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, 46NIH Rare Diseases, 13DISEASES, 52Orphanet, 48Novoseek, 37MeSH, 66UMLS, 43NCIt, 67UMLS via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Hemangioblastoma:

Name: Hemangioblastoma 11 46 13 52 48 37 66
 
Capillary Hemangioblastoma 11 46

Characteristics:

Orphanet epidemiological data:

52
hemangioblastoma:
Age of onset: Adult

Classifications:



External Ids:

Disease Ontology11 DOID:5241
MeSH37 D018325
NCIt43 C3801
SNOMED-CT60 81201000
Orphanet52 ORPHA252054
UMLS via Orphanet67 C0206734

Summaries for Hemangioblastoma

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NIH Rare Diseases:46 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 hemangiopericytoma and clear cell ependymoma. An important gene associated with Hemangioblastoma is VHL (Von Hippel-Lindau Tumor Suppressor), and among its related pathways are G-protein signaling_K-RAS regulation pathway and Hematopoietic cell lineage. Affiliated tissues include spinal cord, brain and retina, and related mouse phenotypes are embryo and normal.

Wikipedia:69 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 174)
idRelated DiseaseScoreTop Affiliating Genes
1hemangiopericytoma30.6PAX2, PAX8
2clear cell ependymoma30.4GFAP, SYP
3akinetic mutism30.0HBA1, SYP
4renal cell carcinoma29.4KRT8, MME, PAX2, PAX8, SLC2A1, VHL
5retinal hemangioblastoma12.2
6cerebellar angioblastoma11.1
7brain stem angioblastoma11.1
8von hippel-lindau syndrome10.9
9global developmental delay-lung cysts-overgrowth-wilms tumor syndrome10.8MME, VHL
10acute retinal necrosis syndrome10.8MME, PAX2
11pediatric ovarian dysgerminoma10.7PAX2, PAX8
12biliary tract neoplasm10.7PAX2, PAX8
13testicular yolk sac tumor10.7PAX2, PAX8
14conjunctivitis10.7EZR, GFAP
15ovarian stromal hyperthecosis10.7PAX2, PAX8
16gallbladder signet ring cell adenocarcinoma10.7MME, SYP
17bronchus adenoma10.7MME, PAX2
18pancreatic serous cystic neoplasm10.7SYP, VHL
19grubben de cock borghgraef syndrome10.7GFAP, SYP
20papillary glioneuronal tumor10.7GFAP, SYP
21periductal breast myoepitheliosis10.7MME, PAX8
22lice infestation10.7GFAP, SYP
23chiari malformation type 410.7GFAP, SYP
24cauda equina neoplasm10.7GFAP, SYP
25glomus tumor10.7GFAP, SYP
26brain glioma10.7GFAP, SYP
27vulvar benign neoplasm10.6GFAP, SYP
28hypersensitivity reaction type ii disease10.6GFAP, SYP
29brainstem intraparenchymal clear cell meningioma10.6GFAP, SYP
30jewett-marshall bladder cancer10.6GFAP, SYP
31lumbar plexus neoplasm10.6GFAP, SYP
32yolk sac tumor of central nervous system10.6GFAP, SYP
33atypical choroid plexus papilloma10.6GFAP, SYP
34pilomyxoid astrocytoma10.6GFAP, SYP
35cauda equina intradural extramedullary astrocytoma10.6GFAP, SYP
36choroid disease10.6GFAP, SYP
37subpulmonary stenosis10.6GFAP, SYP
38vitamin metabolic disorder10.6GFAP, SYP
39pineoblastoma10.6GFAP, SYP
40intracystic papillary adenoma10.6GFAP, SYP
41plexopathy10.6GFAP, SYP
42malignant granular cell esophageal tumor10.6GFAP, SYP
43gallbladder adenoma10.6GFAP, SYP
44congenital hypogammaglobulinemia10.6GFAP, SYP
45malignant pineal area germ cell neoplasm10.6GFAP, SYP
46ependymoblastoma10.6GFAP, SYP
47diencephalic astrocytomas10.6GFAP, SYP
48embryonal sarcoma10.6KRT8, VHL
49pineal parenchymal tumor of intermediate differenciation10.6GFAP, SYP
50acanthoma10.5MME, SYP

Graphical network of the top 20 diseases related to Hemangioblastoma:



Diseases related to hemangioblastoma

Symptoms for Hemangioblastoma

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Drugs & Therapeutics for Hemangioblastoma

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
VatalanibPhase 240212141-54-3151194
Synonyms:
1-(4-chloroanilino)-4-(4-pyridylmethyl)phthalazine succinate
CGP79787
PTK 787
 
