MCID: HMN009
MIFTS: 45

Hemangioblastoma malady

Categories: Rare diseases, Neuronal diseases, Cardiovascular diseases, Cancer diseases

Aliases & Classifications for Hemangioblastoma

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Sources:
11Disease Ontology, 13DISEASES, 31ICD10 via Orphanet, 39MeSH, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Hemangioblastoma:

Name: Hemangioblastoma 11 48 54 50 39 13 68
 
Capillary Hemangioblastoma 11 48

Characteristics:

Orphanet epidemiological data:

54
hemangioblastoma:
Age of onset: Adult

Classifications:



External Ids:

Disease Ontology11 DOID:5241
MeSH39 D018325
NCIt45 C3801
SNOMED-CT62 81201000
Orphanet54 ORPHA252054
ICD10 via Orphanet31 D33.4, D33.7
UMLS via Orphanet69 C0206734

Summaries for Hemangioblastoma

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NIH Rare Diseases:48 A hemangioblastoma is a benign, highly vascular tumor that can occur in the brain, spinal cord, and retina (the light-sensitive tissue that lines the back of the eye). this tumor accounts for about 2% of brain tumors. as it enlarges, it presses on the brain and can cause neurological symptoms, such as headaches, weakness, sensory loss, balance and coordination problems, and/or hydrocephalus (a buildup of spinal fluid in the brain). most hemangioblastomas occur sporadically. however, some people develop hemangioblastomas as part of a genetic syndrome called von hippel-lindau syndrome. these people usually develop multiple tumors within the brain and spinal cord over their lifetime. last updated: 7/5/2011

MalaCards based summary: Hemangioblastoma, also known as capillary hemangioblastoma, is related to pilocytic astrocytoma and clear cell ependymoma. An important gene associated with Hemangioblastoma is VHL (Von Hippel-Lindau Tumor Suppressor), and among its related pathways are Amplification and Expansion of Oncogenic Pathways as Metastatic Traits and HIF-1-alpha transcription factor network. Affiliated tissues include spinal cord, brain and retina, and related mouse phenotypes are liver/biliary system and digestive/alimentary.

Wikipedia:71 Hemangioblastomas (or haemangioblastomas, see spelling differences) (capilliary hemangioblastomas) are... more...

Related Diseases for Hemangioblastoma

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

(show top 50)    (show all 213)
idRelated DiseaseScoreTop Affiliating Genes
1pilocytic astrocytoma29.6GFAP, SYP
2clear cell ependymoma29.5MUC1, S100B
3retinal hemangioblastoma12.0
4von hippel-lindau syndrome11.6
5angiomatosis11.1
6cerebellar angioblastoma11.0
7brain stem angioblastoma10.8
8lymphatic system disease10.3ENO2, VEGFA
9infiltrating renal pelvis transitional cell carcinoma10.3ENO2, SYP
10thymus small cell carcinoma10.3ENO2, SYP
11diabetes hypogonadism deafness mental retardation10.3GFAP, SYP
12papillary tumor of the pineal region10.3GFAP, SYP
13hyperinsulinism10.3GFAP, VEGFA
14thrombophlebitis10.3ENO2, GFAP
15brain stem ependymoma10.3GFAP, SYP
16intrahepatic bile duct adenoma10.3GFAP, SYP
17glomus tumor10.3ENO2, SYP
18pilocytic astrocytoma of cerebellum10.3GFAP, SYP
19children's interstitial lung disease10.3GFAP, SYP
20pemphigus foliaceus10.3ENO2, SYP
21benign schwannoma10.2ENO2, S100B
22spasmodic dysphonia10.2ENO2, SYP
23cervical benign neoplasm10.2GFAP, SYP
24myxopapillary ependymoma10.2GFAP, SYP
25bronchial mucus gland adenoma10.2GFAP, S100B
26erythrocytosis, familial, 210.2INHA, VEGFA, VHL
27ampullary signet ring cell adenocarcinoma10.2ENO2, SYP
28epidermal appendage tumor10.2GFAP, SYP
29main bronchus cancer10.2SYP, VEGFA, VHL
30thymic dysplasia10.2INHA, MUC1
31blood protein disease10.2EZR, GFAP
32jejunal neuroendocrine tumor10.2S100B, SYP
33maxillary neoplasm10.2ENO2, GFAP, VEGFA
34clear cell meningioma10.2GFAP, SYP
35growth retardation hydrocephaly lung hypoplasia10.2ENO2, INHA, SYP
36retinitis10.2
37zollinger-ellison syndrome10.2ENO2, SYP, VHL
38perineural angioma10.2ENO2, SYP
39cardioauditory syndrome of sanchez cascos10.2ENO2, SYP, VEGFA
40vagina leiomyosarcoma10.2GFAP, MUC1
41mucinous cystadenocarcinoma10.2INHA, MUC1
42brucella canis brucellosis10.2ENO2, SYP, VEGFA
43nephrogenic adenoma of urinary bladder10.2ENO2, GFAP, SYP
44blood group incompatibility10.2ENO2, GFAP, SYP
45superior vena cava syndrome10.2ENO2, GFAP, SYP
46lucey-driscoll syndrome10.2MUC1, S100B
47secondary pulmonary hemosiderosis10.2MUC1, S100B
48childhood central nervous system primitive neuroectodermal neoplasm10.2ENO2, GFAP, SYP
49clear cell variant infiltrating bladder urothelial carcinoma10.2ENO2, GFAP, SYP
50myoepithelial carcinoma10.2ENO2, GFAP, SYP

