MCID: RRD011
MIFTS: 8

Rare Disorder with Hypogonadotropic Hypogonadism

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

Aliases & Classifications for Rare Disorder with Hypogonadotropic Hypogonadism

MalaCards integrated aliases for Rare Disorder with Hypogonadotropic Hypogonadism:

Name: Rare Disorder with Hypogonadotropic Hypogonadism 58
Rare Disorder with Secondary Hypogonadism 58

Classifications:

Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases


External Ids:

UMLS via Orphanet 72 C0271623
Orphanet 58 ORPHA181387

Summaries for Rare Disorder with Hypogonadotropic Hypogonadism

MalaCards based summary : Rare Disorder with Hypogonadotropic Hypogonadism, is also known as rare disorder with secondary hypogonadism. An important gene associated with Rare Disorder with Hypogonadotropic Hypogonadism is GNRHR (Gonadotropin Releasing Hormone Receptor). Affiliated tissues include bone.

Related Diseases for Rare Disorder with Hypogonadotropic Hypogonadism

Diseases in the Hypogonadotropic Hypogonadism family:

Rare Disorder with Hypogonadotropic Hypogonadism Congenital Hypogonadotropic Hypogonadism

Symptoms & Phenotypes for Rare Disorder with Hypogonadotropic Hypogonadism

Drugs & Therapeutics for Rare Disorder with Hypogonadotropic Hypogonadism

Search Clinical Trials , NIH Clinical Center for Rare Disorder with Hypogonadotropic Hypogonadism

Genetic Tests for Rare Disorder with Hypogonadotropic Hypogonadism

Anatomical Context for Rare Disorder with Hypogonadotropic Hypogonadism

MalaCards organs/tissues related to Rare Disorder with Hypogonadotropic Hypogonadism:

40
Bone

Publications for Rare Disorder with Hypogonadotropic Hypogonadism

Variations for Rare Disorder with Hypogonadotropic Hypogonadism

ClinVar genetic disease variations for Rare Disorder with Hypogonadotropic Hypogonadism:

6 (showing 1, show less) ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNRHR NM_000406.2(GNRHR):c.317A>G (p.Gln106Arg)SNV Pathogenic/Likely pathogenic 16023 rs104893836 4:68619737-68619737 4:67754019-67754019

Expression for Rare Disorder with Hypogonadotropic Hypogonadism

Search GEO for disease gene expression data for Rare Disorder with Hypogonadotropic Hypogonadism.

Pathways for Rare Disorder with Hypogonadotropic Hypogonadism

GO Terms for Rare Disorder with Hypogonadotropic Hypogonadism

Sources for Rare Disorder with Hypogonadotropic Hypogonadism

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
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