MCID: RRD011
MIFTS: 7

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 59
Rare Disorder with Secondary Hypogonadism 59

Classifications:



External Ids:

UMLS via Orphanet 73 C0271623
Orphanet 59 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).

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

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
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GNRHR NM_000406.2(GNRHR): c.317A> G (p.Gln106Arg) single nucleotide variant Pathogenic/Likely pathogenic 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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