Graphical network of the top 20 diseases related to Hemangioblastoma:



Diseases related to hemangioblastoma

Symptoms & Phenotypes for Hemangioblastoma

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MGI Mouse Phenotypes related to Hemangioblastoma according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1EPO, EPOR, INHA, KRT8, VEGFA, VHL
2MP:00053819.0EZR, GFAP, INHA, KRT8, VEGFA, VHL
3MP:00053808.4EPO, EPOR, KRT8, PAX2, SLC2A1, VEGFA
4MP:00053858.0EPO, EPOR, GFAP, INHA, KRT8, PAX2
5MP:00028737.5EPO, EPOR, GFAP, INHA, S100B, SYP
6MP:00107687.2EPO, EPOR, EZR, GFAP, INHA, KRT8

Drugs & Therapeutics for Hemangioblastoma

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

(show all 13)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Sunitinibapproved, investigationalPhase 2510341031-54-7, 557795-19-45329102
Synonyms:
(2S)-2-hydroxybutanedioic acid
1H-Pyrrole-3-carboxamide, N-(2-(diethylamino)ethyl)-5-((Z)-(5-fluoro-1,2-dihydro-2-oxo-3H-indol-3-ylidene)methyl)-2,4-dimethyl-, (2S)-hydroxybutanedioate (1:1)
1H-Pyrrole-3-carboxamide, N-(2-(diethylamino)ethyl)-5-((Z)-(5-fluoro-1,2-dihydro-2-oxo-3H-indol-3-ylidene)methyl)-2,4-dimethyl-, (2S)-hydroxybutanedioate (1:1)
326914-13-0
341031-54-7
5-(5-FLUORO-2-OXO-1,2-DIHYDRO-INDOL-3-YLIDENEMETHYL)-2,4-DIMETHYL-1H-PYRROLE-3-CARBOXYLIC ACID (2-DIETHYLAMINO-ETHYL)-AMIDE
557795-19-4
AC1NS62J
AC1O5CMQ
AKOS005145765
Butanedioic acid, hydroxy-, (2S)-, compd. with N-(2-(diethylamino)ethyl)-5-((Z)-(5-fluoro-1,2-dihydro-2-oxo-3H-indol-3-ylidene)methyl)-2,4-dimethyl-1H-pyrrole-3-carboxamide (1:1)
CHEBI:38940
CHEBI:550864
CHEMBL1567
CHEMBL535
CID5329102
CID6456015
D06402
D08552
DB01268
DB07417
EN002687
FT-0083555
FT-0083556
I01-1229
K00588a
KS-5022
LS-186078
LS-187023
LS-187648
MolPort-003-986-763
N-(2-(Diethylamino)ethyl)-5-((Z)-(5-fluoro-1,2-dihydro-2-oxo-3H-indol-3-ylidene)methyl)-2,4-dimethyl-1H-pyrrole-3-carboxamide (2S)-hydroxybutanedioate
N-(2-diethylaminoethyl)-5-[(Z)-(5-fluoro-2-oxo-1H-indol-3-ylidene)methyl]-2,4-dimethyl-1H-pyrrole-3-carboxamide
N-[2-(diethylamino)ethyl]-5-[(Z)-(5-fluoro-2-oxo-1,2-dihydro-3H-indol-3-ylidene)methyl]-2,4-dimethyl-1H-pyrrole-3-carboxamide
NCGC00164631-01
 
NSC736511
NSC750690
PDGF TK antagonist
PHA-290940AD
PNU-290940AD
S1042_Selleck
ST51053712
SU 011248
SU 11248
SU-010398
SU-011248 L-malate salt
SU-11248
SU-11248 L-malate salt
SU-11248J
SU-12662
SU010398
SU011248
SU011248 L-malate salt
SU11248
Su-011248
Sunitanib
Sunitinib
Sunitinib (INN)
Sunitinib (free base)
Sunitinib malate
Sunitinib malate (JAN/USAN)
Sunitinib malate [USAN]
Sunitinibum
Sutent
Sutent (TN)
Sutent, SU-11248
TL8002546
UNII-LVX8N1UT73
UNII-V99T50803M
sunitinib
sunitinibum
2
PancrelipaseapprovedPhase 297053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
3
VatalanibinvestigationalPhase 240212141-54-3151194
Synonyms:
1-(4-chloroanilino)-4-(4-pyridylmethyl)phthalazine succinate
CGP79787
PTK 787
 
PTK/ZK
PTK787
PTK787/ZK 222584
ZK222584
vatalanib
4Protein Kinase InhibitorsPhase 23689
5Angiogenesis Modulating AgentsPhase 2, Early Phase 14185
6Angiogenesis InhibitorsPhase 2, Early Phase 14257
7Cytochrome P-450 CYP3A InducersPhase 21119
8pancreatinPhase 2970
9
Vorinostatapproved, investigationalPhase 1247149647-78-95311
Synonyms:
149647-78-9
1zz1
AC-1923
AC1L1K2K
BRD-K81418486-001-10-3
C111237
CCRIS 8456
CHEBI:45716
CHEMBL98
CID5311
D06320
DB02546
EC-000.2057
FT-0082592
LS-186548
LS-186997
LS-187780
MK-0683
MK0683
MLS001065855
Merck brand of Vorinostat
MolPort-003-850-293
N'-hydroxy-N-phenyloctanediamide
N-Hydroxy-N'-phenyl octanediamide
N-Hydroxy-N'-phenyloctanediamide
N-Hyrdroxy-N'-phenyloctanediamide
N-hydroxy-N'-phenyl-octane-1,8-diotic acid diamide
N-hydroxy-N'-phenyloctanediamide
N1-hydroxy-N8-phenyloctanediamide
NCGC00168085-02
 
NHNPODA
NSC-701852
NSC701852
OCTANEDIOIC ACID HYDROXYAMIDE PHENYLAMIDE
Octanedioic acid hydroxyamide phenylamide
S1047_Selleck
SAHA
SAHA cpd
SAHA, Suberoylanilide hydroxamic acid
SHH
SKI390
SMR000486344
SW-064652
Suberanilohydroxamic acid
SuberoylaN/Aide hydroxamic acid
Suberoylanilide hydroxamic acid
UNII-58IFB293JI
Vorinostat
Vorinostat (JAN/USAN)
Vorinostat MSD
Vorinostat [USAN]
Vorinostatum
WIN64652
ZINC01543873
Zolinza
Zolinza (TN)
Zolinza, MK-0683, SAHA
m344
nchembio.275-comp2
nchembio.313-comp1
nchembio815-comp18
suberoylanilide hydroxamic acid
10Histone Deacetylase InhibitorsPhase 1569
11
Bevacizumabapproved, investigationalEarly Phase 12020216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
12Mitogens1617
13Endothelial Growth Factors382

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Treatment of Von Hippel-Lindau (VHL)-Related Hemangioblastoma With PTK787/ZK 222584CompletedNCT00052013Phase 2
2Phase II Trial of Sunitinib (SU011248) in Patients With Recurrent or Inoperable MeningiomaCompletedNCT00589784Phase 2
3TKI 258 in Von Hippel-Lindau Syndrome (VHL)TerminatedNCT01266070Phase 2
4Evaluation of Sunitinib Malate in Patients With Von Hippel-Lindau Syndrome (VHL) Who Have VHL Lesions to FollowTerminatedNCT00330564Phase 2
5Effect of Vorinostat on Nervous System Hemangioblastomas in Von Hippel-Lindau Disease (Missense Mutation Only)Enrolling by invitationNCT02108002Phase 1
6Endolymphatic Sac Tumors in a Population of Patients With Von Hippel-Lindau Disease:The Natural History and Pathobiology, and a Prospective Non-Randomized Clinical Trial of Hearing Preservation Surgery in Patients With Early Stage Endolymphatic Sac TumorsCompletedNCT00001668
7Visualizing Vascular Endothelial Growth Factor (VEGF) Producing Lesions in Von Hippel-Lindau DiseaseCompletedNCT00970970
8Psychosocial Consequences of the Screening of Von Hippel Lindau Diseases for Patients Operated for a hémangioblastoma of Nervous Centrasl SystemActive, not recruitingNCT02120040
9Study of Brain and Spinal Cord Tumor Growth and Cyst Development in Patients With Von Hippel Lindau DiseaseActive, not recruitingNCT00005902
10Assessment of Residual VHL Function in Tumors - Can it Predict the Patients' Individual Course of Disease?Enrolling by invitationNCT02207686
11Bevacizumab (Avastin) in Unresectable/Recurrent Hemangioblastoma From Von-Hippel-Lindau DiseaseTerminatedNCT01015300Early Phase 1

Search NIH Clinical Center for Hemangioblastoma


Cochrane evidence based reviews: hemangioblastoma

Genetic Tests for Hemangioblastoma

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Anatomical Context for Hemangioblastoma

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MalaCards organs/tissues related to Hemangioblastoma:

36
Spinal cord, Brain, Retina, Cerebellum, Eye, Endothelial, Pituitary

Publications for Hemangioblastoma

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Articles related to Hemangioblastoma:

(show top 50)    (show all 625)
idTitleAuthorsYear
1
Image-guided stereotactic radiosurgery for treatment of spinal hemangioblastoma. (28041328)
2017
2
Usefulness of high-resolution 3D multifusion medical imaging for preoperative planning in patients with posterior fossa hemangioblastoma: technical note. (27564468)
2016
3
Isolated hemangioblastoma of the cervical spinal cord: A case report and literature review. (27424104)
2016
4
Refractory Orthostatic Hypotension Caused by a Recurrent Hemangioblastoma: Case Report and Review of the Literature. (27158570)
2016
5
VITREORETINAL SURGERY FOR PATIENTS WITH SEVERE EXUDATIVE AND PROLIFERATIVE MANIFESTATIONS OF RETINAL CAPILLARY HEMANGIOBLASTOMA BECAUSE OF VON HIPPEL-LINDAU DISEASE. (27533771)
2016
6
Cerebellar hemangioblastoma mimicking an aneurysm: A case report and literature review. (27698835)
2016
7
Retraction: Solid hemangioblastoma in the cerebellopontine angle: Importance of external carotid blood supply with regard to the probable site of origin and preoperative embolization. (27127707)
2016
8
18F-FDG and 68Ga-DOTATATE PET/CT in von Hippel-Lindau Disease-Associated Retinal Hemangioblastoma. (28033220)
2016
9
Magnetic resonance imaging findings in spinal hemangioblastoma case. (26892370)
2016
10
Delayed presentation of an arteriovenous malformation after cerebellar hemangioblastoma resection-Case report. (27086272)
2016
11
Surgical treatment of sporadic and von Hippel-Lindau syndrome-associated intramedullary hemangioblastomas. (27591060)
2016
12
Acute hemorrhagic paraplegia in a thoracic spinal hemangioblastoma after free diving. (27683699)
2016
13
Suprasellar Hemangioblastoma Unrelated to von Hippel-Lindau Disease Successfully Treated through Extended Transsphenoidal Approach: Diagnostic Value of Von Hippel-Lindau Disease Gene-Derived Protein. (27123746)
2016
14
Sporadic intramedullary hemangioblastoma with holo-hydrosyringomyelia. (26961196)
2016
15
Surgical Treatment of Hemangioblastoma in the Pituitary Stalk: An Extremely Rare Case. (26847309)
2016
16
Cerebellospinal hemangioblastoma with bilateral pheochromocytoma and hepatic cyst: A rare entity. (27366269)
2016
17
Hemangioblastoma located in the posterior incisural space mimicking a tentorial meningioma: a case report. (27339157)
2016
18
Differentiation of Hemangioblastoma from Metastatic Brain Tumor using Dynamic Contrast-enhanced MR Imaging. (26952018)
2016
19
Role of preoperative embolization of intramedullary hemangioblastoma. (27236735)
2016
20
Cerebellar Hemangioblastoma. (26958149)
2016
21
Intramedullary hemangioblastoma: Microsurgical resection technique. (26776665)
2016
22
Identification of genomic aberrations in hemangioblastoma by droplet digital PCR and SNP microarray highlights novel candidate genes and pathways for pathogenesis. (26768750)
2016
23
Relationship between Spinal Hemangioblastoma Location and Age. (27114772)
2016
24
Spontaneous Devascularization and Detachment of Optic Nerve Hemangioblastoma in a Patient With Von Hippel-Lindau Disease. (27608053)
2016
25
Stereotactic radiosurgery in hemangioblastoma: Experience over 14 years. (26933339)
2016
26
Gamma Knife radiosurgery for intracranial hemangioblastoma. (27422585)
2016
27
Differences in Multimodality Intraoperative Neurophysiological Monitoring Changes Between Spinal Intramedullary Ependymoma and Hemangioblastoma. (26690548)
2016
28
Metastatic cerebellar tumor of papillary thyroid carcinoma mimicking cerebellar hemangioblastoma. (27386360)
2016
29
Diagnosis and microsurgical treatment of spinal hemangioblastoma. (26908123)
2016
30
Successful surgical strategy for a cervical hemangioblastoma: Case report. (27843681)
2016
31
Study of angiogenic signaling pathways in hemangioblastoma. (27388534)
2016
32
Somatic gain-of-function HIF2A mutations in sporadic central nervous system hemangioblastomas. (26514359)
2016
33
Atypical onset of sciatica in a patient with a filum terminale hemangioblastoma. (28011175)
2016
34
Difference in CXCR4 expression between sporadic and VHL-related hemangioblastoma. (26920352)
2016
35
Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-I+ binding site missense mutations elevate age-specific risk for CNS hemangioblastoma. (27439424)
2016
36
Infundibular Hemangioblastoma in a Patient with Neurofibromatosis Type 1: Case Report and Review of the Literature. (26724614)
2016
37
Solid hemangioblastoma in the cerebellopontine angle: Importance of external carotid blood supply with regard to the probable site of origin and preoperative embolization. (26862451)
2016
38
Coexistence of intracranial aneurysm and hemangioblastoma: A case report and literature review. (27339833)
2016
39
Biological and clinical impact of hemangioblastoma-associated peritumoral cysts in von Hippel-Lindau disease. (26517769)
2015
40
Sporadically second localization of cerebellar hemangioblastoma in sella turcica mimicking a meningioma with no associated von Hippel-Lindau disease. (25817084)
2015
41
Solid hemangioblastoma of vestibular nerve mimicking vestibular schwannoma. (25899423)
2015
42
Intratumoral hemorrhage in a patient with cerebellar hemangioblastoma: a case report and review. (25634201)
2015
43
Cerebellar Hemangioblastoma and Pancreatic Cysts in a Case of von Hippel-Lindau Disease. (26522977)
2015
44
Intractable hiccups caused by syringobulbia and syringomyelia associated with intramedullary spinal hemangioblastoma. (25716660)
2015
45
Hemangioblastoma stromal cells. (26173925)
2015
46
Sporadic intramedullary hemangioblastoma of the spine: a single institutional review of 21 cases. (26355433)
2015
47
Visualization of vascular structure of spinal hemangioblastoma using intraoperative indocyanine green videoangiography and temporary feeder occlusion. (25563200)
2015
48
Lumbar nerve root hemangioblastoma and iliac bone cyst in a patient with Von Hippel-Lindau disease. (26334231)
2015
49
A case of a choroid plexus papilloma mimicking a hemangioblastoma-letter to the editor. (26249660)
2015
50
Medullary hemangioblastoma in a child with von Hippel-Lindau disease: vascular tumor perfusion depicted by arterial spin labeling and dynamic contrast-enhanced imaging. (25885801)
2015

