MCID: FML156
MIFTS: 33

Familial Hyperaldosteronism malady

Genetic diseases, Rare diseases, Endocrine diseases, Cancer diseases categories

Aliases & Classifications for Familial Hyperaldosteronism

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Aliases & Descriptions for Familial Hyperaldosteronism:

Name: Familial Hyperaldosteronism 23 65
Familial Primary Aldosteronism 23
Hyperaldosteronism, Familial 23
 
Hereditary Aldosteronism 23
Fh 23


Classifications:



Summaries for Familial Hyperaldosteronism

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Genetics Home Reference:23 Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are small glands located on top of each kidney, produce too much of the hormone aldosterone. Aldosterone helps control the amount of salt retained by the kidneys. Excess aldosterone causes the kidneys to retain more salt than normal, which in turn increases the body's fluid levels and blood pressure. People with familial hyperaldosteronism may develop severe high blood pressure (hypertension), often early in life. Without treatment, hypertension increases the risk of strokes, heart attacks, and kidney failure.

MalaCards based summary: Familial Hyperaldosteronism, also known as familial primary aldosteronism, is related to aldosteronism, glucocorticoid-remediable and hyperaldosteronism. An important gene associated with Familial Hyperaldosteronism is KCNJ5 (Potassium Channel, Inwardly Rectifying Subfamily J, Member 5), and among its related pathways are superpathway of steroid hormone biosynthesis and Steroid hormone biosynthesis. Affiliated tissues include heart, adrenal gland and kidney, and related mouse phenotype cardiovascular system.

Wikipedia:68 Familial hyperaldosteronism is a group of inherited conditions in which the adrenal glands, which are... more...

Related Diseases for Familial Hyperaldosteronism

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Diseases in the Hyperaldosteronism family:

Hyperaldosteronism, Familial, Type Ii Hyperaldosteronism, Familial, Type Iii
familial hyperaldosteronism

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

(show top 50)    (show all 79)
idRelated DiseaseScoreTop Affiliating Genes
1aldosteronism, glucocorticoid-remediable31.0CYP11B1, CYP11B2
2hyperaldosteronism10.9
3leiomyomatosis and renal cell cancer10.7
4hypercholesterolemia, familial10.7
5homozygous familial hypercholesterolemia10.7
6fumarase deficiency10.6
7fumarate hydratase deficiency10.5
8hyperaldosteronism, familial, type iii10.5
9hyperaldosteronism, familial, type ii10.4
10leiomyomatosis10.4
11hyperlipidemia type 310.4
12familial hyperlipidemia10.3
13lipid metabolism disorder10.3
14floating-harbor syndrome10.3
15peripheral vascular disease10.3
16atherosclerosis10.3
17arteriosclerosis10.3
18leiomyoma10.3
19pheochromocytoma10.2
20hypercholesterolemia, familial, 310.2
21breast cancer10.2
22coronary artery disease10.2
23renal cell carcinoma10.2
24ischemic heart disease10.2
25toxic megacolon10.1CYP11B1, CYP11B2
26prostate cancer10.1
27metabolic syndrome x10.1
28paraganglioma10.1
29artery disease10.1
30congenital heart disease10.1
31prostatitis10.1
32vascular disease10.1
33adrenal cortical hypofunction10.1CYP11B1, CYP11B2
34adrenal gland hyperfunction10.1CYP11B1, CYP11B2
35retinoblastoma10.1
36endotheliitis10.1
37adrenal cortex disease10.1CYP11B1, CYP11B2
38adult astrocytic tumour10.1CYP11B1, CYP11B2
39adenoma10.0
40hyperlipidemia, familial combined10.0
41stroke, ischemic10.0
42coronary heart disease 210.0
43coronary heart disease 410.0
44coronary heart disease 310.0
45hyperchylomicronemia, late-onset10.0
46pulmonary hypertension10.0
47charcot-marie-tooth disease10.0
48follicular lymphoma10.0
49klinefelter's syndrome10.0
50smooth muscle tumor10.0

