Aliases & Classifications for Cavernous Malformation

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Aliases & Descriptions for Cavernous Malformation:

Name: Cavernous Malformation 46

Summaries for Cavernous Malformation

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NINDS:46 Cerebral cavernous malformations (CCMs) are vascular lesions comprised of clusters of tightly packed, abnormally thin-walled small blood vessels (capillaries) that displace normal neurological tissue in the brain or spinal cord.

MalaCards based summary: Cavernous Malformation is related to cerebral cavernous malformations 3 and cerebral cavernous malformation, familial. An important gene associated with Cavernous Malformation is CCM2 (CCM2 Scaffolding Protein). Affiliated tissues include brain, spinal cord and endothelial, and related mouse phenotypes are tumorigenesis and muscle.

Related Diseases for Cavernous Malformation

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

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1cerebral cavernous malformations 312.4
2cerebral cavernous malformation, familial12.3
3congenital vascular cavernous malformations12.1
4familial cerebral cavernous malformation 212.0
5familial cerebral cavernous malformation 312.0
6familial cerebral cavernous malformation 112.0
7familial cerebral cavernous malformation 412.0
8cerebral cavernous malformations-111.9
9cerebral cavernous malformations-211.6
10cerebritis10.8
11cavernous hemangioma10.6
12hepatosplenic t-cell lymphoma10.4
13endotheliitis10.2
14arteriovenous malformation10.1
15hematologic cancer10.0KRIT1, PTEN
16venous malformations, multiple cutaneous and mucosal10.0
17familial hemangioma10.0
18nevus cavernosus10.0
19vascular erectile tumor10.0
20hemangioma10.0
21hydrocephalus9.9CCM2, KRIT1, PDCD10
22siderosis9.9
23trigeminal neuralgia9.9
24cervicitis9.9
25superficial siderosis9.9
26charcot-marie-tooth hereditary neuropathy9.9CCM2, KRIT1, PDCD10
27subependymal glioma9.8CCM2, KRIT1, PDCD10
28trigonitis9.8
29melanoma9.8
30astrocytoma9.8
31retinitis9.8
32neuronitis9.8
33glioma9.8
34vascular malformation9.8
35aneurysm9.8
36adenosquamous carcinoma9.7CCM2, KRIT1, PDCD10
37medulloblastoma9.7
38klippel-trenaunay-weber syndrome9.7
39obsessive-compulsive disorder9.7
40choroid plexus papilloma9.7
41moyamoya disease9.7
42acute lymphocytic leukemia9.7
43arteriovenous fistula9.7
44hepatitis9.7
45leukemia9.7
46sinusitis9.7
47portal hypertension9.7
48choroiditis9.7
49optic neuritis9.7
50poland syndrome9.7

Graphical network of the top 20 diseases related to Cavernous Malformation:



Diseases related to cavernous malformation

Symptoms for Cavernous Malformation

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Drugs & Therapeutics for Cavernous Malformation

