MCID: RCS002
MIFTS: 42

Recessive Dystrophic Epidermolysis Bullosa malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Recessive Dystrophic Epidermolysis Bullosa

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Aliases & Descriptions for Recessive Dystrophic Epidermolysis Bullosa:

Name: Recessive Dystrophic Epidermolysis Bullosa 45 22 24
Hallopeau-Siemens Disease 65
 
Rdeb 22

Classifications:



External Ids:

UMLS65 C0079474

Summaries for Recessive Dystrophic Epidermolysis Bullosa

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MalaCards based summary: Recessive Dystrophic Epidermolysis Bullosa, also known as hallopeau-siemens disease, is related to epidermolysis bullosa dystrophica, ar and epidermolysis bullosa pruriginosa. An important gene associated with Recessive Dystrophic Epidermolysis Bullosa is COL7A1 (Collagen Type VII Alpha 1), and among its related pathways are Syndecan-1-mediated signaling events and Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). Affiliated tissues include breast, lung and liver, and related mouse phenotypes are pigmentation and liver/biliary system.

Related Diseases for Recessive Dystrophic Epidermolysis Bullosa

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Diseases in the Dominant Dystrophic Epidermolysis Bullosa family:

recessive dystrophic epidermolysis bullosa

Diseases related to Recessive Dystrophic Epidermolysis Bullosa via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 269)
idRelated DiseaseScoreTop Affiliating Genes
1epidermolysis bullosa dystrophica, ar33.8COL7A1, MMP1
2epidermolysis bullosa pruriginosa31.7COL7A1, MMP1
3liver disease30.7GGT1, IGFBP3, TGFB1
4fanconi syndrome30.7IGFBP3, TP53
5recessive dystrophic epidermolysis bullosa-generalized other30.4ARG1, CDKN2A, COL7A1, DAPK3, GGT1, HMGB1
6hepatocellular carcinoma28.9ARG1, CDKN2A, GGT1, JUN, TGFB1, TP53
7severe generalized recessive dystrophic epidermolysis bullosa13.0
8centripetalis recessive dystrophic epidermolysis bullosa12.7
9recessive dystrophic epidermolysis bullosa inversa12.7
10neuronitis10.7
11retinitis10.6
12lung cancer10.6
13leukemia10.6
14prostatitis10.6
15melanoma10.6
16ischemia10.6
17aneurysm10.6
18atherosclerosis10.5
19cerebritis10.5
20aortic aneurysm10.5
21pancreatitis10.5
22thyroiditis10.5
23meningitis10.5
24endotheliitis10.5
25severe immunodeficiency, autosomal recessive, t-cell negative, b-cell negative, nk cell-positive10.5COL7A1, MMP1
26prostate cancer10.4
27obesity10.4
28insulin-like growth factor i10.4
29pancreatic cancer10.4
30glomerulonephritis10.4
31hepatitis10.4
32lymphoma10.4
33myeloma10.4
34sarcoma10.4
35aseptic meningitis10.4
36cervicitis10.4
37iga glomerulonephritis10.4
38adenocarcinoma10.4
39abdominal aortic aneurysm10.4
40amyloidosis10.4
41mycobacterium marinum10.4
42chronic ulcer of skin10.4COL7A1, TGFB1
43keratoconus10.3MMP1, TGFB1
44exocrine pancreatic insufficiency10.3COL7A1, MMP1
45schizophrenia10.3
46neuroblastoma10.3
47systemic lupus erythematosus10.3
48neural tube defects10.3
49hiv-110.3
50breast cancer10.3

Graphical network of the top 20 diseases related to Recessive Dystrophic Epidermolysis Bullosa:



Diseases related to recessive dystrophic epidermolysis bullosa

Symptoms for Recessive Dystrophic Epidermolysis Bullosa

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Drugs & Therapeutics for Recessive Dystrophic Epidermolysis Bullosa