Graphical network of the top 20 diseases related to Familial Hyperaldosteronism:



Diseases related to familial hyperaldosteronism

Symptoms for Familial Hyperaldosteronism

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Drugs & Therapeutics for Familial Hyperaldosteronism

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Dopamineapproved281462-31-7, 51-61-6681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine Hcl
Dopamine Hydrochloride
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
 
KBio1_000780
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
2
Epinephrineapproved76851-43-45816
Synonyms:
(-)-(R)-Epinephrine
(-)-3,4-Dihydroxy-a-[2-(methylamino)ethyl]benzyl alcohol
(-)-3,4-Dihydroxy-alpha-((methylamino)methyl)benzyl alcohol
(-)-3,4-Dihydroxy-alpha-[2-(methylamino)ethyl]benzyl alcohol
(-)-3,4-dihydroxy-a-[(methylamino)methyl]-Benzyl alcohol
(-)-3,4-dihydroxy-alpha-[(methylamino)methyl]-Benzyl alcohol
(-)-Adrenalin
(-)-Adrenaline
(-)-Epinephrine
(-)-R-Epinephrine
(R)-(-)-Adnephrine
(R)-(-)-Adrenaline
(R)-(-)-Epinephrine
(R)-(-)-Epirenamine
(R)-(−)-adrenaline
(R)-4-[1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol
(R)-4-[1-hydroxy-2-(methylamino)ethyl]-1,2-Benzenediol
(R)-Adrenaline
(R)-Epinephrine
(−)-adrenaline
02252_FLUKA
1-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
1-Adrenalin
1-Epinephrine
4-(1-Hydroxy-2-(methylamino)ethyl)-1,2-benzenediol
4-(1-hydroxy-2-methylamino-ethyl)benzene-1,2-diol
4-[(1R)-1-Hydroxy-2-(methylamino)ethyl]-1,2-Benzenediol
4-[(1R)-1-Hydroxy-2-(methylamino)ethyl]-1,2-benzenediol
4-[(1R)-1-hydroxy-2-(methylamino)ethyl]benzene-1,2-diol
51-43-4
51-43-4 (FREE BASE)
51028-73-0
A0173
AC-13188
AC1L1L7B
ADR ADRENALINE
ADROP
AI3-19015
Adnephrine
Adrenaclick
Adrenal
Adrenalin
Adrenalin (TN)
Adrenalin in Oil
Adrenalin-Medihaler
Adrenalina
Adrenalina [DCIT]
Adrenaline
Adrenaline (JP15)
Adrenaline/Epinephrine
Adrenalinum
Adrenamine
Adrenan
Adrenapax
Adrenasol
Adrenatrate
Adrenine
Adrenodis
Adrenohorma
Adrenosan
Adrenutol
Adrin
Adrine
Ana-Guard
Ana-Kit
Antiasthmatique
Asmatane Mist
Asthma meter mist
Asthma-nefrin
Asthmahaler Mist
Asthmanefrin
Astmahalin
Astminhal
Auvi-q
BIDD:GT0119
Balmadren
Bernarenin
Biorenine
Bosmin
Brevirenin
Bronkaid
Bronkaid Mist
Bronkaid Suspension Mist
Bupivacaine Hcl and Epinephrine
C00788
CCRIS 4812
CHEBI:28918
CHEMBL679
CID5816
Chelafrin
Citanest Forte
Corisol
D-Epifrin
D-Epinephrine
D00095
DB00668
Drenamist
Dylephrin
Dyspne-Inhal
E4250_SIGMA
EINECS 200-098-7
EPI E Z PEN JR
EPIPEN E Z PEN
EPIPEN JR
Epi EZ Pen Jr
Epifrin
Epiglaufrin
Epinefrin
Epinefrin [Czech]
Epinefrina
Epinefrina [INN-Spanish]
Epinephran
Epinephrin
Epinephrine
Epinephrine (USP)
Epinephrine (USP/INN)
Epinephrine [USAN:INN:JAN]
Epinephrine bitartrate
Epinephrine chloride
Epinephrine hydrochloride
Epinephrinum
Epinephrinum [INN-Latin]
Epipen
Epipen (TN)
Epipen Auto-Injector
Epipen EZ Pen
Epipen Jr
Epipen Jr.
Epipen Jr. Auto-Injector
Epipen jr
Epirenamine
Epirenan
Epirenin
Epitrate
Eppy
 
