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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/12627230, https://www.ncbi.nlm.nih.gov/pubmed/20696889
Xrefs

ICD10CM:E23.0

OMIM:147950

Parent Relationships

is_a hypogonadotropic hypogonadism

is_a autosomal dominant disease

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