PTK/ZK
PTK787
PTK787/ZK 222584
ZK222584
vatalanib
2
SunitinibPhase 2493341031-54-7, 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
3
PancrelipasePhase 291753608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
4pancreatinPhase 2917
5
VorinostatPhase 1240149647-78-95311
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
6
BevacizumabPhase 01938216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab

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
3Evaluation of Sunitinib Malate in Patients With Von Hippel-Lindau Syndrome (VHL) Who Have VHL Lesions to FollowTerminatedNCT00330564Phase 2
4TKI 258 in Von Hippel-Lindau Syndrome (VHL)TerminatedNCT01266070Phase 2
5Effect of Vorinostat on Nervous System Hemangioblastomas in Von Hippel-Lindau Disease (Missense Mutation Only)Enrolling by invitationNCT02108002Phase 1
6Visualizing Vascular Endothelial Growth Factor (VEGF) Producing Lesions in Von Hippel-Lindau DiseaseCompletedNCT00970970
7Endolymphatic 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
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 DiseaseTerminatedNCT01015300Phase 0

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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:

34
Spinal cord, Brain, Retina, Cerebellum, Eye, Endothelial, Pituitary

Animal Models for Hemangioblastoma or affiliated genes

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MGI Mouse Phenotypes related to Hemangioblastoma:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053807.7EPO, EPOR, KRT8, PAX2, PAX8, SLC2A1
2MP:00028737.4EPO, EPOR, GFAP, PAX8, PROM1, SYP
3MP:00053856.7EPO, EPOR, GFAP, KRT8, PAX2, PAX8
4MP:00053786.3EPOR, EZR, GFAP, KRT8, PAX8, PROM1
5MP:00107685.8EPO, EPOR, EZR, GFAP, KRT8, PAX2

Publications for Hemangioblastoma

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Articles related to Hemangioblastoma:

(show top 50)    (show all 618)
idTitleAuthorsYear
1
Diagnosis and microsurgical treatment of spinal hemangioblastoma. (26908123)
2016
2
Refractory Orthostatic Hypotension Caused by a Recurrent Hemangioblastoma: Case Report and Review of the Literature. (27158570)
2016
3
Sporadic intramedullary hemangioblastoma of the spine: a single institutional review of 21 cases. (26355433)
2015
4
Propranolol reduces viability and induces apoptosis in hemangioblastoma cells from von Hippel-Lindau patients. (26394686)
2015
5
Spinal hemangioblastoma combined with pilocytic astrocytoma. (26166599)
2015
6
Clear Cell Renal Cell Carcinoma (ccRCC) with Hemangioblastoma-like Features: A Previously Unreported Pattern of ccRCC with Possible Clinical Significance. (24821578)
2014
7
Orthostatic hypotension following resection of a dorsal medullary hemangioblastoma. (22167348)
2012
8
Clinically unsuspected retinal hemangioblastoma in a blind eye as the initial manifestation of von Hippel-Lindau disease. (22281434)
2012
9
Manifestation of a sellar hemangioblastoma due to pituitary apoplexy: a case report. (21970745)
2011
10
Sporadic hemangioblastoma of the kidney: an underrecognized pseudomalignant tumor? (21378542)
2011
11
A^A^C-choline and F-18 FDG PET/CT images of hemangioblastoma. (21220983)
2011
12
Fluorescence diagnosis of tumor cells in hemangioblastoma cysts with 5-aminolevulinic acid. (19480541)
2010
13
Overexpression and activation of epidermal growth factor receptor in hemangioblastomas. (20730556)
2010
14
Supratentorial hemangioblastoma in the neonatal period. (19321952)
2009
15
Hemangioblastoma of the lateral ventricle. (19934579)
2009
16
Differentiation of clear cell ependymoma of the cerebellum from hemangioblastoma by thallium-201 single photon emission computed tomography-case report-. (20035139)
2009
17
Cytodiagnosis of supratentorial hemangioblastoma. (18500008)
2008
18
Hemangioblastoma of the filum terminale. Case report and review of the literature. (17725110)
2007
19
Hemangioblastoma of the optic nerve--case report. (17527048)
2007
20
Von Hippel-Lindau disease germline mutations in Mexican patients with cerebellar hemangioblastoma. (16572651)
2006
21
Stromal cells in hemangioblastoma: neuroectodermal differentiation and morphological similarities to ependymoma. (15982211)
2005
22
Capillary hemangioblastoma of soft tissue: report of a case and review of the literature. (16226115)
2005
23
Surgical management of osseous hemangioblastoma of the thoracic spine: technical case report. (16234659)
2005
24
Cranial nerve hemangioblastoma. (12691428)
2003
25
Surgical management of brainstem hemangioblastomas in patients with von Hippel-Lindau disease. (12546357)
2003
26
Diagnosis and treatment of intramedullary hemangioblastoma of cervical spinal cord. (12150732)
2002
27
Intratumoral hemorrhage due to hemangioblastoma arising from a cervical nerve root--a case report. (12604294)
2002
28
MR findings in spinal hemangioblastoma: correlation with symptoms and with angiographic and surgical findings. (11158911)
2001
29
Supratentorial hemangioblastoma in a patient with breast cancer. A case report. (11126448)
2000
30
Vascular permeability factor expression in cerebellar hemangioblastomas: correlation with tumor-associated cysts. (10222417)
1999
31
Hepatic hemangioblastoma: an unusual presentation of von Hippel-Lindau disease. (10433288)
1999
32
Hemangioblastoma of the filum terminale: MR imaging. (10470964)
1999
33
Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. (9829912)
1998
34
Pathology, genetics and cell biology of hemangioblastomas. (8930647)
1996
35
Cerebellar hemangioblastoma complicating pregnancy. A case report. (8576886)
1995
36
Immunohistochemical study of basic fibroblast growth factor and erythropoietin in cerebellar hemangioblastomas. (7894620)
1994
37
Intramedullary hemorrhage in spinal cord hemangioblastoma. Report of two cases. (7965128)
1994
38
Magnetic resonance imaging and microsurgical treatment of intramedullary hemangioblastoma of the spinal cord. (7808610)
1994
39
Retinal hemangioblastoma. A histologic, immunohistochemical, and ultrastructural evaluation. (1741127)
1992
40
Cerebellar hemangioblastoma and subependymoma: a case report of an unprecedented association. (3995811)
1985
41
Juxtapapillary retinal hemangioblastoma (angiomatosis retinae) in an infant: light microscopical and ultrastructural examination. (7157495)
1982
42
Cerebellar hemangioblastoma with clear nuclei. Case report and ultrastructural study. (6894530)
1981
43
Surgical removal of hemangioblastoma in the fourth ventricle. (7191146)
1980
44
Supratentorial hemangioblastoma in childhood. (7190486)
1980
45
Fenestrated vessels in human hemangioblastoma. (4857036)
1974
46
Cerebellar hemangioblastoma with a tentorial artery supply: report of a case. (5170810)
1971
47
Hematological study on a case with cerebellar hemangioblastoma associated with erythrocytosis, with special reference to a erythropoiesis-stimulating activity present in the fluid of the cyst of tumor. (5461951)
1970
48
The association of polycythemia with a cerebellar hemangioblastoma. The production of an erythropoiesis stimulating factor by the tumor. (13782653)
1961
49
Cerebellar hemangioma (hemangioblastoma); a clinicopathological review of 40 cases. (12981570)
1952
50
Lindauvon Hippel disease with hemangioblastoma of the spinal cord and syringomyelia. (20243511)
1947

