 68Ga-DOTATOC Positron Emission Tomography (PET) CT in Children and Young Adults With Brain Tumors Withdrawn NCT02194452

Search NIH Clinical Center for Gliomatosis Cerebri

Cochrane evidence based reviews: neoplasms, neuroepithelial

Genetic Tests for Gliomatosis Cerebri

Anatomical Context for Gliomatosis Cerebri

MalaCards organs/tissues related to Gliomatosis Cerebri:

38
Brain, Spinal Cord, Pituitary

Publications for Gliomatosis Cerebri

Articles related to Gliomatosis Cerebri:

(show top 50) (show all 236)
# Title Authors Year
1
Molecular alterations in pediatric gliomatosis cerebri are similar to those in less invasive forms of pediatric diffuse glioma. ( 28421462 )
2017
2
Gliomatosis cerebri in a 10-year-old male patient. ( 28484570 )
2017
3
Management and Survival Patterns of Patients with Gliomatosis Cerebri: A SEER-Based Analysis. ( 28366748 )
2017
4
An Adolescent Presenting With Seizures as a Symptom of Gliomatosis Cerebri. ( 28486262 )
2017
5
Bevacizumab for Patients with Recurrent Gliomas Presenting with a Gliomatosis Cerebri Growth Pattern. ( 28353668 )
2017
6
Gliomatosis cerebri: Prognosis based on current molecular markers. ( 28539209 )
2017
7
Magnetic resonance imaging features of canine gliomatosis cerebri. ( 29110365 )
2017
8
Gliomatosis Cerebri: Current Understanding and Controversies. ( 28824876 )
2017
9
Gliomatosis cerebri: A consensus summary report from the First International Gliomatosis cerebri Group Meeting, March 26-27, 2015, Paris, France. ( 27466787 )
2016
10
Gliomatosis Cerebri in the Brain of a Cat. ( 29056722 )
2016
11
Gliomatosis cerebri in children shares molecular characteristics with other pediatric gliomas. ( 26744350 )
2016
12
Gliomatosis cerebri: no evidence for a separate brain tumor entity. ( 26493382 )
2016
13
Nanostructured lipid carriers based temozolomide and gene co-encapsulated nanomedicine for gliomatosis cerebri combination therapy. ( 26017099 )
2016
14
Pediatric Gliomatosis Cerebri: A Review of 15 Years. ( 26239491 )
2016
15
Perioperative risk assessment of patients with gliomatosis cerebri. ( 27836704 )
2016
16
Radiology Case of the Month: Gliomatosis Cerebri. ( 27598892 )
2016
17
Gliomatosis cerebri in a 12-year-old patient. ( 25662824 )
2015
18
"Fungimitosis": Invasive fulminant Aspergillus brain infection mimicking gliomatosis cerebri. ( 26053824 )
2015
19
Gliomatosis cerebri in L-2-hydroxyglutaric aciduria. ( 25997888 )
2015
20
Gliomatosis cerebri: Case series of six cases with review of literature. ( 26752659 )
2015
21
Gliomatosis cerebri having a poor performance status without recurrence after radiotherapy: a single institutional experience. ( 25569296 )
2015
22
Pediatric gliomatosis cerebri mimicking tubercular encephalitis. ( 26962350 )
2015
23
Gliomatosis cerebri mimicking encephalitis evaluated using fluorine-18 fluorodeoxyglucose: Positron emission tomography/computed tomography. ( 25589818 )
2015
24
Gliomatosis cerebri with spinal metastasis presenting with chronic meningitis in two boys. ( 26318497 )
2015
25
Corticosteroid sensitivity in gliomatosis cerebri delays diagnosis. ( 25922538 )
2015
26
Gliomatosis cerebri mimicking viral encephalitis in a 4-year-old child. ( 24717581 )
2014
27
Nocardia abscesses mimicking tumor progression in gliomatosis cerebri responding to temozolomide. ( 25189790 )
2014
28
Clinical manifestations and imaging characteristics of gliomatosis cerebri with pathological confirmation. ( 24969874 )
2014
29
Procarbazine, CCNU, and Vincristine Chemotherapy in Gliomatosis Cerebri. ( 25408934 )
2014
30
Gliomatosis Cerebri Type 1 with Extensive Involvement of the Spinal Cord and BRAF V600E Mutation. ( 24353007 )
2014
31
Gliomatosis cerebri: a review. ( 24390814 )
2014
32
Patterns of presentation and failure in patients with gliomatosis cerebri treated with partial-brain radiation therapy. ( 24845411 )
2014
33
Exclusive radiotherapy for gliomatosis cerebri: long-term follow-up at a single institution. ( 24474572 )
2014
34
A comparison of clinical, magnetic resonance imaging and pathological findings in dogs with gliomatosis cerebri, focusing on cases with minimal magnetic resonance imaging changes(a8!) ( 24945683 )
2014
35
Gliomatosis cerebri mimicking acute viral encephalitis and with malignant transformation of partial lesions: A case report. ( 25120625 )
2014
36
Gliomatosis cerebri: clinical characteristics, management, and outcomes. ( 23341100 )
2013
37
Primary gliomatosis cerebri involving gray matter in pediatrics: a distinct entity? A multicenter study of 14 cases. ( 23306961 )
2013
38
Infiltration of the Optic Chiasm, Nerve, and Disc by Gliomatosis Cerebri. ( 23287703 )
2013
39
Uncal decompression in gliomatosis cerebri. ( 23618524 )
2013
40
Response: gliomatosis cerebri. ( 23495379 )
2013
41
Teaching NeuroImages: diffuse cerebral neurosarcoidosis mimicking gliomatosis cerebri. ( 23940026 )
2013
42
Bilateral ptosis as initial presentation of gliomatosis cerebri: case report. ( 23427031 )
2013
43
Letter to the editor: gliomatosis cerebri. ( 23198839 )
2013
44
Juvenile parkinsonism as an initial manifestation of gliomatosis cerebri. ( 24158273 )
2013
45
18F FDG PET/CT in a child with gliomatosis cerebri. ( 23122744 )
2013
46
Gliomatosis cerebri in two dogs. ( 22843831 )
2012
47
Subcutaneous tumor seeding after biopsy in gliomatosis cerebri. ( 21837541 )
2012
48
Mutated IDH1 is a favorable prognostic factor for type 2 gliomatosis cerebri. ( 21929658 )
2012
49
Gliomatosis cerebri. ( 22230515 )
2012
50
Presentation patterns and outcome of gliomatosis cerebri. ( 22740882 )
2012

