Details of Disease

General Information of Disease (ID: DIS1I4BY)

Disease Name Hypogonadotropic hypogonadism 27 without anosmia
Synonyms hypogonadotropic hypogonadism 27 without anosmia; HH27
Disease Hierarchy
DIS8JSKR: Hypogonadotropic hypogonadism
DIS1I4BY: Hypogonadotropic hypogonadism 27 without anosmia
Disease Identifiers
MONDO ID
MONDO_0030684
UMLS CUI
C5676921
OMIM ID
619755
MedGen ID
1810165

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
NHLH2 OT88N84O Limited Unknown [1]
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References

1 Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans. Hum Genet. 2022 Feb;141(2):295-304. doi: 10.1007/s00439-021-02422-9. Epub 2022 Jan 23.