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Summary Literature (0)
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 disorder of sex development due to LHB deficiency, 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency, 46,XY DSD due to LHB deficiency, 46,XY DSD due to luteinizing hormone subunit beta deficiency, fertile eunuch syndrome, leydig cell hypoplasia due to LHB deficiency, Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency, Pasqualini syndrome

Xenbase Genes : lhb, gnrhr

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009223 - hypogonadotropic hypogonadism 23 with or without anosmia

MIM:
MIM:228300 - HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA; HH23

Other Model Organisms: Alliance, 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)