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Drugs for Recessive Dystrophic Epidermolysis Bullosa (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1MitogensPhase 1, Phase 21386
2
IsotretinoinapprovedPhase 11154759-48-25538, 5282379
Synonyms:
(13-cis)-Retinoate
(13-cis)-Retinoic acid
(13cis)-retinoic acid
(2Z,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraenoic acid
(2Z,4E6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid
(7E,9E,11E,13Z)-retinoic acid
(7e,9e,11e,13Z)-Retinoic acid
13 Cis-Retinoic Acid
13 cis retinoic acid
13-RA
13-cis RA
13-cis retinoic acid
13-cis-Retinoate
13-cis-Retinoic acid
13-cis-Vitamin A acid
13-cis-Vitamin a acid
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)2-cis-4-trans-6-trans-8-trans-nonatetraenoic acid
4-09-00-02388 (Beilstein Handbook Reference)
4759-48-2
97950-17-9
AC-15388
AC1NQZZ4
Absorica
Accutane
Accutane (TN)
Ambap302-79-4
Amnesteem
BML2-E07
BPBio1_000080
BRD-K76723084-001-05-9
BRN 1885770
BSPBio_000072
BSPBio_001331
BSPBio_003345
CCRIS 4286
CHEBI:6067
CHEMBL547
CID5282379
CIP-Isotretinoin
CPD000471891
Claravis
Clarus
D00348
D015474
EINECS 225-296-0
EU-0101081
Epuris
HMS1361C13
HMS1568D14
HMS1791C13
HMS1921D08
HMS1989C13
HMS2092N07
HSDB 3929
IDI1_033801
Isotane
Isotretinoin
Isotretinoin (USP)
 
Isotretinoin Retinoic acid
Isotretinoin Zinc Salt, 13 cis Isomer
Isotretinoin Zinc Salt, 13-cis-Isomer
Isotretinoin [USAN:BAN:INN]
Isotretinoin [USAN:INN:BAN]
Isotretinoina
Isotretinoine
Isotretinoine [INN-French]
Isotretinoino
Isotretinoino [INN-Spanish]
Isotretinoinum
Isotretinoinum [INN-Latin]
Isotrex
LMPR01090021
LS-143465
Lopac0_001081
MLS001074662
MolPort-003-666-394
Myorisan
NCGC00094358-01
NCGC00094358-02
NCGC00094358-03
NCGC00094358-04
NCGC00094358-05
NCGC00094358-06
NCGC00094358-07
NCGC00094358-08
NCGC00094358-09
NCGC00094358-13
Neovitamin A acid
Neovitamin a acid
Prestwick2_000256
Prestwick3_000256
Prestwick_642
R 3255
R3255_SIGMA
Retinoate
Retinoic acid
Ro 4 3780
Ro 4-3780
Ro 43780
Ro-4-3780
Ro-43780
Roaccutan
Roaccutane
Roacutan
SAM002548955
SMR000471891
SPECTRUM1502013
Sotret
Sotret (TN)
Spectrum5_001795
Spectrum5_001937
Teriosal
UNII-EH28UP18IF
Zenatane
cis-RA
cis-Retinoate
cis-Retinoic acid
isotretinoino
3Dermatologic AgentsPhase 14555
4
Edetic Acidapproved5462-33-96049
Synonyms:
(Ethylenedinitrilo)tetraacetic acid, ion(4-)
2,2',2'',2'''-(ethane-1,2-diyldinitrilo)tetraacetate
Acide edetique
Acide ethylenediaminetetracetique
Acido edetico
Acidum edeticum
CaEDTA
Calcium Disodium Edetate (JAN)
Calcium Disodium Versenate
Calcium disodium versenate (TN)
EDT
 
EDTA
EDTA, ion(4-)
Edetate Calcium
Edetate calcium disodium
Edetate calcium disodium (USP)
Edetate disodium
Edetic acid
Ethylenediaminetetraacetate
Ethylenediaminetetraacetic acid
H4Edta
N,N'-1,2-Ethane diylbis-(N-(carboxymethyl)glycine)
{[-(bis-carboxymethyl-amino)-ethyl]-carboxymethyl-amino}-acetic acid
5
Heparinapproved, investigational7199005-49-6772, 46507594
Synonyms:
101921-26-0
102-94-3
102785-31-9
104521-37-1
11078-24-3
11129-39-8
12656-11-0
2-o-sulfohexopyranuronosyl-(1->4)-2-deoxy-3-o-sulfo-2-(sulfoamino)hexopyranosyl-(1->4)-2-o-sulfohexopyranuronosyl-(1->4)-2-acetamido-2-deoxy-6-o-sulfohexopyranose
37324-73-5
6-[6-[6-[5-acetamido-4,6-dihydroxy-2-(sulfooxymethyl)oxan-3-yl]oxy-2-carboxy-4-hydroxy-5-sulfooxyoxan-3-yl]oxy-2-(hydroxymethyl)-5-(sulfoamino)-4-sulfooxyoxan-3-yl]oxy-3,4-dihydroxy-5-sulfooxyoxane-2-carboxylic acid
9041-08-1
9045-22-1
9075-96-1
913079-23-9
91449-79-5
AC1L19ZN
AC1L1ROY
ALFA 87-120
ALFA 87-163
ALFA 87-198
ALFA 87-81
ALFA 88-247
AR-1E4539
Allocinnamic acid
Ardeparin
Ardeparin sodium
Arteven
Bemiparin
Bemiparin sodium
CID772
CID8784
CY 216
Calciparine
Certoparin
Clexane
Clivarin
Clivarine
Cy 222
D006495
D017984
DB00407
DB01225
Dalteparin
Dalteparin sodium
Depo-Heparin
EINECS 232-681-7
EMT 966
EMT 967
EMT-966
EMT-967
EMT966
EMT967
Enoxaparin
Enoxaparin sodium
Enoxaparine
Eparina
Eparina [DCIT]
FR 860
Fluxum
Fragmin A
Fragmin B
Fragmin IV
Fraxiparin
H 2149
HSDB 3094
Hed-heparin
Hep Flush Kit in plastic container
Hep-Lock
Hep-Lock U/P
Hep-lock
Heparin
Heparin CY 216
Heparin Lock Flush
Heparin Lock Flush in plastic container
Heparin Lock Flush preservative free
Heparin Lock Flush preservative free in plastic container
Heparin Sodium
Heparin natrium
Heparin sodium
Heparin sodium 1,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 1,000 units in dextrose 5% in plastic container
Heparin sodium 1,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 10,000 units in dextrose 5%
Heparin sodium 10,000 units in dextrose 5% in plastic container
Heparin sodium 10,000 units in sodium chloride 0.45%
Heparin sodium 10,000 units in sodium chloride 0.9%
Heparin sodium 12,500 units in dextrose 5%
Heparin sodium 12,500 units in dextrose 5% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.45% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.9%
Heparin sodium 2,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 2,000 units in dextrose 5% in plastic container
Heparin sodium 2,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 20,000 units and dextrose 5% in plastic container
Heparin sodium 20,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units and dextrose 5% in plastic container
 
Heparin sodium 25,000 units in dextrose 5%
Heparin sodium 25,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.45% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.9%
Heparin sodium 25,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units in dextrose 5% in plastic container
Heparin sodium 5,000 units in sodium chloride 0.45%
Heparin sodium 5,000 units in sodium chloride 0.9%
Heparin sodium 5,000 units in sodium chloride 0.9% in plastic container
Heparin sodium in plastic container
Heparin sodium preservative Free
Heparin sulfate
Heparin sulphate
Heparin, Low Molecular Weight
Heparin, Low-Molecular-Weight
Heparin, sodium salt
Heparina
Heparina [INN-Spanish]
Heparinate
Heparine
Heparine [INN-French]
Heparinic acid
Heparinsodiumsalt
Heparinum
Heparinum [INN-Latin]
Heparinum natricum
Hepathrom
Hepflush-10
Inno-Hep
Innohep
Isocinnamic acid
KB 101
Kabi 2165
LHN 1
LMWH
Lioton 1000
Lipo-hepin
Liquaemin
Liquaemin Lock Flush
Liquaemin Sodium
Liquaemin sodium preservative free
Liquemin
Logiparin
Lovenox
Lovenox HP
Low Molecular Weight Heparin
Low molecular weight heparin
Low molecular weight heparin sodium
Low-Molecular-Weight Heparin
Minolteparin sodium
MolPort-003-760-257
Multiparin
NSC174025
Nadroparin
Nadroparine
Novoheparin
OP 386
OP 622
Octaparin
PK 10,169
PK-10,169
PK-10169
PK10,169
PK10169
Pabyrin
Panheprin
Parnaparin
Parnaparin sodium
Parvoparin
Pularin
Reviparin
Reviparin sodium
Ro 11
Sandoparin
Sodium acid heparin
Sodium heparin
Sodium heparinate
Subeparin
Sublingula
Thromboliquine
Tinzaparin
Tinzaparin sodium
Triofiban
UNII-12M44VTJ7B
UNII-3S182ET3UA
UNII-E47C0NF7LV
UNII-T2410KM04A
UNII-ZZ45AB24CA
Vetren
Vitrum AB
WY 90493RD
alpha-Heparin
cis-.beta.-Carboxystyrene
cis-Cinnamic acid
enoxaparin
heparin
6
LorazepamapprovedPhase 0112846-49-13958
Synonyms:
(+-)-7-Chloro-5-(o-chlorophenyl)-1,3-dihydro-3-hydroxy-2H-1,4-benzodiazepin-2-one
(+/-)-Lorazepam
(±)-Lorazepam
5-25-02-00248 (Beilstein Handbook Reference)
7-Chloro-5-(2-chlorophenyl)-1,3-dihydro-3-hydroxy-2H-1,4-benzodiazepin-2-one
7-Chloro-5-(2-chlorophenyl)-3-hydroxy-1,3-dihydro-2H-1,4-benzodiazepin-2-one
7-Chloro-5-(2-chlorophenyl)-3-hydroxy-1H-1,4-benzodiazepin-2(3H)-one
7-Chloro-5-(o-chlorophenyl)-1,3-dihydro-3-hydroxy-2H-1,4-benzodiazepin-2-one
7-chloro-5-(2-chlorophenyl)-3-hydroxy-1,3-dihydro-1,4-benzodiazepin-2-one
846-49-1
AC1L1H3H
AHP Brand of Lorazepam
Almazine
Alzapam
Anxiedin
Anxira
Anzepam
Aplacasse
Aplacassee
Apo Lorazepam
Apo-Lorazepam
ApoLorazepam
Apotex Brand of Lorazepam
Aripax
Ativan
Ativan (TN)
Azurogen
BRN 0759084
Baxter Brand of Lorazepam
Bonatranquan
Bonton
CHEBI:116959
CHEMBL580
CID3958
CPD000058410
D00365
D008140
DB00186
DEA No. 2885
Delormetazepam
Demethyllormetazepam
Desitin Brand of Lorazepam
DivK1c_000965
Dolorgiet Brand of Lorazepam
Donix
Duralozam
Durazolam
EINECS 212-687-6
Efasedan
Emotion
Emotival
Equitam
HMS2052H07
HMS503A11
IDI1_000965
Idalprem
KBio1_000965
Kalmalin
L-Lorazepam Acetate
L1764_SIGMA
LS-34141
Larpose
Laubeel
Llorens Brand of Lorazepam
Lomesta
Lopam
Lorabenz
Lorafen
Loram
Lorans
Lorapam
Lorat
Lorax
Loraz
Lorazene
Lorazep
Lorazepam
Lorazepam (JP15/USP/INN)
Lorazepam AHP Brand
Lorazepam Apotex Brand
Lorazepam Baxter Brand
Lorazepam Desitin Brand
Lorazepam Dolorgiet Brand
Lorazepam Fabra
Lorazepam Genericon
Lorazepam Intensol
Lorazepam Lannacher
Lorazepam Llorens Brand
Lorazepam Medical
Lorazepam Medical Brand
Lorazepam Medix Brand
Lorazepam Novartis Brand
Lorazepam Novopharm Brand
Lorazepam Nu-Pharm Brand
Lorazepam Riemser Brand
Lorazepam Wyeth Brand
Lorazepam [USAN:INN:BAN:JAN]
 
Lorazepam ct-Arzneimittel Brand
Lorazepam neuraxpharm
Lorazepam neuraxpharm Brand
Lorazepam preservative free
Lorazepam ratiopharm
Lorazepam ratiopharm Brand
Lorazepam-Efeka
Lorazepam-neuraxpharm
Lorazepam-ratiopharm
Lorazepamum
Lorazepamum [INN-Latin]
Lorazepan Chobet
Lorazepan Richet
Lorazin
Lorazon
Lorenin
Loridem
Lorivan
Lormetazepam
Lorsedal
Lorsilan
Lorzem
Lozepam
Max Pax
Medical Brand of Lorazepam
Medical, Lorazepam
Medix Brand of Lorazepam
Merck dura Brand of Lorazepam
Merlit
Methyllorazepam
MolPort-002-051-769
N-Methyllorazepam
NCGC00159439-02
NINDS_000965
NSC 289758
NSC289758
Nervistop L
Nervistopl
Norlormetazepam
Novartis Brand of Lorazepam
Novhepar
Novo Lorazem
Novo-Lorazem
Novolorazem
Novopharm Brand of Lorazepam
Nu Loraz
Nu Pharm Brand of Lorazepam
Nu-Loraz
Nu-Pharm Brand of Lorazepam
NuLoraz
O-Chlorooxazepam
O-Chloroxazepam
Orfidal
Orfidal Wyeth
Pro Dorm
Pro dorm
Psicopax
Punktyl
Quait
Renaquil
Riemser Brand of Lorazepam
Rocosgen
SAM001246833
Securit
Sedatival
Sedazin
Sedicepan
Sedizepan
Serra Pamies Brand of Lorazepam
Sidenar
Silence
Sinestron
Somagerol
Stapam
Tavor
Temesta
Tolid
Tranqipam
Trapax
UNII-O26FZP769L
Upan
Vigiten
WLN: T67 GMV JN IHJ CG IQ KR BG
WY4036
Wy 4036
Wy-4036
Wyeth Brand of Lorazepam
Wyeth, Orfidal
Wypax
ct Arzneimittel Brand of Lorazepam
ct-Arzneimittel Brand of Lorazepam
lorazep von ct
lorazepam
lorazepam (Ativan)
nchembio747-comp26
neuraxpharm Brand of Lorazepam
o-Chlorooxazepam
o-Chloroxazepam
ratiopharm Brand of Lorazepam
7
Tacrolimusapproved, investigationalPhase 01023104987-11-3445643, 439492, 445647
Synonyms:
(-)-FK 506
(3S,4R,5S,8R,9E,12S,14S,15R,16S,18R,19R,26aS)-5,19-dihydroxy-3-{(1E)-1-[(1R,3R,4R)-4-hydroxy-3-methoxycyclohexyl]prop-1-en-2-yl}-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(prop-2-en-1-yl)-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-3H-15,19-epoxypyrido[2,1-c][1,4]oxazacyclotricosine-1,7,20,21(4H,23H)-tetrone
104987-11-3
109581-93-3 (Hydrate)
15,19-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclotricosine-1,7,20,21(23H)-tetrone,
3S-[3R*[E(1S*,3S*,4S*)],4S*,5R*,8S*,9E,12R*,14R*,15S*,16R*,18S*,19S*,26aR*]]-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-5, 19-dihydroxy-3-[2-(4-hydroxy-3-methoxycyclohexyl)-1-methylethenyl]-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(2-propenyl)-15,19-epoxy-3H-pyrido[2,1-c] [1,4] oxaazacyclotricosine-1,7,20,21(4H,23H)-tetrone
8-DEETHYL-8-[BUT-3-ENYL]-ASCOMYCIN
8-DEETHYL-8-[but-3-enyl]-ascomycin
AC-1182
AC1L1K7H
AC1L97GB
AC1L9IBU
AKOS005145901
Advagraf
Ambap104987-11-3
Ambap5429
BCBcMAP01_000194
BRD-K35452788-001-02-1
BSPBio-001279
BSPBio_001279
Bio-0921
Bio2_000470
Bio2_000950
C01375
C44H69NO10
CCRIS 7124
CHEBI:100924
CHEBI:61049
CHEMBL1200738
CID11158639
CID11556866
CID439492
CID445643
CID5372
CID5472317
CID6426916
CID6436007
CID6473866
CID6536850
CID6610362
CID6912836
CID9832283
CID9853905
CID9918805
CID9940643
CID9963169
CPD-10016
CPD000466356
D08556
DB00864
DivK1c_001040
FK 506
FK-506
FK5
FK506
FR 900506
FR-900506
FR900506
 
FT-0082660
Fk-506
Fujimycin
Graceptor
HMS1362O21
HMS1792O21
HMS1990O21
HMS2051C18
HMS2093M19
HMS503O21
Hecoria
IDI1_001040
IDI1_002225
K506
KBio1_001040
KBio2_000619
KBio2_003187
KBio2_005755
KBio3_001097
KBio3_001098
KBioGR_000619
KBioSS_000619
L 679934
L-679934
LCP-Tacro
LMPK04000003
LS-64247
MLS000759471
MLS001424054
Modigraf
MolPort-003-666-518
NCGC00163470-01
NCGC00163470-02
NCGC00163470-03
NCGC00163470-04
NCGC00179232-01
NChemBio.2007.16-comp1
NINDS_001040
NSC717865
Prograf
Prograf (TN)
Protopic
Protopy
S5003_Selleck
SAM001246677
SMR000466356
Tacarolimus
Tacrolimus
Tacrolimus (INN)
Tacrolimus (Prograf?)
Tacrolimus (anhydrous)
Tacrolimus Hydrate
Tacrolimus anhydrous
Tacrolimus hydrate
Tsukubaenolide
UNII-Y5L2157C4J
nchembio.2007.23-comp2
tacrolimus
tacrolimus hydrate
8
alemtuzumabapproved, investigationalPhase 0302216503-57-0
Synonyms:
Campath
 
Lemtrada
Mabcampath
alemtuzumab
9
FludarabineapprovedPhase 0105921679-14-1, 75607-67-930751
Synonyms:
(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
2-F-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-Fluoro-ara AMP
2-Fluoroadenine arabinoside 5'-monophosphate
21679-14-1
2F-Ara-AMP
9-beta-Arabinofuranosyl-2-fluoroadenine-5'-phosphate
9-beta-D-Arabinofuranosyl-2-fluoroadenine
9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphate)
9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphate
9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine
9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)
AC1LCW8I
AC1Q51CF
C10H12FN5O4
CCRIS 3382
CHEMBL1568
CID657237
CPD000058874
D07966
EINECS 244-525-5
F-Ara-A
FAMP
FT-0082766
FaraA
Fludara
 