Variations for Gliomatosis Cerebri

Expression for Gliomatosis Cerebri

Search GEO for disease gene expression data for Gliomatosis Cerebri.

Pathways for Gliomatosis Cerebri

Pathways related to Gliomatosis Cerebri according to GeneCards Suite gene sharing:

(show all 41)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.92 EGFR MDM2 PTEN TP53
2
Show member pathways
12.86 EGFR MDM2 PTEN TP53
3
Show member pathways
12.85 EGFR MDM2 PTEN TP53
4
Show member pathways
12.76 EGFR MDM2 PTEN TP53
5 12.62 EGFR MDM2 PTEN TP53
6
Show member pathways
12.5 EGFR MDM2 PTEN TP53
7
Show member pathways
12.32 EGFR PTEN TP53
8
Show member pathways
12.31 EGFR MDM2 TP53
9
Show member pathways
12.3 EGFR MDM2 TP53
10
Show member pathways
12.27 EGFR MDM2 TP53
11 12.23 EGFR MDM2 PTEN TP53
12
Show member pathways
12.22 MDM2 PTEN TP53
13
Show member pathways
12.18 MDM2 PTEN TP53
14 12.11 EGFR MDM2 TP53
15
Show member pathways
12.07 MDM2 PTEN TP53
16 11.99 MDM2 PTEN TP53
17
Show member pathways
11.95 EGFR MDM2 TP53
18
Show member pathways
11.92 EGFR MDM2 PTEN
19
Show member pathways
11.89 EGFR MDM2 PTEN
20
Show member pathways
11.89 EGFR MDM2 PTEN TP53
21 11.86 MDM2 PTEN TP53
22 11.8 EGFR GFAP TP53
23 11.77 MDM2 PTEN TP53
24 11.75 EGFR MDM2 PTEN TP53
25
Show member pathways
11.73 GFAP INA NES
26
Show member pathways
11.72 EGFR GFAP MDM2
27 11.7 MDM2 PTEN TP53
28 11.61 EGFR MDM2 PTEN
29 11.58 EGFR MDM2 PTEN TP53
30 11.47 EGFR MDM2 TP53
31 11.32 MDM2 TP53
32 11.3 EGFR MDM2 PTEN TP53
33 11.28 MDM2 PTEN TP53
34 11.23 PTEN TP53
35 11.17 EGFR TP53
36 11.16 MDM2 PTEN TP53
37 11.15 MDM2 TP53
38 11.13 MDM2 TP53
39 10.96 MDM2 TP53
40
Show member pathways
10.95 MDM2 TP53
41 10.74 EGFR IDH1 PTEN TP53

GO Terms for Gliomatosis Cerebri

Cellular components related to Gliomatosis Cerebri according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 9.33 GFAP INA NES
2 neurofilament GO:0005883 8.96 GFAP INA
3 intermediate filament cytoskeleton GO:0045111 8.8 GFAP INA NES

Biological processes related to Gliomatosis Cerebri according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 protein deubiquitination GO:0016579 9.71 MDM2 PTEN TP53
2 negative regulation of apoptotic process GO:0043066 9.67 EGFR MDM2 PTEN TP53
3 protein kinase B signaling GO:0043491 9.55 MDM2 PTEN
4 long-term synaptic potentiation GO:0060291 9.52 GFAP PTEN
5 positive regulation of cell cycle GO:0045787 9.51 MDM2 TP53
6 response to steroid hormone GO:0048545 9.49 IDH1 MDM2
7 cellular response to reactive oxygen species GO:0034614 9.48 EGFR TP53
8 response to antibiotic GO:0046677 9.46 MDM2 TP53
9 cellular response to gamma radiation GO:0071480 9.43 MDM2 TP53
10 response to oxidative stress GO:0006979 9.43 EGFR IDH1 TP53
11 positive regulation of protein export from nucleus GO:0046827 9.4 MDM2 TP53
12 cellular response to hypoxia GO:0071456 9.33 MDM2 PTEN TP53
13 response to inorganic substance GO:0010035 9.32 PTEN TP53
14 cellular response to actinomycin D GO:0072717 8.96 MDM2 TP53
15 response to organic cyclic compound GO:0014070 8.92 EGFR IDH1 PTEN TP53

Molecular functions related to Gliomatosis Cerebri according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.26 EGFR MDM2 PTEN TP53
2 disordered domain specific binding GO:0097718 9.16 MDM2 TP53
3 identical protein binding GO:0042802 9.1 EGFR GFAP IDH1 MDM2 PTEN TP53

Sources for Gliomatosis Cerebri

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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