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
1neuron projection terminusGO:004430610.3MME, SYP
2astrocyte projectionGO:00974499.9EZR, GFAP
3microvillus membraneGO:00315289.4EZR, PROM1
4cell bodyGO:00442979.1EPO, EZR, GFAP
5vesicleGO:00319829.0EZR, PROM1, SLC2A1
6membraneGO:00160207.6EZR, GFAP, HBA1, MME, SLC2A1, SYP

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesisGO:007230510.4PAX2, PAX8
2negative regulation of apoptotic process involved in metanephric nephron tubule developmentGO:190021810.4PAX2, PAX8
3negative regulation of apoptotic process involved in metanephric collecting duct developmentGO:190021510.4PAX2, PAX8
4positive regulation of metanephric DCT cell differentiationGO:200059410.3PAX2, PAX8
5positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesisGO:007210810.3PAX2, PAX8
6pronephric field specificationGO:003900310.3PAX2, PAX8
7metanephric nephron tubule formationGO:007228910.3PAX2, PAX8
8urogenital system developmentGO:000165510.3PAX2, PAX8
9negative regulation of mesenchymal cell apoptotic process involved in metanephros developmentGO:190021210.3PAX2, PAX8
10metanephric epithelium developmentGO:007220710.2PAX2, PAX8
11regulation of metanephric nephron tubule epithelial cell differentiationGO:007230710.1PAX2, PAX8
12positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.1PAX2, PAX8
13mesenchymal to epithelial transition involved in metanephros morphogenesisGO:000333710.0PAX2, PAX8
14pronephros developmentGO:004879310.0PAX2, PAX8
15mesonephros developmentGO:00018239.9PAX2, PAX8
16metanephric distal convoluted tubule developmentGO:00722219.7PAX2, PAX8

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055154.7EPO, EPOR, EZR, GFAP, HBA1, KRT8

Sources for Hemangioblastoma

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet