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NIHH
MCID: NRM018
MIFTS: 40

Normosmic Congenital Hypogonadotropic Hypogonadism (NIHH)

Categories: Endocrine diseases, Rare diseases, Reproductive diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Normosmic Congenital Hypogonadotropic Hypogonadism

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MalaCards integrated aliases for Normosmic Congenital Hypogonadotropic Hypogonadism:

Name: Normosmic Congenital Hypogonadotropic Hypogonadism 58
Normosmic Idiopathic Hypogonadotropic Hypogonadism 58
Isolated Congenital Gonadotropin Deficiency 58
Gonadotropic Deficiency 58
Nihh 58

Characteristics:

Orphanet epidemiological data:

58
normosmic congenital hypogonadotropic hypogonadism
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Reproductive diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases


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Summaries for Normosmic Congenital Hypogonadotropic Hypogonadism

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MalaCards based summary : Normosmic Congenital Hypogonadotropic Hypogonadism, also known as normosmic idiopathic hypogonadotropic hypogonadism, is related to congenital hypogonadotropic hypogonadism and hypopituitarism. An important gene associated with Normosmic Congenital Hypogonadotropic Hypogonadism is KISS1R (KISS1 Receptor), and among its related pathways/superpathways are Peptide ligand-binding receptors and Signaling by GPCR. Affiliated tissues include pituitary, heart and breast, and related phenotypes are delayed skeletal maturation and cryptorchidism

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Related Diseases for Normosmic Congenital Hypogonadotropic Hypogonadism

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Diseases related to Normosmic Congenital Hypogonadotropic Hypogonadism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 congenital hypogonadotropic hypogonadism 30.7 GNRHR FGFR1 DUSP6 CHD7 ANOS1
2 hypopituitarism 29.4 PROKR2 PROK2 GNRH1
3 hypogonadotropism 29.3 TACR3 TAC3 PROKR2 KISS1R KISS1 GNRHR
4 coloboma of macula 27.6 TACR3 PROKR2 PROK2 NSMF KISS1R HS6ST1
5 hypogonadotropic hypogonadism 7 with or without anosmia 27.0 WDR11 SPRY4 PROKR2 HS6ST1 GNRHR GNRH1
6 cryptorchidism, unilateral or bilateral 25.7 TACR3 TAC3 SPRY4 PROKR2 PROK2 NSMF
7 hypogonadotropic hypogonadism 24.7 WDR11 TACR3 TAC3 SPRY4 PROKR2 PROK2
8 hypogonadism 24.7 WDR11 TACR3 TAC3 SPRY4 PROKR2 PROK2
9 kallmann syndrome 24.1 WDR11 TACR3 TAC3 SPRY4 PROKR2 PROK2
10 hypogonadotropic hypogonadism 2 with or without anosmia 12.1
11 hypogonadotropic hypogonadism 1 with or without anosmia 12.1
12 hypogonadotropic hypogonadism 4 with or without anosmia 12.1
13 hypogonadotropic hypogonadism 3 with or without anosmia 11.7
14 hypogonadotropic hypogonadism 5 with or without anosmia 11.7
15 hypogonadotropic hypogonadism 6 with or without anosmia 11.7
16 hypogonadotropic hypogonadism 9 with or without anosmia 11.7
17 hypogonadotropic hypogonadism 10 with or without anosmia 11.7
18 hypogonadotropic hypogonadism 11 with or without anosmia 11.7
19 hypogonadotropic hypogonadism 12 with or without anosmia 11.7
20 hypogonadotropic hypogonadism 13 with or without anosmia 11.7
21 hypogonadotropic hypogonadism 14 with or without anosmia 11.7
22 hypogonadotropic hypogonadism 15 with or without anosmia 11.7
23 hypogonadotropic hypogonadism 16 with or without anosmia 11.7
24 hypogonadotropic hypogonadism 17 with or without anosmia 11.7
25 hypogonadotropic hypogonadism 18 with or without anosmia 11.7
26 hypogonadotropic hypogonadism 19 with or without anosmia 11.7
27 hypogonadotropic hypogonadism 20 with or without anosmia 11.7
28 hypogonadotropic hypogonadism 21 with or without anosmia 11.7
29 hypogonadotropic hypogonadism 22 with or without anosmia 11.7
30 cleft lip 10.5
31 cleft lip/palate 10.5
32 branchiootic syndrome 1 10.4
33 hypospadias 10.4
34 amenorrhea 10.4
35 heart septal defect 10.4
36 atrial heart septal defect 10.4
37 hypogonadotropic hypogonadism 8 with or without anosmia 10.4
38 hypoglycemia 10.4
39 isolated gonadotropin-releasing hormone deficiency 10.4
40 growth hormone deficiency 10.4
41 retinitis pigmentosa 67 10.3 TACR3 TAC3
42 infertility 10.2
43 hartsfield syndrome 10.2 FGFR1 FGF8
44 lobar holoprosencephaly 10.1 FGFR1 FGF8
45 microform holoprosencephaly 10.1 FGFR1 FGF8
46 lacrimoauriculodentodigital syndrome 10.0 FGFR1 FGF8 FGF17
47 crouzon syndrome 9.9 FGFR1 FGF8 FGF17
48 central precocious puberty 9.9 KISS1R KISS1 GNRH1
49 precocious puberty 9.9 KISS1R KISS1 GNRH1
50 pfeiffer syndrome 9.9 FGFR1 FGF8 CHD7

