MCID: HYP548
MIFTS: 29

Hypogonadotropic Hypogonadism 2 with or Without Anosmia malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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Aliases & Descriptions for Hypogonadotropic Hypogonadism 2 with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism 2 with or Without Anosmia 49 11 67
Kallmann Syndrome 2 45 67 24 65
 
Kal2 45 67
Hh2 67

Characteristics:

HPO:

61
hypogonadotropic hypogonadism 2 with or without anosmia:
Inheritance: heterogeneous, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 147950
MeSH36 D017436
UMLS65 C1563720

Summaries for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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OMIM:49 Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual... (147950) more...

MalaCards based summary: Hypogonadotropic Hypogonadism 2 with or Without Anosmia, also known as kallmann syndrome 2, is related to fgfr1-related isolated gonadotropin-releasing hormone deficiency and glomerulonephritis, and has symptoms including ectrodactyly, clinodactyly and agenesis of corpus callosum. An important gene associated with Hypogonadotropic Hypogonadism 2 with or Without Anosmia is FGFR1 (Fibroblast Growth Factor Receptor 1). Affiliated tissues include pituitary and olfactory bulb.

UniProtKB/Swiss-Prot:67 Hypogonadotropic hypogonadism 2 with or without anosmia: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).

Related Diseases for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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Diseases related to Hypogonadotropic Hypogonadism 2 with or Without Anosmia via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1fgfr1-related isolated gonadotropin-releasing hormone deficiency11.6
2glomerulonephritis10.3
3giardiasis10.3
4duodenitis10.3
5paraquat poisoning10.3

Graphical network of diseases related to Hypogonadotropic Hypogonadism 2 with or Without Anosmia:



Diseases related to hypogonadotropic hypogonadism 2 with or without anosmia

Symptoms for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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Symptoms by clinical synopsis from OMIM:

147950

Clinical features from OMIM:

147950

HPO human phenotypes related to Hypogonadotropic Hypogonadism 2 with or Without Anosmia:

(show all 17)
id Description Frequency HPO Source Accession
1 ectrodactyly rare (5%) HP:0100257
2 clinodactyly rare (5%) HP:0030084
3 agenesis of corpus callosum rare (5%) HP:0001274
4 osteopenia rare (5%) HP:0000938
5 iris coloboma rare (5%) HP:0000612
6 abnormality of cardiovascular system morphology HP:0030680
7 short stature HP:0004322
8 intellectual disability HP:0001249
9 primary amenorrhea HP:0000786
10 anosmia HP:0000458
11 choanal atresia HP:0000453
12 sensorineural hearing impairment HP:0000407
13 cleft upper lip HP:0000204
14 cleft palate HP:0000175
15 micropenis HP:0000054
16 hypogonadotrophic hypogonadism HP:0000044
17 cryptorchidism HP:0000028

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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Drugs for Hypogonadotropic Hypogonadism 2 with or Without Anosmia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Vitamin Eapproved, nutraceuticalPhase 337159-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-alpha-tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-trimethyltridecyl]chroman-6-ol
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'r)-alpha-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-alpha-tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitamin e
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
d-alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
2AntioxidantsPhase 32442
3UbiquinonePhase 392
4TocotrienolsPhase 3372
5VitaminsPhase 33857
6Trace ElementsPhase 33900
7Protective AgentsPhase 35651
8TocopherolsPhase 3376
9MicronutrientsPhase 33901
10TocotrienolNutraceuticalPhase 3372
11
Coenzyme Q10NutraceuticalPhase 3104303-98-05281915
Synonyms:
(all-E)-2,3-dimethoxy-5-methyl-6-(3,7,11,15,19,23,27,31-octamethyl-2,6,10,14,18,22,26,30-dotriacontaoctaenyl)-2,5-Cyclohexadiene-1,4-dione
(all-E)-2-(3,7,11,15,19,23,27,31,35,39-decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione
2-(3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-p-Benzoquinone
2-[(2E,6E,10E,14E,18E,22E,26E,30E,34E)-3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl]-5,6-dimethoxy-3-methyl- 2,5-Cyclohexadiene-1,4-dione
4-Ethyl-5-fluoropyrimidine
Aqua Q 10L10
Aqua Q10
Bio-Quinon
Bio-Quinone Q10
CoQ10
Coenzyme Q10
Ensorb
Kaneka Q10
Kudesan
 
Li-Q-Sorb
Liquid-Q
Neuquinon
Neuquinone
PureSorb Q 40
Q 10AA
Q-Gel
Q-Gel 100
Ubidecarenone
Ubiquinone 10
Ubiquinone 50
Ubiquinone Q10
Ubiquinone-10
Unbiquinone
Unispheres Q 10
12TocopherolNutraceuticalPhase 3376
13
Morphineapproved, investigational85557-27-25288826
Synonyms:
(-)(5.alpha.,6.alpha.)-7,8-Didehydro-4,5-epoxy-17-methylmorphinan-3,6-diol
(-)-Heroin hydrochloride
(-)-Morphine
(-)Morphine sulfate
(5R,6S,9R,13S,14R)-4,5-Epoxy-N-methyl-7-morphinen-3,6-diol
(5alpha,6alpha)-17-Methyl-7,8-didehydro-4,5-epoxymorphinan-3,6-diol
(5alpha,6alpha)-17-methyl-7,8-didehydro-4,5-epoxymorphinan-3,6-diol
(5alpha,6alpha)-7,8-Didehydro-4,5-epoxy-17-methylmorphinan-3,6-diol
(5alpha,6alpha)-Didehydro-4,5-epoxy-17-methylmorphinan-3,6-diol
(7R,7AS,12BS)-3-METHYL-2,3,4,4A,7,7A-HEXAHYDRO-1H-4,12-METHANO[1]BENZOFURO[3,2-E]ISOQUINOLINE-7,9-DIOL
(7R,7AS,12bs)-3-methyl-2,3,4,4a,7,7a-hexahydro-1H-4,12-methano[1]benzofuro[3,2-e]isoquinoline-7,9-diol
(−)-morphine
17-methyl-7,8-didehydro-4,5alpha-epoxymorphinan-3,6alpha-diol
4,5alpha-Epoxy-17-methyl-7-morphinen-3,6alpha-diol
4-methyl-(13R,14S)-12-oxa-4-azapentacyclo[9.6.1.01,13.05,17.07,18]octadeca-7(18),8,10,15-tetraene-10,14-diol
47106-99-0
57-27-2
6211-15-0 (sulfate (2:1) (salt) pentahydrate)
64-31-3
64-31-3 (sulfate (2:1) (salt) anhydrous)
7,8-Didehydro-4,5-epoxy-17-methyl-morphinan-3,6-diol
7,8-Didehydro-4,5-epoxy-17-methylmorphinan-3,6-diol
8053-16-5
85201-37-2
Apokyn
Astramorph PF
Avinza
BIDD:GT0147
C01516
CCRIS 5762
CHEBI:17303
CHEMBL70
CID5288826
Cube juice
D-(-)-Morphine
DB00295
DEA No. 9300
DepoDur
Depodur
Diacetylmorphine hydrochloride
Diamorphine hydrochloride
Dolcontin
Dreamer
Dulcontin
Duramorph
Duramorph PF
Duromorph
EINECS 200-320-2
Epimorph
HSDB 2134
Hard stuff
Heroin hydrochloride
Heroine hydrochloride
Hocus
Infumorph
 
