hypogonadotropic hypogonadism 6 with or without anosmia

Term ID

DOID:0090086

Synonyms

Definition

A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene. https://www.ncbi.nlm.nih.gov/pubmed/18596921

References

• ICD10CM:E23.0
• OMIM:612702

Ontology

Human Disease   ( DOID:0090086 )