Graphical network of the top 20 diseases related to Normosmic Congenital Hypogonadotropic Hypogonadism:



Diseases related to Normosmic Congenital Hypogonadotropic Hypogonadism
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Symptoms & Phenotypes for Normosmic Congenital Hypogonadotropic Hypogonadism

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Human phenotypes related to Normosmic Congenital Hypogonadotropic Hypogonadism:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
3 wide intermamillary distance 58 31 hallmark (90%) Very frequent (99-80%) HP:0006610
4 primary amenorrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000786
5 male hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000026
6 absence of secondary sex characteristics 58 31 hallmark (90%) Very frequent (99-80%) HP:0008187
7 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
8 decreased serum testosterone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0040171
9 micropenis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000054
10 abnormality of the voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001608
11 sparse body hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002231
12 non-obstructive azoospermia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011961
13 impotence 58 31 hallmark (90%) Very frequent (99-80%) HP:0000802
14 female hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000134
15 breast hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003187
16 eunuchoid habitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0003782
17 absence of pubertal development 58 31 hallmark (90%) Very frequent (99-80%) HP:0008197
18 increased female libido 58 31 hallmark (90%) Very frequent (99-80%) HP:0030019
19 hypogonadotrophic hypogonadism 31 hallmark (90%) HP:0000044
20 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
21 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
22 delayed puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000823
23 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
24 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
25 secondary amenorrhea 58 31 frequent (33%) Frequent (79-30%) HP:0000869
26 gynecomastia 58 31 frequent (33%) Frequent (79-30%) HP:0000771
27 hypoplasia of the uterus 58 31 frequent (33%) Frequent (79-30%) HP:0000013
28 hypoplasia of the ovary 58 31 frequent (33%) Frequent (79-30%) HP:0008724
29 abnormality of body height 58 31 frequent (33%) Frequent (79-30%) HP:0000002
30 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
31 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
32 abnormality of the dentition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000164
33 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
34 congenital sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008527
35 camptodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0012385
36 generalized joint laxity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002761
37 azoospermia 58 Very frequent (99-80%)
38 decreased testosterone in males 58 Very frequent (99-80%)
39 phenotypic abnormality 58 Very frequent (99-80%)
40 low gonadotropins (secondary hypogonadism) 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Normosmic Congenital Hypogonadotropic Hypogonadism:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.25 CHD7 FGF8 FGFR1 GNRH1 GNRHR HS6ST1
2 growth/size/body region MP:0005378 10.25 CHD7 DUSP6 FGF8 FGFR1 GNRH1 GNRHR
3 homeostasis/metabolism MP:0005376 10.18 CHD7 DUSP6 FGF8 FGFR1 GNRH1 GNRHR
4 digestive/alimentary MP:0005381 10.16 CHD7 FGF8 FGFR1 GNRH1 GNRHR KISS1
5 nervous system MP:0003631 10.03 CHD7 FGF17 FGF8 FGFR1 GNRH1 KISS1
6 craniofacial MP:0005382 9.95 CHD7 DUSP6 FGF8 FGFR1 SPRY4 WDR11
7 limbs/digits/tail MP:0005371 9.8 CHD7 FGF8 FGFR1 HS6ST1 SPRY4 WDR11
8 reproductive system MP:0005389 9.73 CHD7 FGF8 FGFR1 GNRH1 GNRHR KISS1
9 renal/urinary system MP:0005367 9.7 FGF8 FGFR1 GNRH1 GNRHR KISS1 KISS1R
10 skeleton MP:0005390 9.28 CHD7 DUSP6 FGF8 FGFR1 GNRH1 HS6ST1
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Drugs & Therapeutics for Normosmic Congenital Hypogonadotropic Hypogonadism