Fludara, Fludarabine
Fludarabina
Fludarabina [Spanish]
Fludarabine
Fludarabine (INN)
Fludarabine 5'-monophosphate
Fludarabine Phosphate
Fludarabine [INN]
Fludarabine monophosphate
Fludarabine phosphate
Fludarabinum
Fludarabinum [Latin]
Fludura
Fluradosa
Fluradosa (TN)
HSDB 6964
I14-4978
LS-15061
MLS000028687
NSC 118218
NSC 118218H
NSC-118218
Oforta
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
10
Busulfanapproved, investigationalPhase 050655-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
11
Cyclophosphamideapproved, investigational264350-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
DB00531
 
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
12Petrolatum84
13Antibodies4477
14Autoantibodies117
15Immunoglobulins4477
16calcium heparin719
17Pentetic Acid54
18Fludarabine phosphatePhase 0105930751
19Gentamicins123
20Anti-Bacterial Agents9140
21Antibiotics, Antitubercular5971
22Anti-Infective Agents17220
23Immunosuppressive Agents10422
24Immunologic Factors18483
25Antimetabolites, Antineoplastic5770
26Antimetabolites9454

Interventional clinical trials:

(show all 18)
idNameStatusNCT IDPhase
1A Comparative Study of the Healing of Chronic Ulcers of Recessive Epidermolysis Bullosa : Dressing vs Amniotic MembraneRecruitingNCT02286427Phase 3
2Study of Efficacy and Safety of SD-101 Cream in Patients With Epidermolysis BullosaRecruitingNCT02384460Phase 3
3Study of Effectiveness and Safety of SD-101 in Subjects With Epidermolysis BullosaCompletedNCT02014376Phase 2
4Mesenchymal Stromal Cells in Adults With Recessive Dystrophic Epidermolysis BullosaRecruitingNCT02323789Phase 1, Phase 2
5Phase I Study of Isotretinoin in Patients With Recessive Dystrophic Epidermolysis BullosaCompletedNCT00014729Phase 1
6Autologous Transplantation of Cultured Fibroblast on Amniotic Membrane in Patients With Epidermolysis BullosaCompletedNCT01908088Phase 1
7Safety Study of Gene-modified Autologous Fibroblasts in Recessive Dystrophic Epidermolysis BullosaRecruitingNCT02493816Phase 1
8Gene Transfer for Recessive Dystrophic Epidermolysis BullosaRecruitingNCT01263379Phase 1
9Characteristics of Adult Patients With Recessive Dystrophic Epidermolysis BullosaCompletedNCT00904163
10Treatment of Chronic and Non-Chronic Wounds in Patients With Recessive Dystrophic Epidermolysis Bullosa Using Helicoll Collagen Dressings Versus Standard of CareCompletedNCT01716169
11Study of Immune Tolerance and Capacity for Wound Healing of Patients With Recessive Dystrophic Epidermolysis Bullosa (RDEB)RecruitingNCT01874769
12Characteristics of Patients With Recessive Dystrophic Epidermolysis BullosaRecruitingNCT01019148
13Allogeneic Stem Cell Transplantation (ALLOSCT) in Recessive Dystrophic Epidermolysis Bullosa (RDEB)Active, not recruitingNCT00881556Phase 0
14Open Label Extension Study to Evaluate the Safety of SD-101 Cream in Subjects With Epidermolysis BullosaActive, not recruitingNCT02090283
15Open Label Extension Study to Evaluate the Long-term Safety of Zorblisa (SD-101-6.0) in Patients With Epidermolysis BullosaActive, not recruitingNCT02670330
16Gentamicin Therapy for Recessive Dystrophic Epidermolysis Bullosa (RDEB) Nonsense Mutation PatientsEnrolling by invitationNCT02698735
17Recessive Dystrophic Epidermolysis Bullosa Screening for Possible Gene TransferTerminatedNCT00533572
18Allogeneic Hematopoietic Stem Cell Transplant For Epidermolysis BullosaTerminatedNCT00478244

Search NIH Clinical Center for Recessive Dystrophic Epidermolysis Bullosa

Genetic Tests for Recessive Dystrophic Epidermolysis Bullosa

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Genetic tests related to Recessive Dystrophic Epidermolysis Bullosa:

id Genetic test Affiliating Genes
1 Recessive Dystrophic Epidermolysis Bullosa22

Anatomical Context for Recessive Dystrophic Epidermolysis Bullosa

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MalaCards organs/tissues related to Recessive Dystrophic Epidermolysis Bullosa:

33
Breast, Lung, Liver, Myeloid, Prostate, Thyroid, Bone

Animal Models for Recessive Dystrophic Epidermolysis Bullosa or affiliated genes

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MGI Mouse Phenotypes related to Recessive Dystrophic Epidermolysis Bullosa:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.2CDKN2A, GGT1, IGFBP3, TP53
2MP:00053707.6ARG1, CDKN2A, IGFBP3, JUN, SLCO1B3, TGFB1
3MP:00107717.3CDKN2A, COL7A1, GGT1, IGFBP3, JUN, TGFB1
4MP:00053766.6ARG1, CDKN2A, GGT1, IGFBP3, JUN, MMP1