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

(show all 14)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Anticholesteremic AgentsPhase 1, Phase 2, Phase 01732
2Hypolipidemic AgentsPhase 1, Phase 2, Phase 02228
3Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 1, Phase 2, Phase 01804
4AntimetabolitesPhase 1, Phase 2, Phase 09454
5Calcium, DietaryPhase 1, Phase 24678
6Atorvastatin CalciumPhase 1, Phase 2714134523-03-8
7
Doxycyclineapproved, investigationalPhase 1219564-25-054671203, 5281011
Synonyms:
(2E,4S,4aR,5S,5aR,6R,12aS)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z,4S,4aR,5S,5aR,6R)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z,4S,4aR,5S,5aR,6R,12aS)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(4S,4AR,5S,5ar,6R,12as)-4-(dimethylamino)-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
(4S,4aR,5S,5aR,6R,12aS)-4-(dimethylamino)-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
10597-92-9
17086-28-1 (mono-hydrate)
2-Naphthacenecarboxamide, 4-(dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-, (4S,4aR,5S,5aR,6R,12aS)
24390-14-5
41411-66-9 (6-epimer, mono-hydrochloride)
5-Hydroxy-alpha-6-deoxytetracycline
564-25-0
6-Deoxyoxytetracycline
6-Deoxytetracycline
6-alpha-Deoxy-5-oxytetracycline
6-alpha-deoxy-5-oxytetracycline
69935-17-7 (mono-hydrochloride, di-hydrate)
6alpha-Deoxy-5-oxytetracycline
6╬▒-deoxy-5-oxytetracycline
7164-70-7
7264-10-0
94088-85-4 (calcium salt (1:2))
AB08 (*Fosfatex)
AC1NQXW7
AC1NS4CW
AC1NUYS8
AC1O8PYM
Adoxa
Alodox
Alti-Doxycycline
Apo-Doxy
Atridox
Azudoxat
BCBcMAP01_000024
BIDD:GT0146
BMY-28689
BPBio1_000951
BSPBio_000863
BSPBio_001936
BU-3839T
C06973
CHEBI:50845
CHEMBL1433
CID5281011
CID5353597
CID5463943
CID6713981
CPD001550033
D07876
DB00254
DMSC (*Fosfatex)
DOXCYCLINE ANHYDROUS
DOXY
DOXYCYCLINE CALCIUM
DOXYCYCLINE MONOHYDRATE
Deoxymykoin
DivK1c_000345
Doryx
Dossiciclina
Dossiciclina [DCIT]
Doxcycline anhydrous
Doxiciclina
Doxiciclina [INN-Spanish]
Doxiciclina [Italian]
Doxitard
Doxivetin
Doxy 100
Doxy-Caps
Doxy-Puren
Doxy-Tabs
Doxycen
Doxychel
Doxychel (TN)
Doxycin
Doxycyclin
Doxycycline
Doxycycline (200mg/day) or Placebo
Doxycycline (INN)
 