Variations for Hemangioblastoma

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Expression for genes affiliated with Hemangioblastoma

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Search GEO for disease gene expression data for Hemangioblastoma.

Pathways for genes affiliated with Hemangioblastoma

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GO Terms for genes affiliated with Hemangioblastoma

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

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056157.5ENO2, EPO, EZR, INHA, MUC1, S100B

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1erythropoietin-mediated signaling pathwayGO:003816210.5EPO, EPOR
2hemoglobin biosynthetic processGO:004254110.4EPO, INHA
3regulation of neuronal synaptic plasticityGO:004816810.0S100B, SYP
4positive regulation of branching involved in ureteric bud morphogenesisGO:00901909.7PAX2, VEGFA
5epithelial cell differentiationGO:00308559.6EZR, MUC1, VEGFA
6regulation of cell shapeGO:00083609.4EZR, S100B, VEGFA
7regulation of transcription from RNA polymerase II promoter in response to hypoxiaGO:00614189.4EPO, VEGFA, VHL

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

idNameGO IDScoreTop Affiliating Genes
1S100 protein bindingGO:00445489.4EZR, S100B
2identical protein bindingGO:00428028.9EPOR, GFAP, S100B, SLC2A1, SYP, VEGFA
3protein bindingGO:00055155.4ENO2, EPO, EPOR, EZR, GFAP, INHA

Sources for Hemangioblastoma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet