General Information of Disease (ID: DIS2W8AS)

Disease Name Hypogonadotropic hypogonadism 15 with or without anosmia
Synonyms HH15; HS6ST1 hypogonadotropic hypogonadism; hypogonadotropic hypogonadism caused by mutation in HS6ST1; hypogonadotropic hypogonadism 15 with or without anosmia
Definition Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene.
Disease Hierarchy
DIS8JSKR: Hypogonadotropic hypogonadism
DISO3HDG: Kallmann syndrome
DIS2W8AS: Hypogonadotropic hypogonadism 15 with or without anosmia
Disease Identifiers
MONDO ID
MONDO_0013946
UMLS CUI
C3553977
OMIM ID
614880
MedGen ID
766891

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HS6ST1 OTABV7D2 Limited Unknown [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.