hypogonadotropic hypogonadism 23 with or without anosmia

Summary

DOID:0090091 - hypogonadotropic hypogonadism 23 with or without anosmia

Disease Ontology Definition:A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13.

Synonyms: 46,XY DSD due to LHB deficiency, 46,XY DSD due to luteinizing hormone subunit beta deficiency, 46,XY disorder of sex development due to LHB deficiency, 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency, Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency, Pasqualini syndrome, fertile eunuch syndrome, leydig cell hypoplasia due to LHB deficiency,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

OMIM:

MIM:228300 - fertile eunuch syndrome

MIM:228300 - fertile eunuch syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), hypogonadotropic hypogonadism (is_a)