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Search Clinical Trials , NIH Clinical Center for Normosmic Congenital Hypogonadotropic Hypogonadism

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Genetic Tests for Normosmic Congenital Hypogonadotropic Hypogonadism

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Anatomical Context for Normosmic Congenital Hypogonadotropic Hypogonadism

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MalaCards organs/tissues related to Normosmic Congenital Hypogonadotropic Hypogonadism:

40
Pituitary, Heart, Breast, Ovary, Uterus, Brain
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Publications for Normosmic Congenital Hypogonadotropic Hypogonadism

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Articles related to Normosmic Congenital Hypogonadotropic Hypogonadism:

(show top 50) (show all 68)
# Title Authors PMID Year
1
Inactivating KISS1 mutation and hypogonadotropic hypogonadism. 6
22335740 2012
2
TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood. 6
20332248 2010
3
Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation. 6
19535795 2009
4
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency 6
20301509 2007
5
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. 6
17235395 2007
6
A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia. 6
16968799 2006
7
GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone to gonadotropin-releasing hormone. 6
15240592 2004
8
Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism. 6
12679486 2003
9
Novel homozygous splice acceptor site GnRH receptor (GnRHR) mutation: human GnRHR "knockout". 6
12050282 2002
10
Molecular basis of hypogonadotropic hypogonadism: restoration of mutant (E(90)K) GnRH receptor function by a deletion at a distant site. 6
11994356 2002
11
The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor. 6
11397842 2001
12
Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction. 6
11397871 2001
13
A novel homozygous mutation in the second transmembrane domain of the gonadotrophin releasing hormone receptor gene. 6
11318785 2001
14
A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect. 6
10999776 2000
15
Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations. 6
10690855 2000
16
Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor. 6
10523035 1999
17
Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration. 6
10084584 1999
18
The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred. 6
10022417 1999
19
Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism. 6
9425890 1998
20
A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor. 6
9371856 1997
21
A single-nucleotide polymorphism induced alternative splicing in Tacr3 involves in hypoxic-ischemic brain damage. 61
31722250 2020
22
Identification of KISS1R gene mutations in disorders of non-obstructive azoospermia in the northeast population of China. 61
31821609 2019
23
Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism. 61
30216942 2019
24
Nonstop mutation in the Kisspeptin 1 receptor (KISS1R) gene causes normosmic congenital hypogonadotropic hypogonadism. 61
31073722 2019
25
An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1R/GPR54 in a Large Family. 61
31885997 2019
26
Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature. 61
30575316 2019
27
The clinical and psychological profiles of patients with hypogonadism, followed in 3 reference hospitals of Cameroon: an observational study. 61
31448010 2019
28
Complete Kisspeptin Receptor Inactivation Does Not Impede Exogenous GnRH-Induced LH Surge in Humans. 61
30124894 2018
29
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism. 61
29108899 2018
30
The mystery of puberty initiation: genetics and epigenetics of idiopathic central precocious puberty (ICPP). 61
28251550 2017
31
GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism. 61
28611058 2017
32
Clinical characteristics and follow-up of 5 young Chinese males with gonadotropin-releasing hormone deficiency caused by mutations in the KAL1 gene. 61
26862482 2016
33
Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide. 61
26595427 2016
34
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform. 61
26277103 2015
35
Pulsatile GnRH Is Superior to hCG in Therapeutic Efficacy in Adolescent Boys With Hypogonadotropic Hypogonadodism. 61
25978110 2015
36
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families. 61
25262569 2015
37
Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience. 61
25883924 2015
38
Sex steroids, precursors, and metabolite deficiencies in men with isolated hypogonadotropic hypogonadism and panhypopituitarism: a GCMS-based comparative study. 61
25393641 2015
39
Triallelic digenic mutation in the prokineticin 2 and GNRH receptor genes in two brothers with normosmic congenital hypogonadotropic hypogonadism. 61
25531638 2015
40
A female patient with normosmic idiopathic hypogonadotropic hypogonadism carrying a novel mutation in FGFR1. 61
25501157 2014
41
Functional consequences of AXL sequence variants in hypogonadotropic hypogonadism. 61
24476074 2014
42
Normosmic idiopathic hypogonadotropic hypogonadism: update on the genetic background and future challenges. 61
23640935 2013
43
[Multiplex ligation dependent probe amplification analysis of KAL1, GNRH1, GNRHR, PROK2 and PROKR2 in male patients with idiopathic hypogonadotropic hypogonadism]. 61
24002956 2013
44
Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation. 61
23349759 2013
45
R31C GNRH1 mutation and congenital hypogonadotropic hypogonadism. 61
23936060 2013
46
Familial normosmic idiopathic hypogonadotropic hypogonadism: is there a phenotypic marker for each genetic mutation? Report of three cases and review of literature. 61
23230250 2012
47
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism. 61
22766261 2012
48
Molecular defects of the GnRH-receptor gene in Chinese patients with idiopathic hypogonadotropic hypogonadism and the severity of hypogonadism. 61
23155690 2012
49
Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction. 61
21664428 2011
50
Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome. 61
21300340 2011
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Variations for Normosmic Congenital Hypogonadotropic Hypogonadism

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Expression for Normosmic Congenital Hypogonadotropic Hypogonadism

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Search GEO for disease gene expression data for Normosmic Congenital Hypogonadotropic Hypogonadism.
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Pathways for Normosmic Congenital Hypogonadotropic Hypogonadism

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Pathways related to Normosmic Congenital Hypogonadotropic Hypogonadism according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Peptide ligand-binding receptors 65
Show member pathways
 13.14 TACR3 TAC3 PROKR2 PROK2 KISS1R KISS1
2
Signaling by GPCR 65
Show member pathways
 13.13 TACR3 TAC3 PROKR2 PROK2 KISS1R KISS1
3
NF-KappaB Family Pathway 63
Show member pathways
 12.42 GNRH1 FGFR1 FGF8 FGF17
4
Negative regulation of FGFR3 signaling 65
Show member pathways
 12.25 FGFR1 FGF8 FGF17 ANOS1
5
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 11.97 GNRH1 FGFR1 FGF8 FGF17
6
Signaling by FGFR2 in disease 65
Show member pathways
 11.85 FGFR1 FGF8 FGF17
7
Signaling by FGFR2 65
Show member pathways
 11.54 FGFR1 FGF8 FGF17 ANOS1
8
FGFR1 mutant receptor activation 65
Show member pathways
 11.45 FGFR1 FGF8 FGF17
9
G-protein signaling_RhoA regulation pathway 22
11.4 GNRH1 FGFR1 FGF8 FGF17
10
GnRH secretion 36
11.14 KISS1R KISS1 GNRH1
11
Hormone ligand-binding receptors 65
10.48 GNRHR GNRH1
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GO Terms for Normosmic Congenital Hypogonadotropic Hypogonadism

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Cellular components related to Normosmic Congenital Hypogonadotropic Hypogonadism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.23 TAC3 PROK2 KISS1 GNRH1 FGFR1 FGF8

Biological processes related to Normosmic Congenital Hypogonadotropic Hypogonadism according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 response to organic cyclic compound GO:0014070 9.67 GNRH1 FGF8 DUSP6
2 MAPK cascade GO:0000165 9.67 FGFR1 FGF8 FGF17 DUSP6
3 G protein-coupled receptor signaling pathway GO:0007186 9.56 TACR3 TAC3 PROKR2 PROK2 KISS1R KISS1
4 embryonic hindlimb morphogenesis GO:0035116 9.51 FGF8 CHD7
5 aorta morphogenesis GO:0035909 9.48 FGF8 CHD7
6 generation of neurons GO:0048699 9.46 FGFR1 FGF8
7 neuropeptide signaling pathway GO:0007218 9.46 TAC3 PROKR2 PROK2 KISS1R
8 branching involved in salivary gland morphogenesis GO:0060445 9.43 FGFR1 FGF8
9 inner ear morphogenesis GO:0042472 9.43 FGFR1 FGF8 CHD7
10 organ induction GO:0001759 9.4 FGFR1 FGF8
11 tachykinin receptor signaling pathway GO:0007217 9.32 TACR3 TAC3
12 fibroblast growth factor receptor signaling pathway GO:0008543 8.92 FGFR1 FGF8 FGF17 ANOS1

Molecular functions related to Normosmic Congenital Hypogonadotropic Hypogonadism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor binding GO:0005104 8.62 FGF8 FGF17
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Sources for Normosmic Congenital Hypogonadotropic Hypogonadism

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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