hypogonadotropic hypogonadism 5 with or without anosmia

Term ID

DOID:0090084

Synonyms

Definition

A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CHD7 gene on chromosome 8q12. https://www.ncbi.nlm.nih.gov/pubmed/18834967

References

• ICD10CM:E23.0
• OMIM:612370

Ontology

Human Disease   ( DOID:0090084 )