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Metadata
ID DOID:0090094
Name hypogonadotropic hypogonadism 1 with or without anosmia
Definition A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene.
https://www.ncbi.nlm.nih.gov/pubmed/1594017, https://www.ncbi.nlm.nih.gov/pubmed/16882753, https://www.ncbi.nlm.nih.gov/pubmed/17054399
Xrefs

ICD10CM:E23.0

OMIM:308700

Synonyms

dysplasia olfactogenitalis of de morsier [EXACT]

Parent Relationships

is_a hypogonadotropic hypogonadism

is_a X-linked recessive disease

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