hypogonadotropic hypogonadism 24 without anosmia

Summary
Synonym
  • isolated follicle-stimulating hormone deficiency
Definition
A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14.
Super Class
autosomal recessive disease hypogonadotropic hypogonadism
External Links
Disease Ontology
DOID:0090088
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
1586 CYP17A1 cytochrome P450 family 17 subfamily A member 1
1588 CYP19A1 cytochrome P450 family 19 subfamily A member 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P05093 Steroid 17-alpha-hydroxylase/17,20 lyase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024