MCID: LCT008
MIFTS: 14

Lactate Dehydrogenase Deficiency malady

Category: Rare diseases

Aliases & Classifications for Lactate Dehydrogenase Deficiency

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Aliases & Descriptions for Lactate Dehydrogenase Deficiency:

Name: Lactate Dehydrogenase Deficiency 45 23 65
Lactate Dehydrogenase Subunit Deficiencies 23
 
Deficiency of Lactate Dehydrogenase 23
Ldh Deficiency 23

Classifications:



External Ids:

UMLS65 C0342769

Summaries for Lactate Dehydrogenase Deficiency

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NIH Rare Diseases:45 Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. there are two types of lactate dehydrogenase deficiency: lactate dehydrogenase a deficiency (sometimes called glycogen storage disease xi) and lactate dehydrogenase b deficiency. people with lactate dehydrogenase a deficiency experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). people with lactate dehydrogenase b deficiency typically do not have symptoms. lactate dehydrogenase a deficiency is caused by mutations in the ldha gene. lactate dehydrogenase b deficiency is caused by mutations in the ldhb gene. both types are inherited in an autosomal recessive pattern. last updated: 12/27/2012

MalaCards based summary: Lactate Dehydrogenase Deficiency, also known as lactate dehydrogenase subunit deficiencies, is related to glycogen storage disease due to lactate dehydrogenase deficiency and lactate dehydrogenase deficiency type c. Affiliated tissues include bone, bone marrow and liver.

Genetics Home Reference:23 Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells.

Wikipedia:68 Lactate dehydrogenase (LDH or LD) is an enzyme found in nearly all living cells (animals, plants, and... more...

Related Diseases for Lactate Dehydrogenase Deficiency

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Diseases related to Lactate Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease due to lactate dehydrogenase deficiency12.6
2lactate dehydrogenase deficiency type c12.5
3fanconi-bickel syndrome11.7
4lactate dehydrogenase b deficiency11.7
5arrhythmogenic right ventricular cardiomyopathy10.0
6lathyrism10.0
7cardiomyopathy10.0

Graphical network of diseases related to Lactate Dehydrogenase Deficiency:



Diseases related to lactate dehydrogenase deficiency

Symptoms for Lactate Dehydrogenase Deficiency

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Drugs & Therapeutics for Lactate Dehydrogenase Deficiency

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Drugs for Lactate Dehydrogenase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 27)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Emtricitabineapproved, investigationalPhase 3394143491-57-060877
Synonyms:
(-)-(2R,5S)-5-Fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(-)-(2R,5S)-5-fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
(-)-.beta.-L-FTC
(-)-2',3'-Dideoxy-5-fluoro-3'-thiacytidine
(-)-2'-Deoxy-5-fluoro-3'-thiacytidine
(-)-FTC
(-)-beta-2',3'-Dideoxy-5-fluoro-3'-thiacytidine
(-)-beta-2',3'-dideoxy-5-fluoro-3'-thiacytidine
(-)-cis-4-amino-5-Fluoro-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one
(-)-cis-4-amino-5-fluoro-1-(2-hydroxymethyl-1,3-oxathiolan-5-yl)-(1H)-pyrimidin-2-one
(2R-cis)-4-Amino-5-fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone
(2R-cis)-4-amino-5-Fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)-2(1H)-pyrimidinone
.beta.-L-(-)-(2R,5S)-5-Fluoro-1-[2-(hydroxymethyl)-1,3-oxathiolan-5-yl]cytosine
1-(2-(Hydroxymethyl)oxathiolan-5-yl)-5-fluorocytosine
143491-54-7
143491-57-0
145213-48-5
2',3',5-FTC
2',3'-Dideoxy-5-fluoro-3'-thiacytidine
2'-Deoxy-5-fluoro-3'-oxa-4'-thiocytidine
2'-Deoxy-5-fluoro-3'-thiacytidine
2-FTC
3'-Thia-2'.3'-dideoxy-5-fluorocytidine
4-Amino-5-fluoro-1-((2R,5S)-2-hydroxymethyl-[1,3]oxathiolan-5-yl)-1H-pyrimidin-2-one
4-Amino-5-fluoro-1-[(2R,5S)-(hydroxymethyl)-1,3-oxathiolan-5-yl]-2(1H)-pyrimidinone
4-amino-5-Fluoro-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)pyrimidin-2(1H)-one
4-amino-5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2(1H)-one
4-amino-5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl]pyrimidin-2-one
5-Fluoro-1-((2R,5S)-2-(hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine
5-Fluoro-1-(2-(hydroxymethyl)-1,3-oxathiolan-5-yl)cytosine
5-fluoro-1-[(2R,5S)-2-(hydroxymethyl)[1,3]oxathiolan-5-yl]cytosine
524W91
AC1L1U3I
AC1Q4KUB
BW 1592
 
