MCID: FML156
MIFTS: 31

Familial Hyperaldosteronism malady

Categories: Genetic diseases, Rare diseases, Endocrine diseases, Cancer diseases

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:



External Ids:

UMLS65 C3713420

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 hyperaldosteronism, familial, type iii and aldosteronism, glucocorticoid-remediable. An important gene associated with Familial Hyperaldosteronism is KCNJ5 (Potassium Voltage-Gated Channel Subfamily J Member 5), and among its related pathways are Metabolism of steroid hormones and Steroid hormone biosynthesis. Affiliated tissues include heart, adrenal gland and kidney.

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 55)
idRelated DiseaseScoreTop Affiliating Genes
1hyperaldosteronism, familial, type iii12.2
2aldosteronism, glucocorticoid-remediable12.1
3hypercholesterolemia, familial12.1
4hyperaldosteronism, familial, type ii11.7
5hypoaldosteronism, congenital, due to cmo ii deficiency10.1CYP11B1, CYP11B2
6pericarditis10.1CYP11B1, CYP11B2
7adrenal cortical adenocarcinoma10.1CYP11B1, CYP11B2
8sleep apnea10.1
9obstructive sleep apnea10.1
10peripheral nerve schwannoma10.1CYP11B1, CYP11B2
11ethmoid sinus inverted papilloma10.0CYP11B1, CYP11B2
12orofaciodigital syndrome10.0CYP11B2, KCNJ5
13acute myocarditis10.0CYP11B1, CYP11B2
14organ system benign neoplasm10.0CYP11B2, KCNJ5
15chondrosarcoma9.9
16osteogenesis imperfecta, type i9.9
17behcet's disease9.9
18systemic scleroderma9.9
19hypophosphatemia9.9
20hyperphosphatemia9.9
21primary progressive multiple sclerosis9.9
22atrial fibrillation9.9
23fibrous dysplasia9.9
24osteomyelitis9.9
25ehrlichiosis9.9
26osteogenesis imperfecta9.9
27root resorption9.9
28candidiasis9.9
29melanoma9.9
30vulvovaginal candidiasis9.9
31vulvovaginitis9.9
32gingival overgrowth9.9
33gingivitis9.9
34choriocarcinoma9.9
35pancreatitis9.9
36corneal ulcer9.9
37pityriasis rosea9.9
38meningitis9.9
39stomatitis9.9
40babesiosis9.9
41aphthous stomatitis9.9
42yellow fever9.9
43periarteritis nodosa9.9
44endotheliitis9.9
45meningococcal meningitis9.9
46serotonin syndrome9.9
47sympathetic ophthalmia9.9CYP11B1, CYP11B2, KCNJ5
48central nervous system organ benign neoplasm9.9CYP11B1, CYP11B2, KCNJ5
49male reproductive organ benign neoplasm9.9CYP11B1, CYP11B2, KCNJ5
50multilocular clear cell renal cell carcinoma9.9CYP11B1, CYP11B2, KCNJ5

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):

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Dopamineapproved308462-31-7, 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
Epinephrineapproved83451-43-45816
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
3Hormone Antagonists10002
4Mineralocorticoids301
5Hormones11748
6Hormones, Hormone Substitutes, and Hormone Antagonists9988
7Racepinephrine834
8Dopamine Agents3084
9Epinephryl borate834
10Immunoglobulins4477
11Antibodies4477
12Antihypertensive Agents3618

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
4Radiofrequency Ablation for Aldosterone-producting Adenoma in Patients With Primary AldosteronismNot yet recruitingNCT02756754
5Evaluation of Safety Mechanisms of Renal Radioablation(RSRA)for Uncontrolled HypertensionTerminatedNCT01966952
6Body Volume Regulation in Pulmonary Arterial Hypertension With Right Ventricular FailureWithdrawnNCT00811486

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, Breast, Brain, Colon, Endothelial

Animal Models for Familial Hyperaldosteronism or affiliated genes

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Publications for Familial Hyperaldosteronism

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Articles related to Familial Hyperaldosteronism:

(show all 44)
idTitleAuthorsYear
1
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. (26924530)
2016
2
Childhood asthma is associated with polymorphic markers of PROC on 2q14 in addition to 17q21 locus. (25643747)
2015
3
Impact of vascular endothelial growth factor single nucleotide polymorphism association on acute renal allograft rejection. (25659610)
2015
4
Country characteristics and acute diarrhea in children from developing nations: a multilevel study. (26293136)
2015
5
Prognostic value of MGMT promoter methylation and TP53 mutation in glioblastomas depends on IDH1 mutation. (25605197)
2014
6
Oral hairy leukoplakia diagnosis by Epstein-Barr virus inA situ hybridization in liquid-based cytology. (23445399)
2014
7
Hereditary breast/ovarian cancer syndrome: a primer for obstetricians/gynecologists. (24021253)
2013
8
Cardiovascular involvement in patients affected by acromegaly: an appraisal. (23219077)
2013
9
Survey of practice preference pattern in antibiotic prophylaxis against endophthalmitis after cataract surgery in Singapore. (22361893)
2012
10
Training, leptin receptors and SOCS3 in human muscle. (21547863)
2011
11
Conventional Epi-LASIK and lamellar epithelial debridement in myopic patients with dermatologic keloids. (21655048)
2011
12
Hyperprolactinemia and breast enlargement with serotonin reuptake inhibitor and olanzapine combination. (22144791)
2011
13
Cutaneous lupus erythematosus: recent lessons from animal models. (20693196)
2010
14
Fatal paraneoplastic pemphigus associated with a mediastinal tumor. (19087213)
2009
15
Dramatic and durable efficacy of imatinib in an advanced angiosarcoma without detectable KIT and PDGFRA mutations. (19182535)
2009
16
Aldosterone and cardiovascular disease. (19135616)
2009
17
Chronic early postnatal administration of ethylmalonic acid to rats causes behavioral deficit. (18950661)
2009
18
Effect of heparin on the activated partial thromboplastin time in parturients receiving combined spinal and epidural anesthesia for caesarean section]. (18709999)
2008
19
Role of S128R polymorphism of E-selectin in colon metastasis formation. (17372905)
2007
20
Long-term graft-versus-WaldenstrAPm macroglobulinemia effect following reduced intensity conditioning allogeneic stem cell transplantation. (17502896)
2007
21
Complex visual hallucination and mirror sign in posterior cortical atrophy. (16774663)
2006
22
Direct thrombin inhibitors in coronary angioplasty. Value of bivalirudin ]. (16553238)
2006
23
Cerebrospinal fluid superoxide dismutase and serum malondialdehyde levels in patients with aneurysmal subarachnoid hemorrhage: preliminary results. (15978186)
2005
24
Release of cytochrome c from isolated mitochondria by etoposide. (16202244)
2005
25
Assessment of Her-1, Her-2, And Her-3 expression and Her-2 amplification in advanced stage ovarian carcinoma. (15782071)
2005
26
p15INK4b, p14ARF, and p16INK4a inactivation in sporadic and neurofibromatosis type 1-related malignant peripheral nerve sheath tumors. (14519636)
2003
27
NEPH1 defines a novel family of podocin interacting proteins. (12424224)
2003
28
Fasting and post-glucose ghrelin levels in SGA infants: relationships with size and weight gain at one year of age. (12466394)
2002
29
Long-term follow-up of aneurysms developed during extracranial internal carotid artery dissection. (10851398)
2000
30
In vitro susceptibility of chromoblastomycosis and phaeohyphomycosis agents to antifungal drugs. (10647121)
1999
31
Hydromyelia in the dog. (9238767)
1997
32
Pediatric ibuprofen and leukopenia. (8596253)
1996
33
Distribution of epidermal growth factor receptor gene amplification in brain tumours and correlation to prognosis. (8568531)
1995
34
Changes in the heme metabolic pathway in diabetic patients]. (7565048)
1995
35
Modulation of gene expression in the preimplantation mouse embryo by TGF-alpha and TGF-beta. (7654366)
1995
36
Ano-cutaneous fistula associated with Bardet-Biedl syndrome in an African child. (7925068)
1994
37
Preserved bone mass in ovariectomized rats treated with parathyroid-hormone-related peptide (1-34) and (107-111) fragments. (7802939)
1994
38
A receptor for interleukin 10 is related to interferon receptors. (8248239)
1993
39
Basal ganglia infarction as a possible cause of cervical dystonia. (8474493)
1993
40
Mitogenic and receptor activities of human growth hormone 108-129. (8226761)
1993
41
Inhibition of insulin-degrading enzyme increases translocation of insulin to the nucleus in H35 rat hepatoma cells: evidence of a cytosolic pathway. (8504733)
1993
42
Detection of the 125-kDa nuclear protein mitotin in centrosomes, the poles of the mitotic spindle, and the midbody. (1544381)
1992
43
Mechanism for delivery of sperm to fimbria in oligospermia. (7201413)
1982
44
Erysipelas in Infants. (21433819)
1939

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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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 7)
idNameGO IDScoreTop Affiliating Genes
1secondary metabolite biosynthetic processGO:00445509.8CYP11B1, CYP11B2
2aldosterone biosynthetic processGO:00323429.8CYP11B1, CYP11B2
3cholesterol metabolic processGO:00082039.8CYP11B1, CYP11B2
4cortisol biosynthetic processGO:00346519.7CYP11B1, CYP11B2
5cellular response to potassium ionGO:00358659.6CYP11B1, CYP11B2
6sterol metabolic processGO:00161259.6CYP11B1, CYP11B2
7cellular response to hormone stimulusGO:00328709.5CYP11B1, CYP11B2

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

idNameGO IDScoreTop Affiliating Genes
1steroid 11-beta-monooxygenase activityGO:00045079.6CYP11B1, 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