Kadian
LS-91748
M-Eslon
M.O.S
MOI
MORPHINE SULFATE
MORPHINE, (5A,6A)-7,8-DIDEHYDRO-4,5-EPOXY-17-METHYLMORPHINIAN-3,6-DIOL, MORPHIUM, MORPHIA, DOLCONTIN, DUROMORPH, MORPHINA, NEPENTHE
MS Contin
MS/L
MS/S
MSIR
Meconium
MolPort-003-849-273
Morfina
Morfina [Italian]
Morphia
Morphin
Morphin [German]
Morphina
Morphina [Italian]
Morphine
Morphine Extra-Forte
Morphine Forte
Morphine H.P
Morphine Sulfate
Morphine [BAN]
Morphinism
Morphinum
Morphitec
Morphium
Morpho
Moscontin
Ms Contin
Ms Emma
NSC11441
Nepenthe
O,O'-Diacetylmorphine hydrochloride
OMS Concentrate
Oramorph SR
Ospalivina
RMS
RMS Uniserts
Rescudose
Roxanol
Roxanol 100
Roxanol UD
SDZ 202-250
SDZ202-250
Statex
Statex Drops
Statex SR
UNII-76I7G6D29C
Unkie
l-Morphine
morphine
nchembio.317-comp1
nchembio.64-comp1
14
Sufentanilapproved, investigational15356030-54-741693
Synonyms:
56030-54-7
60561-17-3 (citrate)
AC1L26AJ
AC1Q5I7B
C08022
C22H30N2O2S
CHEBI:127638
CHEBI:9316
CHEMBL658
CID41693
Chronogesic
D05938
DB00708
HSDB 6760
L000580
LS-175693
MolPort-004-286-008
N-(4-(Methoxymethyl)-1-(2-(2-thienyl)ethyl)-4-piperidinyl)-N-phenylpropanamide
N-(4-(Methoxymethyl)-1-(2-(2-thienyl)ethyl)-4-piperidyl)propionanilide
 
N-[4-(methoxymethyl)-1-(2-thiophen-2-ylethyl)piperidin-4-yl]-N-phenylpropanamide
N-{4-(methoxymethyl)-1-[2-(2-thienyl)ethyl]piperidin-4-yl}-N-phenylpropanamide
N-{4-[(methyloxy)methyl]-1-[2-(2-thienyl)ethyl]piperidin-4-yl}-N-phenylpropanamide
Oprea1_120838
Oprea1_246787
PDSP1_001741
PDSP2_001724
R 30730
R-30730
SUFENTANIL
Sufentanil
Sufentanil (USAN/INN)
Sufentanil Citrate
Sufentanil [USAN:BAN:INN]
Sufentanilo
Sufentanilum
Sufentanilum [INN-Latin]
Sufentanyl
Sulfentanil
Sulfentanyl
UNII-AFE2YW0IIZ
15
Bupivacaineapproved, investigational9642180-92-92474
Synonyms:
( inverted exclamation markA)-bupivacaine
(+-)-Bupivacaine
(1)-1-Butyl-N-(2,6-dimethylphenyl)piperidine-2-carboxamide
(RS)-bupivacaine
1-Butyl-2',6'-pipecoloxylidide
1-Butyl-N-(2,6-dimethylphenyl)-2-piperidinecarboxamide
1-butyl-N-(2,6-dimethylphenyl)piperidine-2-carboxamide
15233-43-9
2180-92-9
38396-39-3
AB00053674
AC-2096
AC1L1DRE
AC1Q5LX4
AH 250
AKOS001637202
AR-1A0242
Anekain
BPBio1_000298
BRD-A01636364-003-05-2
BSPBio_000270
BSPBio_002607
Bio-0886
Bloqueina
Bucaine
Bucaine (TN)
Bupivacaina
Bupivacaina [INN-Spanish]
Bupivacaine
Bupivacaine (INN)
Bupivacaine Carbonate
Bupivacaine HCL
Bupivacaine HCL KIT
Bupivacaine Hydrochloride
Bupivacaine Monohydrochloride, Monohydrate
Bupivacaine [INN:BAN]
Bupivacainum
Bupivacainum [INN-Latin]
Bupivan
C07529
C18H28N2O
CBupivacaine
CHEBI:3215
CHEMBL1098
CID2474
Carbostesin
D07552
DB00297
DL-Bupivacaine
DUR-843
DepoBupivacaine
 