BW 524W91
BW-524W91
BW524W91
C122114
C12599
C8H10FN3O3S
CHEBI:31536
CHEMBL885
CID60877
Coviracil
Coviracil(TM)
D01199
DB00879
DRG-0208
Emtricitabin
Emtricitabina
Emtricitabine
Emtricitabine (JAN/USAN/INN)
Emtricitabinum
Emtriva
Emtriva (TN)
Emtriva(TM)
FT-0080009
HMS2089I05
HSDB 7337
LS-135838
LS-173184
NCGC00164564-01
RCV
Racivir
SBB066061
TL8000958
UNII-G70B4ETF4S
ZINC03629271
beta-L-2',3'-dideoxy-5-fluoro-3'-thiacytidine
dOTFC
emtricitabine
2
LopinavirapprovedPhase 3342192725-17-092727
Synonyms:
(1S-(1R*(R*),3R*,4R*))-N-(4-(((2,6-Dimethylphenoxy)acetyl)amino)-3-hydroxy-5-phenyl-1-(phenylmethyl)pentyl)tetrahydro-alpha-(1-methylethyl)-2-oxo-1(2H)-pyrimidineacetamide
(2S)-N-[(2S,4S,5S)-5-[[2-(2,6-dimethylphenoxy)acetyl]amino]-4-hydroxy-1,6-diphenylhexan-2-yl]-3-methyl-2-(2-oxo-1,3-diazinan-1-yl)butanamide
(alphaS)-Tetrahydro-N-((alphaS)-alpha-((2S,3S)-2-hydroxy-4-phenyl-3-(2-(2,6-xylyloxy)acetamido)butyl)phenethyl)-alpha-isopropyl-2-oxo-1(2H)-pyrimidineacetamide
1(2H)-Pyrimidineacetamide, N-[(1S,3S,4S)-4-[[(2,6-dimethylphenoxy)acetyl]amino]-3-hydroxy-5-phenyl-1-(phenylmethyl)pentyl]tetrahydro-alpha-(1-methylethyl)-2-oxo-, (alphaS)- (9CI)
192725-17-0
1mui
2o4s
2q5k
2rkf
2rkg
A 157378
A 157378.0
A-157378-0
A-157378.0
AB1
ABT 157378
ABT 378
ABT-378
ABT-378, LOPINAVIR
AC1L3OPJ
AIDS032937
Aluviran
C12871
C37H48N4O5
 
CHEBI:40456
CHEMBL729
CID92727
D01425
DB01601
Kaletra
Koletra
LPV
LS-173766
Lopinavir
Lopinavir (JAN/USAN/INN)
Lopinavir [USAN:INN:BAN]
MolPort-003-848-410
N-(4-(((2,6-dimethylphenoxy)acetyl)amino)-3-hydroxy-5-phenyl-1-(phenylmethyl)pentyl)tetrahydro-alpha-(1-methylethyl)-2-oxo-1(2H)-pydrimidineacetamide
N-{1-BENZYL-4-[2-(2,6-DIMETHYL-PHENOXY)-ACETYLAMINO]-3-HYDROXY-5-PHENYL-PENTYL}-3-METHYL-2-(2-OXO-TETRAHYDRO-PYRIMIDIN-1-YL)-BUTYRAMIDE
NCGC00164576-01
NCGC00164576-02
RS-346
S1380_Selleck
SID124893167
SID144205757
SID50111692
UNII-2494G1JF75
a-157378-0
a-157378.0
3
Ritonavirapproved, investigationalPhase 3850155213-67-5392622
Synonyms:
1,3-thiazol-5-ylmethyl N-[(2S,3S,5S)-3-hydroxy-5-[[(2S)-3-methyl-2-[[methyl-[(2-propan-2-yl-1,3-thiazol-4-yl)methyl]carbamoyl]amino]butanoyl]amino]-1,6-diphenylhexan-2-yl]carbamate
155213-67-5
1hxw
1sh9
5-Thiazolylmethyl ((alphaS)-alpha-((1S,3S)-1-hydroxy-3-((2S)-2-(3-((2-isopropyl-4-thiazolyl)methyl)-3-methylureido)-3-methylbutyramido)-4-phenylbutyl)phenethyl)carbamate
5-Thiazolylmethyl ((alphaS)-alpha-((1S,3S-1-hydroxy-3-((2S)-2-(3-((2-isopropyl-4-thiazolyl)methyl)-3-methylureido)-3-methylbutyramido)-4-phenylbutyl)phenethyl)carbamate
538, ABT
A-84538
ABBOTT-84538
ABT 538
ABT 84538
ABT-538
ABT538
AC-733
AC1L94GB
AKOS000280930
Abbott 84538
BIDD:GT0387
BIDD:PXR0023
Bio-0093
C07240
C37H48N6O5S2
CHEBI:45409
CHEMBL163
CID392622
CPD000466395
D00427
D019438
 