Publications for Recessive Dystrophic Epidermolysis Bullosa

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Articles related to Recessive Dystrophic Epidermolysis Bullosa:

(show top 50)    (show all 308)
idTitleAuthorsYear
1
Vasculitis, cerebral infarction and persistent Bartonella henselae infection in a child. (27161220)
2016
2
Frequency and types of chromosomal abnormalities in Turkish women with amenorrhea. (25023981)
2014
3
Congenital hypertrophy of retinal pigment epithelium (CHRPE) in patients with familial adenomatous polyposis (FAP); a polyposis registry experience. (25326340)
2014
4
Cognitive and affective perspectives on formation and maintenance of grandiose delusions of a patient with schizophrenia. (24374488)
2013
5
Neural predictors and mechanisms of cognitive behavioral therapy on threat processing in social anxiety disorder. (23665375)
2013
6
Redox control of the senescence regulator interleukin-1I+ and the secretory phenotype. (24062309)
2013
7
Clopidogrel reduces post-transplant obliterative bronchiolitis. (23952051)
2013
8
Risk factors for sorafenib-induced high-grade skin rash in Japanese patients with advanced renal cell carcinoma. (23237922)
2013
9
A meta-analysis of the relationship of the Parkin p.Val380Leu polymorphism to Parkinson's disease. (23436552)
2013
10
Giant cell phlebitis: a potentially lethal clinical entity. (22859384)
2012
11
Biometric relationships of ocular components in esotropic amblyopia. (22552416)
2012
12
Hyaluronic acid derivatives and their healing effect on burns, epithelial surgical wounds, and chronic wounds: a systematic review and meta-analysis of randomized controlled trials. (22564227)
2012
13
Higher incidence of carotid stenosis in patients with central retinal artery occlusion. (20384592)
2011
14
The management of subependymal giant cell tumors in tuberous sclerosis: a clinician's perspective. (21305305)
2011
15
Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. (22184204)
2011
16
Down-regulation of TSG101 by small interfering RNA inhibits the proliferation of breast cancer cells through the MAPK/ERK signal pathway. (21117030)
2011
17
Expression of NDRG2 in esophageal squamous cell carcinoma. (20331630)
2010
18
Outcome of treatment of human HeLa cervical cancer cells with roscovitine strongly depends on the dosage and cell cycle status prior to the treatment. (19180585)
2009
19
A glucocorticoid receptor gene haplotype (TthIII1/ER22/23EK/9beta) is associated with a more aggressive disease course in multiple sclerosis. (19318444)
2009
20
Discovery of a new family of bis-8-hydroxyquinoline substituted benzylamines with pro-apoptotic activity in cancer cells: synthesis, structure-activity relationship, and action mechanism studies. (18485536)
2009
21
Tumour necrosis factor alpha upregulates platelet CD40L in patients with heart failure. (18281372)
2008
22
Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease. (18426830)
2008
23
Sequence variation at the human FOXO3 locus: a study of premature ovarian failure and primary amenorrhea. (17959613)
2008
24
A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice. (17656374)
2007
25
Neurotoxicity mechanisms of thioether ecstasy metabolites. (17467183)
2007
26
Spindle cell metaplasia arising in thyroid adenoma: characterization of its pathology and differential diagnosis. (16610245)
2006
27
Effect of corticosteroids in the acute management of pediatric orbital cellulitis with subperiosteal abscess. (16234700)
2005
28
Combination of "atypical" antipsychotic medication in the management of treatment-resistant schizophrenia and schizoaffective disorder. (14687862)
2004
29
Prospective analysis of HLA classes I and II antigen frequency in patients with Peyronie's disease. (14501786)
2003
30
Gab1 is an integrator of cell death versus cell survival signals in oxidative stress. (12808090)
2003
31
Prospective cross-sectional study of haemostatic factors in patients with and without coronary artery disease. (11914649)
2002
32
Visualization of annexin I binding to calcium-induced phosphatidylserine domains. (11828493)
2001
33
Permeability of proteins at the blood-brain barrier in the normal adult mouse and double transgenic mouse model of Alzheimer's disease. (11493021)
2001
34
Epidural abscess after epidural catheter for pain release during pancreatitis. (10981585)
2000
35
Dentin malformation with alveolar bone loss and periapical abscess formation. (10197342)
1999
36
p53 and Bax protein expression as predictor of chemotherapeutic effect in gastric carcinoma]. (9589042)
1998
37
On-line HPLC-tandem mass spectrometry structural characterization of case-associated contaminants of L-tryptophan implicated with the onset of eosinophilia myalgia syndrome. (9817085)
1998
38
Recombinant follicle-stimulating hormone (follitropin beta, Puregon) yields higher pregnancy rates in in vitro fertilization than urinary gonadotropins. (9207599)
1997
39
Constitutive amplification of a zinc finger protein gene in cattle. (8561900)
1996
40
Incidence and risk factors of post-traumatic epilepsy in childhood. (7823678)
1995
41
Two novel mutations involved in hereditary tyrosinemia type I. (7757089)
1995
42
Analysis of the intracellular localization and assembly of Ro ribonucleoprotein particles by microinjection into Xenopus laevis oocytes. (8195301)
1994
43
Role of the integrin alpha v beta 6 in cell attachment to fibronectin. Heterologous expression of intact and secreted forms of the receptor. (8120056)
1994
44
Loss of responses to bradykinin, ATP or carbachol follows depletion of a shared pool of calcium ions. (8050477)
1994
45
c-fps/fes protein-tyrosine kinase is implicated in a signaling pathway triggered by granulocyte-macrophage colony-stimulating factor and interleukin-3. (7682176)
1993
46
Biphasic effects of interleukin-1 alpha on dermal fibroblasts: enhancement of chemotactic responsiveness at low concentrations and of mRNA expression for collagenase at high concentrations. (8496618)
1993
47
Natural history and clinical behavior of in situ carcinoma of the human urinary bladder. 1964. (8242437)
1993
48
Asphyxiating thoracic dystrophy. (3225053)
1988
49
Trichinosis--a scientific homespun diagnosis. (13718818)
1961
50
Increase in the morbidity of meningococcal meningitis in the Netherlands. (13473700)
1957