Esphygmogenina
Exadrin
Glaucon
Glaucosan
Glauposine
Glycirenan
HSCI1_000215
HSDB 4289
Haemostasin
Haemostatin
Hektalin
Hemisine
Hemostasin
Hemostatin
Hypernephrin
Hyporenin
IOP
Intranefrin
Iontocaine
Isoptoepinal
Kidoline
L-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
L-Adrenaline
L-Adrenaline Base
L-Epinehphrine
L-Epinephrine
L-Epirenamine
L-Methylaminoethanolcatechol
L-epinephrine
LS-156
Levo-Methylaminoethanolcatechol
Levoadrenaline
Levoepinephrine
Levorenen
Levorenin
Levorenine
Levoreninum
Lopac-E-4642
Lyodrin
Lyophrin
Medihaler-Epi
Metanephrin
Methylaminoethanolcatechol
Methylarterenol
Micronefrin
Micronephrine
MolPort-002-051-368
Mucidrina
Myosthenine
Mytrate
NCGC00015417-01
NCGC00142615-01
NCGC00142615-03
NCGC00142615-04
NCGC00142615-05
NCGC00142615-06
NCGC00142615-07
NSC 62786
NSC62786
Nephridine
Nieraline
PDSP1_001120
PDSP2_001104
Paranephrin
Primatene
Primatene Mist
Primatene Mist Refill
Prime Asthma Relief
R-(-)-Epinephrine
R-Adrenaline
RCRA waste no. P042
Racemic Epinephrine
Racepinephrine
Rcra waste number P042
Renagladin
Renaglandin
Renaglandulin
Renaleptine
Renalina
Renoform
Renostypricin
Renostypticin
Renostyptin
SMP1_000227
ST069368
SUS-PHRINE SULFITE-FREE
Scurenaline
Septocaine
Simplene
Sindrenina
Soladren
Sphygmogenin
Stryptirenal
Styptirenal
Supracapsulin
Supradin
Supranefran
Supranephrane
Supranephrine
Supranol
Suprarenaline
Suprarenin
Suprel
Surenine
Surrenine
Sus-Phrine
Sus-phrine
Susphrine
Sympathin I
Takamina
Takamine
Tokamina
Tonogen
Twinject
Twinject 0.15
Twinject 0.3
Twinject 0.30
UNII-YKH834O4BH
Vaponefrin
Vasoconstrictine
Vasoconstrictor
Vasodrine
Vasoton
Vasotonin
adrenaline
bmse000316
d-Adrenaline
epinephrine
l-1-(3,4-Dihydroxyphenyl)-2-methylaminoethanol
l-Adrenalin
l-Adrenaline
l-Epinephine
l-Epinephrine (synthetic)
l-Epirenamine
l-Methylaminoethanolcatechol
levoepinephrine
nchembio747-comp9
3Mineralocorticoids294
4Racepinephrine768
5Epinephryl borate768

Interventional clinical trials:

idNameStatusNCT IDPhase
1Cardiovascular Evaluation of Adult PHA 1 PatientsCompletedNCT00646828
2D2 Dopamine Receptor on Human Aldosterone-Producing Adenoma and Its Role in Aldosterone Secretion and Cell ProliferationRecruitingNCT00173446
3Genetic and Morphological Analysis of Thyrotoxic Periodic ParalysisActive, not recruitingNCT02287363
4Evaluation of Safety Mechanisms of Renal Radioablation(RSRA)for Uncontrolled HypertensionTerminatedNCT01966952

Search NIH Clinical Center for Familial Hyperaldosteronism

Genetic Tests for Familial Hyperaldosteronism

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Anatomical Context for Familial Hyperaldosteronism

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MalaCards organs/tissues related to Familial Hyperaldosteronism:

33
Heart, Adrenal gland, Kidney, Endothelial, Testes

Animal Models for Familial Hyperaldosteronism or affiliated genes

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MGI Mouse Phenotypes related to Familial Hyperaldosteronism:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.6AGTR1, CYP11B1, CYP11B2, GNA12, KCNJ5, MEN1

Publications for Familial Hyperaldosteronism

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Articles related to Familial Hyperaldosteronism:

(show all 44)
idTitleAuthorsYear
1
An Update on Familial Hyperaldosteronism. (26445452)
2015
2
Pregnancy normalized familial hyperaldosteronism type I: a novel role for progesterone? (24943290)
2014
3
Discordant genotype-phenotype correlation in familial hyperaldosteronism type III with KCNJ5 gene mutation: a patient report and review of the literature. (24819081)
2014
4
a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III. (24037882)
2013
5
The prevalence of familial hyperaldosteronism in apparently sporadic primary aldosteronism in Germany: a single center experience. (22274719)
2012
6
KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism. (22203740)
2012
7
Polyuric-polydipsic syndrome in a pediatric case of non-glucocorticoid remediable familial hyperaldosteronism. (22447138)
2012
8
Further study of chromosome 7p22 to identify the molecular basis of familial hyperaldosteronism type II. (20927129)
2011
9
A de novo unequal cross-over mutation between CYP11B1 and CYP11B2 genes causes familial hyperaldosteronism type I. (20634641)
2011
10
Is familial hyperaldosteronism underdiagnosed in hypertensive children? (21502569)
2011
11
Frequency of familial hyperaldosteronism type 1 in a hypertensive pediatric population: clinical and biochemical presentation. (21502562)
2011
12
Prevalence and characteristics of familial hyperaldosteronism: the PATOGEN study (Primary Aldosteronism in TOrino-GENetic forms). (21876069)
2011
13
Familial hyperaldosteronism I-III. (20131203)
2010
14
A mother/daughter case of familial hyperaldosteronism. (20865750)
2010
15
Elevated serum interleukin 6 levels in normotensive individuals with familial hyperaldosteronism type 1. (19221206)
2009
16
Familial hyperaldosteronism type 1 in pregnancy. (19356193)
2009
17
Further evidence for linkage of familial hyperaldosteronism type II at chromosome 7p22 in Italian as well as Australian and South American families. (18622235)
2008
18
Examination of chromosome 7p22 candidate genes RBaK, PMS2 and GNA12 in familial hyperaldosteronism type II. (18307725)
2008
19
A new form of hereditary primary aldosteronism: familial hyperaldosteronism type III. (18685118)
2008
20
Subclinical endothelial inflammation markers in a family with type I familial hyperaldosteronism caused by a de novo mutation]. (19030657)
2008
21
No evidence for coding region mutations in the retinoblastoma-associated Kruppel-associated box protein gene (RBaK) causing familial hyperaldosteronism type II. (17121540)
2006
22
Familial hyperaldosteronism type II is linked to the chromosome 7p22 region but also shows predicted heterogeneity. (16003173)
2005
23
Evidence for abnormal left ventricular structure and function in normotensive individuals with familial hyperaldosteronism type I. (15941863)
2005
24
Retention of heterozygosity at chromosome 7p22 and 11q13 in aldosterone-producing tumours of patients with familial hyperaldosteronism not remediable by glucocorticoids. (15175634)
2004
25
Genomic structure of the human gene for protein kinase A regulatory subunit R1-beta (PRKAR1B) on 7p22: no evidence for mutations in familial hyperaldosteronism type II in a large affected kindred. (15579186)
2004
26
Familial hyperaldosteronism]. (15351948)
2004
27
New genetic insights in familial hyperaldosteronism. (12381543)
2002
28
Familial hyperaldosteronism. (11595502)
2001
29
A chimeric CYP11B1/CYP11B2 gene in glucocorticoid-insuppressible familial hyperaldosteronism. (11453962)
2001
30
Treatment of familial hyperaldosteronism type I: only partial suppression of adrenocorticotropin required to correct hypertension. (10999827)
2000
31
Severity of hypertension in familial hyperaldosteronism type I: relationship to gender and degree of biochemical disturbance. (10852446)
2000
32
A novel genetic locus for low renin hypertension: familial hyperaldosteronism type II maps to chromosome 7 (7p22). (11073536)
2000
33
Familial hyperaldosteronism. (11004715)
2000
34
Biochemical evidence of aldosterone overproduction and abnormal regulation in normotensive individuals with familial hyperaldosteronism type I. (10566645)
1999
35
Linkage analysis of familial hyperaldosteronism type II--absence of linkage to the gene encoding the angiotensin II receptor type 1. (9506777)
1998
36
Familial hyperaldosteronism type II: description of a large kindred and exclusion of the aldosterone synthase (CYP11B2) gene. (9745430)
1998
37
Evidence for persistent dysfunction of wild-type aldosterone synthase gene in glucocorticoid-treated familial hyperaldosteronism type I. (9488230)
1997
38
In familial hyperaldosteronism type I, hybrid gene-induced aldosterone production dominates that induced by wild-type genes. (9360524)
1997
39
A PCR-based method of screening individuals of all ages, from neonates to the elderly, for familial hyperaldosteronism type I. (9483237)
1997
40
A new genetic test for familial hyperaldosteronism type I aids in the detection of curable hypertension. (7864844)
1995
41
Hybrid gene or hybrid steroids in the detection and screening for familial hyperaldosteronism type I. (8582097)
1995
42
Clinical, biochemical and genetic approaches to the detection of familial hyperaldosteronism type I. (8903619)
1995
43
Familial hyperaldosteronism type II: five families with a new variety of primary aldosteronism. (1521363)
1992
44
Familial hyperaldosteronism, not suppressed by dexamethasone. (7119083)
1982

Variations for Familial Hyperaldosteronism

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Expression for genes affiliated with Familial Hyperaldosteronism

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Search GEO for disease gene expression data for Familial Hyperaldosteronism.

Pathways for genes affiliated with Familial Hyperaldosteronism

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Pathways related to Familial Hyperaldosteronism according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8CYP11B1, CYP11B2
2
Show member pathways
9.8CYP11B1, CYP11B2
3
Show member pathways
8.9AGTR1, GNA12, KCNJ5

GO Terms for genes affiliated with Familial Hyperaldosteronism

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Biological processes related to Familial Hyperaldosteronism according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1C21-steroid hormone biosynthetic processGO:000670010.1CYP11B1, CYP11B2
2aldosterone biosynthetic processGO:003234210.1CYP11B1, CYP11B2
3cellular response to hormone stimulusGO:003287010.1CYP11B1, CYP11B2
4cortisol biosynthetic processGO:003465110.1CYP11B1, CYP11B2
5cellular response to potassium ionGO:003586510.1CYP11B1, CYP11B2
6secondary metabolite biosynthetic processGO:004455010.1CYP11B1, CYP11B2
7steroid metabolic processGO:00082029.8CYP11B1, CYP11B2
8cholesterol metabolic processGO:00082039.7CYP11B1, CYP11B2
9Rho protein signal transductionGO:00072669.6AGTR1, GNA12
10cellular response to peptide hormone stimulusGO:00713759.5CYP11B1, CYP11B2, MEN1
11sterol metabolic processGO:00161259.5CYP11B1, CYP11B2

Molecular functions related to Familial Hyperaldosteronism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1steroid 11-beta-monooxygenase activityGO:000450710.1CYP11B1, CYP11B2
2corticosterone 18-monooxygenase activityGO:004778310.1CYP11B1, CYP11B2
3oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygenGO:001670910.0CYP11B1, CYP11B2
4oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygenGO:00167059.8CYP11B1, CYP11B2

Sources for Familial Hyperaldosteronism

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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