DB00503
DRG-0244
FT-0082824
HMS2051B08
HSDB 7160
LS-148860
MLS000759541
MLS001424063
MolPort-000-883-877
N-[(2S,4S,5S)-4-hydroxy-1,6-diphenyl-5-{[(1,3-thiazol-5-ylmethoxy)carbonyl]amino}hexan-2-yl]-N~2~-(methyl{[2-(propan-2-yl)-1,3-thiazol-4-yl]methyl}carbamoyl)-L-valinamide
NCGC00159462-02
NSC693184
Norvir
Norvir (TM)
Norvir (TN)
Norvir Sec
RIT
RTV
Ritonavir
Ritonavir (JAN/USAN/INN)
Ritonavir [USAN]
Ritonavir is an inhibitor of HIV protease used to treat HIV infection and AIDS.
Ritonavirum
S1185_Selleck
SAM001246783
SMR000466395
STK634209
ZINC03944422
ritonavir
4
Tenofovirapproved, investigationalPhase 3666147127-20-6464205
Synonyms:
(R)-9-(2-Phosphonomethoxypropyl)adenine
(R)-9-(2-Phosphonylmethoxypropyl)adenine
(R)-PMPA
147127-20-6
206184-49-8
AC-760
AC1LA9BO
Anh. tenofovir
Anhydrous tenofovir
Apropovir
CHEBI:45809
CHEMBL483
CID464205
D,L-Tenofovir
DB00300
GNA & Tenofovir
GS 1275
GS 1278
GS1278
HHA & Tenofovir
 
KS-5021
MolPort-003-850-411
NCGC00167535-01
PMPA
PMPA-(R)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- & Galanthus nivalis agglutinin (GNA)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- & Hippeastrum hybrid agglutinin( HHA)
Phosphonic acid, [[(1R)-2-(6-amino-9H-purin-9-yl)-1-methylethoxy]methyl]- (9CI)
Phosphonic acid, [[2-(6-amino-9H-purin-9
S1401_Selleck
TDF
TFV
Tenefovir
Tenofovir
Tenofovir (anh.)
Tenofovir Disoproxil Fumarate
Tenofovir disoproxil
Tenofovir disoproxil fumarate
UNII-99YXE507IL
Viread
Viread, Tenofovir
[(2R)-1-(6-aminopurin-9-yl)propan-2-yl]oxymethylphosphonic acid
5
PrimaquineapprovedPhase 2, Phase 36490-34-64908
Synonyms:
()-Primaquine
(+)-N4-(6-Methoxy-8-quinolinyl)-1,4-pentanediamine
(+)-Primaquine
(+/-)-Primaquine
(-)-N4-(6-Methoxy-8-quinolinyl)-1,4-pentanediamine
(-)-Primaquine
1,4-Pentanediamine, N4-(6-methoxy-8-quinolinyl)- (9CI)
4-22-00-05817 (Beilstein Handbook Reference)
4-N-(6-methoxyquinolin-8-yl)pentane-1,4-diamine
6-Methoxy-8-(4-amino-1-methylbutylamino)quinoline
6-Methoxy-8-[(4-amino-1-methylbutyl)amino]quinoline
6-Methoxy-8-[4-amino-1-methylbutylamino]quinoline
63-45-6
63-45-6 (1:2 PO4)
8-((4-Amino-1-methylbutyl)amino)-6-methoxyquinoline
8-(4-Amino-1-m
8-(4-Amino-1-methylbutylamino)-6-methoxyquinoline
8-[(4-Amino-1-methylbutyl)amino]-6-methoxyquinoline
90-34-6
AB00053529
AC1L1J80
AC1Q4F0C
AC1Q4F4Q
BPBio1_000674
BRN 0019337
BSPBio_000612
BSPBio_002223
C07627
CCRIS 4109
CHEBI:8405
CHEMBL506
CID4908
D08420
DB01087
DivK1c_000806
EINECS 201-987-2
HMS2090J17
HSDB 6516
I08-0048
IDI1_000806
KBio1_000806
KBio2_001310
KBio2_003878
KBio2_006446
KBio3_001723
KBioGR_000967
KBioSS_001310
Kanaprim
Kanaprim (TN)
LS-141312
MolPort-001-794-628
N(4)-(6-methoxyquinolin-8-yl)pentane-1,4-diamine
 