Variations for Recessive Dystrophic Epidermolysis Bullosa

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Expression for genes affiliated with Recessive Dystrophic Epidermolysis Bullosa

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Search GEO for disease gene expression data for Recessive Dystrophic Epidermolysis Bullosa.

Pathways for genes affiliated with Recessive Dystrophic Epidermolysis Bullosa

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Pathways related to Recessive Dystrophic Epidermolysis Bullosa according to GeneCards Suite gene sharing:

(show all 20)
idSuper pathwaysScoreTop Affiliating Genes
19.9MMP1, TGFB1
29.8IGFBP3, MMP1
39.6JUN, MMP1, TGFB1
49.3MMP1, TGFB1, TP53
59.3ARG1, TGFB1, TP53
69.2JUN, TGFB1, TP53
79.2JUN, MMP1, TP53
89.2JUN, MMP1, TP53
99.1IGFBP3, JUN, TP53
10
Show member pathways
9.0CDKN2A, TP53
119.0CDKN2A, TP53
128.9IGFBP3, JUN, TGFB1, TP53
13
Show member pathways
8.8CDKN2A, TGFB1, TP53
14
Show member pathways
8.7CDKN2A, IGFBP3, TP53
158.7CDKN2A, JUN, TP53
168.4CDKN2A, JUN, TGFB1, TP53
178.2CDKN2A, DAPK3, MMP1, TP53
188.0CDKN2A, IGFBP3, JUN, TGFB1, TP53
19
Show member pathways
7.9CDKN2A, IGFBP3, JUN, TGFB1, TP53
207.6CDKN2A, DAPK3, JUN, MMP1, TGFB1, TP53

GO Terms for genes affiliated with Recessive Dystrophic Epidermolysis Bullosa

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Biological processes related to Recessive Dystrophic Epidermolysis Bullosa according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1SMAD protein import into nucleusGO:000718410.5JUN, TGFB1
2response to radiationGO:000931410.4JUN, TGFB1
3positive regulation of histone deacetylationGO:003106510.2TGFB1, TP53
4positive regulation of protein oligomerizationGO:003246110.0MMP1, TP53
5chromatin assemblyGO:003149710.0HMGB1, TP53
6regulation of autophagyGO:001050610.0DAPK3, HMGB1
7base-excision repairGO:00062849.9HMGB1, TP53
8cell cycle arrestGO:00070509.3CDKN2A, TGFB1, TP53
9replicative senescenceGO:00903998.9CDKN2A, TP53
10positive regulation of transcription from RNA polymerase II promoterGO:00459447.9CDKN2A, HMGB1, JUN, TGFB1, TP53
11apoptotic processGO:00069157.7CDKN2A, DAPK3, HMGB1, IGFBP3, TP53

Sources for Recessive Dystrophic Epidermolysis Bullosa

About this section
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