Doxycycline (TN)
Doxycycline (anhydrous)
Doxycycline (internal use)
Doxycycline Hyclate
Doxycycline Monohydrate
Doxycycline anhydrous
Doxycycline hyclate
Doxycycline hydrochloride
Doxycycline-Chinoin
Doxycyclinum
Doxycyclinum [INN-Latin]
Doxysol
Doxytec
Doxytetracycline
EINECS 209-271-1
GS-3065 (*monohydrate)
HMS2090E06
HSDB 3071
Hydramycin
IDI1_000345
Investin
Jenacyclin
KBio1_000345
KBio2_001287
KBio2_003855
KBio2_006423
KBio3_001156
KBioGR_001133
KBioSS_001287
LS-187766
LS-93868
Liviatin
Lopac0_000405
MolPort-002-507-423
Monodox
Monodox (*monohydrate)
Morgidox
NCGC00161602-01
NCGC00161602-03
NCGC00161602-04
NCGC00167961-01
NCGC00179395-01
NINDS_000345
NSC633557
Novo-Doxylin
Nu-Doxycycline
Ocudox
Oracea
Prestwick0_000852
Prestwick1_000852
Prestwick2_000852
Prestwick3_000852
Ronaxan
SAM002589932
SMP1_000107
SPBio_000246
SPBio_002784
STOCK1N-34341
Spanor
Spectrum2_000143
Spectrum3_000408
Spectrum4_000527
Spectrum5_000947
Spectrum_000807
Supracyclin
UNII-334895S862
UPCMLD-DP021
UPCMLD-DP021:001
Vibra-tabs
Vibramycin
Vibramycin (*monohydrate)
Vibramycin Monohydrate
Vibramycin Novum
Vibramycine
Vibravenos
Vivox (*Hyclate)
alpha-6-Deoxy-5-hydroxytetracycline
alpha-6-Deoxyoxytetracycline
alpha-Doxycycline
doxycycline
8Antiprotozoal AgentsPhase 11730
9Antiparasitic AgentsPhase 11854
10Anti-Bacterial AgentsPhase 19140
11AntimalarialsPhase 11058
12Anti-Infective AgentsPhase 117220
13
SimvastatinapprovedPhase 049379902-63-954454
Synonyms:
(+)-Simvastatin
(1S,3R,7S,8S,8aR)-8-{2-[(2R,4R)-4-hydroxy-6-oxotetrahydro-2H-pyran-2-yl]ethyl}-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl 2,2-dimethylbutanoate
2,2-Dimethylbutanoic acid (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8aR)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8ar)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
79902-63-9
AC-1530
AC1L1H1F
AKOS005111006
ARONIS24119
BCBcMAP01_000007
BIDD:GT0769
BPBio1_001001
BRD-K22134346-001-05-8
BRN 4768037
BSPBio_000909
BSPBio_002337
Bio-0672
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,*aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
C25H38O5
CCRIS 7558
CHEBI:9150
CHEMBL1064
CID54454
CPD000718785
Cholestat
Coledis
Colemin
Corolin
D00434
D019821
DRG-0320
Denan
DivK1c_006991
Eucor
HMS1570N11
HMS1922H13
HMS2089D12
HMS2093E06
HSDB 7208
InChI=1/C25H38O5/c1-6-25(4,5)24(28)30-21-12-15(2)11-17-8-7-16(3)20(23(17)21)10-9-19-13-18(26)14-22(27)29-19/h7-8,11,15-16,18-21,23,26H,6,9-10,12-14H2,1-5H3/t15-,16-,18+,19+,20-,21-,23-/m0/s1
KBio1_001935
KBio2_002197
KBio2_004765
KBio2_007333
KBio3_001557
KBioGR_001244
KBioSS_002197
KS-1113
Kolestevan
L 644128-000U
LS-46264
Labistatin
Lipex
Lipinorm
Liponorm
Lipovas
Lodales
MK 0733
MK 733
MK-0733
MK-733
MK733
MLS001304029
MLS001333077
MLS001333078
 
MLS002154038
Medipo
Modutrol
MolPort-002-507-345
MolPort-002-885-862
NCGC00017324-01
NCGC00017324-02
NCGC00017324-03
Nivelipol
Nor-Vastina
Pantok
Pepstatin
Prestwick0_000865
Prestwick1_000865
Prestwick2_000865
Prestwick3_000865
Prestwick_171
Rechol
Rendapid
S1792_Selleck
S6196_SIGMA
SAM002589969
SMR000718785
SPBio_001881
SPBio_002830
SPECTRUM1504236
STK801938
Simcor
Simovil
Simvast CR
Simvastatin
Simvastatin & Primycin
Simvastatin (JAN/USP/INN)
Simvastatin [USAN:INN:BAN]
Simvastatin [Usan:Ban:Inn]
Simvastatin lactone
Simvastatin, Compactin
Simvastatina
Simvastatina [Spanish]
Simvastatine
Simvastatine [French]
Simvastatinum
Simvastatinum [Latin]
Simvotin
Sinvacor
Sinvascor
Sivastin
SpecPlus_000895
Spectrum2_001671
Spectrum3_000669
Spectrum4_000632
Spectrum5_001428
Spectrum_001717
Statin
Synvinolin
TNP00259
UNII-AGG2FN16EV
Valemia
Vasotenal
Velostatin
Vytorin
ZINC03780893
Zocor
Zocor (TN)
Zocor, Simlup, Simcard, Simvacor, Simvoget, Zorced, Simvastatin
Zocord
[(1S,3R,7S,8S,8aR)-8-[2-[(2R,4R)-4-hydroxy-6-oxooxan-2-yl]ethyl]-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl] 2,2-dimethylbutanoate
butanoic acid, 2,2-dimethyl-,1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)-ethyl]-1-naphthalenyl ester, [1S-[1 alpha,3 alpha,7 beta,8 beta(2S*,4S*),-8a beta
nchembio790-comp16
simvastatin
14AstragalusNutraceutical48