N-(5-aminopentan-2-yl)-6-methoxyquinolin-8-amine
N4-(6-Methoxy-8-quinolinyl)-1,4-pentanediamine
NCGC00178754-01
NCGC00178754-02
NCI60_001035
NCI60_005887
NINDS_000806
NSC 27296
NSC27296
Neo-Quipenyl
Neo-quipenyl
N~4~-[6-(methyloxy)quinolin-8-yl]pentane-1,4-diamine
Oprea1_546209
PQ
PRIMAQUINE
Prestwick0_000476
Prestwick1_000476
Prestwick2_000476
Prestwick3_000476
Primachin
Primachina
Primachina [DCIT]
Primachinum
Primaquin
Primaquina
Primaquina [INN-Spanish]
Primaquine (INN)
Primaquine Bis-Phosphoric Acid
Primaquine Phosphate
Primaquine [INN:BAN]
Primaquinum
Primaquinum [INN-Latin]
Quinoline, 8-(4-amino-1-methylbutylamino)-6-methoxy
Quinoline, 8-[(4-amino-1-methylbutyl)amino]-6-methoxy- (6CI,8CI)
S. N. 13272
SMP1_000263
SN 13,272
SN 13272
SPBio_000674
SPBio_002551
STOCK5S-90838
Spectrum2_000887
Spectrum3_000552
Spectrum4_000484
Spectrum5_001363
Spectrum_000830
TG1-296
TG1-297
UNII-MVR3634GX1
WLN: T66 BNJ HO1 JMY1&3Z
WR 2975
dl-Primaquine
ethylbutylamino)-6-methoxyquinoline
6Nucleic Acid Synthesis InhibitorsPhase 33836
7Protease InhibitorsPhase 34558
8Reverse Transcriptase InhibitorsPhase 31656
9Anti-Infective AgentsPhase 3, Phase 217220
10Raltegravir PotassiumPhase 3288
11Antiviral AgentsPhase 38071
12Anti-Retroviral AgentsPhase 32794
13Integrase InhibitorsPhase 3370
14Cytochrome P-450 Enzyme InhibitorsPhase 33036
15Cytochrome P-450 CYP3A InhibitorsPhase 31421
16HIV Protease InhibitorsPhase 34558
17HIV Integrase InhibitorsPhase 3343
18Emtricitabine, Tenofovir Disoproxil Fumarate Drug CombinationPhase 3130
19
DihydroartemisininPhase 2, Phase 38171939-50-96918483
Synonyms:
(3R,5aS,6R,8aS,9R,12R,12aR)-3,6,9-trimethyldecahydro-3,12-epoxypyrano[4,3-j][1,2]benzodioxepin-10-ol
1,5,9-trimethyl-(1R,4S,5R,8S,9R,10S,12R,13R)-11,14,15,16-tetraoxatetracyclo[10.3.1.04,13.08,13]hexadecan-10-ol(Dihydroartemisinin)
71939-50-9
81496-81-3
AC-2067
AC1L32PY
AC1L9UV6
Ambotz71939-50-9
Artenimol
Artenimol (INN)
CHEBI:207229
CHEMBL25164
CID107770
 
CID456410
CID6918483
Cotecxin
D07362
D3793
Dihydroartemisinin
Dihydroartemisinine
Dihydroqinghaosu
Dihydroquinghaosu
Dihydroquinghoasu
GNF-PF-5634
JAV-110
LS-64240
VM3352
[3R-(3.alpha.,5a.beta.,6.beta.,8a.beta.,9.alpha.,10.alpha.,12.beta.,12aR*)]-Decahydro-10-hydroxy-3,6,9-trimethyl-3,12-epoxy-12H-pyrano[4.3-j]-1,2-benzodioxepin
20
PiperaquinePhase 2, Phase 3954085-31-85079497
Synonyms:
1,3-bis(1-(7-chloro-4'-quinolyl)-4'-piperazinyl)propane
1,3-bis(4-(7'-chloro-4'-quinoline)-1-piperazine)
4,4'-(propane-1,3-diyldipiperazine-4,1-diyl)bis(7-chloroquinoline)
4085-31-8
5-23-03-00072 (Beilstein Handbook Reference)
7-chloro-4-[4-[3-[4-(7-chloroquinolin-4-yl)piperazin-1-yl]propyl]piperazin-1-yl]quinoline
83764-65-2
AC1L3UA1
AC1Q3T7B
AR-1F7471
 
BRN 0905079
C29H32Cl2N6
CHEMBL303933
CID122262
FT-0082661
I06-1673
LS-142194
Piperaquinoline
Quinoline, 4,4'-(1,3-propanediyldi-4,1-piperazinediyl)bis(7-chloro- (9CI)
Quinoline, 4,4'-(1,3-propanediyldi-4,1-piperazinediyl)bis(7-chloro-)
ST51053186
piperaquine
21ArtemisininsPhase 2, Phase 3202
22Antiparasitic AgentsPhase 2, Phase 31854
23ArtemisininePhase 2, Phase 3202
24AntimalarialsPhase 2, Phase 31058
25Antiprotozoal AgentsPhase 2, Phase 31730
26pyruvateNutraceuticalPhase 330
27Pharmaceutical Solutions7004

Interventional clinical trials:

idNameStatusNCT IDPhase
1Study Comparing Lopinavir/Ritonavir (LPV/r) + Emtricitabine/Tenofovir Disoproxil Fumarate (FTC/TDF) With a Nucleoside Sparing Regimen Consisting of Lopinavir/Ritonavir + Raltegravir (RAL)CompletedNCT00711009Phase 3
2Evaluation of the Safety of Primaquine in Combination With Dihydroartemisinin-piperaquine in G6PD Deficient Males in The GambiaRecruitingNCT02654730Phase 2, Phase 3
3Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency:Not yet recruitingNCT02616484Phase 3
4Evaluation of Lactate Dehydrogenase as Decision Support for Admissions to Neonatal WardCompletedNCT02379936
5Fat and Sugar Metabolism During Exercise in Patients With Metabolic MyopathyRecruitingNCT02635269

Search NIH Clinical Center for Lactate Dehydrogenase Deficiency

Genetic Tests for Lactate Dehydrogenase Deficiency

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Anatomical Context for Lactate Dehydrogenase Deficiency

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MalaCards organs/tissues related to Lactate Dehydrogenase Deficiency:

33
Bone, Bone marrow, Liver

Animal Models for Lactate Dehydrogenase Deficiency or affiliated genes

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Publications for Lactate Dehydrogenase Deficiency

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Articles related to Lactate Dehydrogenase Deficiency:

idTitleAuthorsYear
1
Loss of the mismatched human leukocyte antigen haplotype in two acute Myelogenous leukemia relapses after haploidentical bone marrow transplantation with posttransplantation cyclophosphamide. (27211264)
2016
2
Perioperative Stress Cardiomyopathy: Case Reports Matter! (26726768)
2016
3
Association of matrix metalloproteinase (MMP)-2 and -9 expression with extra-gastrointestinal stromal tumor metastasis. (24935368)
2014
4
Inherited variation in the PARP1 gene and survival from melanoma. (24535833)
2014
5
A variant or a "new" postaxial acrofacial dysostosis syndrome. (18286304)
2008
6
Principal expression of two mRNA isoforms (ABCB 5alpha and ABCB 5beta) of the ATP-binding cassette transporter gene ABCB 5 in melanoma cells and melanocytes. (15760339)
2005
7
Detection of MAGE-4 protein in the sera of patients with hepatitis-C virus-associated hepatocellular carcinoma and liver cirrhosis. (9369941)
1997

Variations for Lactate Dehydrogenase Deficiency

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Expression for genes affiliated with Lactate Dehydrogenase Deficiency

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Search GEO for disease gene expression data for Lactate Dehydrogenase Deficiency.

Pathways for genes affiliated with Lactate Dehydrogenase Deficiency

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GO Terms for genes affiliated with Lactate Dehydrogenase Deficiency

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Sources for Lactate Dehydrogenase Deficiency

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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