DivK1c_000758
EINECS 218-553-3
EINECS 253-911-2
Exparel
HMS2090F12
IDI1_000758
KBio1_000758
KBio2_002004
KBio2_004572
KBio2_007140
KBio3_001827
KBioGR_001516
KBioSS_002004
KST-1A4609
L000695
LAC-43
LS-109841
LS-2222
MLS001361336
Marcaina
Marcaine
Marcaine HCL
Marcaine Spinal
MolPort-004-955-820
NCGC00178579-01
NCGC00178579-02
NINDS_000758
NSC119660
Prestwick0_000305
Prestwick1_000305
Prestwick2_000305
Prestwick3_000305
Racemic bupivacaine
SMR000058218
SPBio_001558
SPBio_002489
Sensorcaine
Sensorcaine-MPF
Sensorcaine-MPF Spinal
Spectrum2_001589
Spectrum3_000974
Spectrum4_001098
Spectrum5_001483
Spectrum_001524
Transdur-Bupivacaine
UNII-Y8335394RO
Vivacaine
Win 11318
Win 11318 HCl
bupivacaine
cBupivacaine
dl-1-Butyl-2',6'-pipecoloxylidide
16Anesthetics, Local2347
17Anesthetics7385
18Hormones11748

Interventional clinical trials:

idNameStatusNCT IDPhase
1Effects of Coenzyme Q10 (CoQ) in Parkinson DiseaseTerminatedNCT00740714Phase 3
2Maximizing Mechanisms of Muscle Hypertrophy to Combat Sarcopenia in Older AdultsCompletedNCT02442479
3Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive DisordersRecruitingNCT00494169
4Continuous Infusion for Pain ReliefNot yet recruitingNCT02711072
5Detailed Clinical, Biochemical and Genetic Characterization in Gonadotropin-releasing Hormone (GnRH) Deficiency DisordersTerminatedNCT01165619

Search NIH Clinical Center for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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Anatomical Context for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 2 with or Without Anosmia:

33
Pituitary, Olfactory bulb

Animal Models for Hypogonadotropic Hypogonadism 2 with or Without Anosmia or affiliated genes

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Publications for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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Variations for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 2 with or Without Anosmia:

67 (show all 60)
id Symbol AA change Variation ID SNP ID
1FGFR1p.Gly97AspVAR_017885
2FGFR1p.Tyr99CysVAR_017886
3FGFR1p.Ala167SerVAR_017887
4FGFR1p.Cys277TyrVAR_017888
5FGFR1p.Val607MetVAR_017889
6FGFR1p.Trp666ArgVAR_017890
7FGFR1p.Met719ArgVAR_017891
8FGFR1p.Pro772SerVAR_017892rs56234888
9FGFR1p.Gly48SerVAR_030968
10FGFR1p.Arg78CysVAR_030970
11FGFR1p.Cys101PheVAR_030971
12FGFR1p.Val102IleVAR_030972rs55642501
13FGFR1p.Asp129AlaVAR_030973
14FGFR1p.Cys178SerVAR_030974
15FGFR1p.Asp224HisVAR_030976
16FGFR1p.Gly237AspVAR_030977
17FGFR1p.Gly237SerVAR_030978
18FGFR1p.Leu245ProVAR_030979
19FGFR1p.Arg250TrpVAR_030980
20FGFR1p.Arg254GlnVAR_030981
21FGFR1p.Gly270AspVAR_030982
22FGFR1p.Val273MetVAR_030983
23FGFR1p.Glu274GlyVAR_030984
24FGFR1p.Pro283ArgVAR_030985
25FGFR1p.Ser332CysVAR_030988
26FGFR1p.Tyr339CysVAR_030989
27FGFR1p.Ala343ValVAR_030990
28FGFR1p.Ser346CysVAR_030991
29FGFR1p.Pro366LeuVAR_030992
30FGFR1p.Ala520ThrVAR_030995
31FGFR1p.Ile538ValVAR_030996
32FGFR1p.His621ArgVAR_030997
33FGFR1p.Arg622GlyVAR_030998
34FGFR1p.Arg622GlnVAR_030999
35FGFR1p.Ser685PheVAR_031000
36FGFR1p.Gly687ArgVAR_031001
37FGFR1p.Ile693PheVAR_031002
38FGFR1p.Gly703ArgVAR_031003
39FGFR1p.Gly703SerVAR_031004
40FGFR1p.Pro722HisVAR_031005
41FGFR1p.Pro722SerVAR_031006
42FGFR1p.Asn724LysVAR_031007
43FGFR1p.Pro745SerVAR_031008
44FGFR1p.Val795IleVAR_031010
45FGFR1p.Asn117SerVAR_069288
46FGFR1p.Tyr228AspVAR_069289
47FGFR1p.Ile239ThrVAR_069290
48FGFR1p.Arg250GlnVAR_069291
49FGFR1p.Arg470LeuVAR_069292
50FGFR1p.Lys618AsnVAR_069293
51FGFR1p.Ala671ProVAR_069294
52FGFR1p.Leu342SerVAR_069954
53FGFR1p.Gly348ArgVAR_069955
54FGFR1p.Pro483ThrVAR_069956
55FGFR1p.Glu670LysVAR_069957
56FGFR1p.Glu692GlyVAR_069958
57FGFR1p.Asp768TyrVAR_069959
58FGFR1p.Gly70ArgVAR_072993
59FGFR1p.Val116IleVAR_072994
60FGFR1p.Val174AlaVAR_072995

Clinvar genetic disease variations for Hypogonadotropic Hypogonadism 2 with or Without Anosmia:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR1NM_023110.2(FGFR1): c.443G> A (p.Arg148His)single nucleotide variantPathogenicrs515726222GRCh37Chr 8, 38285869: 38285869
2FGFR1NM_023110.2(FGFR1): c.790A> C (p.Asn264His)single nucleotide variantPathogenicrs515726223GRCh37Chr 8, 38282173: 38282173
3FGFR1NM_023110.2(FGFR1): c.1460G> A (p.Gly487Asp)single nucleotide variantPathogenicrs515726224GRCh37Chr 8, 38275480: 38275480
4FGFR1NM_023110.2(FGFR1): c.2084C> T (p.Thr695Ile)single nucleotide variantPathogenicrs515726225GRCh37Chr 8, 38271772: 38271772
5FGFR1NM_023110.2(FGFR1): c.1864C> T (p.Arg622Ter)single nucleotide variantLikely pathogenic, risk factorrs121909628GRCh37Chr 8, 38272410: 38272410
6FGFR1NM_023110.2(FGFR1): c.709G> A (p.Gly237Ser)single nucleotide variantrisk factorrs121909635GRCh37Chr 8, 38283676: 38283676
7FGFR1NM_023110.2(FGFR1): c.2165C> A (p.Pro722His)single nucleotide variantrisk factorrs267606805GRCh37Chr 8, 38271691: 38271691
8FGFR1NM_023110.2(FGFR1): c.2038C> T (p.Gln680Ter)single nucleotide variantLikely pathogenic, Pathogenicrs121909636GRCh37Chr 8, 38272087: 38272087
9FGFR1NM_023110.2(FGFR1): c.1409G> T (p.Arg470Leu)single nucleotide variantrisk factorrs121909637GRCh37Chr 8, 38275767: 38275767
10FGFR1NM_023110.2(FGFR1): c.142G> A (p.Gly48Ser)single nucleotide variantPathogenicrs121909640GRCh37Chr 8, 38287416: 38287416
11FGFR1NM_023110.2(FGFR1): c.2292G> T (p.Gln764His)single nucleotide variantPathogenicrs121909643GRCh37Chr 8, 38271436: 38271436
12FGFR1NM_023110.2(FGFR1): c.2302G> T (p.Asp768Tyr)single nucleotide variantrisk factorrs121909644GRCh37Chr 8, 38271313: 38271313
13FGFR1NM_023110.2(FGFR1): c.749G> A (p.Arg250Gln)single nucleotide variantrisk factorrs121909645GRCh37Chr 8, 38282214: 38282214
14FGFR1NM_023110.2(FGFR1): c.565C> T (p.Arg189Cys)single nucleotide variantPathogenicrs863223331GRCh37Chr 8, 38285495: 38285495

Expression for genes affiliated with Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 2 with or Without Anosmia.

Pathways for genes affiliated with Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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GO Terms for genes affiliated with Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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Sources for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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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