Interventional clinical trials:

idNameStatusNCT IDPhase
1Intracavernous Bone Marrow Stem-cell Injection for Post Prostatectomy Erectile DysfunctionRecruitingNCT01089387Phase 1, Phase 2
2Atorvastatin Therapy in Cerebral Cavernous Malformation: A Proof of Concept Phase I/II TrialNot yet recruitingNCT02603328Phase 1, Phase 2
3Influence of MMP on Brain AVM HemorrhageCompletedNCT00783523Phase 1
4Permeability MRI in Cerebral Cavernous Malformations Type 1 in New Mexico: Effects of StatinsCompletedNCT01764451Phase 0
5Modifiers of Disease Severity in Cerebral Cavernous MalformationsRecruitingNCT01764529
6Genetic Disease Gene IdentificationEnrolling by invitationNCT00916903

Search NIH Clinical Center for Cavernous Malformation

Genetic Tests for Cavernous Malformation

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Anatomical Context for Cavernous Malformation

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MalaCards organs/tissues related to Cavernous Malformation:

33
Brain, Spinal cord, Endothelial, Bone, Prostate, Heart, Bone marrow

Animal Models for Cavernous Malformation or affiliated genes

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MGI Mouse Phenotypes related to Cavernous Malformation:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.9CCM2L, KRIT1, PDCD10, PTEN
2MP:00053698.5CCM2, CCM2L, KRIT1, PDCD10, PTEN
3MP:00028738.4CCM2, CCM2L, ITGB1BP1, PDCD10, PTEN
4MP:00053918.3CCM2, ITGB1BP1, KRIT1, PDCD10, PTEN

Publications for Cavernous Malformation

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Articles related to Cavernous Malformation:

(show top 50)    (show all 402)
idTitleAuthorsYear
1
Cytochrome P450 and matrix metalloproteinase genetic modifiers of disease severity in Cerebral Cavernous Malformation type 1. (26795600)
2016
2
Hyperintense perilesional edema in the brain on T1-weighted images: Cavernous malformation or metastatic melanoma? Three case reports and literature review. (26838172)
2016
3
Extradural spinal cavernous malformation presenting with radiculopathy. (26386177)
2015
4
Higher Rate of Intracerebral Hemorrhage in Hispanic Patients with Cerebral Cavernous Malformation. (26600922)
2015
5
Cavernous malformation of the optic chiasm: An uncommon location. (25949848)
2015
6
Cerebral cavernous malformations arise independent of the heart of glass receptor. (24643410)
2014
7
Brainstem melanomas presenting as a cavernous malformation. (24856047)
2014
8
Cerebral cavernous malformations and unilateral moyamoya in a patient with a new mutation in the KRIT-1 /CCM1 gene. (25413039)
2014
9
Case Report: Glioblastoma Multiforme Complicating Familial Cavernous Malformations. (23942770)
2013
10
Mapping affected sites of cavernous malformation in the posterior cranial fossa. (23981232)
2013
11
Cavernous malformations of the brain after treatment for acute lymphocytic leukemia: presentation and long-term follow-up. (23215773)
2013
12
Pitfalls of conservative treatments of multiple probable cerebral cavernous malformations (CCMs): clinicopathological features of CCMs coexisting with vasculogenic mimicry in an anaplastic oligodendroglioma. (24337536)
2013
13
Third ventricular cavernous malformation: an unusual lesion. (23952135)
2013
14
Brainstem cavernous malformation. (23761601)
2013
15
Prediction of outcomes for brainstem cavernous malformation. (23962756)
2013
16
Is cerebral cavernous malformation a pre-glioma lesion? (23253728)
2012
17
Familial cerebral cavernous malformation. (22773461)
2012
18
Massive intracerebral hemorrhage caused by a cavernous malformation. (22396841)
2012
19
Multiple spinal cavernous malformations in Klippel-Trenaunay-Weber syndrome. (23161195)
2012
20
Treatment of pediatric patients with cerebral cavernous malformation. (22209396)
2012
21
Crystallization and preliminary X-ray analysis of the C-terminal domain of CCM2, part of a novel adaptor protein involved in cerebral cavernous malformations. (22684070)
2012
22
A novel CCM1 gene mutation causes cerebral cavernous malformation in a Chinese family. (20884211)
2011
23
Loss of cerebral cavernous malformation 3 (Ccm3) in neuroglia leads to CCM and vascular pathology. (21321212)
2011
24
Cavernous malformation of the trochlear nerve: case report and review of the literature on cranial nerve cavernomas. (21471828)
2011
25
Familial versus sporadic cavernous malformations: differences in developmental venous anomaly association and lesion phenotype. (19833796)
2010
26
Intravenous thrombolysis in a patient with known cavernous malformation: a first case report. (20006229)
2010
27
Angiotensin-converting enzyme insertion/deletion gene polymorphism in patients with familial multiple cerebral cavernous malformations. (20488708)
2010
28
Molecular screening test in familial forms of cerebral cavernous malformation: the impact of the Multiplex Ligation-dependent Probe Amplification approach. (19199464)
2009
29
ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations. (18632209)
2008
30
Spinal root arteriovenous malformations and same-segment cord cavernous malformation in familial cerebral cavernous malformation. Case report. (18928219)
2008
31
Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation. (18380023)
2007
32
Spinal intradural-intramedullary cavernous malformation. Case report and literature review. (16357499)
2006
33
Thoracic intramedullary cavernous malformation with posttraumatic hematomyelia: case report and literature review. (17904054)
2006
34
Cavernous malformation of the internal auditory canal. (16572279)
2006
35
Cavernous malformation of the trigeminal nerve. (16565783)
2006
36
A novel deletion mutation in CCM1 gene (krit1) is detected in a Chinese family with cerebral cavernous malformations. (16529293)
2006
37
Expression of integrins in cerebral arteriovenous and cavernous malformations. (16385340)
2006
38
Cerebral cavernous malformations]. (16100539)
2005
39
Thrombus and encapsulated hematoma in cerebral cavernous malformations. (15759126)
2005
40
Novel CCM1 mutation in a patient with paraparesis and thoracic cord cavernous malformation. (16186553)
2005
41
A novel gene mutation (1292 deletion) in a Chinese family with cerebral cavernous malformations. (15854263)
2005
42
Suprasellar cavernous malformation presenting with extensive subarachnoid hemorrhage. (11338416)
2001
43
Chiasmal cavernous malformation. A rare cause of acute visual loss. (11327292)
2000
44
Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1). (10545614)
1999
45
De novo formation of a central nervous system cavernous malformation: implications for predicting risk of hemorrhage. Case report and review of the literature. (9322853)
1997
46
Recurrent chiasmal apoplexy due to cavernous malformation. (8797165)
1996
47
Stereotactically guided cavernous malformation surgery. (8811657)
1996
48
Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. (7604043)
1995
49
50

Variations for Cavernous Malformation

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Expression for genes affiliated with Cavernous Malformation

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Search GEO for disease gene expression data for Cavernous Malformation.

Pathways for genes affiliated with Cavernous Malformation

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GO Terms for genes affiliated with Cavernous Malformation

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Biological processes related to Cavernous Malformation according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of focal adhesion assemblyGO:00518959.9ITGB1BP1, PTEN
2negative regulation of protein bindingGO:00320919.9CCM2L, ITGB1BP1
3negative regulation of ERK1 and ERK2 cascadeGO:00703739.5ITGB1BP1, PTEN
4protein stabilizationGO:00508219.1CCT7, PDCD10, PTEN
5positive regulation of cell proliferationGO:00082848.8ITGB1BP1, PDCD10, PTEN

Sources for Cavernous Malformation

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet