Visualize Submit Comment

Metadata
ID	DOID:0090083
Name	hypogonadotropic hypogonadism 2 with or without anosmia
Definition	A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes. https://www.ncbi.nlm.nih.gov/pubmed/20696889, https://www.ncbi.nlm.nih.gov/pubmed/12627230
Xrefs	ICD10CM:E23.0 MIM:147950
Parent Relationships	is_a autosomal dominant disease is_a hypogonadotropic hypogonadism
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance